New Diagnose: Gomez-lopez-hernandez Syndrome 25yrs Old

Hi, Im a mom with a son who has Hydrocephaly/ shunted and craniosynitosis. We went to a genetics Dr. visit. Which visit wasnt my sons.
Let me explain: My husbands sister has been haveing many symptoms for yrs. and finally is on disability. But been sick and seeing All kinds of Drs. in Boston and finally the Genetic Dr. who feels its Genetic because other family members from cousins to Great grandfather who ended up in a wheel chair and seizures. Also a nefew who passed away at the age of 12yrs from multiple brain and cranial malformations and a heart condition. So the Dr. wanted to meet my son. For my sister in law could only tell the Dr. my sons diagnose as well as Cerebral Palsy which is just a general term. So we went along with my sister in law on her visit.

She emediatly gave my son the diagnose of GLH Syndrome when she saw him and asked a thrillion questions. My sons a very handsom man and is so loveing to all people. he has a humerus personality. He is very intelegent. But only now has taken interest in trying to read. So at this time he canot read.[ My schooling was limited so please bear with me..cant spell very well but improveing.. LOL ] Anyways....But my sons head is shaped very differently and has a towering head with alopecia on both sides of head in the form of patches. Low set back ears and eyes set a little more apart then the norm.. if you will. I always told him he is handsom because he is and everyone says so...and nobodys perfect and we all have disabilities. some more then others..we are all special in many ways.

So he turned out to be my Hero..even with all his problems he managed in this world and is a very strong individual...lets just say he is a Momas boy and admitts to it! LOL... I love him soooo much and would do anything for him.

But know with this new diagnose and the fact that it is a rare Syndrome.. disorder. I was wondering if I could talk with anyone out there that has a loved one or who has this GLH Syndrome and would like to share any information includeing the growing up yrs. I have so many questions and did a lot of reasurch on this subject.

No Dr. has ever explained what my son has and only spoke giberish to us and I was very shy and never asked questions when he was growing up. I just convinced myself..ok this is what it is..and just moved on. Went to yrarly check ups and only when he needed surgry would see to it. But no one never told me hay you should continue trying to persue a diagnose and continue seeing specialists.
I was and am a stay home mom and 2 yrs ago was diagnosed with MS and 5 yrs ago with Bipolar.

But im highly excited to meet individuals who also has this rare disorder and who might want to know also my son thru me. Would love to share information. So this is my brief story... Thank you Hope to hear from someone or all even.

Anyways:
paradisevanda paradisevanda
46-50, F
1 Response May 13, 2012

Hello, Please dont feel alone there are more people with this condition than you will have been told about. Are you on facebook, if so there is a support group on there for us parents. My daughter got diagnosed at 6 weeks old with GLHS. There is not a lot of good medical information available but us parents are helping each other through.

Hello, and thank you for conecting and shareing. I been totaly out of it lately. Its mind bogling. SO i took a break from being on the internet searching. But I do feel a lot better now. Ju st needed rest from it all. How is your daughter? Is she healthy besides? My son is one who never really got colds. Even when he was enrolled in the school system surprizenly he hardly ever got sick. My son will be seeing a new Dr. by the end of this month. I cant wait to see if he can help him with the gagging he sufferes with everyday for the past 8 yrs.
And if you know anything about this gag reflux issue that could help me. I would really apreciate any help. Thanks