A Genetic Love Story

Our younger daughter now in her 40s, has a genetic disorder (22q11.2) that was not recognized until she was 19. I'm just so glad that Ms. McConnell has apparently not been plagued by people like my brother-in-law, who--when she was about 11--favored me with a lengthy discussion of how "a good mother" of his acquaintance was raising her own daughter, who, if she'd had me for a mother, would not have turned out well... Quite inspiring. In fact, I was inspired to slug him, but resisted. Just 8 years later I was able to send him an article about several kids with my daughter's syndrome who'd had horrific behavioral and emotional problems despite excellent mothering. DNA can be frustrating that way.

Our daughter's condition is not genetic, but for some with her diagnosis it is. It is diagnosed on brain MRI. We didn't get a diagnosis until she was 17, although now most are diagnosed prenatally or shortly after birth due to symptoms. Her problems were mostly academic, but she did very well in some areas, like basic math and reading, so fell outside the scope of academic testing in school. No extra help. I was a teacher (her teacher for the first four years) and so my bias was educational. We looked all over for help, but I never considered that it might be something physiological. We treated it symptomatically, and, fortunately, that is exactly how it needs to be treated (the dreaded "wait and see"). There is such a huge range of affectedness, including physical, social, cognitive, medical, and/or behavioral problems, that there is absolutely no one rule. I don't regret not having an early diagnosis, although I understand why it feels so important to so many, and how it helps those who are more affected in one of the many possible ways. Each little kid is a unique individual, and it can be hard to separate the medical knowledge from the personality. I'm pretty sure people would not have had high enough expectations, myself included, had we had the diagnosis sooner. BUT there are so many genetic and other conditions that have health implications, and early intervention is such a stunning success in so many cases, that my vote is on the side of finding out.

Ms. McConell’s article brings up considerations for all who would like to embark in genetic testing for non-medically actionable diagnoses. Let’s leave aside the possibility that finding the genetic underpinnings of a condition can lead to research and treatment options. For some people the diagnosis itself is calming i.e. deconstructs all the scenarios that we, parents, harmed our kids one way or the other. However, making generalizations and forming expectations according to the diagnosis is a real fear. As much as we know that one gene does not define the person, pigeonholing is convenient by professionals in medicine and education and even parents. Simply put we have 21,000 genes that direct the making of many more proteins that interact with the environment in ways that we know and we do not know. Individuality is inevitable because our biological complexity. This cannot be stressed enough. So finding the implicated gene is just an explanation of part of what we know about our kids. Let’s take it as knowing a little more rather than labeling. It takes an effort, primarily from medical professionals.

Parenting has become very difficult nowadays due to multiple reasons more so in the case of those having special children. I salute all of those special parents like Cath, Laurie D, Lena, Jay, Linda T, Joan R.B, thoughtful1, elained, jcs, Elizabeth, Laura and many others for their efforts in bringing up their children. I also salute all special children for their special efforts. I sincerely wish some miracle should happen and that all these children can have normal lives like another child.

I disagree with the author and echo Lena’s comment. Our daughter, 4, has autism and global developmental delays. As hard as it’s been, it’s harder not having a name for what she has. She has an additional medical issue that, so far, has been manageable with medication. She’s had the most extensive genetic testing available which was normal, to many specialists’ surprise. Lena, she most fits a Rett/Angelman spectrum disorder but has no regression. For now she’ll remain our sweet, lovely puzzle.

My son, age 38, is severely multiply impaired. His syndrome was not diagnosed until he was 13, and only in the last four years or so did I find a Facebook page for people with/parents of people with his syndrome. What I see when I look at the Facebook page is that there is a wide range of abilities amongst the people with the same diagnosis, just as there is an autism spectrum, and a spectrum of people with Downs Syndrome. Your sweet daughter’s gene abnormality may cause cognitive impairment in some with the same problem, but not all. Hang in there Mom, you’re doing just fine.

While I respect this mother's viewpoint, I wanted to offer a counter for other parents maybe search for answers for their own child. I remember the day I got my daughter's genetic report back indicating she had Rett Syndrome (a more common rare genetic disorder, which results in the inability for may daughter to walk talk or functionally use her hands), I was completely and totally devastated because like the author, I was so afraid of the labels that would be given to her--I wanted her to be my daughter, the name I and my husband named her, not her disorder. But six years later, I am so happy that we have a diagnosis. Almost immediately, I found support that was specific to her disorder and to her (for example, among the obvious motor issues, individuals with Rett are can suffer from a fatal heart condition--we now get annual EKGs to monitor). We also got connected to research which may mean a brighter future for her and frankly us. Diagnoses, yes can lead to labels, but they can also lead to specified support, and my daughter is still my daughter.

The identification process can be scary but it can also be profoundly beneficial. My son has an ultra-rare genetic mutation (speech, delays, coordination, are all challenging). After the diagnosis we found a second family in the other (now almost 100) diagnosed cases via a facebook group. We share stories, progress, setbacks, pictures, and have collectively started a foundation and secured research funding. None of this has changed how we see our son. And other people will see him as they do, label or not (Doctors, Teachers, included). I'm thankful we have a diagnosis. With the group, the narrative around the mutation is ours. More importantly, we aren't alone, living without knowing.

A diagnosis does not mean that you can't keep your high expectations for a child. My 23 year old son has non speaking autism which is basically very severe apraxia. His motor planning is very, very poor and hence so are his daily living skills. He learned to type to communicate and always excelled at academics. He was always fully included in a regular ed classroom with an aide( of course, we had to fight for this right). Today, he is a junior at UC Berkeley where he has a 3.8 GPA. I am not saying that his life is perfect, far from it but had I succumbed to low expectations his life would have been dismal indeed. Keep your expectations high!

You have spoken some important truth here. Our system is diagnosis-driven, and filled with well-meaning people who seem to think that application of a label is the definition of success and job-all-done in the situation. Some days it felt like the helping professionals were lined up out the door in their eagerness to label the child, but it was strictly crickets-chirping when it came to getting her what she needed to do well. If you don't submit to the labelling process, then you're a parent in denial at best, and unable to access help at worst. And if you do, then every quirk and quality of that child are seen through the lens of... the label. Not a lot of room for complexity and wait-and-see in our world these days.

A little knowledge is a dangerous thing, but we are only at the beginning of understanding the role of genes in learning, personality and social skills. Labels compound that risk, implying certainty, creating an air of finality, and of abnormality that can be crushing. Wise pediatricians and teachers, like loving parents, know to regard the child as a person, not a disease.

As the single parent of a now 22 year old daughter with a different rare genetic disorder finally defined by DNA sequencing (Ring Chromosome) which also manifests with epilepsy and cognitive/intellectual deficits, I can tell you with certainty that things do not get easier as our children grow-up. It is far easier to manage the “differences” in a young child and those “differences” become more impactful and frankly limiting as they grow older. Now that I am facing a terminal illness, I recognize that it is essential to face facts, get more assistance and plan for my daughter’s future needs which I will not be here to provide for. Her needs will have a life-long impact on her sibling and require outside support r.e. assistance in daily living and her lack of an ability to function independently in society, not to mention the significant financial burden required to support her. I cannot emphasize enough the need to balance acceptance of who our children are without being in denial of the impact of their genetic condition on their long-term care-giving needs. Not to do so is a disservice to them.

I completely understand not lettting labels define us and focusing on the positive, but how is this essentially sharing that thank goodness MY daughter is NOT intellectually disabled. Even an expert agreed with me. See.

As a former Speech/Language pathologist and the mother of twin special needs girls, I can share what I learned. First as a therapist, I know you need to go with the child's strengths in developing skills. As a mom, I did not want to know babies' special needs, I wanted to be in love with them and create a loving home full of the excitement of learning. So when I needed to help my girls gain skills to have a richer life, I threw myself into it. I became the voice which said to anyone working with my daughters that they needed to have high expectations for each of them. I understand the crippling grief one faces when learning your beloved infant is "hurt," "damaged," and there is no way you can protect them. But the system is meant to provide a safety net for the child and family. Resources become available with diagnosis. Caregivers need to turn the resources into meaningful supports. The public system has its share of mediocrity which you must constantly challenge. My ex husband and I kept our daughters in a Quaker elementary school until it became clear that the lack of specialized training was hurting them. We switched the girls to a terrific public school. And yes, I still had to fight mediocrity, attend meetings, talk to teachers often. One daughter has graduated from law school and is now a practicing attorney. The other has overcome more severe problems and is finally in college with supports. I know we each face this our own way. I wish you the best.

Kristen, I read this and have goose bumps. My beloved granddaughter is a child with undefined developmental issues. She is also the happiest, most compassionate being I have ever known. She says she and I are going to be doctors when we grow up. Thank you...for validating my own opinion that defining limitations is not required.

People will make a 'diagnosis' of their own about very single person that they meet. It is human nature. When my younger son was having difficulty with reading, I was delighted to have a diagnosis of learning disability. He received constant attention and special treatment until he left high school. He is a doctor now, by the way. Diagnosis and treatment can make a big difference. He KNEW he was different. "Why can the kids who aren't as smart as me read aloud so much better?" I often think the desire to avoid diagnosis is because the parent wishes and hopes for the best. That is understandable, of course. We all want our children to be good looking and way above average. And we see our children as a reflection of ourselves and our parenting. That is normal. And yet, I believe that early diagnosis and proper intervention can make a big difference.

Bless you and your sweet daughter.

A diagnosis is not a label if you don't let it be. This is for your own comfort not for the welfare of your child. Anyone who has worked with others with disabilities knows that each is an individual with his or her own strengths and weaknesses just like typical individuals. However, they can be on the look out for areas that often need work in people with a certain diagnosis. My daughter was 5 and in kindergarten. She was so fortunate to have a kindergarten teacher who recognized that something did not add up. My daughter was tested. She is gifted. She had the vocabulary/verbal skills of a child who was 13 but couldn't write her name easily. She has perceptual impairment as well as no dominant hand. She wrote with one hand to the middle of the page and changed the pencil to the other hand. She could not track up or down without lines to guide her. Any other teacher could have labeled my child lazy which is a much worse diagnosis than learning disabled. My youngest son has autism. There were teachers who said for me to give up on him because he couldn't learn. I gave up on those teachers and fought with the help of the IDEA to get him into classes with teachers who understood the diagnosis and knew that he could learn. He is currently looking for a job and an apartment. You cannot treat what you don't identify. I truly hope you become comfortable with your child's diagnosis because she may very well pick up on your disdain for the label and think it is her you don't like.

“With diagnoses of ultrarare genetic conditions increasing and our reflexive embrace of medicine’s authoritative perspective, we must wonder, who is in the position to tell the world what is true about people who are unusual and complicated?”. With that one sentence, Ms. McConnell, you have hit the nail on the head. Here are some other truths: 1. We are our children’s best advocates. 2. Medical professionals can help but sometimes don’t. 3. Same with educational professionals. 4. More data can help but sometimes doesn’t - as in the case of data that professionals use to label people. Ms. McConnell is so wise to be judicious with that data.

I think that you are conflating the distress of getting a diagnosis with seeing your daughter as less of an individual. I am quite sure that you and everyone else will be able to see her as someone with GAND AND as an individual. You yourself are a single mother of two studying nursing - and like those other people in the same categories - AND a completely unique unreplicated person. There is a good chance that the genetic result will help your daughter. Other family members might want to have genetic testing before they have children. Other people with the same disorder might develop certain medical problems that you can look out for with your daughter. There is a good chance that you can provide some comfort for other people in the group. Diagnoses provide information about cause and prognosis as well as management.

I am a retired pediatrician, with a strong interest in developmental disabilities. Over time children can make dramatic improvements in neurologic and developmental status. Especially with young children and children whose diagnosis is cloudy or rare, predictions are more difficult to make. A parent, like Ms McConnell, who can see a child's strengths, and beauty is likely, over time, to enjoy the experience of parenting and feel successful as a parent.

The article brings back a lot of emotions from the past year. In January whole exome sequencing revealed I might have a late-appearing case of Fanconi Anemia. The more I read, the more alarming it was, as the condition usually is terminal. I spent much of this year undergoing testing that showed my genetic variation seems to be benign, Genetic testing can bring answers but also is a slow and often stressful experience.

I have a nearly 24 year old daughter with significant disabilities who has never been properly diagnosed aside from "seizure disorder and developmental disabilities." I've always wondered whether she has some obscure genetic disorder that could be "found," but at this point, I'm just not interested. Your last paragraph was everything to me -- I felt it deep in my body, clear. Thank you for writing and for your profound perspective.

I am going to read and re-read this piece. Thank you. Thank you. I needed this tonight.

Absolute fact of life...HIPAA. You don't have to give a school all the details. As far as I know, you don't have to share the diagnosis to get them added educational aid. Tell them it's an extremely rare and little known genetic variant and let your doctor write a note specifying a need for whatever added educational care they should have. If people can get on aircraft with special assist animals and not have to tell people their diagnosis then you don't have to share yours either.

Heartbreaking story. What a brave woman and brave child !

Once you know what’s wrong with her, you have to back up and reaffirm what’s right with her. I think you did.

The precipitous loss of developmental skills was somewhat less terrifying for us as my daughter had been recently diagnosed with a rare terminal genetic disorder at age 5. We were basically pre-terrified. Before that time, we had a similar attitude to the author: working with what was and not worrying about why. Neurodegenerative conditions are a bit different, I guess. And we have yet to detect much of an authoritative perspective since most specialists (even geneticists) have only ever seen a handful of children (at most) with the same diagnosis in their entire careers. We participated in the first natural history study.