very rare genetic disorder and brain abnomalities aswell

Sharlene - posted on 10/26/2011

Hi he sound like a miracle baby from angels,Godbless xxx

Alyssa - posted on 10/26/2011

I realize I am late on catching this post but I wanted to spark some more interest on rare genetic disorders. My son is 3 and has a partial deletion of 20q13.33... very rare and almost no information regarding it. It is a learn as you go type of disorder... one that has affected every body system and most obviously, his brain. Some doctors are helpful while other have just been plain detrimental to his overall development. How does one know where to go next?

Diane - posted on 07/27/2010

I know where you are coming from. My son has Antley-Bixler Syndrome. Same with my son, he wasn't expected to live. Now hes 5yrs old. doctors were amazed. Nero said he was supposed to be a vegetable because of the miss shape brain. he may not sit, walk or talk but he can wiggle every where on this back and he gets his point and wants known. We almost lost him 3 times but hes the toughest little fighter with a will so mighty and a heart so grand. My little hero.

Mary - posted on 05/28/2010

Amanda, we share your same story. our sweet darlingGrace has PDH/PDCD diagnosed at birth. She is 18 months now though she is only at 6mths ability. Big question now, is whether we should start her on Ketogenic Diet. It is not proven only theoretical makes sense. I read there are 500 PDCD cases in the world. Still it is considered rare. so no track record, no R&D.

Amanda - posted on 04/16/2010

Hello everyone, i am happy to hear all your kids are doing well! Its really amazing what they can prove to us and the doctors and all positive too. Our daughter is just shy of 10mnths old and she has proven her doctors wrong on some things they told us while she was still in the NICU. Born 2 wks premature and kept in the NICU 2&3 for 2mnths afterwards. Doctors didnt know what she had at first but could tell things werent completely normal. *Its such a shock and heartbreaker when this happens and you know you can't do anything to help at that point* Scared nervous angry plus more all rolled into 1 is how it feels :-( Finally after being transferred to other hospital in gainesville and a couple tests "besides all the one they had to do and send out for lord only knows how long till results come back" they found she has PDH/PDCD *Pyruvate Dehydrogenase Complex Deficiency* a mitochondrial chromosome metabolic issue. Savannah is unable to break down carbohydrates and sugars which effects her keytone and lactic acid levels...... Born 5lbs 3oz and instantly dropped down to 4lbs 6oz n losing. Doctors tried everything in their "special formulas" that would help gain weight but it didnt work until; RCF formula came around in addition to mct oils microlipids and nano vitamins to add the normal nutritian babies need. Couldnt breast feed or have anything normal, ths is her lifetime formula. Sugar free carnitine 2x a day and that keeps her weight up. On top of that she could barely suck so had to keep a feeding tube in her nose, so painful to us. After a while we worked with her and finally after 2 months she gained enough weight to come home and finally be with mommy n daddy :-) I told the nurses and doctors that she is our miracle baby and with everyone we knew praying including us she has pulled through amazingly. We love love love her soooo much. She has come up to 13lbs finally. Other issues with her disorder is the children usually dont live long lives, theres only 40 cases in the whole world so not a lot of info. is out there for them. Girls live longer than boys and some dont live past 5yrs of age... :-( This is soooo extremely hard to live with each day but not for our sake, for Savannahs; she is the one that has to make it through this but not understanding why she's like this at the same time) She was born with extreme brain abnormalities due to not growing while in the womb. No one knows which parts are highly effected than others because the MRI wasnt all that clear, and most of her head has water consumption. They say she wont be able to walk, talk, write, be real mobile or have good smarts.... She has a nutritionist, genectics doctor and regular pediatrician on top of speech/hearing physical and visual therapys and occupational therapies.... Our little has come a long long way on a long rough road that still keeps its end in distance as we look down her path to each miracle.... She's 9mnths 3wks 6dys old and still looks brand new :-) everyone asks when they see her. I know how precious she is and i know she will over come most of this *i say most because some things are just inevitable* we proved them all wrong when i brought her home and told them she will not use the tube for feeding and she still has not, the bottle works just fine :-) Her vision is starting to slowly focus for her and she mumbles her little opinion right along with everyone else lol She still has balance problems with her neck being unstable and cant sit up but thats in due time as is everything else. She finally has 2 teeth in now growing slowly but surely in every aspect there is. Just remember, they get there when they are ready and at their own pace. Babies are amazing special people and can overcome alot. God bless everyone who has to live with disabilities in themselves or family etc cause its not easy. Thank you for taking the time to read this.

Jennifer - posted on 04/15/2010

my son have arare condition too a deletion on first chromosome q 44 doc says good luck with him today hes 13 years old....miracle exist

Michelle - posted on 04/10/2010

Glad to hear he proving them wrong !! My son has proven Dr.s wrong with his chromo.2 deletion also. Now when they say something negative it goes in 1 ear and out the other, GOD and my son will decide what he can do not Drs.

Casey - posted on 04/10/2010

My son has a deletion at 20q13.31 and a duplication at 22q13.33. Our geneticists has never seen this before and is still looking into it. Hopefully they will know something when we go in 2 weeks. I also found a lot of info. on the UNIQUE website, and became a member b/c they had 3 other kids with this variant. As far as medical technology has come, it hasn't come but so far!

Marissa - posted on 04/08/2010

My son has a 16p11.2 duplication, delayed mylenation, PDD_NOS and intellectual impairments. The local genecists have never heard our my son's genetic syndrome either. I got more information on Unique than through them.

Kathy - posted on 04/07/2010

Curious- what is his chromosomal abnormality? My son has partial trisomy 16. when first diagnosed, athe geneticist had never heard of it... glad things are going well. :)

Becky - posted on 04/07/2010

Glad he is proving them wrong! My son has many brain/spine anomalies too. Enlarged ventricles, hypoplasia of the corpus callosum, chiari malformation, syrinx, tethered cord, meitopic synstosis, decreased myelin, and also a non-brain midline defect esophageal atresia/tracheoesophageal fistula. He will be 3 in a few weeks and all of his docs are impressed with how well he does. We are sure it is related to his chromosomes due to some other genetic markers and having 2 cousins with related issues, but we haven't done testing at this point. Thanks for your positive message!