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Hi! New here. 3 week old with rare genetic disorder

smellycat15smellycat15 member
in Special Needs

Hello all! I just found this board and wanted to introduce myself and my daughter. My daughter is Makenna and she has a very rare genetic disorder. So rare that there are only 22, now 23, known cases so finding information is rather hard. We got one article about it from the doctors but other than that there is nothing else out there about it.

Her condition is called MIDAS. I don't remember what it stands for. Basically she has genetic information missing from her 22nd chromosome. It caused her heart to have an irregular aortic valve (may require surgery in the future), her skin to have lesions on it at birth and for the sclera of her eyes to grow into the cornea, which most likely leads to blindness. It was a lot to take in when we first find out. At first, they just thought she had a heart defect and then she was born and we found the other problems and they diagnosed her with MIDAS. She was in the NICU for a week being monitored and she now has been home for a little over a week. She's still the cutest thing I've ever seen. She's an amazingly good baby. She never cries unless she's hungry. She just sleeps, eats and poops.

The only problem that is going to be interesting for us is the blindness. Neither one of us have really dealt with it so we are going to have to learn how to teach her things. We do know she is light sensitive and she does open her eyes and looks around. I think she can see a little bit. We go back to the opthalmologist Wednesday for an ultrasound of the eye and another exam. We won't really know the extent of her blindness until she can tell us what she can see. So right now we are taking it one day at a time. They also said there is a chance of developmental delays but she already raises her head and can sit her self up when being held. She tries very hard to crawl when we put her on her tummy. She's a strong little girl.

So I just wanted to see if anyone has any ideas on how to teach things to a blind child. I will try to find a local group but I was wondering if anyone here had any ideas or techniques. Thanks ladies!  (sorry so long)

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