Friday, July 08, 2005

A Brief Primer on 1P36 Deletion Syndrome

The syndrome my daughter was born with doesn’t have a common name such as Down Syndrome. It’s designated by the fact that a piece of genetic material is missing from her First Chromosome, the P section (as opposed to the Q section) in a portion known as 36. There are three severities, .1 being the most severe, .2 being in the middle and .3 which is the least severe. My little one has a .3 deletion which means less genetic material is missing than in the .1 and .2 cases.

What does this all mean? Well, every cell in her body is missing some information crucial to my daughter’s development. Even a small portion of missing genetic info can lead to a surprising number of complications. Once my wife and I had a diagnosis for our daughter the doctors recommended we have her brain, heart, kidneys, liver, thyroid, hearing and eyesight all checked out. Children born with this genetic condition have trouble gaining weight, muscle strength, hitting developmental milestones, and learning to speak among other things. Some people with 1P36 deletion never learn to speak more than a few words in their entire lifetimes.

And speaking of lifetimes, how long is the life expectancy for someone like my daughter? The answer isn’t really known. You see, technology to be able to detect this genetic anomaly has only been around about the last five to seven years. So this syndrome has just begun to be studied. Also, because of the technology, the first cases reported were the more severe ones and detection of the .3 deletions is even more recent.

So far 1P36 deletions seem pretty rare too. One in 10,000 children is born with it. To contrast, I think the rate of Down Syndrome cases is 1 in 300 births. So there aren’t any growth or height curves to measure against.

Many of the questions I’d like answered simply can’t be right now. There’s just not enough data yet. That was one of the toughest things for me when my daughter was diagnosed about a year ago. So much was just unknown. My thoughts on that have changed though. You see, if a doctor doesn’t have data on the capabilities of a child like mine, then he can’t say “She’ll never be able to do this or that.” Her potential is solely her own. So my wife and I have decided that we’ll help her to go as far as she possibly can. The unknowns don’t bother me as much since we made that decision.

Something else that comforts me is that it was not caused by my genetic makeup or my wife’s. Some cases of 1P36 deletion syndrome are caused by a symmetric translocation in one of the parents. This means roughly that there’s something different about a parent’s makeup that doesn’t affect them at all but might cause the syndrome in their children. The other cause is just that a piece of that first chromosome simply got lost somewhere. That’s the case my daughter fell into. So the comforting thing is that should my wife and I decide to have more children, they would still have just a one in 10,000 chance of having the same difficulties as my daughter.

So what led to my little one’s diagnosis and how did it impact me? Well that’s a story for another day. For now, let me just mention that I work in software. If a single 0 or 1 is missing from something I create, it just doesn't run at all. Period. God's creations on the other hand, can be missing information from every single solitary cell and still be something of beauty that's indescribable. That's the case with my beautiful little daughter.

19 comments:

Tony said...

Hi.. My son was born almost 10 weeks ago, I was 37 weeks when my water broke and he came out missinf his left middle finger and was a little more under developed than a normal 37 week baby should be, It was then determined he was only 33 weeks. Being my husband and I did not have "lobster claw syndrome" doctor went ahead and order a full micro array of testing and it came back with 1p36 deletion, we are currently in All Childrens for the 2nd time in 2 weeks do to seizures. They had him on meds but he grew out of them and then grew a tolerance so started on 2nd med.
I have found doing research and looking for support groups that people find out so much later in childs life.
We have Physical Therapy already starting next week he will be 11 weeks old. I am going to be making my own page here too but would appreciate any feed back you have on disorder. He passed his hearing test and from what we can tell still has full hearing but what about speaking acting out etc.. have you seen signs of this yet?
Roni - Parrish, FL mom of 10 week old Jaxon diagnosed @ birth

itsebittsie spider said...

Hi you can also join unique its free with lots of info also they have a facebook page. My daughter is now 20 years old and beautiful. Feel free to ask any questions. love laurie mommy of samantha

Doc Taylor said...

My grandson has Chrolosome 1p36 deletion. He is a triple diagnosis with partial autism and ceberal palsy.

I would love to know if anyone else has this dx. I am exploring his dx.

Thanks

Nathan Hanson said...

Hi Doc,

A triple diagnosis?! That must keep your hands full. I'm not sure I've heard of a case quite like your grandson's myself. I'd suggest getting in touch with the folks at 1p36dsa.org and the 1p36 Deletion Support and Awareness support group. They're very supportive and I bet someone will have some similar experiences to share.

Thanks for stopping by and good luck!

Nate

Nicole Noce said...

My son also has 1p36. The first year was a battle. First off were the seizures and feeding difficulties. We found ACTH to work for the infantile spasms, and enfamil A.R. (plus thickeners), along with speech therapy for feeding. The latter part of the year...as he grew older..we ran into more complications..and the list is still growing. Advice that I would give..be patient..read as much as you can about it..be proactive in keeping up with eyes/ears, be very cautious when feeding to avoid aspiration pneumonia, give lots and lots of hugs and kisses!

Nathan Hanson said...

That's great advice, Nicole. Thanks!

brighteststar said...

hey, my daughter also has 1p36. my battle started at 2 months pregnant, when the doctors told me my baby was adnormal and had some type of syndrom and that she might only live upto 5 months, i kept my hopes alive and now she's 5 years old. still with some problems like seizures, behavioral problems, developmental delays but a very happy child, and still hopeing she can be with her family for many more years that love her to death :)

Nathan Hanson said...

Hi BrightestStar, you're story is awesome! Thanks for sharing. Doctors are always trying to put limits on our children and our children are always breaking those boundaries and doing more than anyone ever expects. They are truly miracles. Hope your daughter is doing well. Best wishes!

brighteststar said...
This comment has been removed by the author.
brighteststar said...

Nathan Hanson, yes they are true miracles that fight to prove they are true warriors. they are the ones that show us "normal" people lessons about life and how smart they can be even with their disability

Robert Hillis said...

My Grandson has 1P36. October 17 he will be 4yrs old. He is an amazing happy little boy and it makes tears well up when I think of how precious this little boy is. He is the first and only child of my Daughter. He is truly a miracle. Love and Hugs and Kisses and understanding, patience and the list goes on. Love them and pray for them and enjoy the little children. The ole saying is something like this, treat your children kindly and whole heartedly for some day they are the ones that will be taken care of you.

Robert Hillis said...

Are there any other children in Alabama with 1P36 deletion syndrome? If so I would like to hear from their parents, about their experiences with these precious bundles of joy. Are there any support groups in or around Alabama close proximity for my Daughter and Son-In-Law to join with? It would be hard for them to travel great distance due to financial status and jobs. They both work as we all do just to make ends meet. Thank you.

Nathan Hanson said...

Hi Robert, glad you stopped by. I am sure there are families with 1p36 children near where you are. Let me see if I can put you in touch. All the families I've met have connected up through the non-profit called 1p36 Deletion Support & Awareness. It's a group founded by parents to help each other out. You can find the website at http://www.1p36dsa.org. You can also find many 1p36 parents, grandparents and siblings interacting on https://www.facebook.com/groups/1p36dsa/ which is a Facebook group you can request membership to. The non-profit helps organize a big family conference every year, which will be in San Diego next summer. But that's quite a distance from you. In the Facebook group, I think you'll find talk of more local get-togethers that don't require so much travel. We hope to hear from your family soon! Nate

Bridget Noriega said...

I Just found out that my daughter has 1p36 deletion syndrome. I am so confused, hurt and overwhelmed. Are there any organization or support groups? I'm drowning

Bridget Noriega said...

I Just found out that my daughter has 1p36 deletion syndrome. I am so confused, hurt and overwhelmed. Are there any organization or support groups? I'm drowning

Nathan Hanson said...

Hi Bridget, getting a diagnosis can be really overwhelming. There are some great places to get more info and connect with other families. All the families I've met have connected up through the non-profit called 1p36 Deletion Support & Awareness. It's a group founded by parents to help each other out. You can find the website at http://www.1p36dsa.org. You can also find many 1p36 parents, grandparents and siblings interacting on https://www.facebook.com/groups/1p36dsa/ which is a Facebook group you can request membership to. The non-profit helps organize a big family conference every year, which will be in San Diego next summer. We hope to hear from your family soon! Nate

Unknown said...

Our little girl has 1p36.she is two months old.she is our miracle baby.her biggest obstacle right now is her heart.she just had her first open heart surgery.learning she had this during my pregnancy was hard but we couldnt ask for a more beautiful princess.

Nathan Hanson said...

Thanks for commenting! I really hope everything goes well with your daughter's heart procedures. Have you joined our 1p36 parents' Facebook group? there's instructions how in my post just above yours. We'd love to have you join us!

magali guillaume said...

My big bro is reaching 50 yo soon... We all get there, he is still strong...