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Name: Tonya
[ Original Post ]
I have a 27 month little girl with a very rare genetic/metobolic disorder.As of now the doctors do not know what is wrong with her.My daughters brain has shrunk since birth and has deterated in areas.She also has sleep apnea,reflux,developmental delays, vision impairment,and speech promblems.I guess i was wondering if there was someone with the same symptoms.
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Name: Connie | Date: Jan 19th, 2006 9:08 PM
I am not sure what this could be but, have the doctors looked into doing tests for something call Leukodystrophy? They thought my daughter had this before tests that revealed that it is CP. Just trying to help. God Bless! 

Name: Donna | Date: Feb 16th, 2006 1:03 AM
My daughter is 7. She has "severe developmental delays". Did not walk till almost 2 (we were thankful she did at all). The symptoms you have described sound similar to the ones my daughter has gone through and is still going through. They have no diagnosis other than pervasive developmental disorder - not otherwise specified (pdd -nos). My translation to that is "WE DON'T KNOW AND WE CAN'T TELL YOU." My daughter is progressing, however. She has mycrocephaly (small head circumference), very little speech, has had eye surgery at age two, hypotonia. Lord, the list seems to go on and you would think with all the medical miracles out there, we could get some answers, but unfortunately, at the age of 7, I stll have none... Love her and cherish her and pray. At some point, I kinda told myself it doesn't matter, you're gonna love her any way so what differecne does it make if you know what her "diagnosis" is or not.... But answers would still be nice, I know. Best of luck to you in getting your answers. 

Name: Priscilla | Date: Feb 16th, 2006 4:57 PM
My son is having similar issues. He has a degenerative Neuromuscular problem of an unknown origin. We have been battling his condition for over a year and it is tough. His 3rd birthday is coming up and it is really hard. Hang in there. 

Name: TRACEY CARROLL | Date: Feb 25th, 2006 8:03 PM
HI I UNDERSTAND EXACTLY HOW YOU FEEL I ALSO HAVE A SON WHO IS 18MTH OLD WHO HAS A VERY RARE METABOLIC CONDITION GLUTARICACIDURIA BUT THE DOCS ARE UNSURE WHICH TYPE HE HAS. THEY THING HE MAY BE THE ONLY CHILD WITH A NEW TYPE BUT THEY ARE UNSURE WE ARE GIONG THROUGH LOTS OF DIFFRENT TESTS AT THE MOMMENT. HE ALSO HAS SLEEP APNEA AND FAILURE TO THRIVE HE HAS BEEN TUBE FEED FOR THE LAST 3 WEEKS AND FOR THE FORSEEABLE FUTURE. BUT THE WORST THING IS NOT KNOEING EXACTLY WHAT IS WRONG WITH HIM AND I GUESS THAT YOU FEEL THE SAME WAY.
TAKE CARE TRACEY
[email protected] 

Name: chelsea | Date: Mar 2nd, 2006 5:46 AM
my daughter has vcf syndrome which is a rare genetic disorder which seems similar 

Name: tonya | Date: Mar 28th, 2006 4:29 AM
thank you all for you advice. 


Name: Debbie | Date: Apr 25th, 2006 1:16 AM
Hi there! I have a son with the same symptons your daughter has. He is now 7 years old. He does not have a diagnosis yet. It is very frustrating but I am trying to do what is best for my little boy. Email me at [email protected] and maybe we can keep in touch. 

Name: Tonia | Date: May 7th, 2006 11:00 PM
My child has Propionic Acidemia(rare genetic/metabolic disorder), so if you'd like to talk, feel free to email.

[email protected]
Keep Up the Good Work Moms 

Name: rett mom | Date: May 8th, 2007 11:06 PM
My daughter has Rett syndrome with some of the same problems that your daughter has? How does she walk if any and the function of her hands. 

Name: Lisaet | Date: May 9th, 2007 1:58 AM
Hi Tonya,
I have two little boys, four and two with the same symptoms and brain deteriation. When the doctor showed us the "dead" spots on my four year olds MRI film, all I could see was the outline of his darling little face. It is so hard somedays. They have been diagnosed with Adynlsuccinase lyase deficiency. This is a supposedly a very rare metoblic disorder, but from what I have read it may just be very hard to diagnose. At the preschool program that my oldest goes to there is a little girl with Retts who also presents as you have described. Please email me if you have any question or just need to talk. [email protected] 

Name: bobbyng | Date: Jun 13th, 2007 3:41 AM
You may want to read up on a disorder called CDG or Congenital Disorders of Glycosylation. A Fairly new disorder that has similar symptoms. It is becoming more and more common throughout the world. Testing is pretty simple and quick. If you would like to learn more about it. Just read up on the net. 

Name: Ashlee | Date: Jul 12th, 2007 1:29 PM
I'm only a 12-yr-old kid, but i want to say im sorry. i hope they find out wats rong! hang in there! 

Name: kimdaffeh | Date: Jul 19th, 2007 11:56 AM
i have a two year old daughter who has just been diagnosed with leukodystrophy.and she has all the same sypmtoms she was fine until she was seven months old now she is kike a newborn again. never give up hope you are not the only one 

Name: stacey | Date: Sep 26th, 2007 3:05 AM
Hi, my daughter also has propionic acidemia. She was diagnosed almost 8 years ago. I have never spoken to anyone who also lives with this but I have been recently feeling like I need some support. Please email me if you would like to chat. [email protected] 

Name: Tonya | Date: Oct 10th, 2007 3:48 AM
It has been a long time since i have been on this web page.My daughter will be turning 4 in october.Nothing has changed.still no answers.She is in preschool for speacial needs children,the class and the children are wonderfull.thankyou all for the advice.god bless. 

Name: amine | Date: Nov 14th, 2007 7:59 PM
je veux chat avec les ami 

Name: amine | Date: Nov 14th, 2007 8:14 PM
my msn [email protected] I beaucou this site is so Please take my msn is I want all the good luck mond 

Name: kimdaffeh | Date: Feb 28th, 2008 12:42 PM
my daughter who has now passed had the same problems she had a condition called leukodystrophy 

Name: Sara | Date: Jun 1st, 2008 5:54 AM
I have a 6 year old son who has unknown genetic disorder. He has siezure disorder and the white matter area of his brain is not fully developed. He also has vision impairment, developemental delays. I was wondering if there was some one with the same symptom? 

Name: Shaune | Date: Jul 1st, 2008 3:46 AM
What has happened with your daughter? This posting is sooo old. I have a daughter who sounds similar and has been diagnosed with a rare disorder...CoQ10 deficiency. Try giving her CoQ10, scale it up from 30 mg...to ? increase the dose every couple of weeks, see if it helps. My daughter is 5 and would be dead if the Dr. hadn't found this diagnosis, I am sure. She now takes 3300 mg per day and is doing pretty good. She still has delays but otherwise she is happy and cognitively advancing every day. There are no side effects from CoQ10, if your daughter becomes restless, back off the level a bit and leave it there. My daughter's therapists saw a difference in her within a couple of days...literally, Try it, it can't hurt. 

Name: sharon | Date: Jul 12th, 2008 9:56 PM
i have a 8 year old son that has a genetic disorder that the doctors still don't know what he has and it scares me because i don't know what is in his future 

Name: sharon | Date: Jul 12th, 2008 10:01 PM
i should of told you alittle about my son he was born with a laryengel web,his left side of his body even inside is bigger than his right,he now has a g-tube he couldn't gain any weight he is now up to 40 pounds he has a lot of charics of many different disorders but everything comes back fine so now i wait again until new test comes out and they can test again 

Name: cliff nolan | Date: Nov 26th, 2008 3:08 AM
Hi guys, I'd like to know more about the identification of the Coq10 deficiency that Shaune speaks of in July 2008. My 18 year old boy has a diagnosis of leukodystrophy not otherwise and doctors are offering nothing as a remedy. Fraser was never main stream but attended primary school perfectly happily till struck by a serious and prolonged seizure episode at age 9 and has been slowly going down hill since then. He is now on a walker and his speech has deteriorated to the point where it is impossible to have a conversation. 

Name: Angelsimra | Date: Aug 23rd, 2009 7:03 AM
I read several posts in this website of children with unknown disorder. We would like to share to our experience with you all. Please visit Angel Simra's website www.angelsimra.org

Some of these disorders are so rare that doctors cannot put a name to them. Please have faith, keep searching for the answer and advocating for your child. 

Name: some cool christian dude | Date: Dec 4th, 2009 7:53 PM
god works mysteryously so keep the faith and pray 

Name: fairydust | Date: Feb 19th, 2010 3:48 AM
Hi I know you must feel so frustrated and scared. Its not easy I know I have a daughter who has a genetic metobolic disorder and at 13 they finally think its Mitochondrial Disease it took many years of doctors, tests, hospitalizations before they agreed it was Mitochondrial Disease. I am not sure where you live but ScottishRite Hospital in GA is one of the best metoboic research hospitals out there If you need anything I am here.. The unknown is the hardest. Just love her and remember YOU have a PIECE of HEAVEN on EARTH in your baby. God Bless xo 

Name: krystinakoleen | Date: Feb 20th, 2010 2:34 PM
I actually experienced the exact same thing with my son. He has a rare genetic disorder called Hypomelanosis of Ito and also has Fragile X syndrome (Fragile x isn't rare at all though) But the H.I. only has 100 cases ever reported in the whole world. My son had all the symptoms you just listed to a T....However I think if your daughter had the disorder my son has you would know it, because the other thing is causes is swirling in the skin....My friends used to call my son the cinamon toast cruch baby because he had darker swirls of skin on his body. It looks really cool, on him though. It looks kind of like a henna tattoo.
I know his disorder is actually more common in females though....
I would recommend seeing a genetic specialist, obviously I'm not sure what your insurance position is, but I know even if you only have medicaid they will pay for you to see a genetic specialist for children.
Good luck! 

Name: bob | Date: Jul 1st, 2010 12:30 AM
hello 

Name: judy rose taylor | Date: Aug 27th, 2010 4:26 PM
its retts syntrome 

Name: patricia | Date: Aug 29th, 2010 2:08 PM
my daughter is 9 months old yesterday we were told that her brain is smaller than normal and its not fully developed i think they said it was called actrafee what does this mean 

Name: kartik jigyasi | Date: Dec 6th, 2010 10:22 AM
hi 

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