Who is arm22q13?

Mitz Carriers no names small

Lucky Guy

I am an exceptionally lucky guy.  I was born into a well-off, intellectual family in a city filled with opportunity. I completed my engineering degree at a prestigious university, paid for by my parents.  They supported much of my Master’s degree work.  I landed a great job and, a little later, my boss arranged my entry into a PhD program in brain research.  Five years after that I was a freshly minted neuroscientist and it just so happened that a top research institute had an opening for my skills. I must say, things have really gone my way, professionally.

Unlucky Guy

I am an exceptionally unlucky guy.  I am a carrier of 22q13 deletion syndrome.  If you are not familiar, 22q13 deletion syndrome is rather unfortunate.  Everyone with this disorder ends up incapable of being self-sufficient.  Many need help every day with dressing, eating, toileting, etc.  Some can’t walk and others have frequent, incapacitating seizures.

As I say, I am a carrier.  The figure with red, blue and green lines maps carriers (in red) from my great-grandfather to my father, as well as other carriers in the family.  How rare (unlucky) am I?  There are 1,100 knows cases of 22q13 deletion syndrome worldwide.  Fewer than 15% arise from carriers.  The rest are “de novo“.   In other words, most parents of children with 22q13 deletion syndrome can produce only one offspring with the disorder.  I can produce multiple children with this deletion syndrome, and I did.  So, using just a bit of math, there are about 165 carriers identified in the world.  I am one and that is pretty darn unlucky.

The Next Generation

My son, David, has 22q13 deletion syndrome. He lives in a group home.  My wife and I had to teach him everything: how to lift his head, sit up, crawl, and how not to fall on stairs. He finally walked by the age of 6 and ate food by mouth by the age of 9.  He does not speak. There are many other things he still cannot do, but at least he has a few of the basics.  I did not sleep much the 24 years David lived with us. I usually had the night shift and David rarely slept through the night. When David was an infant, I stayed up at night overseeing his oxygen tank, apnea monitor and tube feeding machine.

For the first 15 years David’s syndrome was a total mystery.  Now it has a name and an etiology.  A bunch of genes have been lost thanks to this inherited balanced translocation that I have traced back 6 generations to a small Jewish community in Poland.  That community was wiped out by the holocaust.  Some of the Polish-born family members survived the war.  Ironically — tragically, Nazi eugenics was successful in cleansing the carriers from the branch of the family that did not leave until after the war.  The chart, above, shows the carriers from families that left Europe before WWII.

Blogger Guy

Caring for my son was a full time job on top of my career.  When David moved to his group home 5 years ago, I had the time to dig deeply into the science of 22q13 deletion syndrome.  It is complex.  In fact, it took time to understanding how it should be studied.  At this point, there is presumably no one else who knows both the scientific literature and the reality of 22q13 deletion syndrome as intimately as I do.  I would like to share that joint perspective with you.  If nothing else, I hope you feel the passion I have for the science and how it connects to the experience of living with 22q13 deletion syndrome.

22q13 deletion syndrome is an elephant being examined by  blind men (and women), many of whom live with the elephant every day.  Some only ever get an opportunity to touch a few parts. Some are simply happy not to be trampled.  I like to examine the elephant in its entirety.  It is a big, beautiful creature that may never be tamed, but we owe it to our children to try.  My hope is that most people want to be educated and educated people will work together to solve the important problems.  I emphasize “important problems”.   Deciding which problems are important, and why, is a monumental task. It takes caring and knowledgeable people who do not have a conflict-of-interest to guide families towards meaningful and fair decision making.

I do hope that I can make a difference by sharing what I see as important.  Families and scientist are my friends and colleagues.  I invite them to join me as we examine this elephant, together.

arm

6 thoughts on “Who is arm22q13?

  1. i am a mom to a 12 yr old boy who was diagnosed with phelan mcdermid syndrome and I want to continue to learn and hear from other parents. I need to advocate for him. Glad I found this blog.

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    • Thank you, Mark. I went twice with my family and was very involved for a short while. However, I no longer attend the conferences. I became disillusioned with the organization that runs them. My efforts go here, into the blog. I believe families want to learn about the science from a perspective they can appreciate.

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  2. Thank you Andy. I have tremendous respect for your very unique position, your scientific mind and your closeness to 22q13. I firmly agree that your perspective offers a uniquely qualified view of our shared dilemma ( I too am a carrier) and I am grateful you choose to dedicate yourself to examining the data as it comes out, and provide an educated analysis at the 100 mile high view where I can follow your reasoning. Having said that I’d like to suggest that no matter what the PMSF position might be regarding research, they have little if any control over how research money is spent or how the specific research topics are chosen. I wish there were an amicable way to resolve your differences and at least make your unique view of our world available to all of us in a way that would expand this world to all of us. Again, thank you!

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    • Thank you for the kind words. I disagree, completely, regarding the role and influence of patient groups in the direction of research resources. From cancer to AIDS, and, yes, rare diseases, the influence of patient groups is a matter that has been very well documented. I recommend you better educate yourself on this subject. It is rather opaque to the outsider, but there is intense pressure on clinical and other researchers to have patient group support. I will not get into specifics, but there is nothing unusual in the case of 22q13 deletion syndrome in that regard. I am not sure what you mean by “amicable way to resolve your differences”. I do not feel the Foundation has been nasty or mean, just misguided. I have taken a very positive approach – education – to help steer parents, scientists, clinicians and organizations towards outcomes that we parents so desperately want and need. Thank you for your thoughts. I do hope a more educated and, ultimately, a more productive direction does ensue. Otherwise, real benefits will be a long time in coming.

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