Thursday, January 26, 2006

The Poster Child for 1P36 Deletion Syndrome

About once a year my wife and I have the privilege of taking our daughter to see Dr. Susan Lewin. She is the geneticist who has followed our adventures from our little one's diagnosis with 1P36 Deletion Syndrome. Seeing her is always refreshing because she is the only doctor who knows more about 1P36 deletions than we do. So instead of explaining, my wife and I can listen to the advice and counsel she gives.

This year, Dr. Lewin and her team told us that my daughter is "the poster child" for 1P36 deletion syndrome. She has progressed the most and the quickest of any of the 1P36 deletion children she sees. Yesterday, the doctors kept rolling a ball across the exam room floor for my little one to go and get. They were just so pleased to see her crawling.

Dr. Lewin has also mentioned that the Genetics Department will be releasing some new literature in which my daughter plays a huge part, thanks to what they've learned from her. That made me so happy. Not because of any notoriety, but because this information will help other doctors who treat children with the same difficulties as my daughter. Now parents will have a better understanding of what to expect, and just how well their children can progress with 1P36 deletions. That, to me, is very exciting.

The news wasn't all rosy though. Dr. Lewin was in agreement with my daughter's regular pediatrician about my daughter's eating. She has plateaued in terms of her height, weight and head circumference. She recommended we see a Gastrointestinal specialist who will be able to help us diagnose any possible problems. And possibly advise us about a gastric tube implant to make sure my little one is getting the nutrition she needs. This didn't come as a huge shock, but it was so good to hear someone we trust tell us that it should take six feedings of over an hour each to properly nourish our child.

I am so thankful for doctors who practice medicine in order to better the human condition. Especially those who do it for children.

18 comments:

Mallory said...

My name is Mallory and my husband Mike and I have a little guys named Maxx who also has 1p36 deletion syndrome as well as a 1q43 duplication that has been translocated into the deletions place. Anyways, I was wondering if you have heard about our support group on Yahoo groups. ANd we have a conference coming up here in Indianapolis, IN. If you're not part of the group already, I'd love to invite you! I don't know what I would do without our support group. They have been amazing in helping me cope and learn new things.
Thank you,
Mallory
mom to Maxx 2 and 1/2

Nate said...

Hi Mallory, nice to hear from you. Thanks for the invite to the Yahoo group. We actually have reservations to join everyone at the conference this summer. We look forward to seeing you there and meeting Maxx in person. :-)

sweetpinkie said...
This comment has been removed by the author.
Nate said...

Hi SweetPinkie, glad you found this site. To find the support group and learn more about 1p36 Deletion Syndrome please visit www.1p36dsa.org. That is the home of 1p36 Deletion Support & Awareness, a new non-profit organization dedicated to serving those with loved ones with this disorder. I'm a member myself. Hope to see you there.

Nate

Eliza said...

Hi Nate, I also have a child that has a 1p36 deletion. He has severe speech difficulties. He is walking and he is also able to play with his siblings. Don't loose hope your baby will be walking before you know it.

Christina said...

Hello, My name is Christina and I just found out today that my third child (Girl) who is 12 day old has 1p36 deletion syndrome. We are located in Texas and actually the NICU she is currently in has never had a case like hers before. I am still trying to register what this syndrome is and how I will be able to handle this when she is able to come out of the hospital.

Nate said...

Hi Christina,

I hope you're doing okay. Getting a diagnosis is quite a shock and your little girl is very young. If you go back here on this blog you'll read all about my Whitney's NICU stay. They can perform miracles for our little ones. To find great resources about 1p36 Deletion Syndrome and join our online support group, please visit www.1p36dsa.org. There, you'll also find quite a few families located near you if you'd like to meet some families and some of these remarkable children in person.

squaw1 said...

Hi Nate,I'm from Poland ans I also have a little boy with 1p36.As all the kids he has major problems with gaining weight and his growth,I have one question about dr Lewin's recomendation about feeding- I dont really get this 6 feedings for over an hour each.Do U mean that every single feeding must last for 60 mins?can U pls explain it to me?do U spend 6 hors a day on feeding a day?
thanks in advance
I'd also like to ask Ur wife about sth but maybe not here where everyone can read my question and Her answer,dont know if U can give me Ur email
M.D

Nate said...

Hi MD, I'm glad you've joined the community here! I hope things are going well with your son. The eating problems do seem to get better over time. This post actually has an error in it. Dr Lewin said it should not take 6 hour-long feedings a day to get Whitney enough food to survive. Many little 1p36ers have a feeding tube implanted to help them eat during the difficult early years. To find out more information you're welcome to email me. My address is nate.hanson (at) gmail (dot) com. But you should also visit www.1p36dsa.org which is a great charitable organization for kids like ours. Please also join the 1p36 Deletion Support & Awareness Facebook group where there are tons of parents discussing all kinds of things to help our kids. Hope to hear from you soon! Nate

angela said...

hi i have a daughter nearly 13 . she is able to walk and get around if a little clumsy with poor co ordination . she is the jolliest child youd ever wish to meet . unfortunately she has severe speach difficulties , so charades is the game most days . id be more than happy to chat with anyone about the condition . as it makes one feel less alone . x

Nathan Hanson said...

Hi Angela, good to hear from you! We're definitely stronger in numbers. Are you a member of the 1p36 Deletion Support & Awareness Facebook group or a member of 1p36dsa.org? There are a lot of families with newly diagnosed kiddos that would love to hear from you. Thanks so much for reaching out to help others. The first little bit after diagnosis is always hard.

my_angel_Melanie_1p36 said...

hi my name is limbania i have a daughter her name is Melanie she turned 7 months in april 13 she was diagnosed with 1p36 deletion syndrome when she was 6 months,my question is are there groups that are spanish? or some families you know that speak spanish?thanks so much.

Nathan Hanson said...

Hola Limbania, yo hablo un poco de espanol. Tambien en el groupo "1p36 Deletion Awareness & Support" hay gente de Puerto Rico, Honduras y otros lugares que pueden contestar sus preguntas en espanol. Creo que hay un link a la derecha de este blog. Saludos a Melanie y nos vemos en el Facebook grupo.

Angela Trefethen said...

Hi! My name is Angela and my husband Aaron and I adopted our seven-year-old daughter Diana from foster care (she was 5 at the time). As we were finishing the adoption paperwork we learned she has a 1P36.33 deletion. We were devastated because we were told her delays were due to neglect and that she was catching up, yet she had lived with us as our daughter for several months with the intent of joining our family. At any rate, she is now our daughter. Has anybody had an success with potty training? Diana is potty trained completely during the day, but completely untrained at night.

Nathan Hanson said...

Hi Angela, I bet you're adjusting to all kinds of new information with Diana's diagnosis. As for potty training, your daughter is ahead of mine. Whitney still struggles with accidents day and night mostly just due to an over all lack of body awareness. When we remind her, she goes, but if she's involved in anything that takes her attention, it's usually bad news. We haven't attempted night times yet.

To be involved with some great conversations with a big group of 1p36 parents, please come join our support group at http://www.1p36dsa.org and also find the 1p36 Awareness & Support group on Facebook, if you haven't already. There are many knowledgeable parents in the group and we're all there for each other.

Hope so see you there!
Nate

sweetpinkie said...

Hi I have a daughter with 1p36 deletion syndrome she was diagnosed at age 3 she is 8 now and I was just wondering if anyone else is experiencing vomiting episodes her dr has diagnosed it as cyclical vomiting

Nathan Hanson said...

Hi SweetPinkie,

Whitney has frequent bouts of stomach flu just due to a poorly functioning immune system but she's never been diagnosed with anything else with regard to vomiting. If you haven't already, that would be a great question to post in the 1p36 Deletion Awareness & Support group on Facebook. It's a big, active, helpful group and I'd almost guarantee that someone else there will have had a similar diagnosis.

Good luck!
Nate

sweetpinkie said...

Thank you Nate :) I don't have a Facebook account