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.

30 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

Nate 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

Unknown 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!

Nate 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 :)

Nate 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

Unknown 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.

Unknown 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.

Nate 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

Unknown 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

Unknown 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

Nate 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.

Nate 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!

Unknown said...

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

Jessa said...

My sister has 1p36 chromosome deletion. she had seizures as a baby,has a heart defect, and battles some minor health issues now.my parents were told that she may never be able to walk or talk when she was a little girl.well she proved those doctors wrong because now she is always on the go and talks nonstop lol.she's 27 and can pretty much do everything on her own and is very intelligent.we never gave up on her.when you're able to look past statistics or opinions that doctors Provide,you can focus on the miracles that God can and will create in special people like herself.

Nate said...

Jessa, that is awesome! Thanks for sharing! My little Whitney is 13 now and loves going to middle school, listening to music and being with her friends. Her life is filled with health challenges, but she's doing great. Way better than what the doctors told us when she was diagnosed. I totally believe in miracles because of what I've seen with her. Thanks for sharing about your sister!

Kahea said...

My son is diagnosed with 1p36 deletion syndrome as well... he was a 34wk preemie.. he have Bilateral Cleft Lip and palate as well as heart complications... hes been in the NiCU going on 6wks now... its hard to take in but i know GOD is working HiS Miracles daily on him... I would like to know Were there any delays in your babies?.. what milestones have they hit?... Dr told me my baby will have mental retardation, delays, and will have to be tube fed?... did any of your children go through it?

Kahea said...

Amazing!!... Praise God!!.. My son is diagnosed with 1p36... he's a preemie born at 34wks.. he have Bilateral Cleft Lip and palate as well as heart complications.. hes been in the NiCU 6wks now...im scared.. and worried.. drs told me he'll have mental retardation, delays, and have to be tube fed... its alot to take in..but i know God is working his miracles on baby daily... God's BLESSiNGS upon you and your family...

Nate said...

Hi Kahea!

Thanks for sharing. It sounds like you're going through quite an adventure of your own with your son. We talk all about development, milestones, feeding and what to expect in the future in our Facebook support group page. Here is the link to join: https://www.facebook.com/groups/1p36dsa/ Hang in there! Getting a diagnosis is tough but there will be great times ahead too!

quiet said...

wow, i just read this almost 13 years after you wrote it. my daughter was just diagnosed and the paragraph

"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."

really resonates as I work in software too!

Nate said...

Hey, quiet, that's really cool. Glad you liked the post. I can't believe it's been 13 years since I wrote that. My daughter just turned 14 last week. The time flies by. Are you in the 1p36 Deletion Syndrome Facebook group? There's a bunch of families like ours there to chat with. Come join if you haven't!

Unknown said...

My bouther japleen 3years old .1p36 deletion syndrome.she no sitting no other movement only cartoon watching.early sick . please suggest me daughter future .m 9888121218

Nate said...

Hi! Many 1p36 patients can't do much when they are very young because of low muscle tone. My little Whitney was the same way for a long time, but she's almost 16 now and goes to high school. She has lots of things she needs help with, but she's doing well. I'd love to tell you more. Please join our 1p36 Deletion Syndrome Facebook page. We have lots of parents and family members who could answer your questions and help out. Here's the link: http://www.facebook.com/pages/1p36-Deletion-Support-Awareness/164985741030?ref=ts

Unknown said...

My granddaughter was recently diagnosed with 1P36 and she is almost 5. She has only had some speech delays prior but in the last 2 years she has really caught up and talks nonstop! She has none of the facial features but does struggle with fine motor skills. She seems normal in every other way. She is a kind and very sweet little girl. Has anyone ever been misdiagnosed with this?

Nate said...

Hi, I imagine there might be children who were diagnosed by mistake, but usually a genetic test with a syndrome like this is pretty conclusive. The severity of 1p36 deletion cases varies a lot. Some cases are more severe and affect lots of aspects of a child's health. Others, not nearly as much. It might be good for you to join the 1p36 Deletion Syndrome Facebook group. There are lots of parents who could better answer your questions there. I hope you and your granddaughter are doing well!