Diane and Emily checking in

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Registered: 03-26-2003
Diane and Emily checking in
Thu, 03-27-2003 - 2:41pm
Hi! Emily is our third daughter. She will be 9 yo this July. Emily has two older sisters Katie~16 and Heather~13 and a WONDERFUL daddy John. We live in a western suburbs of Chicago. Emily started having problems when she was about 8 months old. She stopped meeting her mile stones. We started full force with doctors when she was about 10 months old. Along the way, we found a lot of symptoms (senosory-neural hearing loss, cataracts (she lost one eye to a post-op infection caused from gross medical negligence), epilepsy, bone problems, delayed myelin in her brain, motor delays, cognitive delays......) but it wasn't until Sept 11, 2001 that we knew that she tested possitive for a rare genetic disease. Because of what was going on in the world at the time, we had to wait several days for her geneticist to get back from a seminar in California to find out what disease it was. We later found out that Emily tested possitive for Alpha Mannosidosis. Because it is so rare (approx 100 people in the entire world) the staff at U of Chicago wasn't comfortable telling us the diagnosis until the doctor was back and had time to research it. We are still in the learning/grieving processes. We know that Emily is still our beautiful little girl. Now, we just have a name for what is causing all of her problems. Besides her medical issues, we devote a lot of time fighting the school district to give her the services that she needs. For us, it was a long road to get to this point (5 geneticists, 4 ped neuros, 2 ENT, 2 Ped Ophthlamologists, 2 Ped Ortho, 3MRI, MRS, CT, Ultrasounds, X-rays of every bone in her body and some more often than others, chromosome testing, skin biopsies, fibroblast of the skin and more blood and urine than I care to remember) but we're dealing with it. Emily has been in private PT, OT and ST since she was 1. She is getting some at school as well and we're fighting for more. I'm sure that there something that I forgot but that's pretty much the basics.

I have to say that this board is a life saver. I may not say it often but you guys are the BEST!

HUGS!

Diane and Emily

Diane~ mom to Emily 13yo (Alpha Mannosidosis)

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