Anophthalmia Treatment

[Barsha]

Hi
My name is Barsha. My son David , he is 1yr and 8mths. He was born with bilateral anophthalmia. We live in the Bahamas and travels to Miami for treatment by the Ocularist. He has had conformers, now he has artificial eyes. However , they have to be changed as he grows.

I would like to know how to contact a geneticist so that we can have genetic screening done as soon as possible.

Thank you for your response.

[concerned_dad]

my daughter has bilateral anophthalmia as well. She is three and severly developmentally delayed. How is your child progressing??

[Leatta]

Our daughter is 7. She has bilateral anpphthalmia and was adopted at age 3 1/2 with a developmental age range of 8 months to 12 months. She is also hard of hearing and has an abnormal EEG (not seizures, but not right either). She is missing all or most of three structures in the brain, and we were given very little hope of development by the nuerologists.

She is in kindergarten in the regular classroom most of the day and is learning Braille and some sign language. Her biggest delay is now communication and social development, but she has lots of friends at school. She is physically close to age level and uses her cane skills above age level. Despite her hearing loss she loves to play the piano and pecks out almost any tune on request. However, she is not potty trained as she does not seem to hold back urine. She is almost always a little wet. The endocrinologist says that this may be tied to the missing pituitary gland.

We have limited successes with conformers because her sockets have major changes quickly. This seems to be due to having no treatment for so long prior to adoption. We keep the ocularist busy and just keep working at it.

[cjhanes]

Hi, I have a grandson that was born on Dec.18th he has Anophthalmia,(he didn't develope no eyes) This has been such a big shock to the whole family, he is being seen by different drs. no one in my area which is Lexington North Carolina seems to know anything about this, they are kinda just all playing guessing games, we don't even know as of yet if he can even hear, he did not pass his hearing test before he left the hospital, please if anyone has any advice that you can give me and his parents it would be so greatly appreciated, thank you so much from Skyler's Gramdma, Carolyn

[jodi]

Caroline,
Congrats on your new grandson! Just remember, he's like any other newborn-needs held, fed, diapered-he just can't see. He knows no different-being blind is tough on his family, not him. Hang in there!! It's gets easier as the days go by... There's some good info on this site that can direct you medically.
Jodi

[cjhanes]

Jodi,
Thank you so much for the inspritation, he is loved, held, and kissed a million times a day especially by his big sister, I know he doesn't know the difference in being blind but we do and that is what makes it so hard, you are right it is much harder on us than him, but it is so hard when you take him to a doctor and they all look at each other and scratch their heads and say we have never seen this before, most of the doctors in this area have know about Skyler for at least 1 month now but you can't find 1 that has done any reasearch on his condition, I have done more research and tried to find out more about his condition than any of the doctors around here, if anyone that is reading this knows about Fraser Syndrome please email me at cjhanes@ptmc.net Skyler was born with no eyes and his eyelids are fused shut, he has a very small penis and testicals and we do not know if he can hear, he has had an ultrasound done on his kidneys at my request and he has two and they are working good as far as we know right now. If anyone knows about any thing else that needs to be checked out please let me know, thanks Skyler's grandma Carolyn

[dreamer81]

Hi Mandi! My daughter's name is also Madilyn, spelled the same way! You are the first I've seen who spells it that way too! My daughter has bilateral anophthalmia and is now two years old. She has been using expanders since she was born. At first they used a hard plastic but now they use a softer, flexible ball that is shaped especially for her orbit. It is rigid, hopefully to increase stimulation. At the ICAN conference I learned of the new hydragel surgery. It seems like something my daughter may be a candidate for. I hope all is well with you and your family!
Sincerley, Hillary