Ava and Ella and doctors

Well our daughter (faternal twins)were born 17 months ago, they were born with a really rare disease called Neonatal Graves disease. This disease had done alot to one of the twins, her name is Ava. She has developed Craniosynostosis(premature closer of the skull bones). It wasn't just one bone but multiple. She also developed hydrocephalus(which is water on the brain). She has had two brain surgeries, and we are awaiting the next one, which will be within the next few months. She has what is called a VP shunt in her brain, that drains the water away from her brain, and into her belly area.
The Neonatal Graves is an autoimmune disease that affects the thyroid, causing it to work over time. This disease passes usually when it is passed due to antibodies the mother passed in there blood stream. So once the antibodies pass, the thyroid becomes normal again. The problem with that is that while a fetus, it can affect alot of things. Leaving you with what I would call complications from the disease. The doctors all seem to think that Ava's problems are from some kind of Genetic syndrome, but, after alot of research into Neonatal Graves, and letting them do all kinds of tests on Ava(which all came back NORMAL).I have learned that the problems Ava has is related to Neonatal Graves disease. Because there isn't alot known about this disease by doctors because it is so rare no one can really tell me what to do, or who to see. The doctors in my area of the country don't have the knowleadge to say yep it's Graves disease that caused this.
There was a book I ran across that our old Peds Endo helped write a part of pertaining to Neonatal Graves, and I found all the information right there. I told Ava's Pediatricain about it, and told him no more Genetics tests, and no more looking for an answer that has been staring these doctors right in the face since before she was born.
He agreed. Most people look, and look, and look for an answer to a medical problem for there children, when the doctors don't know what it is, but when the doctors actually take it to the point of over looking what is right there in there face, what do you call that?
It's the only dignoises that we have ever had, and every single condition that Ava has can be related to this disease, yet they want to say it's a Genetic syndrome!
Then we have Ella, oh what a wonderful girl. She has only suffered a bit from this disease as far as we can see, she has really large eyes, and is delayed in speech, and is small for her age, but she is growing.
It seems that short stature is related to Graves in the Neonatal Period as well. Although it wasn't stated like that. It was called Growth Retardation. I know one means one thing and the other means something else, but really it all has boiled down to the fact that both Ava and Ella are small, and may always be small. We had to have Ava's growth hormones checked, and she was also checked for all types of dwarfism, to come to the conclusion that well Ava is NORMAL again, we even had a full body x-ray to show yet again, that everything was normal except it showed advanced bone age. Go figure, that to has been known to be related to Graves.
We moved to a new area 6 months ago which has actually caused us a bit of a problem. Finding doctors for Ava and Ella hasn't been as easy as it should be. We don't have a Peds Nuerosurgeon here, and so we have to travel back to were we lived which is Idaho(12 hour drive)to see the doctors for Ava's brain. I tried seeing doctors here in our area, only to find that they weren't very compatant. The closest ones from here would only shortin the drive by 4 hours, and that might not be worth it really. We already have doctors that know about Ava, and done surgery on Ava twice, and are still willing to treat her, so why go to someone who doesn't know her, may not do the treatment, and waste more time.
I actually had a NS tell me once he thought I should get Ava a MRI(which her shunt is magnetic)and that he would see her in a year. I was like hello this may not be rocket science, but we are talking about a possiable brain surgery one day, and you don't know that you can't do an MRI without adjusting her shunt! I never went back. He had a great history about what he had done, and for who, and how long, but that doesn't mean flip if the doctors are so careless about simple things like that.
Another story about a doctor Ava saw. A plastic surgeon, that was consulting with a NS. The PS says well "Ava may have water on the brain, but it could be normal for her."He consulted with the NS right there in the room with me, they never said anything to me, and then said we need to get her an MRI. Come back in a month and get one. No explanation of what water on the brain could be, or anything. Turned out it wasn't normal for her, the MRI wasn't done there in a month, and they didn't do a brain surgery like they wanted to in a month. The surgery was done somewhere else by someone else, because of the noncommunication with our other doctors, and the fact that they wouldn't really tell me what was going on. I would ask questions to get no replys. I have learned that I am my own child advocate, and that I don't have to settle for minimal answers to important questions. If you want to see an MRI or CT the doctors should be willing to show you them. If you have tests done, the doctors should be willing to discuss what they have found, and show you them too. If you go in with a list of questions, the doctors should answer them before you leave, and they need to actively listen to you. They need to know that you know you and your child better than anyone else, and if you say there is something wrong, you can bet you butt there is.
I told our doctors for 3 months Ava's soft spot was closed, only to hear she was to little for them to do anything about it. NOT TRUE. There were alot of options, that doctor just wasn't informed like the specialist were.
I have also learned that learning about your own disease, is the best way to understand what you need to know. So teach yourself, learn, read. A perfect example of this was when I was pregnant. I had a child who was born with Neonatal Graves disease several years earlier, and that is what caused me to learn about the disease I had(which is Graves)and the disease she had which was Neonatal Graves. She was born a month premature, and we didn't know for 14 days what was wrong with her. After all that research, and reading, I became pregnant again, and refused to let the doctors tell me, well you have a 99% chance that you will NEVER have another child with this disease. I knew my body better than them, and knew my disease was still very active. So I made the doctors consult with a thyroid specialist, to be told the same thing by her, but she also told the doctors what tests to run. The tests got ran, and Ultra sounds were done, to prove at 18 weeks gestation that both of our fateranl twins had Neonatal Graves disease. Let me say this this disease is rare for a woman to pass on to an infant, exspecially when they have had there thyroid ablated(killed), which I have. Then it is rare to have faternal twins that both have it, like only 5% of twins born to mothers with this disease both have it. Then you take into the fact that Graves disease is considered a rare disease in the first place, and you have us. Were not abnormal, were RARE! hee hee.
Anyway more some other time.
Valarie