Just Got Diagnosed With A Rare Disorder Called Gomez- Lopez- Hernandez Syndrome

Its been a long 25 yrs. Hall but fulfilling, haveing a son born with Cerebral Palsy and only recenttly diagnosed with GLH. He has thot me alot through out my years. He is a warm loveing and intelegent young man that loves attention ..sometimes hes fresh but I love my son very much and he puts a smile on my face everyday of my life. I say hes a momas boy and he agrees with me! I do love spoiling him till this day.

He was born with cranial abnormalies and was shunted for Hydrocephalis at 1 yrs old. He has difficulties walking but thank god walks..but always in a hurry walk. Im always reminding him to slow down...and sometimes he does fall. He also has myclocephaly and has facial anesthisia. With alopecia on both sides of his head [ patch ] low set back ears and dificulty in speach and eatting. But very very happy smilely individual, since he was a baby..I think he was born smileing..LOL sooo stinkin cute! Ahh memories! He is so handsome and he himself is convinced of it...LOL what a personality. Every person alive that knows him says hes enriched and touched their lives one way or another. He is outgoing and loves meeting new people. He takes that from me...my husband is more shy and quiet. He also has a deep faith in God almighty and thats what keeps all of us going.

I was wondering if there is anyone else out there with this rare disorder? I been trying to educate myself on this and compareing my sons records with this GLH Syndrome and its like a hand and glove! Finally a Genetics Dr. told us and gave us what we need to hear. So the reasurch began, I read there is only a handfull here in the United States about 21 individuals. So if you are willing to share your thots and history with my son and I ..we would love to hear from you. Recently I read there was a little baby in the UK just born with it in Jan. this yr 2012. So this goes out to the parents of this little girl.. congratulations and God bless your little family member and all of you. Heard she was shunted also for Hydrocephalis. Hope shes doing well. Maybe who knows the mom could some how end up reading this and conecting with me.. that would be awsome...we could learn from eachother and I could help in anyway.

Thank you and hope to hear from anyone and all.

paradisevanda paradisevanda
46-50, F
May 13, 2012