DD6 just diagnosed with Albrights

[3princesses+aprince]

My dd6 was just diagnosed with Albrights disease. It affects the bones, she is very tiny, looks like your average 3-4 yr old. She just went through testing she is also growth hormone deficient and her dr. wants her to take growth hormone.
She also has hypothyroidism, which of course we knew about since birth because they do the testing in the hospital. she's been on medication for that since birth.
Her dr. told me they didn't think of Albrights because it's so rare. But she had all the symptoms( don't know why it took so long to put it together)
She was only 4pds 15 ounces at birth(full term)
she has pretty bad teeth problems
developmental delays
stubby hands and feet
WHich are all associated with albrights. So isnt' her hypothryroidism, that almost always goes along with it.
They want to start her on Growth hormone, and calcium .
They don't even have doctors for that around here the closest one to me is in Baltimore Maryland, they are going to pay for my family to fly down and see there doctors.
Sorry about the long story just wish I could find out as much as I can and wondering if anyone out there has this or knows someone who does. Thanks

 

[walkena]

Sorry that I cannot provide any information. As a mum of a child with special needs I can appreciate how stressful the time awaiting diagnosis can be. Sending good vibes your way

Just one little piece of advice - make a list of all of the questions you might have and be sure to take this with you to the doctor. Also, take paper and pen to take notes while talking to the doctor. It is easy to forget to ask about something (or to recall what the doctor said) while in the midst of an appointment.