My crazy guess is that your body doesn’t properly synthesize/make enough proline (proteinogenic amino acid that is used in the biosynthesis of proteins) thus the collagen which wraps your muscle fibers is sometimes faulty due to non-binding proteins.
12
I comment in reference to my 2 earlier posts, one here and the other in the original article. I continue to maintain that the original strep infection was treated with bicillin. Only days later, the patient experienced her first episode of rhabdomyolysis.
Following later recurrences of the patient's Rhabdomyolysis, the medical documentation errs by reporting the antibiotic as rocephin and therefore precludes the bicillin from future consideration as this error was carried forward in all subsequent records.
A documented side effect of bicillin is rhabdomyolysis and must be included in any insightful diagnostic paradigm for this case.
20
It isn't clear from this article if there are other people with the same symptoms.
If there are there might be something in common that might help help understand what is happening.
My best guess it is some kind of auto immune disease similar to vasculiis
https://en.wikipedia.org/wiki/Vasculitis
Try treating it with cortisone
2
I wonder if whole body vibration therapy (NASA) would have an effect either of precipitating symptoms or relieving pain once it has onset.
1
I think it’s worth a few visits with a psychologist to see if there is some kind of mind body issue going on.
1
I'm an expert in malignant hyperthermia - this sounds like could be related to RYR1 mutation, but agree with others that it could be myoadenylate deaminase deficiency, CPT2 def, or McArdles. Needs genetic analysis. Following sites should be helpful: mhaus.org, ryr1.org.
Guthrie lab in Buffalo specializes in this testing: http://www.rgbmgl.org/Portals/0/Docs/TestProfiles_041118.pdf?ver=2018-04...
But also Prevention Genetics for MH mutation screen: https://www.preventiongenetics.com/customPanels?val=Malignant%20Hyperthe...
24
Look at this photo. Sand. Desert. Everywhere.
for not-in-Vegas clinicians: If this is McArdle's or its ilk, what do we recommend to this 23-year-old? Stay in the 17% humidity of this year-round desert, learn to focus on extraordinary hydration measures, exercise only in air-conditioned places? Have a whole house reme halo cleaner plus humidifier in the air handling unit?
Or consider a life-altering, but essential-to-be-healthy, move soon to the commenter's place at OHSU (Oregon Health Sciences University) where it's getting hotter, but still rains. And is not yet on fire like much of our West. Not routinely down wind of poisonous gasses from wildfires like NV is. Or consider Minnpls/St Paul with lots of jobs, affordable lifestyle, and close to Mayo experts in both genetics and medicine. One good physician can become her reason to choose a healthier zip code?
For now, this young woman knows to be very wary of becoming pregnant. But soon, it will be time to assess her DNA and her partner or spouse's that could extend this suffering to her children. Been there when my family's teens decided decades ago to not have children or to adopt . . .to cut off the Irish addiction, including 100% alcoholics among four parents who produced 10 kids. We went from ten to two progency when you count two boys who died in their 20s. But, as here, it was the girls who had to pay attention . . .including one who had an abortion to be safe.
Strong women well-supported decide well.
7
1.where did you live till the age of 14.
2.were you expised to dioxin and or glyphosate,or any chemical companies and oil companies .these may have a direct influence on your present situation..
It is known that environmental variables can cause such symptoms.
3.were their or are their others similarly affected that you know of?.
2
Have your physicians explored McArdle disease?
1
Are we ever going to get updates on the other cases?
7
This story reminds me of this piece by David Epstein. May be there are scientists who can help with genome sequencing/GWAS studies? https://www.propublica.org/article/muscular-dystrophy-patient-olympic-me...
1
IF this young lady drinks Diet Coke or other diet drinks, she should immediately quit
4
Some readers suggested elimination diet. It's true some food and food additives can cause rhabdo, e.g Caffeine consumed in large quantities as coffee or energy drinks, cooked or raw seafood (Haff disease). A very interesting drink additive is Quinine. Tonic water, bitter lemon and lime, gin and other beverages can contain it. Quinine can cause severe adverse reactions involving multiple organ systems: microangiopathic hemolytic anemia, thrombocytopenia, liver toxicity and rhabdomyolysis. etc. Usually many organs get involved at the same time, but maybe it can cause isolated rhabdomyolysis also?
1
Sounds like the best response so far has been Myoadenylate Deaminase Deficiency (MADD) Type 1 or 2. I found a case report from 2008 that covers a very similar sounding disease, with elevated CK, recurrent sore throat, and Rhabdo: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2588625/
From my reading, there's also some evidence that viral and bacterial infection can worsen people heterozygous for MADD or even cause some type of acquired myopathy (see EBV induced myopathies) that may be acting alongside an underlying genetic condition like MADD. Serological tests for EBV and Anti-virals may be warranted.
Her previous Antibacterials are not detailed but since some (like Cipro) have been shown to increase the chances of tendinopathies, these should be avoided.
It seems apparent that the underlying condition may be viral, but there may also be some secondary infection that has led to her severe problems.
2
Should get checked for hypokalemic periodic paralysis.
2
Could this be Glycogen Storage Disease Type V (McArdle’s Disease)?
https://en.m.wikipedia.org/wiki/Glycogen_storage_disease_type_V
1
Brody Myopathy
I am not a medical doctor.
Various posters have made suggestions as to a possible diagnosis.
I don't know enough to comment on these various hypotheses.
Have her blood and urine been examined for abnormal [high or low] metabolites.
Presumably the various possible diagnoses manifest with different urine /blood metabolites and this examination might be a way of confirming or ruling out a particular diagnosis.
2
I recently started drinking high ph water. One of the benefits seems to be that it flushes impurities from cells. I feel good and have a lot more energy.
I drink ionized water with a ph of 9.5. There are many machines on the market that produce ionized water with a high ph. I have a Kangen water machine but there are others to chose from.
One problem is that the cleaning of the cells seems to be so effective that I cannot drink too much or it interferes with prescription medication I take.
I don’t care if these comments are published or not. But I hope you bring them to Angel’s attention as high ph water might provide some relief to her. I wish her well!
5
I deeply sympathize with Angel. However, from a background of a career working with patients like her, I think the emphasis of her (and your) quest is wrong.
The issue is not that “no one understands why this is happening” or “that getting a diagnosis still seemed to her like a long shot”.
This is 2018. How Angel would have been evaluated and treated in 1968 bears no resemblance to how she is evaluated and treated today; to doctors who will treat future Angels in 2068 what we now do will be archaic.
The point is that having a name for a diagnosis is unimportant. What is important is to understand, to the extent we can, the abnormal processes that cause the symptoms, their possible triggers, and the currently available tools by which doctors can intervene.
In my field (autoimmune rheumatic disease), the fact that two-thirds of patients have complaints that do not fit textbook descriptions of their diagnoses tells me not that they need more precise diagnoses but that our science is still rudimentary and that we need to understand the biology better.
So, yes, continue to look for environmental triggers of episodes, test for defective genes, and seek interventions that can prevent or ameliorate the symptoms, but do not worry about giving the diagnosis a name.
28
@Michael D. Lockshin
Your point is valid as far as logic goes, but does not acknowledge the value of this information from the perspective of the patient. Living with problems of unknown origin- be they cognitive, physiological, behavioral, structural, (especially when they continue to either intensify or fail to respond to treatment) is massively destabilizing to one's sense of control and place in the world. Every aspect of your lifestyle is questioned (different from investigated) to scan for your assumed role in creating the problem, the validity of your self-assessments is always met with skepticism, and as a girl/woman, your pain is never taken as accurately reported or serious. There's ample evidence in the literature to back this up.
Being dependent on the very medical system that sees you as a problem to be managed leaves you at the mercy of many individuals who truly don't care, and leaves you fending off accusations of reveling in the "benefits" of victimhood.
Anyone with a vexing condition can tell you that having a name for what is going on in your brain and body is almost as much relief as any symptomatic treatment. You can place yourself in a context, shake off the accusations of malingering and personal weakness, and make a plan for the future. Surely anyone with cancer can attest to this.
27
@Michael D. Lockshin
Have you walked this talk yourself?
There is no better way to "understand the biology better" than using our 21st century exome-level technology and knowledge to get to understand and manage diseases and disorders. To help very young women like Angel, quite literally living in the desert, to be as healthy as she can be. Physically aware of her unique needs and mentally settled as she can become.
To really help her decide on whether it is wise to cut off what she may decide are bad DNA and, maybe, adopt or help support friends kids and return to a quieter home space?
Until a person has lived personally or close friends and family in this unending nightmare, let us not be too casual about judging what is and what is not important to one woman and her family and their future. "Do not worry about giving this diagnosis a name" may not be in their DNA.
7
@ann Yes! Or the Lyme Disease that took 8 long years to diagnose. No cure, but at least I have a name for my horrible symptoms!
7
I don't know enough about the medical part to be able to have any suggestion here (although if there's one doctor who's exceptionally brilliant when it comes to autoimmune diseases that don't fit existing boxes and that I would advice, it's Prof. Saint-Rémy, Lambermont hospital, Brussels).
So I'll just focus on how to deal with the pain. Jon Kabat-Zinn's MBSR 8-week program (created at MIT, now available almost anywhere) has been scientifically proven to work. A similar approach can be found in Vidyamala Burch's "Mindfulness for health", an 8-week program designed for people with chronic pain.
Scientific studies have shown that there's primary pain, and then what is called the "second arrow", which are all the thoughts and emotions caused by the primary pain in the brain. Secondary pain is making up most of our pain experience, and with the right kind of exercices, can often almost completely disappear, making the experience of pain much less intense.
At the same time, mindfulness meditation has also already been proven to strengthen the immune system, and as apparently Angel has moments when she's doing okay, her immune system is already able to stop the symptoms all on its own. Maybe this kind of deep reinforcing of the immune system can make her less vulnerable and postpone the next crisis a little bit ... ?
Finally, there's also Mindful Self-Compassion training, which simultaneously helps nurses/doctors to keep an open heart with patients...
Good luck and take care!
7
I don't know about a connection with rhabdomyolysis, but I experienced excruciating pain after a severe fracture and bone loss. It was diagnosed as RSD, Reflex Sympathetic Dystrophy, now called CRPS--Complex Regional Pain Syndrome. Although the fracture/bone loss was in left wrist and hand/arm, the pain affected entire body. Even clothing touching my body was unbearably painful. This pain persisted for many months.
Since she has had several episodes, it may be genetic in origin. Perhaps something to do with glycogen metabolism? It might be helpful to test for enzymes involved in glycogen metabolism or their metabolites.
3
My 15 year old son is going through something similar. He had three episodes of rhabdomyolysis this summer with CK levels of 60,000, 88,000, and 25,000 respectively. (In the third instance, we took him to the ER as soon as his muscle pain started, but even on the IV, his CK levels rose to 25,000). The first two "rhabdo" attacks were without obvious triggers, but the third appeared to be triggered by a viral illness that caused him to have a temperature of 101 degrees. He also has had complaints of sore muscles for several years. Fortunately we live in an area with excellent academic pediatric hospitals. We were quickly guided to testing and a diagnosis of myopathic CPT II. I see that many already have commented to suggest that Angel may have this metabolic disorder. Certainly her experience sounds very much like my son's. My understanding is that DNA testing can confirm a CPT II diagnosis in most instances-- but there still may be additional mutations, as yet unidentified, that can cause CPT II. If Angel has CPT II, it is manageable with a modified diet and supplements. Best of luck to her in figuring this out. Lilke other readers, I am impressed with all that she has accomplished while struggling with her mystery illness.
34
Sound like acute intermittent porphyria.
2
@Peter Bresler This was my thought as well.
2
I hope Angel’s nursing job doesn’t exacerbate her condition. Nurses typically work long (12 +
hr shifts), with few-to-no breaks to eat and rehydrate. And with hospitals chronically understaffed, management often neglects the needs of their caregivers. I wish I’d been better at caring for myself over the years, worked too many shifts hungry, dehydrated. To stay healthy, I’d encourage Angel (and all new nurses) to insist on getting your needed breaks.
11
Try coenzyme q-10.
Drink hard water rather than bottled ditilled equivalent, or at least track source of fluid intske.
A Longshot investigation could include functional vitamin testing.
Not my field, but I agree with the calls for whole genome or exome sequencing. Also should consider sequencing mitochondrial DNA.
1
Yeast infection perhaps? Avoid sugar, carbs, try monolaurine?
from a retired medical attorney:
Invitae CEO Sean George for both whole genome sequencing and genomic/genetic analyses.
Never a client. DO own $9K of stock.
Was Angel ever treated with Cipro or related fluoroquinilone? There are some vicious reactions out there -- check research at UC-Santa Barbara. Good luck!
9
@R.C. Masters I had this same reaction to Cipro. My feet and legs twisted into painful and bizarre contractions that did not seem to be even possible. The condition eased a few days after stopping the medication. I could certainly be wrong, but I doubt that this continued for years unless the medication was used repeatedly over this period of time.
I hope that a solution can be found for this young woman and that she can live her life without this disabling condition.
2
I had a vicious reaction to Septra decades ago- vomiting immediately after taking, flu-like symptoms, and muscle and joint aches that lasted years. I was wondering if Angel could be allergic to sulfa?
Lots of exercise, muscle pain, dark urine, and better after intravenous fluid administration. Sure I look stupid, but seems like she doesn't drink enough fluids, or doesn't absorb them like you and I. It's a common problem in the elderly who lose their thirst.
Don't mind me. I'm not a health professional but I have some experience pleading with my deceased mother to drink fluids for years.
Sorry if I look stupid, but I'm just here reading passing time.
4
Did this condition start after receiving the HPV vaccine?
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5406435/
https://www.ncbi.nlm.nih.gov/pubmed/25990003
1
Hot Climate.
Lots of strenuous exercise.
Dark urine.
Muscle pain.
Intravenous fluids alleviated symptoms.
Sounds like insufficient hydration along with trouble absorbing fluid intake by mouth. Digestive tract disorder?
1
Hummmm, she and her boyfriend have friends and family in Seattle....?
No offense to the medical community in Las Vegas, but I can’t help but wonder if she might find answers within the leading medical facilities in Seattle - many world renowned (University of Washington Medical Center, Swedish, The Hutch, etc)? Just a thought...
Any road..........
So sad, her suffering. Wishing her all the best...
4
Check LDH levels for genetic mutation.
See link for description
https://ghr.nlm.nih.gov/condition/lactate-dehydrogenase-deficiency
They may fluctuate so have a few blood tests done over time.
1
Perhaps this young lady lives in a house that was treated with organophosphate pesticides, or lives near crops being treated with them
6
Has someone suggested polymyositis caused by
sjogren's?
1
Just taking a guess here.
GENETICS.
1
two additional thoughts with this added information:
To look for genetic or genomic, contact Sean George at Invitae. The top worldwide experts for figuring out the right questions and offering the broadest DNA-based analysis and information. I'll forward this story both.
from a retired medically-trained attorney:
Please consider a nursing role that uses your brain . . .not your back. With 44% of our population morbidly obese and many showing up in our ERs and inpatient beds, only the VA has modernized facilities and retrained front-line caregivers to make nurses and aides physical labor ergonomically safe.
None of the private-sector or state and local hospitals have done anything to make patient care safe for its professionals and aides. The George W Bush administration gave private sector hospitals an explicit and complete pass on complying with any "ergonomics" rules for hospital employee safety.
Please. Use your brain and not your back. If your BSNRN degree or license requires hands-on time with patients akin to physicians residency requirements, ask for and get a "medically necessary" waiver. You've got legions of medical and legal professionals to support your waiver request!
IF you honor your body's signals and cannot do any RN-level work over any routine work day (never nights!), consider using your training and problem-solving skills in a related field, e.g., Genomic Health's in-house or in-field interlocutor with physicians and patients.
14
The dark colored urine and pain in the abdomen and elsewhere sound like symptoms of acute porphyria.
3
I see one other person has posted about equine rhabdomyolysis and PSSM/EPSM. I think that Angel could try the type of diet changes recommended for horses with this problem. The cause of the problem in horses is the inability to metabolize glucose for energy and muscle building. Many horses experiencing rhabdo and other muscle pain/disorders are being fed a lot of grain. Many horses suffering from these conditions have completely recovered by eliminating grain from their diets and gradually introducing fat as a source of energy. A typical diet for one of these horses would be plenty of grass hay with 1-2 cups of vegetable oil poured over the top. The goal is to get 25% of daily calories from fat. I owned a horse with this problem and once we changed his diet, everything got much, much better. So, for Angel, avoiding all grains, and eating a low-starch, high-fat diet might be worth trying. Of course, transitioning slowly is important! For more info on the issues in horses and the diet recommendations, check out this link https://equusmagazine.com/diseases/epsmdiet110503 and this one: https://www.ruralheritage.com/vet_clinic/epsmdiet.htm. Dr. Beth Valentine is one of the leading researchers in this area and I was lucky to find her when my horse started having problems.
13
I would suspect myoadenylate deaminase deficiency. Why? I have it. It is quite common, and is a leading cause for intermittent rhabdomyolysis and myopathy. Unfortunately, few clinicians have even heard of it. When I was 14 years old, I became dehydrated after soccer practice and I collapsed, unable to walk. After some careful sleuthing, a muscle biopsy and an ischemic forearm test, it was diagnosed. It sparked my naisent interest in medicine, and my eventual career as a combined internist and pediatrician. Here is the link to omim.org:
http://omim.org/entry/615511?search=myoadenylate%20deaminase%20deficienc...
As simple muscle biopsy would suffice!
I enjoy all types of physical activities, but I have learned how to listen to my body, and above all else, hydrate!
22
I have a lady in my practice with a similar clinical presentation. She seems to have an inherited metabolic disorder. Some of her siblings also have the problem but to a much lesser extent . Our diagnosis for her has been Recurrent Idiopathic Familial Rhabdomyolysis. She first came with severe muscle pains after running a race at school at age 15. Her CK was more than 120,000.
9
Has she had a bone density test and sonogram/xrays of the muscles? Pain this severe could suggest non-traumatic myositis ossificans.
Not a doctor here, and while this is certainly not the classical presentation, I haven't seen any mention of sickle-cell disease. Worth ruling out?
1
Weird
Crowd sourcing a diagnosis
Equal equivalence between physicians and the “man in the street” ‘s experience.
No need for med school or residency any more.
4
Have you tried plasmapheresis to remove possible auto-antibodies that might be causing this problem?
1
I don't see a second or third medical opinion in the article. This is not in my specialty (I am a retired physician). But there must be others she should consult with.
5
I'm surprised that since she is a female that some doctors have not written it off as 'being all in her head'. This is more common than we know. Women's physical complaints are often treated as such, a mental issue alone. Constant physical pain and other problems can actually affect one's mental state if not treated.
5
@WM “all in your head”happens to men too. My husband complained for 16 years to various doctors about a pain in his side. Finally a WOMAN doctor order a scan. A lap sponge had been sewn up in him after an appendectomy.
4
Did you rule out Mccardle’s disease? She may have an issue with myophosphorylase enzyme activity. Usually congenital but she was young when symptoms started.
3
The whole idea that crowd sourcing medicine seems like an invitation to disaster. This column is training a vast swath of the public to post symptoms and trust random strangers’ advice.
There are few people who haven’t got some symptoms by the time they get to middle age. Now how many are going to consume how much medical care chasing crowdsourced ideas.
The Times is setting dangerous trends with this series.
6
Dear Angel,
It seems clear that you have a chronic condition.
Many people have chronic conditions like diabetes or sickle cell, that they must learn to manage or they suffer pain, illness, and may damage organs and decrease their longevity. This article gives the impression that your way of managing is by going to the hospital. There are ways to gain some control of your condition such as stopping activity as soon as you feel an inkling of an onset. An expert in rhabdo can train you to better manage this condition such as by staying hydrated.
There are rare genetic conditions that may be the cause of your chronic condition; likely, however, there is no current cure, yet the future may offer such. So, a genetic sequencing and geneticist review is in order.
There may likely be triggers to your rhabdo episodes as there are to many chronic conditions. In order to identify these triggers, you will be best advised to maintain a strict daily log for 2 months of everything you ingest, your activities, sleep, menses, medications, sex, rhabdo episodes, etc. (eg. statins and grapefruit juice can cause rhabdo).
Perhaps, consider finding out how well your kidneys are functioning now after all those rhabdo episodes.
If you plan to have children, you might want to find out how to prepare your body for pregnancy and childbirth.
Best wishes for a healthy future.
4
Has her and her parents DNA been sequenced? She may have an autosomal recessive mutation or deletion. There are many bioinformatics tools to assess her genome once sequenced.
1
Has she been tested for carnitine palmitoyltransferase II deficiency? It is autosomal recessive so would not obviously be an inherited disorder. Deficiency of the enzyme results in the inability of cells to use certain fats to make energy containing molecules. The myopathic form presents in childhood (as opposed to the lethal form that presents in infancy). With CPT II deficiency, attacks can be brought on by fasting or infections.
The periodic paralyses typically do not cause rhabdomyolysis or pain. Her history is not suggestive of malignant hyperthermia.
3
@WJ CPT2 is autosomal recessive genetic condition. So both parents would be carriers but not afflicted. Avoid NSAIDs for pain relief.
Would consider periodic hypokalemic paralysis, which occasionally causes rhabdomyolysis. Hypokalemia may be masked by cell lysis and disease may be sporadic. Specialized EMGs can be diagnostic.
10
If this is brought on by fatigue, perhaps it is a sleep disorder, or an aggravating factor. Perhaps something like 5htp would help. As muscle repair and protein building occurs during sleep cycles.
I am not a doctor so this suggestion may be stupid.
I would suggest keeping a thorough log.
What triggers attacks.
Does any activity trigger.
Keep a complete record of EVERY food /drink eaten /drank.
Have a complete medical examination performed by a medical doctor who is an expert on inborn metabolic diseases.
16
@david In fact, I am a physician, and your suggestions are excellent. Please see my comment above.
5
I would suggest that her DNA be sequenced with a focus on muscle-related genes. It’s possible that she might have an acquired genetic mutation that might explain her idiopathic recurrent rhabdomyolysis. It seems her parents do not have this condition, so her DNA could be compared to theirs for any differences. Next generation DNA sequencing is much cheaper these days.
Autoimmune inflammation appears unlikely since autoimmune myositis generally results in weakness (not rhabdomyolysis).
I assume that a muscle biopsy, autoimmune serologies and nerve conduction testing have already been done.
3
Very, very common. No, not the young ladies affliction, but the fact that after more than 2 dozen hospital visits and seeing numerous doctors, no one can diagnose, repeat, diagnose, her condition.
No one can promise a cure, but to go this long without a diagnosis happens all too often to patients today.
9
There is A LOT of crazy in the comments section. Some of it well intentioned and some of it just flat out nuts.
This woman clearly has a disorder of muscle physiology and/or metabolism. Porphyria had crossed my mind and I was also very interested in her muscle biopsy results (beyond 'normal') and what, if any, specific genetic testing had been done.
There are some excellent suggestions here re. CPT, McArdles, and MH. Will be following to see the outcome, and best of luck to the patient.
MD
12
I agree with Dr. Carson reply. She may have malignant hyperthermia, which can be confirmed with a muscle biopsy to perform a muscle contracture test. Usually malignant hyperthermia can be triggered by certain anesthetic agents. However some patients can experience spontaneous episodes. And it can be genetic as an autosomal dominant disease. It is a problem with abnormal calcium channels of the sarcoplasmic reticulum. Malignant hyperthermia is associated with the muscle diseases of dystrophinopathy, phosphorylase deficiency, mini ore disease, myotonia, and King-Denborough and Barnes myopathies. An elevated resting creating kinase level may be detected. A hotline phone # (800) MHHyper.
I’m assuming she has seen a geneticist. I would hope she’s seen several.
7
Angel should keep an extremely detailed diary. An allergy doctor I once consulted had long suffered from debilitating headaches. By keeping an extremely detailed diary he discovered that his headaches occurred 24-36 hours after eating chicken or eggs. When he eliminated them from his diet, the headaches stopped. Allergy tests showed no sensitivity to chicken or eggs, so he must have been troubled my some intermediate metabolic product. The same may be true for Angel.
16
Angel's situation really tells you a lot about how medicine is practiced in our country.
The Times, effectively, through reader contributions, created a data base of information about possible underlying causes. Does our medical industry build databases to help treat patients? In my experience, the answer is an emphatic NO! In fact, every doctor I have ever encountered, makes sure the only audit trail on the line of treatment they pursued, is their own illegible hand written notes.
The real reason we need a single payer health care system, is that when the government is paying for everything, there will be a motivation to use our resources in an efficient manner.
More efficient, means eliminating problems whenever possible; not using peoples problems as the basis for building a profit center. Under our current system, every physician comes with zero motivation to provide good care, and a burning grudge to get paid back for the cost of their schooling.
30
Numerous companies are building databases to sell to health systems, physician groups and patients. Companies collecting blood and saliva to test for Genetic conditions (23 & Me, Myriad, etc) are collecting valuable data to use to create therapies by selling genetic data to pharma companies.
@Peter Zenger, Hospitals and doctors also do not dare share their mistakes, ever. Therefore they are repeated over and over again within the medical 'industry'.
2
Your comment is both ill informed, illogical and incorrect. Patients cared insured by the government - Medicaid / Medicare certainly have no better chain of information, are entangled in a morass of bureaucracy and have records exactly the same as everyone else. Further, doctors hand write records in 2018 < 20% of the time.
2
An uncommon form of rhabdomyolysis occurs in anesthesia. It may have been mentioned, but there were so many comments that I may have missed it. It has been suggested that this can happen without being triggered by the drugs. A specific and pretty safe treatment and prophylaxis is a drug called Dantrolene. She should almost certainly have this before any anesthesia, and I would be tempted to give her the oral form as a sort of diagnostic trial.
6
With onset at 14 I wonder if there is a hormonal issue at play. I wonder if her episodes correlate to a particular part of her menstrual cycle. Just some thoughts that others may be able to work up into a coherent diagnosis.
13
I had a patient like Angel. I sent him to see DR. Knochel in Dallad TX,I believe. His diagnosis was related to inability to use fat in the diet. I do not remember the details but placing him on a specific fat diet resolved the problem.
I wish I could be more accurate but this took place about25 years ago
5
Keeping in view the chronicity and periodicity of the episodes of rhabdomyolysis one diagnosis that comes to my mind is hyperkalemic periodic paralysis.High blood potassium levels are a know n risk factor for rhabdomyolysis.I wonder if she has ever been worked up for this diagnosis.
8
@Dr.Junaid Ahmad Wali
Sorry its hypokalemic periodic paralysis and hypokalemia is a known cause of rhabdomyolysis..
Her history seems consistent with McArdle disease, also known as Glycogen storage disease type V, an autosomal recessive disease characterized by exercise-induced muscle cramps and pain and episodes of myoglobinuria and rhabdomyolysis.
12
Having a chronic condition that is not diagnosed can be quite debilitating. Angel seems to have a positive attitude that will help her immensely! I was diagnosed with McArdle's syndrome which is caused by the muscle's inability to break down sugar. It results in muscle pain during exercise which can cause severe rhabdomyolysis. If a person with McArdle's exercizes slowly until reaching the 'second wind' stage where the muscle starts breaking down fats, neither the muscle pain nor rhabdomyolysis occurs. This is a genetic disorder that can be diagnosed through gene testing. Don't know if this or other metabolic disorders may be related to your illness.
13
Researchers just recovered a genetic mutation that causes acute myositis in one breed of horses. The on-set is sudden , as most of you know Rhado has been a problem well researched in horses and has been studied in a way that can't be done in humans ( autopsy). Since its not rare in horses and there is a lot of money involved there is more research being done than in human studies.
Interestingly the mutation can be triggered by trauma, stress or vaccination.
If I were this women ( i also have undiagnosed illness) I might be working with veterinarians at a research institute as they may have interesting ideas about this type of illness .
Also Exome testing is also a good idea but there's only a 10% chance of finding a mutation. However your DNA is stored and as new studies and findings are discovered you DNA may be re-tested. Things are changing fast in genetics and if traditional medicine can't help you look elsewhere.
8
Carnitine palmitoyl-transferase deficiency (CPTII), Deficiency of very-long-chain acyl-CoA dehydrogenase (ACADVL), or RYR1 mutation. In all 3 disorders, rhabdomyolysis is triggered by exercise, medication, and fever/infection. Do a gene panel for all 3 genes, and possibly other related genes based on insurance coverage for testing.
11
@Aaron. I'd start with genetic testing for CPT-II deficiency. In the meantime if this is the underlying cause, be sure and eat carbs every 3-4 hours. Keep hydrated (drink water). Don't run marathons. General anesthesia can also cause rhabdo. Never fast.
1
@Aaron EXCELLENT see my comment above
I do not recall the original article stating that there was a recurrent history of dark urine, which would have made rhabdomyolosis a likely diagnosis. I assume that laboratory data to date has ruled out most of the entities suggested by both MDs and laymen. CPT assay in the old or a new muscle biopsy might be revealing. Although I'm a retired neurologist and cannot come up with another suggestion, I think it's highly unlikely with the repeated bouts of dark urine that this woman's problem is determined by emotional or psychological factors, as suggested by one MD.
3
Hello
There is a functional medicine department at the Cleveland Clinic in Cleveland Ohio. That Department is one of two functional medicine departments at a major American medical Center, the other being located at Cornell university. I have been to the Cleveland clinic, which uses a functional medicine model to explain medical conditions that are undiagnosed. That model posits that they were three causes for illnesses an individual level. The first is genetic. The second is environmental, that is to say exposure to toxins in the environment. The third is diet. Cleveland clinic has specialist in individual fields like oncology, urology, and gastroenterology. They also have cross training into more than one field like oncological urology. Each of the doctors works with the dietitian to develop a dietary and exercise program to an individual patient. Each of the doctors works with the dietitian to develop a dietary and exercise program to 50 individual patient. They also have an excellent program allowing you to submit your records via the Internet. Best of luck. Don’t give up.
7
It less likely to change her treatment, but if CPT2 and other targeted genetic testing is negative, she could try to find a researcher interested in whole exome sequencing.
1
I would seriously look at a potential parasite/protozoa/fungal infection. Because of the cyclical nature of these organisms and the difficulty identifying them in your system once they scatter you may not always find them. American doctors are not always well trained in these areas so perhaps an infectious disease specialist. I struggled with them and had several debilitating symptoms that would always seem worse in the spring early summer. Since beginning a protocol my health has greatly improved. Good luck and hope you do better soon.http://cmr.asm.org/content/21/3/473.full
2
Has she had her DNA sequenced?
4
I to have unexplained stabbing muscle pain, mostly in my legs and toes during and after exercise and sometimes just out of nowhere. One thing that my DNA test revealed was that I have something called an AMPD1 gene which less than 1% of the population has. Those who have it have more than normal muscle pain during and after exercise. The only thing that has been found to help, and not for everyone but for a percentage of those who have this gene, is a sugar called d-ribose. I believe it’s helped me some, not entirely and like you I am still searching for answers. MAYO clinic is going to be my next stop. Fingers crossed.
6
Perhaps this young woman should consider getting her entire DNA sequenced, to look for a relevant mutation.
4
@ML
Your suggestion of Whole Genome Sequencing is a good idea. But it will help us only if another patient in the world has identical illness and that patient also gets Whole Genome Sequencing. Your suggestion is a good beginning. Once we have hers, we can compare with that of another current or future patient with similar or identical illness. If this illness is genetic, we will find the answer.
3
Often, rhabdo is caused by interruption of blo
od supply to area. Wondering if she might be having tiny infarcts: clots that stop blood flow to a specific muscle. Coagulopathy? Hoping she gets relief soon!
I suggest massage therapy to calm the nervous system. Ask a doctor, then find an LMT who is certified in lymphatic drainage.
2
Go to Mayo. And do not let cost stop you. Mayo has many financial programs to help all people. And no, I do not work there. Good luck!
8
@Vicki Hensley
The Mayo Clinic is an 'Ultimate Referral' - you cannot be 'discharged'
from its care without a clear, firm diagnosis.
4
My initial comment in the last discussion about this patient was please give us all the )potentially) relevant data. That still isn’t provided in the article.
Has she been tested for any of the conditions suggested by commenters?
That would be nice to know...
Steve Rinsler, MD
3
@Stephen Rinsler
That is my observation too. Not all of the data is available. It’s selectively presented and is what makes these articles just another form of interactive entertainment for the NYT readership.
The producers aren’t seriously interested in obtaining a diagnosis for a patient, obviously not their patient, but rather are more intent on milking the situation for entertainment and popularity value.
2
Come out to OHSU, Oregon’s premiere teaching hospital, I am also curious to know if Mayo Clinic in Minnesota examined you. Best of luck and congratulations on your nursing degre.
3
I am certain that this issue has been raised.
I am currently on a fast from my statin medication.
Currently taking a generic form of Crestor, during the past year a form of Lipitor.
I have had to leave work twice and have taken two extended stays from my job of 1 to 2 weeks.
Whatever the function of the statins that causes muscle pain, it is alway different each time, presenting in different muscle groups.
If you are able to understand what makes a statin cause this pain, and cramping, it could be similar in structure to what is causing Angel’s pain.
Great sympathies to this girl.
1
The condition the patient suffers from shares symptoms with an illness in horses known as PSSM, in which excess glycogen accumulates in muscle cells. Researchers have discovered a gene known as GYS1 in horses, which is also part of the human genome. Mutations in GYS1 have been linked to PSSM in horses. Researchers think that it is possible that mutations in GYS1 can also be linked to glycogen storage disease in humans. Please see a complete explanation in this article from the University of Minnesota entitled "Horses hold clues to human disease", published April 1, 2011. Here is a link to the article: www.futurity.org/horses-hold-cues-to/human-disease. Best wishes to Angel - I hope this information helps!
2
Link doesn't work try horse.com
1
Have not read all comments I hope that this suggestion is not redundant. Angel and her parents show get "either whole exon" or whole genome sequencing (so called trio DNA sequencing) in order to determine whether she may have a rare known autosomal recessive disorder or possibly a novel autosomal recessive disorder
3
Two suggestions of where to look:
1) Google something called Neu5gc. It's a kind of sugar molecule that's found in mammalian meats, so if Angel eats beef, or pork or lamb this could be an issue. Put simply, we humans don't produce this sugar molecule as part of our cells, but it's close enough to our own muscle cells that it can be incorporated into our own muscle cells which can trigger an immune reaction where the body attacks itself. Technically it's autoimmune, but it's a specific kind of autoimmune. It's often linked to Hashimoto's so if she's experiencing thyroid issues as well, there could be a link there.
2) If you're experiencing something mysterious like this, I think it's irresponsible at this point not to try medical cannabis. The endocannabinoid system is responsible for so many functions in the body that we don't understand yet, and it treats so many unexpected conditions. It's safer than almost any other medicine on the planet, so you should absolutely try it. If you don't want to feel high, try a strain of cannabis that's high in CBD and low in THC. CBD is incredible and it deserves all the hype it gets, but honestly THC has just as many medical benefits so you should try and get some of that too. It may not help, but there's a decent chance it might do something for you, and it really doesn't hurt to try. There's only upside to trying it.
Good luck Angel! Take care.
9
@Nick Towne
I second the medical cannabis suggestion!
There’s about to be another medical revolution once the world sheds its religiously-based mythology that treats cannabis with fear and flat-out ignorance. Even if it doesn’t cure, it may ameliorate symptoms, like it does with epilepsy, and lessen the severity and frequency of attacks.
And yes, no need to get high. There are powerful strains high in CBD with virtually no THC that leave you pain-free and stone-cold sober. I’ve tried some and can attest to that fact.
7
@left coast finch Very true!
Please share the additional diagnostic testing that has been done.
4
The article mentions a Netflix series? Say more.
1
Has her doctors contacted the Undiagnosed Disease Network?
1
It would be of interest to hear which diagnoses have already been ruled out e.g. CPT disease as mentioned by several commenters.
3
Firstly, I wanted to congratulate the young woman for living her life despite this recurrent and frustratingly enigmatic condition.
As to possible causes, a very recent (only epub right now) article by Sambuughin et al. entitled "Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis." in Mol Genet Metab Rep. (2018 Aug 1;16:76-81. doi: 10.1016/j.ymgmr.2018.07.007.
eCollection 2018 Sep) might offer some insight into candidate genes and mechanism.
Apart from other genetic factors that may or may not be influenced by treatment, here an endocrine one: Systemic hypothyroidism (too little thyroid hormone) can lead to rhabdomyolysis and ensuing kidney failure. In fact, patients with low thyroid hormone are especially vulnerable to this known possible side effect of statins. I just recently also learned (never stops!) that we can have local hypothyroidism, i.e. insufficient T3 levels only in certain tissues, likely due to altered activtiies of some key enzyme (deiodinases D1 and D2). Such local hypothyroidism wouldn't really show up in any standard (and even non-standard) thyroid function tests, as they usually look at blood (systemic) T3/T4 levels. However, such local hypothyroidism may cause similar damage in the affected tissue as systemic hypothyroidism can, but escape even a thorough endocrine workup.
Hope at least some of this is helpful.
Best wishes to the patient!
2
This was my original submission.....was it ever checked out? I reassessed and stand by my hypothesis.
Stopped my review when report from second hospitalization made the assumption that patient's recent strep (occurring before first episode) was treated with rocephin vs bicillin. In fact, the patient was treated with bicilin. I will assume this unverified assumption carried through all subsequent clinical diagnoses. Rhabdo most likely the direct result of bicillin.
3
Repeat the muscle biopsy and send it to Dr. Steve Moore at the University of Iowa:
https://medicine.uiowa.edu/pathology/content/dr-steve-moore-university-i...
4
Has she been to Mayo
3
I am wondering if the WATER this young woman is drinking has the balance of minerals that her body needs. Perhaps due to a genetic or metabolic condition she needs a particular mineral balance to keep her muscle tissue from breaking down. I know Las Vegas has a very sophisticated water system and would suggest exploring what water she has been drinking since childhood and what the mineral profile is.
1
I suggest G.S.D.V. (Glycogen Storage Disease Type V), also known as McArdle disease. It is very rare, and my son was diagnosed with it this spring. All the symptoms fit. If she hasn’t yet had genetic testing for it, I highly recommend it.
For more information: https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-v
2
IT would be great to be able to synthesise such a range amount of crowd sourced data through a design thinking lens.
As a current sufferer of LGI1, undergoing plasma phoreisis and othr autoimmune trteatments for neuropathy, I can empathize with the patient's frustration. Mine, I believe, was brought about from a liver collapse innitiated from an augmenton overdose releasing an underlying autoimmune issue. they occurred concurrently but the antibiotic was prescribed for a severe bronchiel condition. I was/am a confusing issue from the beginning because of the concurrent issues tht innitially presented themselves simultaneously. So, I would suggest resurecting your timeline, if posible, so as to sort the possible cause, if necessary so as not to get sidetracked; and as the patient said to the doctor, "Dr., it hurst when I do this, and the dr said, so don't."
Try to keep a sense of humor. I'm told things could always be worse like getting hit and killed crossing the street. So, In my present condition, struggling to seek relief, I say to the wife, "Hey, the cards could have been in the closet, the insurance in the bank, everybody moving on. Instead, all are dealing with the trauma of an accute neuropathy sufferer. Now, how much you love me?"
4
McCardle's DIsease -
She is unable to cleave glucose from her muscle glycogen stores due to a deficient enzyme myophosphoralase. When her muscles need extra glucose during exercise, none is available, and myonecrosis results
1
Looks like my comment wasn’t published so trying again.
Sounds like Carnitine Palmytil Transferase deficiency and specifically “CPT2”. There are a few hundred known cases. Can be be tested for in a biopsy most typically by a Neurologist. A couple of MDs on this board said the same.
Have personally seen acute episodes of Rhabdo from this with CK counts over 100K. Normalizes within a few days with treatment once past the acute phase. Consistent known triggers: long periods of high fever is one but exercise without sufficient calories is primary. And also very manageable between episodes.
If this sounds familiar am happy to share ways to manage if this ends up being it.
1
@Evan Your earlier post is there, under the name cpt.
Carnitine palmitoyltransferase II deficiency... Fits in like a glove. Please perform genetic tests to confirm.
4
Congratulations April on competing your nursing degree. I am sure you are a fabulous nurse due to your own personal experiences with the health care system I hope you are able to get a diagnose and treatment plan very soon. Thank you for sharing and I look forward to watching your journey on Diagnosis on Netflix.
1
Genome sequencing worth a try. Look for loss of function variants.
1
Consider McArdle disease (glycogen storage disease type 5).
McCardle's Disease -
She lacks a muscle enzyme, myophosphorylase, that allows glucose to be cleaved from muscle Glycogen stores during times of exertion. When her muscles need extra glucose during exertion, none is available to them , resulting in painful myonecrosis and myoglobinuria.
8
Was she treated at any time with a fluoroquinolone antibiotic? Some people have a bad reaction to them and it is called getting "floxed". I thought of it because I thought I had seen rhabodomyolysis mentioned. I have an autoimmune disorder and other chronic health issues and encountered frequent stories about people who have had fluoroquinolone reactions, as there are many overlapping symptoms.
Here is a citation - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4997698/
I just read a quite moving account of a young man recovering from fluoroquinolone reaction:
https://floxiehope.com/bretts-story-levofloxacin-toxicity-and-recovery/
Good luck to her - whatever it is, I hope and pray she finds the root causes and a way to recover her health.
5
First of all, thank you for this series, Dr Sanders. The gratification of practicing medicine is not limited to wealth and fame.. :-) Seriously, many of us love a good mystery to solve and going to bat for our patients.
Reviewing material I have access to (and having no expertise or experience), this must be a metabolic myopathy. While it doesn’t sound like a disorder of glycogen metabolism, Angel may benefit from keeping a diary of carbohydrate intake to see if there’s a correlation with symptoms. And my lack of expertise may show, but could she be heterozygous for a typically autosomal recessive disorder, or (really a stretch now) a genetic chimera?
Because some of these diseases can lead to progressive debility, I hope Angel will persist in pursuing a diagnosis. Clearly she needs someone with expertise in these diseases, almost always found in an academic center.
Just a minor quibble about some verbiage in the original article. I don’t doubt the two muscle biopsies were normal. Yet I’ve had patients hear “there’s nothing wrong with you” after telling them a test was normal. And I diagnosed one ultimately fatal cancer whose diagnosis was delayed over a year because a first biopsy was nondiagnostic due to a clear sampling error while the patient understood it to be “normal”.
5
Crowd sourcing for money is one thing. For a medical diagnosis, I'm not so sure. As a last resort, better than nothing, I suppose. I hope this woman has competent medical help her to filter this barrage of suggestions. I have felt overwhelmed the few times I was careless enough to override my best senses, and to google my symptoms for problems far less serious than this woman's. I can't imagine the effect of 2000 suggestions for my ills. I know two heads are better than one. Are 2000 better than one?
1
From the peanut gallery --- has she tried to correlate what she eats, and drinks to the episodes. I mean every meal, every morsel. And time of meals, are they on the same schedule. Not a food allergy thing as commonly understood but something more unique. Your asked for a straws ---
Scurvy
1
You may want to look at Alkaptonuria as a direction to go in. I believe this was discovered at John Hopkins. I hope a cure is found.
Porphyria?
Has she been checked for parasites via a full spectrum of lab tests (stool, blood, etc) and CT scans? She may have a severe parasitic infection.I have suffered chronic infections that doctors cannot figure out. Luckily, I stumbled upon Gerson therapy, particularly coffee enemas. As soon as I started doing coffee enemas and an occasional liver flush, I noticed many unusual forms that turned out to be liver flukes and other worms. I am now on an herbal parsite cleanse (clove, wormwood, black walnut) along with the Gerson method coffee enema and I feel so much better. I highly recommend that she not only gets tested for parasites but tries coffee enemas and perhaps a full Gerson therapy protocol. Coffee enemas are particularly useful for chronic conditions that doctors cannot figure out, as it detoxifies the body and allows an overwhelmed liver to release toxin. I hope this helps.
1
Has she had an HOV shot, or other series of aluminum containing vaccines, in temporal proximity (before) the pain became worse?
Does she drink milk or eat dairy products? Rarely, but some folks can suffer extreme muscle pain from the lactic acid. I hope she can get a diagnosis.
1
I would recommend exploring the work of Anthony William, the Medical Medium. He has written several books and trained several practitioners in his natural protocols for healing what he calls “mystery illness” that conventional doctors are not able to treat. I am not trained in this method but have used it for almost three years and found it remarkably helpful in healing chronic disease states. For Angela’s muscle pain, one possibility (using Anthony William’s) work, is Epstein Barr virus. Mr. William has healed thousands with his natural and safe methods. I hope you don’t give up and wish you well.
2
Drink 3 quarts of water a day, get lots of exercise, and distract the heck out of yourself by any means you can when you can.
To be fully hydrated, constantly improving in muscle tone, and free of direct stress by distraction is a proper starting position for self examination. If you are to be sick, be sick while doing what you can to strengthen yourself at the same time. This "I am fighting" response will be beneficial psychologically, and the increased blood flow can promote whatever healing your body is capable of on it's own. Do not lay around, you will roll downhill.
I don’t have any thoughts on diagnosis but has she had a thorough evaluation at the Mayo Clinic in Rochester, MN? I would assume yes but if not, have had numerous friends who couldn’t get a diagnosis on long term issues and went to the Mayo with huge success.
1
porphyria?
This sounds like CPT2 to me (Carnitine Palmytil Transferase deficiency). My understanding is that the confirmed case total is 'in the hundreds' but I happen to be one of them. Discomfort to be managed, yes, but Rhabdo is the thing that matters. I've seen acute sessions with CK counts well over 100K which obviously you need to get in front of quickly.
Diagnosis can be confirmed via biopsy or culture, typically at a Neurologist. Known triggers are exercise, particularly on low calories so need to maintain ready supply of energy via diet. Also high fever particularly when it lasts a while -- which may explain some of the episodes coinciding with medications mentioned.
Happy to trade notes on management if it is confirmed.
8
Just noticed that someone (not me) has a blog describing their symptoms and experience here: http://www.cpt2.me/
Check it out and see if there is resonance.
@cpt. Muscle biopsy may be normal, even during an episode of rhabdo. Get tested for the gene mutation(s) that cause CPT-II deficiency. Or just eat more carbs and don't fast over 4 hours unless you're sleeping or resting. Googling shows lots of info.
1
@Steve yes was suggesting muscle biopsy to test for the mutation as it wouldn't be impacted by a Rhabdo episode. Or whatever other genetic testing option is easy.
Diet is one part of managing it, but doesn't solve it alone unfortunately.
I just want to say I wish her the best and I hope she can find a path to wellness. Chronic pain is so hard and there are so few good paths out of it. Good luck. There is rarely an easy answer.
1
I don't know what they've looked at but pesticide or metal toxicity are possible causes: Wilson's Disease, chromium toxicity or pesticide poisoning.
1
Since at this point accurate diagnosis seems unlikely, and even if she had a diagnosis, having it may not affect the course of her illness, I'd suggest she try seeing a homeopath. Homeopathy from my experience often helps when all else fails. It also seems to be equally effective whether one believes in it or not. Diagnoses and treatment are one and the same thing in homeopathy. Based on the very limited case history presented in the article, I'd suggest she consider one of the following: Terebintha oleum, Arnica montana, and Secale Cornutum. Without a clear history, of course, guesswork is the best anyone can do.
2
@Samantha. I don't think so in this case.
1
Cases like these used to be shared in The Well section of the Times, It was "Think Like A Doctor." It is too bad some petty editor removed this column, it was very informative and educational.
52
@David Underwood
The author of this series, Dr. Lisa Sanders, was a medical technical adviser for the hit TV series "House, MD".
4
@David Underwood This column is the successor to "Think Like a Doctor," which Lisa Sanders, MD, also wrote. It's not a "petty editor" - it appears to have been a mutual decision to change the column.
5
@Aristotle Gluteus Maximus
Now that is a delicious piece of trivia!
I don't suppose the NYT will be paying her for the use of her photos and medical history in the pages of its publications but the Netflix program series is another situation altogether. The Netflix program is a profit making endeavor to boost their bottom line, to increase paying viewers and entertain the masses, which these NYT series articles are also, but they can claim an editorial purpose. Netflix is using her story for commercial purposes.
Educating the public is fine and dandy and a noble endeavor. I do it for free every time I write a comment in the NYT knowing that someone may take the hint and write an interesting, or money making, article based on my contribution. It's for editorial purposes. But if Netflix, et al., are going to making money from these patient's stories, patients of Dr. Lisa Sanders, then they should be making money too, commensurate with their contributions to the Netflix income from this series.
These people's medical histories will be the fodder of gossip and public discussion for years after the program is broadcast. They will be recognized by complete strangers.
It's also a violation of medical ethics and fiduciary law for a physician to profit from their patient's condition. Medical ethics aren't that important nowadays, but one could make a case for a violation of fiduciary law.
In my humble opinion.
9
@Aristotle Gluteus Maximus Thank you, I agree with you, and have wondered the same thing.
@Aristotle Gluteus Maximus, Silly point. Do you not suppose she signed a release form fully cognizant of all your very obvious points? By your reckoning every documentary ever about any unusual medical subject is some money-making scheme. How do you know that the costs of the doc won't be greater than the revenue? How do you know it will be profitable? Your whole premise presumes that people have no agency or awareness. That's laughable. Maybe she is using the doc as a device to get more information or useful attention. Maybe she's participating because she wants her story told.
1
@Fred Reade
Read my comment again. Then look up what defines a fiduciary. A physician is a fiduciary by virtue of their superior knowledge of medicine.
https://definitions.uslegal.com/b/breach-of-fiduciary-duty/
https://biotech.law.lsu.edu/books/lbb/x236.htm
Then maybe inform yourself on the differences between "editorial use" and "commercial use" in regard to copyright law.
Then sign on the bottom line and don't bother with the fine print.
1
No suggestions. Just sympathy. I hope this collaboration will help her find a treatment that works.
15
After years of extreme debilitating muscle pain, my son was diagnosed with Dystonia.
Dr. Nutan Sharma a neurologist at Mass. General hospital made the diagnosis. After many drug trials
he had DBS (deep brain stimulation) and is now living an almost normal life. Dystonia is very difficult to diagnose and is often missed diagnosed. I suggest you see the best movement disorder neurologist
and rule out Dystonia. Stay hopeful, Nancy
13
@Nancy Silverman Very glad your son has done so much better! Unfortunately, dystonia is only the name of a symptom, not a disease in itself. There could be a number of different causes, needing different treatments.
2
I didn't see this column originally.
Horses used to fall ill with "Monday Morning Disease" (Aztoria) after a day of rest on a Sunday in significant numbers. My horse has Recurring Exertional Rhabdomyolysis (RER). I didn't know there was a human equivalent. It's a genetic disorder; Dr. Stephanie Valberg, DVM at U-MN has done extensive research on it and developed protocols for addressing it that involve diet and exercise.
The solution for horses is an extreme high fat, low starch diet, and a regime of controlled exercise: 1) gradually increasing the fitness level, and 2) maintaining exercise levels so that exertion is roughly the same each day. Exercise should not either exceed the fitness capacity that has been achieved, or be skipped for prolonged periods.
26
@LI'er
All this has been changed, this is the stuff we learned years ago getting into horses before all this great DNA work was being done. Read the new findings , genetic disorder and we are going to breed this out of our horses.
1
This could be one of several mitochondrial disorders. One such possibility would be CPTII deficiency. I would recommend she see about getting DNA testing for these disorders. This would probably need to be done at a major medical center that has expertise in these.
It seems unlikely that this is a type of autoimmune myositis with the “normal autoimmune tests” and the normal muscle biopsies.
I hope this helps!
10
My thought is that perhaps she suffers from chronic Lyme, but I would not be surprised if this path has not been explored. Many doctors do not even acknowledge that Chronic Lyme exists. As one who was misdiagnosed for one year and has symptoms of muscle involvement, I have had to do my own research to find herbal supplements that have been helpful.
9
I have suffered from something very similar my entire life.
It strikes only periodically. I've been tested for everything major, MS, ALS, all types of arthritis, and including porphyria, uric acid, allergies, and no medical doctor has ever been able to diagnose what it is...One neurologist thinks it's metabolic or a type of porphyria, but the tests for porphyria have always been inconclusive.
I have learned to treat it naturally, as if it's an intolerance or metabolic: When the excrutiating pain comes, which is rare these days, I drink Black Cherry juice concentrate immediately for a couple of days. I take Milk Thistle, and keep yeast overgrowth in check, I stay away from night shade foods, and stay away from alcohol. The pain subsides within a day or two. Good luck and best wishes!
9
@Sunny. You didn't mention getting dna testing for CPT-II deficiency.
1
@Steve
I don't believe I have ever been tested for CPT-II,
and after reading other people's comments about
CPT-II, it certainly seems like this might provide an answer for me. Thank you!
1
More than two episodes of rhabdomyolysis should prompt any primary care doctor to refer to a neuromuscular specialist. Recurrent rhabdomyolysis is usually due to an underlying inherited disorder of metabolism (fat or lipid metabolism, glycogen metabolism, or mitochondrial function), OR rarely, underlying mild muscular dystrophy. If she has received a definitive diagnosis, it is most likely in one of those categories, based on blood chemistry, DNA testing, or muscle biopsy for microscopic and biochemical analysis.
37
Seems like many respondents are in the medical profession andr focus on disease. I don't recall any mention of diet. We are what me eat, as the old adage goes and food can heal.
I wonder if Angel follows a healthy diet, eating mostly organic vegetables & fruits, nuts, whole grains, fish, no cow milk products, and avoiding sugar and carbs such as bread and white pasta?
While diet may or may not be the basic cause of her problem, eating as above can support all bodily systems and people who do so generally feel better than when eating otherwise.
5
@Ann. "We are what we eat ,as the old adage goes, and food can heal."
What evidence ,if any, can you cite that supports your contention ?
My sister has metastatic colon cancer and breast cancer. She has always been a particularly healthier eater, and a jogger.
She was exposed to DES in utero, as were I and two of my other siblings. The rate of breast cancer in DES daughters is twice that of the general population.
She has Lynch Syndrome, which is a genetic predisposition for cancers of the stomach.
Both my grandfathers, and aunt had colon cancer.
My sister was following a healthy diet before she developed cancer. Eating healthy food is not going to cure my sister.
Do you have anything else to add, that will worsen the pain of those suffering from medical conditions that have nothing whatever to do with their diets ?
37
Pretty sure this awe is waayyyy beyond "eating healthy" though I do definitely agree that nutrition (and even simply drinking more water) play a large role in many our our health concerns
1
Please ignore my earlier one-word submission. Impulsively, I wrote without reading the article where I see my "dx" was taken as a given. *blush*
There is a rare genetic syndrome where individuals periodically lower their blood potassium sufficiently to produce paralysis (periodic paralysis). Once muscles lyse and release potassium, the levels can be normal. The gene has been identified and can be tested for abnormalities.
JWS MD
23
I agree with the nephrologists who proposed an autosomal recessive genetic condition - carnitine palmitoyltransferase deficiency - specifically the adult form of carnitine palmitoyltransferase ii deficiency (CPT2 deficiency) can present with exactly this picture. The disease is the common disorder of fatty acid oxidation, characterized by muscle pain and stiffness and, in severe cases, myoglobinuria (the presence of dark-colored urine caused by the release of myoglobin from damaged muscle tissue) occurring primarily in young adults who are exposed to certain triggers. The diagnosis is often unrecognized because most physician's are unfamiliar with the disease.
61
@Michael Sole, MD, FRCP(C),
I just saw your post after I posted mine. I had the same thought. I just came across a possible case recently.
1
My wife is a nurse, was working nights and taking care of our 3 sons....She wasn’t sleeping much, had a bad cough and began to have a racing heart and muscle pain throughout her whole body primarily her legs and back… When the dark urine started again ( she had this a few times in her life always After strenuous exercise) knew she needed to get to the hospital… Make a long story short - her CK level was over 45,000… she was admitted! Her primary doctor thought that it might be a rare muscle disease… So a few weeks later she had a muscle biopsy and was diagnosed with CPT2 deficiency( listed as a muscle disease under muscular dystrophy)She now takes Carnitor 900 mg twice a day… Always make sure to stay hydrated and eat a balanced diet… Get plenty of sleep… And over the last 20 years has only had to go to the emergency room one time when she had strep throat to get IV hydration… In my opinion it sounds like Angel has carnitine palmitoyl transferAce deficiency…
4
I had an indeterminate diagnosis of Rocky Mountain Spotted Fever 19 years ago. Two blood tests gave a weak positive analysis. Muscle pain was akin to nitrogen narcosis. I got brief relief with Fever Therapy at a local Adventist care facility. Their hot and cold showers provided the best respite. The worst part of pain were debilitating headaches that no headache medicine could thwart. Four days after onset with prodding of a local infectious disease specialist, the doctor prescribed antibiotics. As my condition nearly rendered me incapable of thinking for myself, the meds brought relief. One thing I recall in diagnosis is my white count was low. Hence RMSF was pointed to.
My wonder is whether a peer monitored and conducted fever therapy would offer relief and maybe the cure. The version I got involves temperature taken every 5 to 8 minutes with core temps elevated to 104-105 for about 20 to 30 minutes, then ramped back down. Total immersion time in bath at about 110 degrees was an hour. One’s head has an ice pack for a pillow and ice pack may be used to keep the heart from overheating. Pulse is also read with temps. One result I heard at that facility was the eradication of toxin from a fiddleback spider bite. The patient survived the bite and the cure!
An aside, wherever poison ivy grows, many places near to it grow an antidote. This may be the riddle your body has.
2
I can't imagine the frustration this patient and her care providers must be experiencing relative to working so hard to try to figure out the triggers for her rhabdo flareups which would obviously help tremendously in achieving a far more balanced, pain free lifestyle.
Her flareups seem mysteriously similar to something a RR multiple sclerosis patient experiences in that scientists still have a long way to go to understanding and thus creating suitable and safe treatments that can assuage or prevent at least the symptoms of those intermittent relapses.
Her youthful age at time of presentation seems to me to suggest some sort of genetic mutation component, whether caused strictly by some environmental pathology or familial genetic activation, one could only begin to know by conducting ongoing molecular cytogenetic testing to check for chromosomal dislocation or damage as the disease progresses. Not cheap but possibly a very useful tool since all other causes rules out. I wish her the very best in her nursing career.
4
I too have an illness which evaded diagnosis, pancreatitis. This too carries with it a penalty of severe pain. When I asked my family doc what caused it, he responded that "you wouldn't be able to understand it." How would he know that I wouldn't be able to understand it I asked myself. The arrogance of this caused me to find another doc.
I was fortunate that in this case the severe pain is a very strong motivator and drove me to read every pancreatitis related issue of the New England Journal of Medicine within the previous ten years. My efforts were successful! I found enough clues but didn't know what to do with them. I asked one specialist in pancreatitis if it might be possible that I do have what i suggested to him even though I had not passed the sweat test. The doc screamed and yelled at me that I did not have it. I did not continue my efforts for nearly a year when I brought it up to my PCP. He suggested that a clinic existed specifically for the disease I had suggested so I made an appointment at the CF center. The CF doc immediately recognized two symptoms, pancreatitis and infertility and the rest is history. I want to encourage angel to continue her efforts. your disease is cyclic, you know that for certain and this is a clue as are the others that were mentioned. Keep going back to that place. The future is cloudy now but one day the fog with start to clear. Good Luck!
15
Rhabdo is fairly common in horses, so this is my somewhat out-there advice to you: look at veterinary research in this area. There is literally a century of documentation on this phenomenon. Also known as "tying up," azoturia, ER (exertional rhabdomyolysis) and "Monday morning disease," rhabdo in equines presents almost identically to Angel's symptoms. Some horses are predisposed to it genetically, and a muscle biopsy reveals this (see below). Other horses suffer bouts of it after weekend warrior type exercise--being ridden hard for several days with light or no training the week before and then left in their stalls with insufficient cool down. In addition to electrolyte imbalances, one common factor in many cases is excess sugar in the diet, which if the horse has a glycogen storage disorder (PSSM, or polysaccharide storage myopathy, tested for in the muscle biopsy), will be exacerbated by excess consumption sugars. As a final note, exercise in conjunction with herpes or influenza virus can also bring on rhabdo in equines. Maybe there is a breadcrumb trail of clues somewhere in the veterinary world? Best of luck to Angel and hope you find a cause soon.
62
@PMS...very interesting,..it's quite sad that many horses are"being ridden hard for several days with light or no training the week before and then left in their stalls with insufficient cool down."
3
My mother has a very rare kidney disorder called Bartter’s syndrome. It is marked by low potassium and magnesium. She first had symptoms around 25 years old and they sound strikingly similar to this young woman’s. It is genetic and I was the first baby born to anyone with the disease. She continues to this day to be in chronic pain and is on many meds due to complications from the disease.
19
Electrolyte abnormalities: severe muscle cramps can be caused by low blood sodium levels. This has probably been checked over and over but it fits with the irregularity of the episodes.
4
The only two relevant cases that I have encountered (as an internist) were back in 1981. One was a patient I diagnosed with Hypokalemic Periodic Paralysis, a strange recurring muscle weakness with hypokalemia, sometimes triggered by high carb meals. It reportedly can cause rhabdo, though such was not present in the patient I encountered. That disorder is also associated with hyperthyroidism, and sometimes goes away when the hyperthyroidism is treated. We did indeed confirm hyperthyroidism in that patient, and she went on for treatment. The other possibly related encounter was a patient who presented with rigidity and frank rhabdo, for which we were unable to find a cause, and who did not respond to benzodiazepines. After several days, an elderly (in 1981) consultant suggested trying oral paraldehyde, which was amazingly effective in relieving the rigidity and stopping the rhabdo when all the other drugs we tried had failed, even though the issue was not related to seizures. Even in that year that drug was ancient and rarely used. Hope this info helps.
23
This was way over my level of guessing, but please, do keep us posted on how Angel is doing -- Also, when of course if they come to - or close to - a diagnosis. It would be interesting to see the process at intervals, if it happens that a number of diagnoses are ruled out.
30
Has she had her potassium levels monitored? The RDA for potassium is 4,700 mg. And unless she's eating foods daily that are high in potassium then she's probably not getting anywhere near 4,700mg of potassium from her diet. And supplementing is problematic as well since FDA restricts potassium in supplements to 99mg per serving.
If she is low in potassium, then either rx potassium supplements or bulk powdered potassium citrate or glyconate would be helpful in keeping her potassium levels optimal.
5
I predict that Angel will be the nurse we all would want to have—warm, caring, strong, I-know-what-you-are-going-through type. She didn’t just roll over from discouragement or fear or let the episodes disable her in mind, body or spirit. I look forward to the documentary.
54
@Ann S. 6 months ago I developed a severe stack of rabdo after did 30 minutes of extremely exercises in a bike and I have been take one of the statins for the cholesterol
And have been informed that 20% of pacientes can debelopes Rabdofibromiolysis
M
1
@m.bravo It's unfortunate that your prescribing physician did not tell you that rhabdo is a possible side-effect from statins...I can imagine it was concerning as well as painful. When I started taking atorvastatin a decade ago, my doctor told me about the rhabdo risk - so I would know to watch for it. Luckily I have not experienced that side effect.
2
I can't see any way that nursing is an appropriate profession for someone with chronic, debilitating pain. It is a physically demanding profession that demands focus on others, rather than on self. People want to promote this goofy idea that the main prerequisite for careers like nursing and teaching is "caring." No. And that kind of thinking is part of how these jobs and the professionals who do them are demeaned, as well as how young people who have no business in these fields flock to them.
Reading again the April article, one thing that comes to mind is that Angel's rhabdo is caused by dysbiosis. In her case, some time the dysbiosis is triggered by antibiotics wrecking her intestinal flora, other times it might be caused by a food that privileges one type of microbe over another one.
It's also interesting to note that one episode of rhabdo happened going downhill, and it is known that going downhill causes more muscle damage than going uphill or going on a flat trail, because eccentric muscle contractions (at times spelled excentric in the medical and exercise science literature) develop more force than concentric muscle contractions.
The other exercise-science related piece of evidence is that her pain spreads from force-generating muscle fibers to postural muscles fibers; that's the same order in which muscle fatigues spreads, so the biochemical imbalance follows the same mechanism, and that contains a clue.
Did the tests discover potassium deficiency? The articles do not tell.
18
While this article can be helpful, it can also bring the hypos out of the woodwork that claim they have the disease and recommend useless medicine, procedures or worse.
Better to educate yourself on the web and find a specialist that can properly diagnosis the symptoms you have.
I suffer from pulsatile tinnitus, a uncommon form of tinnitus and diagnosed it on the web before a specialist did. I went to three doctors and finally the fourth one agreed with me.
There is no cure but at least I know what it is, and it is not fatal.
10
It is amazing the number of suggestions and theories that crowd sourcing raised for the young women with a rare disorder.
But the Diagnosis column did not address what support or process she had for filtering and sorting the responses into useful ideas. Or if she has any support there at all.
Data is good, but bad data is not. The leads may be necessary, but even more so is a way to speed up and simplify the analysis.
Wouldn't it be cool if we focused artificial intelligence development effort on that task, rather on scanning my every click and trying to sell me the last item I bought online?
41
My cousin and I randomly get chest muscle contractions that make it very difficult to breathe. My cousin was 24 when he had his first bout, I was 50. Doctors assured both of us that we were not having a heart attack and that our hearts were just fine. We both had Lyme's disease that went untreated for several months. My cousin almost died and had to be put on a ventilator. The Lyme's kicked my RA into overdrive.
Nobody has been able to explain the muscle constrictions and they are not typically associated with Lyme's. Medicine to treat RA and removing all soy from my diet seems to reduce the attacks. My cousin has removed all soy as well and seems to be doing better. We both still have random attacks but they are not as bad.
I hope doctors can find the cause for Angel's pain. From my experience, I do not know what is worse not having a diagnosis or the pain. Praying a cause is found soon for Angel and I am so happy she has been able to get her nursing degree and license.
30
Mast Cell Activation Disease
4
Sounds like some sort of issue to do with protein production. Maybe hormonal, or allergy. Or due to aquired dormant virus, causing autoimmune issue effecting a particular protein production.
4
Allostatic overload - vegetative contradictions/ compensations.
Few in the medical world knows that is possible to start to transform limitations in adaptive physiology that for sure is related to this symptoms. All disorders – mental or body- is also a disorder in the vegetative system. This disorder is essentially a contradiction in the vegetative system, which could not be resolved in a satisfactory way for the individual.
The vegetative system is in a dialectical relation to the entire organism, even to it self. This means that the mirror of the vegetative contradiction in the organism, is characterized partly by the organism own compensations to this contradiction seen organismic, but also by the vegetative system’s own compensatory measures.
The method is an incredibly powerful way of putting the homoeostasis/allostasis of an organism in movement, to support an in depth transformation of its dynamic. One session about 45 min. Every session will gradually improve all functions of the organism.
Improvement starts centrally in the organism and partly through epigenetic mechanisms spread peripherally to all other biochemical, physiological, somatic, emotional and cognitive processes.
5
@inge jarl clausen I usually understand what people in this column writes but yours just went right over your head. How can she change her epigentic mechanism in 45 minute sessions?
4
@inge jarl clausen
Is your opinion based on Homeopathic practice of Medicine? Or something else?
1
I saw this case in mid-May. The distinguishing feature of this case is hypokalemia and hypoalbuminemia (hypocalcemia can be due to hypoalbuminemia). I suggested three diagnosis: Celiac disease, laxative or diuretic abuse (she is a nurse!). It is interesting to know if she had been investigated for these diseases.
5
@Malkhaz Jalagonia Wondering whether you think she was abusing laxatives or diuretics when she had muscle pain during childhood.
3
@Malkhaz Jalagonia--She's had these severe symptoms long before becoming a nurse. In fact, it's likely she has a genetic illness which has NOTHING to do with her profession.
I'm sure that Celiac has long since been investigated and ruled out. Also, what in the world does laxative or diuretic use have to do with someone who is a professional nurse?
Nothing like slamming both the suffering patient and nurses at the same time. That's shameful.
1
I had chest pain and went to a major teaching hospital emergency room, because I had had a heart attack 6 years earlier. I was sure that it was just chest muscle pain.
It wasn't a heart attack, but I spent a few days in the hospital because they couldn't explain the chest pain.
Finally, as they were about to discharge me, the senior cardiologist took me aside and said to me that there was nothing about my profile that would explain this episode, but when he was a resident he had discharged a similar patient, who came back in shortly after being discharged with terrible results. It was determined that he had had pulmonary embolisms.
He sent me to radiology and sure enough I had unexplained pulmonary embolisms and have been on Xarelto since.
So, my advice, based upon my experience, is to go to several top teaching hospitals and hope that eventually you get to a doctor who has had the rare experience of dealing with a patient who does not fit their expectations of "horses" or profile.
Clearly, your other column dealt with "zebras", but there are rare patients who just don't fit the standard diagnostic profile.
73
@Brighteyed
I'm completely in agreement about your suggestion to go to a teaching hospital -- the young interns there are excited by interesting cases and have the youthful energy to solve them.
While living in Boston several decades ago, a friend phoned me in the middle of the night and begged me to pick her up and take her to Mass General Hospital emergency room. She had an itchy red rash that was spreading rapidly from her fingers and toes to spots all across her body, and she was becoming hysterical. In the middle of the night at MGH, we were surrounded by about 5 interns and young doctors scouring through every possible textbook (no internet in those days) to figure out the cause.
2
I am a nephrologist, and have seen 2 cases of recurrent rhabdo brought on by exercise. Both turned out to have a rare enzyme deficiency called carnitine palmityl transferase. Both were diagnosed by the Neurology Division at New York Presbyterian/Columbia, which has had extensive experience in this area. Good luck!
194
this is recurrent rhabdomyolysis, which can be caused by mutations in any of several different genes, as well as mutations in mitochondrial DNA. These can be probably identified by genetic testing of the known genes, or exome/whole genome sequencing.
50
I too am a nephrologist. I agree that carnitine palmityl transferase deficiency is number one on the differential diagnosis list. Number two would be severe hypo phosphatemia, of which there are numerous causes.
31
I agree ... would consider inflammatory myopathy vs. enzyme deficiency myopathy. EMG/NCS and muscle biopsy will help diagnose myopathic process. But likely will need genetic testing which can be done at academic specialty centers ...
10
There are some similar diseases seen in horses - related to carbohydrate metabolism. Used to be lumped under the description of "Monday Morning Disease". Working horses generally got Sunday off, but received full feed. Monday morning they'd "tie up" - extreme muscle pain and dark urine (which is why I'm posting here - very similar symptoms). Current treatments in horses revolve around limiting carbs and either replacing carb energy with fat energy or modifying carb metabolism with various nutritional supplements (ALCAR is one), along with regular aerobic exercise. There are genetic markers identified in horses for some of the variants - not a single genetic cause for all cases, but some genetic lines/breeding have higher incidence, even when the "offending" gene has not been identified.
93
Here we have a situation where this young woman's body is attacking itself. What follows may be a long shot but here it is.
In cases of chronic illness it is usually a good idea to assess potentially initiating and/or contributing psychological factors.This assessment is routinely omitted by general medicine which tends to look at the illness instead of the illness plus the person and her history attached to that particular illness. Of particular interest to me would be looking at past stressful events which often to play a role in autoimmune and other disorders. Has such an biographical/ stress history assessment been done? Might be interesting and add some hope and optimism to this situation for the reason that stress responses can in fact be drastically modified in successful psychotherapy in conjunction with whatever medical approaches may be helpful.
Could be hypokalemic periodic paralysis, a genetic disorder in which episodes of muscle weakness and damage can be associated with pain. Diagnosis, which can be made by the long exercise EMG test, is important because the disease is treatable with potassium supplements and other medications.
1
@JeanneWhite
Interesting. I too thought of a relationship to tying up in horses. It has been quite a few years since I ran a horse boarding and training facility, but I do remember the occasional case of tying up and that it was often accompanied by dark urine.