[Lauriefoot]

Megn had her appoinmnet with the genetists on Thursday. This is what they know for sure. Megan tested postive for eith prader-willie or Angelman symdromes. they took more blood from her to dtermine which syndrome. they need to figure out it it was the patenal or maternal chromosme. if its the patenral, it prader-willie and if it the maternal chromosme its angelmans. but after examing her and talking with us about her symptoms the doctor is 99% sure that it is anglemans syndrome. my sweet baby is only 11 months old and get a dignoses like this, but its good that it is on the really early side. shye doesmn't prsent with the symtopms of prader willie, except the delay. needless to say we are devasted right now.

[QueenAngie]

So sorry that your little Megan has one syndrome or the other one.

Wish I could wave a magic wand and make it all better.

One of my friend's granddaughters was a 1 lb premie. At age 4, she has done amazingly well....except for a problem w/ her head shunt. This last episode has now caused a problem for her optic nerve, and she is now legally blind. I am amazed by the little girl's mom. Both parents allowed themselves a 24* pitty party. Lots of crying, tears, and prayers. Then, they both are fast speeded into action.
1st they got a 2nd opinion from a specialist.

What does she need for therapy this next month?

Where will she go to school?

Can she begin school early?

What medications will she need?

The entire family is learning braille.

They are moving 30 miles away so this little girl can begin early going to a school for sight impaired children. She could be a weekly school child (living at school), but they want to keep her at home and only go to school during school hours.
They are both transferring their jobs, moving, buying a new home.

I use this example of a parent taking the best course of action for early intervention.
You have allready gone through the medical process to obtain a diagnosis.
This is excellent that you were so persistent as to pursue this early on.

Now what do you need to do next for early intervention?

(((Hugs)))

[Lauriefoot]

well I have already called our sated agency that handles Megan type of problems. they will call back in a fews days to set up an evaluttion and start PT, OT and not sure when they begin speech thearpy as she is almost a year old. also I am going to look into learning sign launguage to help us commuciate with her, and of ocured follow up with PT and OT with our HMO and her nerologist and her reugalr doctor and the hearing test. and most of all love her and supoort her.

[LilMomma]

Make sure that her doctor is absolutely positive if he says it is Angelmans' because Angelmans and Rett syndrome are very similar and are often misdiagnosed as one or the other.

[Lauriefoot]

oh she either has prader willie or anglemans, they found the deletion on chromsome 15. I will look how retts is dignosed though, thanks

[Michelespreemies]

My Carlee was premature and was dx'd with seizure disorder, DD, and a list of other things too. She is currently almost 4 and doing great!! I know the devestating feeling. I know that you and your family will overcome and prevail!!

Being a mother to 2 spacial needs children ane 2 more medical needy children.. I get asked how I do it... When you have a special needs child is when you will understand why and how I do it... That is what i say. They are gifts sent from above and I wouldn't want it anyother way...

Good luck with your journey!!! You have all the support you can get here....