Was it truly chance?
Is it possible for anything in the parents genetic research, any substance or factor, anything the mother or father could have been exposed to, to have predisposed the child to have this gene defect?
A truly heartrending story... my heart goes out to the whole family and all involved.
22
It depends on the area, but molecular work usually involves extremely small amounts of whatever enzymes, primers, or materials used, and lab protocols are extremely strict when a "dangerous" substance is involved. The rest of it is on computers and machines.
The specific mutation Yuna has is random, so it's not due to the mother or fathers chromosomes passing it on; it's how the replication and transcription process performed when Yuna's genome was being "created."
29
My warm wishes to such a wonderful family. It is indeed a tragedy that is nothing short of amazing. If Yuna has any chance in this world, it would be due to her parents, Joon and the caregivers.
The coincidence as a couple of others pointed out seem astronomical. But then, truth is stranger than fiction. On the other hand it is possible that a latent infection coupled with exposure to chemicals and a predisposition to mutation at that site might have aligned together for destiny. The neuritis, though later in life, might point to some infection that is perhaps still there dormant in the nerves, for eg. HSV-1? Look at the havoc Zika has wrought congenitally. Sure Yuna’s younger brother thankfully does not have a similar problem but the conditions that existed for the previous pregnancy might have not been exactly the same....but I am sure that both these fantastic researchers have already been through these feeble thought processes.
Wishing you luck in your investigative research.
9
Reading this beautifully written article brought me so much emotion, and I could not sleep last night thinking about Yuna and the kindness that people showed to Yuna and our family. I would like to thank Pam Belluck and Ruth Fremson for being wonderful and sympathetic listeners and for producing this fantastic piece. I felt comforted and understood while I was telling them Yuna's story and - for the first time to this extent - my struggles being a mother of a child with special needs and balancing motherhood with my career as a scientist. I am also very grateful to the FOXG1 research foundation and National Institute of Neurological Disorders and Stroke at NIH, which have been giving us generous support to our research on the FOXG1 syndrome.
https://www.foxg1research.org/news/2017/11/22/foxg1-research-funds-secon...
https://projectreporter.nih.gov/project_info_description.cfm?aid=9401898...
I can't thank enough to friends, colleagues, and everyone who wrote kind wishes and cheering messages here and to me. Your support means a lot to us.
199
When I was a postdoctoral fellow at the Salk Institue many years ago, I published the article describing how motor neurons inside the spinal cord are made during fetal development. It was basic science research with little applied scientific component, but the first email that I received as soon as my paper became public was from a father of a child with debilitating motor neuron disease. He asked me if my research could provide any clues or solutions to his son's condition. Although I could not give him any satisfying answer at the time, the agony, love, and commitment in his message deeply resonated with me and inspired me to think of science from the viewpoint of parents who are looking for answers to their children's health issues. A decade later when we learned about Yuna's condition, I was reminded of his message, and I felt lucky and privileged to be able to use my skills as a scientist to help Yuna and children with her conditions. As Yuna grows, I learned to love Yuna as she is, not who she might have been, and to dream big dreams for Yuna, and that's what keeps me going.
140
It is clear that Yuna and Joon are well cared for. But who is caring for Soo-Kyung and Jae?
41
Early in my medical career I pondered why any merciful God would allow people like Yuna , and her family, to suffer the horrific consequences of a genetic mutation. Now, at the end of my career, my heart still bleeds for the likes of Yuma and her loving parents . However, my understanding of evolutionary biology allows me to exclude God from the blame game. Francis Collins labelled DNA as "the language of God". DNA mutations occur in a stochastic manner and do not require the hand or mace of God. When mutations land on intra gene DNA (SNP), it allows us to trace our ancestry. When the mutation occurs in a gene, it may have positive, negative or neutral effects on the individual and their germ line ( ie children and progeny ). When we step back from the individual and look at the family of Homo Sapiens (and all other species for that matter), we see that genetic mutation is the driver of Evolution. Case in point: two amino acid substitutions in the FOXP2 gene that effected Yuma, allowed the development of language in our non Homo Sapien ancestors (Molecular evolution of FOXP2, a gene involved in speech and language Enard, Wolfgang Nature: Aug 22, 2002 pp.869-72). The communication that language allowed was the spark that ignited the human race. On a personal level, mutations break our hearts and cause us to question God's mercy. On the board pallet of Evolution, mutation is responsible for Natural Selection and the living world that surrounds us.
25
Typo : intergene ( not intragene)
2
In the midst of this heart-wrenching story, I feel the need to pause and turn back into a "dispassionate scientist" for just one second.
Coincidences occur. That said, 300 to 6 billion odds, plus the couple trillion given the intelligence and training required for Ms. Lee's occupation?
The odds are so minute that I question whether this was truly random. To pose my hypothesis in its broadest sense, Yuna was born with a defect because of Ms. Lee's work.
I can come up with potential theories ranging from basic environmental (a lab chemical used to aid in the research of FOXG1 affects the gene within a fetus) to new-age-ish/psychological/borderline conspiracy (Ms. Lee's intense mental work with the mutation in turn caused her body to signal the fetus to mutate the gene).
I am no scientist, just a reader with an interest in the unknown. So I will turn back now into a father who can only imagine the difficulties of the Lee family and look, once again, at how I interact with my own community to help those in need.
But for the true scientists out there... What happened here? Is it preventable in the future? Or are the dice really just that fickle some days?
11
Sixty years ago, I was born with a rare bone disease that surfaced when I was four and required three leg operations in my youth. (It has, by the way, come galloping back in recent years and will probably kill me soon.) I was too young to understand what my parents went through to cope with me and my condition. This article gave me a good idea of what some aspects of it must have been like for them.
completeandtotalloser.blogspot.com/
23
Well, I got in a good cry for the morning. Absolutely heartbreaking yet fascinating story. Thank you, Lee family, for sharing your story—and to the NYT for a good write-up. May we continue to make progress in science.
26
I admire the determination with which the Soo-Kyung Lee and her husband are confronting their daunting life's challenge.
US biomedical research is a 24/7 occupation. Running a laboratory means designing research projects with your graduate students and post-docs, hold regular meetings with them, supervising them one-on-one, digesting the data, see to it that the young ones learn how to analyze the data, make figures and slides, write research papers, and travel the country, as Soo-Kyung did during her pregnancy, giving seminars to make your research and your face known to the powers that direct the research money.
Most research money flows from NIH. Grant applications must be written. Hardly anyone gets funded on the first try. Once you got the grant progress reports must be written. Since funding runs between three and five years and renewal is by far not guaranteed, you need a second grant to keep your lab running in case the first one fails. Know that the university will contribute little and your career will always depend on federal government funding. Tenure in medical schools does not mean much, once your research money runs out. In order to remain in good standing with NIH, Soo-Kyung volunteered to serve on study section, that is the panel of experts that appraises research grant applications for funding, which may mean weeding through 50 applications before meeting in D.C. as much as 3 times a year. Something's gotta give.
25
It is very humbling to read this story, this reality. We are so consumed by our comparatively petty cares and concerns. I cannot imagine the pressure of being the parent of a handicapped child. I barely survived being the parent of a ‘normal’ child. My heart goes out to the family.
35
Soo-Kyung Lee and Jae Lee,
Your efforts are heroic. You are clearly people of integrity, intelligence, and great love.
From one Oregonian to another, I wish you the very best.
And Soo Kyung Lee, please rest. Really. Rest.
You cannot take care of your kids and your extremely important academic research unless you sleep and find time to relax.
Take up something really ridiculous like watching HGTV for a couple hours. Nothing bad ever happens to those people except mold and termites and everyone is happy in the end. I'm not kidding. De-fry your brain and do something relaxing for YOU.
Thanks to you both for your research which will help other children in the future.
53
Well done to the family for their perceverence in the face of such challenges.
If Yuna reacts so well to music, perhaps the answer to getting her to communicate is through music? Here's a link to some academic studies:
https://academic.oup.com/scan/article/10/3/444/1656868
It's very important that the family take time out to relax and get away from the pressures they face. They're not doing themselves or their daughter any favours if they're getting ill from stress.
16
Without the caregivers funded by the state I doubt this woman could manage this child. Unfortunately funding for this kind of care is limited. This is a proper function for the Commons meaning the state. What will become of this child as the mother ages? We need to have institutions staffed by well paid state employees with benefits and retirement. The current system of care is based on underpaying caretakers. This leads to potential negligence and abuse. The child is cute now.....but in 15 years? Full sized?
37
Yes--We ran into this with my brother in Texas--not exactly a generous state. To handle someone the size of an adult who cannot help is quite difficult. Most don't understand this.
26
That is the question that keeps me awake at night. My daughter has a different rare neurological disorder -- Dup15q -- and she will never be able to live on her own. In Maine, group homes for adults with disabilities are closing because they cannot staff them at the minimum-wage rates the state reimburses. These adults are being left homeless, in hospitals, and, in some cases, in jail because of behavioral issues. This is not the way a moral country behaves, especially one that has more than enough money to take care of every man woman and child. But that is who we are. It is heartbreaking and terrifying, and we should be ashamed.
73
Thank you Soo-Kyung and Jae Lee for sharing the story of your daughter's condition. I was moved by the progress that Yuan is making through your love and devotion. I hope that she continues to progress through your efforts and the help of therapists and that one day your study of the FoxG1 disorder will shed light on how to best treat this condition.
24
'It was a random mutation, so she felt relief her second child was at little risk."
To be clear, all mutations are random.This mutation was a "de novo" mutation that originated in Yuna and was not the result of a mutation in her parents DNA. That is why her brother is not affected.
25
"Random' means we do not know the cause.
12
My daughter has a condition in common with Yuna, agenesis of the corpus callosum. In her case, she is just missing a little of this structure. Yuna has what's called hypoplasia (thinning) of the CC. Some folks are missing it altogether.
This brain anomaly is found in conjunction with many syndromes and other disorders, as Yuna's case shows. Disorders of the CC are these days often found on prenatal imaging, and confirmed by MRI shortly after birth, but this article doesn't mention whether hers was. Prognoses vary widely, as any version of CC anomaly can cause anything from mild social problems to severe physical and cognitive disabilities.
The availability of genetic testing is finding reasons for the CC abnormalities in some cases. What has appeared to be an isolated CC issue can now be associated with a genetic cause as it is for Yuna.
Our daughter's CC anomaly is caused by another brain condition, septopreoptic holoprosencephaly (HPE). Her MRI was one of 7 used to identify this new subtype of HPE. It causes brain hemispheres to be fused together, not allowing a complete CC between them. Fortunately for us this subtype is very mild and she is pretty capable.
But I have come to recognize that CC disorders, which cause signaling problems between hemispheres of the brain, can often be true "developmental disabilities." Kids who have difficulty learning to walk, speak, or reach other cognitive or physical milestones often get there eventually. Yuna may too.
19
The corpus callosum is not the only structure connecting the cerebral hemispheres. An intact anterior commissure may help improve the condition.
4
Thanks to the Lees and NYT for bringing us this beautiful story.
In 1973 I gave birth to a child with a rare genetic defect called 13 d delection syndrome. She died at age 10. I am reminded of the tremendous stress of caring for a child with such challenging needs. I spent years wondering what I did that might have caused my child's condition although my husband and I were assured it was random. I had terrible stress when pregnant with my 2 subsequent daughters although I had genetic testing I couldn't relax until I saw a healthy child. I knew I'd reached my limit, I could never care for another child like my other daughter.
I admire the Lee's. There is a special place in heaven for parents caring for a disabled child.
57
As Blavatsky noted more than a century ago, it is the result of the powerful impressions the mother fostered during pregnancy which are forwarded to the growing child. We blame a gen, but why could not the gen be there because of the concentrated and powerful impressions from the mother?
8
See Isis Unveiled I, 384:
‘‘But, despite materialistic skepticism, man does possess such a power. When Europeans will be convinced of the weird and formidable potency existing in the human will and imagination, whether exercised consciously or otherwise. And yet, how easy to realize such power in spirit, if we only think of that grand truism in nature that every most insignificant atom in it is moved by spirit, which is one in its essence, for the least particle of it represents the whole; and that matter is but the concrete copy of the abstract idea, after all. In this connection, let us cite a few instances of the imperial power of even the unconscious will, to create according to the imagination or rather the faculty of discerning images in the astral light.
We have but to recall the very familiar phenomenon of stigmata, or birth-marks, where effects are produced by the involuntary agency of the maternal imagination under a state of excitement. The fact that the mother can control the appearance of her unborn child was so well known among the ancients, that it was the custom among Greeks to place fine statues by the bed, so that she might have a perfect model constantly before her eyes. The cunning trick by which the Hebrew patriarch Jacob caused ring-streaked and speckled calves to be dropped, is an illustration of the law among animals; and Aricante tells "of four successive litters of puppies, born of healthy parents, were without anterior extremities and had harelip."
7
You are very correct Mr. Noble
All ancient societies know this.
African oral tradition speaks about it. Women of child-bearing age are constantly warned about what they focus their eyes and minds on, as those things will show up in your child. For instance when some ugly and fearsome masquerades came out to dance, pregnant women were not allowed to come out.
The bible passage you refer to is Genesis Chapter 30 verse 27 to 43.
This is nothing new at all.
Sadly because of some hypocritical christians and other excuses, people abandon the wealth of knowledge to be found in the Bible.
It is also the lack of knowledge of history due to a sad decline in reading and then the decline of the extended family system that causes major gaps in education in matters like these.
I wish the child well, and that the mum gets some rest.
Prayers for them all.
Are we still blaming mothers for imperfect children? Really?
37
A tragic story to be sure, but the scientist in me does not like coincidences.
I can't help wondering how this mutation was induced in Dr. Soo-Kyung's lab animals and if there is any possibility it might have affected her own child?
Scientific history is full of stories where experimentalists paid a steep price for their research. Madame Curie died of radiation induced anemia while the Demon Core killed 2 people promptly and shortened the lives of half a dozen more.
The damage is done. It would be a shame not to learn from it, but to do that we have to acknowledge some uncomfortable possibilities.
30
Please reread the story. The mom found FOXG1 fascinating before Yuna was born, but did not work on it in her lab then.
6
Could the mother's age have something to do with the child's condition? It is common knowledge that the higher the age of the mother, respectively the father, the greater the chance of genetic mutations
1
Mutagens do not only exist in biochemical laboratories.
3
Studying this seems to be causing mutations. Both the daughter and the mother got sick in similar ways? I would hate to say to stop studying this, but you should at least use as much protection as possible, like covering the mouth and skin and make sure the gene is only viewed from a closed box and doesn't get exposed to air, etc.
8
My heart goes out to this family - every day is a challenge. May we make progress in science - but also in our compassion to care for all individuals in need.
29
another random occurrence might be the interaction with Yuna of one of her classmates, inspiring in that "normal" child an interest in such problems that eventually leads to a career in science, medicine, psychology, community service, etc. ... one hopes that the classroom teacher is urging the students to engage with Yuna rather than avoid her... this hope extends to all such school situations where children are interacting with others less fortunate
27
Yes. This is what happened because of my daughter who had extreme special needs. She changed people’s lives. One of her ‘normal’ classmates in public school has chosen her profession because of her relationship with my precious daughter.
26
This is so strange. My post-doc at MSKCC ~20 yrs ago was in Eseng Lai’s lab. He cloned Foxg1 (and named it Brain Factor (BF1)) when he was a postdoc. He made the mouse knockout about 4 yrs before I joined his lab. It made the cover of Neuron because the phenotype was so striking. Complete lack of telencephalon development. I worked on the related protein BF2 (and kidney development) but it was a small lab and we worked hard trying to figure out how BF1 contributed to brain development. Seems like the field is still trying to figure it out. But it’s absolutely devastating to know humans suffer from this condition as it is so critical for normal brain development. My heart goes out to the family in this story.
38
In these troubled times with values often seeming to have gone awry thank you for the reminder, the acknowledgement, that many pursue noble paths.
38
It sounds cruel. But how many genetic defects can a society afford to pay for before it becomes bankrupt in financial ruining? We are almost there now by prolonging the agony of death and keeping genetic defects in the genetic pool.
13
It doesn’t sound cruel, it sounds ignorant and shallow. A story about love, persistence, hope and learning (society and science will greatly benefit from this child’s misfortune), yet your concern is about money? Your health insurer isn’t turning enough profit? Think before you type, it helps.
38
Basic research like this eventually pays dividends other domains. It's a mistake to assume that research illuminating something specific like this has no applications or benefits elsewhere.
38
Usually if something sounds cruel it is.
35
I believe I will be thinking about these people and their story for a long time.
Thank you to Soo-Kyung and Jae, for the work you do in helping us understand the development of the brain. Thank you for valuing your daughter so much. I think it is probably hard for most average Americans to immediately see her potential; we are so used to ranking people and to awarding the most value to those lives which seem to have the most.... You're pouring your life, energy, and considerable talents into cultivating her abilities, though, and in to giving her a life of experiences. Thank you for giving those of us who hear about you, your family, and your work, a moment of clarity regarding the value of human life.
46
I hope and suggest that this article be included in the yearly 'Best Science Writing of...'. Excellent writing on all levels, and combined with the rich photography it's a totally human picture of a genetic disease. Bravo.
58
The 'detached' scientist in me thinks it would be crucial to find out whether fixing the mutation, that is inserting the missing nucleotide, in utero in mice fetuses with the mutation would result in normal brain development.
The not so detached scientist in me believes that an environment rich in social interactions and persistent daily physical and mental exercises may help Yuna most. Brain plasticity is experience-dependent. Our brains remain plastic throughout the journey of our lives, moving from one milestone to the next. Sitting up on your own may just be one such milestone. Never give up.
Yuna, my best wishes to you and your loving family.
85
Odd and terrible story... and one that makes me think about the many special needs children who do NOT receive excellent care, under funded schools, children and adults with food insecurity. I wonder what will happened when Yuma has finished growing. Do children with this disorder attain adulthood? It also reminds me o Alzheimer patients who in the last stage which can last a good while are also very impaired. We do need to address all issues requiring infinite compassion.
31
I only hope and pray that Soo Kyung Lee's physician gave her a thorough informed consent before starting her on an antidepressant.
3
A lot of people wouldn't be able to live their lives successfully without antidepressants. What is your point.
40
Really? That’s your take away from this beautiful, heartbreaking, and hopeful piece?
23
All the power to Yuna, her parents and her brother. As a first time mom to a 7 month old, I have become acutely aware of how much a miracle it is just to be born let alone born healthy. Clearly, Yuna has a grand purpose in this world in driving the work of her scientist mother.
49
Beautifully written. An amazing story. May the powers of love and science help Yuna and others with genetic mutations interfering with brain development.
57
I was struck too by the challenges of the vestibular (balance/eye function ) disorder Soo-Kyung is working through as she cares for her child and works.. Readers should know also that vestibular disorder information is compiled and distributed by VeDA, the Vestibular Disorders Association, a global non-profit. where excellent information and resources are available.
37
I am a retired occupational therapist who had worked with severely physically and mentally challenged children. The thing that struck me as the most cruel was that their bodies continued to grow larger and reach puberty despite the childrens' continued inability to care for themselves, making it increasingly difficult for the caregivers. Changing diapers/sanitary pads on a fully grown adult, etc. I ask myself why can't their bodies also remain small and undeveloped so that it can be easier on everyone?
25
There was a case some years ago where parents of a child opted for treatment to make their totally dependant, non responsive child easier to manage as she got older. And they were crucified over it. I think in some cases the decisions should be left to the family. And yes, it's very tricky.
23
Dear Dr.Soo-Kyung, I don't know the justification for naming the gene .FOXG1. By going through the methodology followed for naming the gene, I
know that there is no uniform pattern and justification in the name pattern as we easily able to position the functional groups of the compounds in organic chemistry at ortho-,meta- and para- that leads us to fix the behaviour and further study on the subject molecule. Again my inquisitiveness to put a question on engaging the 'mouse brain cells' to explore the answer to Yuan's brain disorder. What are the basics make you to prefer the mouse brain cell to the dog's brain cell? In my understanding, you might be able to unravel the answer more than infinitesimal to discrete by studying the dog's brain cell that's response,reflex and repulsive pattern could be the subject of evolutionary - correlation to our commands to the child has a gene disorder.
(Since you have mentioned the anticipated ' falling mode' of your child under observation).
3
She didn't name it. I appreciate developmental biology's nomenclature scheme being *nothing* like o-chem (yuck). Mice as a model species is much less expensive than dogs, though sadly both model species are sacrificed at for the sake in these & many other studies. You may want to review current undergraduate biology, biochemistry, genetics, anatomy/physiology, cell biology & especially developmental biology to get a better understanding of animal function... & perhaps help you generate better, more useful questions to explore.
10
Though I could agree with you and the statement of Mr.Eric Green,Director of NHGRI, " The mouse has long been a mainstay of bilological research models, I couldn't find the study on the dog model. The mouse model has largely contribute the brain cell development in biology but the dog model has an edge since the dog is an effective communicator with human being. As our pet, we have a communication circuit with the dog in which I can't ignore the brain wave pattern for communication in the 'eletro encephalography ' of the dog model that is absent in the mouse model. Digging deep into the subject , we need the perfect communication with our offspring that is linked with neuro developmental disorder and hence the dog model is my suggestion. Do you agree that Snf2l and Foxg1 work against each other?. Thanks for saying that we don't have a body like IUPAC for naming the Gene.
1
When it comes to the question of saving the life of the human race,the research is independent of the cost of the guinea pig whether it is mice or dog. When GSK, UK announced for volunteers to inject with Ebola vaccine in Oxford, Ms.Ruth Atkins, the British volunteer in Oxfordshire came forward . I put my comment in the Guardians, UK " Dear Atkins, I bow my head to your sacrifice .I pray for your good health". Still I am seeking for
the evidence of 'dog model species' used for the study on FoxG1
highlighted in your reply.(Ref: The Guardian,UK, 18 Sep' 2018).
Thanks.
2
This story really touches the heart and mind of every parent on this globe. Importantly, it has multidimensional implications including societal, scientific and state support for children born with neurodevelopmental and other crippling disorders. First, and foremost, it shed light on the efforts of well-informed parents care-giving struggle for their beloved daughter suffering from a FOXG1 gene (a unit of inheritance for a particular product in the body) mutation. Furthermore, it also highlights paucities in genomic medicines training that medical professionals are not adequately equipped with in current times. Thanks to Human Genome Project and allied technologies that made it possible for the Yuna’ parents to precisely find out the underlying cause of her devastating ailment. Efforts towards strengthening genomic medicines training and biomedical research need more attention and necessary support. Being a biomedical scientist and reading through the story several scientific domains need to be strengthened including in utero testing, gene therapy opportunities both earlier and later stages of the disease and our society readiness to tackle with rare disease/rare genetic disorders overall. The struggle of Yuna Lee’ parents is praiseworthy, but we as a society have to think about sufferers of rare genetic diseases like the one described in this story and opportunities for parents to get necessary support and treatments for their loved ones.
46
This story wipes out a thousand years of Trump ignorance.
32
How?
8
And lack of caring and compassion.
9
with such a strong family, I can't even imagine what little Joon will achieve. He's already more compassionate and understanding than people 10 times his age.
God bless you Lees.
46
I am very moved by their situation. I wish I were closer to them in Oregon I would build them a stairlift or elevator to make it easier to move within their own home considering their situation with moms vertigo and Yuna growing. I hope someone out there can help them out with that, it would certainly make life a bit easier. My prayers are with you and your family Yuna.
91
My heart stopped when I read this article. My 5 1/2 year old grandson has a duplication of the FoxG1 gene. The highest and the best for your family and thank you for the research you continue to do.
80
Mary, have your grandson's parents joined the FOXG1 Facebook group or identified themselves to the International FoxG1 Foundation?
18
They have.
2
I am humbled by the enormous interests from not only friends but also from far more people we did not know of before. We agreed to the interview mainly because of the opportunity to raise the public awareness for this and other rare developmental disorders. One thing that we failed to mention is that there is a new foundation devoted to curing the FoxG1 disorder, which was formed by three heroic moms of FoxG1 kids, Nasha Fitter in California, Nicole Johnson in New York and Christine Revkin in Switzerland (please check: https://www.foxg1research.org/). They have been working so hard to raise the research fund to study and treat this severe disorder. Important to note is the fact that studies of FoxG1 also provides important insights into other disorders such as brain tumors and autism spectrum disorders from its overarching roles in those disparate disorders. Our FoxG1 research is also beginning to be funded by this wonderful organization.
465
You are very beautiful parents and I pray you find more progress in your research. Godspeed ✨
33
Thank you for sharing this additional information. I pray you know Jesus and hope you have a strong, supportive church family in Oregon. He knows you and loves your family!
3
My 2.5 year old has CDKL5 Disorder, in the same family of disorders as CDKL5, I identify with your life so closely.Thank you for bringing awareness to the lived experience of kids and families like ours. Yuna is amazing!
10
This is a remarkable story. I hope the parents, and others, will pick up John Wagner’s new book, Perfect. These parents and their kids do not need our pity or condolences. Rather, let’s offer them meals, free babysitting, a weekend respite. And when this precious child is 12, she is welcome to attend Capernaum, free every week, to kids 12-21 with serious disabilities through Young Life. Services such as these can help kids in a myriad of ways and parents to cope even better. Thank you for an insightful and well written article.
71
I have a daughter with a mutation of gene SCNA8. She too has severe developmental delays. At 7 years old she has low muscle tone, an inability to speak, stand, walk, sit up straight without assistance, and has a seizure disorder. I’m not sure if it would make things easier if me and my wife if we were geneticist / neurologist, but I certainly felt connected to the parents in this article. My daughter has been a blessing, albeit one that comes with a lot of complications we weren’t expecting when we decided to have a child. I pray these parents and their colleagues one day make a breakthrough that can allow our children or those in the future to recover and fulfill their true potential. God bless
91
This, very generally speaking, highlights the important difference in knowledge (& wisdom) between MD's/DVMs and PhD Scientists: "Yuna’s neurologist declined to authorize FOXG1 gene analysis, considering the possibility improbable — and irrelevant because it would not change Yuna’s treatment, Soo-Kyung said. So she decided to sequence the gene herself, preparing to seek university permission since her lab only worked with animals."
40
I also noticed this difference between PhD and MD clinics and when it was noted that a clinical research pediatric neurologist made a tentative diagnosis.
11
The MD's job is medical, and that profession is urged to keep medical costs down, hence that decision. The MD's goal is to provide best care, and as stated, the diagnosis did not change treatment. The PhD's job is research. Further-- in this case, the PhD was the parent, with a parent's drive to understand and help her child. Finally, it was a task she could do herself: and one she was uniquely qualified to understand. Why would she not? It is perhaps not a matter of knowledge and wisdom, but a matter of roles. Her role as the researcher and parent compelled her to identify the gene. I agree it is a compelling story, and one I cannot imagine trying to live out. But it is perhaps unfair to criticize the MD's decision.
12
I agree with EmCee that this instead highlights the difference in training. One of the things that was emphasized over and over in my medical training was 'don't order the test if it won't change management'. It unnecessarily runs up costs without providing clear benefit to the patient.
5
We are constantly picking up and shedding DNA. Is there a danger in studying such genes ? Are they absorbed into the body and do they mix with our own DNA ?
The "coincidence" is striking.
12
That is not how things work. You don't pick up or shed DNA.
12
Do you mean to imply that genes and genetic defects are contagious?
1
Although it's medically anathema, you aren't the only one to wonder about that possibility. There have, for example, been cases where a nurse worked for years with a certain set of patients, only to give birth to a baby with that defect. Coincidence? Karma? Maybe.
3
Sadly, needful families are facing uphill battles. That our country elected someone who openly ridiculed a disabled reporter, and who had a disabled wheelchair-bound child (and the child's mother) roughly manhandled out of a campaign rally ("Get them out!") for sitting silently and holding a protest sign...that parents of children with Down Syndrome have to exhaust themselves fighting school districts to do the right thing...that our Pittsburgh Highmark-associated hospital network just ditched residential hospice in favor of rooms at the ends of acute-care hospital wings, where nonspecialized nurses may now get there when their acute-care duties allow....I am a physician and I am mortified at how our country behaves towards those who need help most. Yuna's parents are true heroes. Thank you for sharing their story.
134
My late father became a nephrologist after experiencing the death of a family member brought on kidney disease. I know it was personally rewarding to him to stem the course of kidney related ilness in many individuals. I wish the parents in this article the similar joy of defeating that which plagues their daughter through their work.
29
This is a superbly reported article, in keeping with NYT's typical scientific responsibility, depth, and rigor.
But one other thing merits mention (as I sit in my living room, enjoying my view of OHSU from across the street, on this beautiful spring day): the photographic essay that forms the flesh around the bones of this article. Ruth Fremson has absolutely hit this one out of the park. Her human and humane visual counterpoint to the science is just magnificent. Read the article, see the imagery, and you have been immersed in the world of this unfortunate but indefatigable family.
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The most likely explanation is that she was drawn to the study of this gene in the first place because she herself or at least some of her relatives have shown behaviors typically associated with the gene. Therefore her daughter having the symptons is not such an unlikely event after all. Even if such a connection is weak, the odds of this happening is small, but still not impossible.
10
I believe the article states that this mutation is spontaneous, not inherited.
17
Uh, no, that is not how science works. It is a coincidence; one with long odds, yet a coincidence nonetheless. Best wishes to this family.
15
This case was not an inherited genetic disorder so it's unlikely that any relatives had this or any related disorder. Based on what was found upon sequencing, it sounds like it was a spontaneous mutation that occurred shortly after conception... a point mutation, in which one nucleotide is omitted, inserted or otherwise substituted w/ an incorrect nucleotide.
9
What a story a beautifully told. I just watched a film / documentary based on Andrew Solomon’s book “Far from the tree” which looks at a number of families and their differences. Incredible love that people have for their children persevering against all odds.
30
"(parents) had to transform from dispassionate scientists into parents of a patient, desperate for answers"
As important as the overall message and meaning of this article is, and as thoughtfully and comprehensively it's been written, I am appalled by this single statement. As a scientist devoted to study of rare disease through basic developmental biology methods, who recently found out I myself have a single mutation pathogenic for a devastating rare disease, the last thing I identify with, pre or post self diagnosis, is 'dispassionate'. Disparaging the basic portrayal of scientists to contrast caregivers is a huge disservice to the field. This article talks a lot about inclusion of disabled people, yet it's tone is several decades behind when it comes to portraying and promoting diversity and inclusion in the sciences.
Scientists are parents, differently abled, different ethnicities and races, different genders and identities, but most importantly - scientists are people.
42
Sadly, you are reading much into this story that simply exists in your mind only.
7
Do you think “dispassionate” means “lacking in compassion”? It doesn’t.
7
One of my five children has a developmental issue though she is high functioning. I know what it takes to provide her what she needs. I cannot imagine how they are living through this and yet, what an amazing love story. I so admire their commitment to her care and pray that the beautiful Yuna will continue to grow and thrive. It puts so much in my life in perspective.
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The picture of Yuna smiling is beautiful. I'm grateful to Yuna's parents for doubling down on their scientific endeavors to understand the FOX gene(s) which will ultimately enable rare clinical advancement in the face of their own personal battles. It's hard being a working parent of non-disabled children; I genuinely couldn't imagine the level of stress and commitment these amazing parents (and others) are faced with daily. I'm proud that these are my fellow citizens in the US - a wonderful example they set for all of us.
43
People are really tested. What can be required often seems overwhelming.
20
I was struck by Ms. Belluck's reporting, and especially by her choice to detail the names and contributions of the various caregivers and other professionals helping Yuna in her day-to-day life.
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Like the Lees, my daughter has FoxG1 Syndrome. Without our daughter's support team, teachers, classroom aides, therapists, respite care providers, special needs daycare teachers, and the rest we'd be sunk. As parents we have moral, ethical, and emotional obligations to deal with our child's special needs but those people all volunteer to do it and they amaze us constantly.
39
while we might first pity such parents, I believe more often they learn such love that they can feel it's a gift - an opportunity to show love they might not otherwise have known.
at childcare I see such a boy - diagnosed as 'slow' - but what does he do - while other kids might ignore me, the first thing this boy did on seeing me was come up and give me a hug - and now whenever he sees me he reaches out and says hello with a smile - a special guy.
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Such a huge odd coincidence. Incredible. How does that work?
11
The solar system. The third planet. DNA. Evolution. Quantum physics.
12
I have a child with a much much milder developmental issue, but over my years of involvement in special education (as a parent) I've met parents who are old before their time from caring for a special needs child, and worrying about that child's future. We should be doing much more to support those parents. I wish Ms Lee, her daughter and her family all the best.
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While my son's disorder is nothing like Soo-Kung's, I have an adult child who became stricken with a brain disorder at 15. There is not the care nor the compassion in USA which Yuma received in South Korea. I, too, suffered from exhaustion & stress caring for a child while teaching school full time only to have the principal at my school announce in front of the entire faculty that I was using all the insurance money from the district coffers for treatment of my two ill children.
This article made me cry for two reasons....what the parents went through in caring for their daughter & the lack type of treatment I received for my disabled children in Oxnard School District in CA. It saddens me to see how the USA treats it's vulnerable & disabled & how the parents must "fight a hard fight to their last breath" for any resources they might receive for their children. When we have people in this country in high positions who lack any ounce of compassion, then ours becomes a country of greed, success, fame, fortune & power for the predators who will do anything to have their entitlements. What is the difference between this kind of thinking than that of Hitler who believed that only the perfect specimens should survive & be entitled to this world. If we are a world without compassion & service to others, we are in HELL.
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You've misread the article. Yuma is in Oregon, not Korea.
44
Yuna lives and is treated in Portland, OR, not South Korea.
49
Hitler drew inspiration for his eugenics movement from the US eugenics movement.
11
A good place for more information on FOXG1 Syndrome: https://foxg1.org/
17
thanks for the info.
5
As the parent of a child (now adult) with a genetic disorder that has affected him developmentally, I would never presume to say that I know what this family is going through, but perhaps I have traveled similar terrain. The best advice I was given was to mourn the loss of your perfect child and you will be free to love and accept the child you were given.
Much love to Yuna and her family.
171
Well done, CMC.
5
Bless your heart dealing with all this. I wish you the best in healing both.
My daughter and SIL teach and test aspergers children. They have one beautiful daughter who also started out normal and sure enough at four is now dx with aspergers. Pretty unbelievable coincidence, but at least they know the resources.
36
Thank you NYT for publishing this important story. There are millions of families struggling to do their best for their children with disabilities. This family is an inspiration in living their lives in love and acceptance yet working with hope toward the future. I will remember them.
147
Fantastic article thank you! This is why I subscribe to The Times.
90
There is nothing so strong and so determined as a parent's love. May the Lees find their miracle for Yuna . . .
76
I imagine as scientists they are hoping for a medical breakthrough. Not a miracle.
9
Heartbreaking and yet inspirational. The love of these parents for their child is unconditional!
60
Soo-Kyung Lee is an unbelievably strong person, a dedicated scientist and an incredibly devoted mother!
As a non-tenure track academic married to a tenured academic who co-parent our autistic son, I completely related to this story: the self-doubt, guilt and self-reproach ("What did I do wrong?"), the desperate search for the cause, the endless therapies and battles to receive more medical care, the joy in small improvements, the toil of care. It was no surprise to me that Dr. Lee collapsed from exhaustion caring for her severely special needs daughter, and her young son, all while managing an academic career.
Dr. Lee you are an inspiration as a scientist and a mother.
Your work WILL improve the lives of people like beautiful Yuna in the future. Thank you for sharing your beautiful, heartbreaking but ultimately optimistic story.
348
What a heartbreaking article. I am so terribly, terribly sorry for this little girl and for her family. I salute their love and courage and wish them well. I hope one day there can a helpful therapy of some kind can be found. I also hope that one day we will have prenatal tests available to detect these conditions.
59
What is most striking to me about this story is how difficult it can be for parents to find answers and support from the medical community, and build a team who believe in their child as much as they do. Yuna's doctor initially refused to authorize gene sequencing, her PTs gave up and stopped sessions, and Soo-Kyung (understandably) collapsed from stress. And this is a family with highly educated, resourced parents. I am the mother of a child with a rare, spontaneous genetic syndrome as well, my husband and I havehad similar difficulties (and are similarly educated/resources). Other families with less access and connections are left without answers and support. The article states that "too little is understood about newly recognized neurological disorders to know children’s developmental limits." But I would argue that science is never going to be able to definitively answer the scope of a human being's potential, which is why I look forward to a future where parents' voices are valued and high expectations are the norm. I was heartened to read that Yuna attends her neighborhood school, and send my very best wishes to the Lees, who I suspect would say they are not optimists, but simply parents.
242
We lived in Chicago until our oldest daughter was 3 years old. Moving home to Puerto Rico, everything and everyone spoke only Spanish. We had always spoken both languages with her but it became overwhelming for her to hear only Spanish. She was confused and it was quite difficult communicating effectively. We went to psychological evaluations and the interpretation of the results by the Psych D was: "Don't bother sending her to school, she will never learn". Needless to say we were thunderstruck. So we took her to a neurologist , an MD with a specialty in neurological disorders: her interpretation of the results and the test she performed: "she's confused right now, may even be a bit slow in getting information, but she'll get there". Her kindergarten teacher appraisal since the 1st day: "She talks a lot and understand everything!!". Today, she has a PhD in Humanities, is a published author, a Professor at a college in North Carolina, has traveled and taught in several countries and given conferences across the USA. We as parents, also college Biology professors, always stood by her and encourage her to do her best. Thank you Dr. Soo-Kyung for sharing your wonderful inspiring story. Never give up, cheers to you for not letting caretakers try to stop treatment. God bless all of you who take care of Yuna.
19
Remarkable people doing incredibly important, personal work. All the best to them and their beautiful Yuna.
136
What a beautiful yet bittersweet story! Having a special needs child myself, one takes each step and celebrate the milestone of feeding without vomiting, of sitting up all by oneself because she figured out how to do it all by herself. Yana will show her parents all she can do and more. And here’s hoping her mother and father can give hope by finding ways to overcome this gene disconnect- but on the same token to share with other families who may be going through the same/similar situation and give them hope that their child can have accomplishments like Yana. What a great little brother Jan is too! What a beautiful family!
66
What a beautiful family! So much love even with all the struggles. I think this will make both parents much better scientists who will never give up on Yuna and she will prove to be capable of much more.
75
This is so beautifully written. So meaningful and heart aching all at the same time. Thank you for this article.
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