[bradybunch6x1]

#1019284

ok here we go. Ava has had alot of complications from her Neonatal Graves disease. Here is the thing. There doesn’t seem to be really any doctors that can tell me just what I should be looking for. I know about all the complications that are listed on the thyroid manager site, but for other things, I have had to do some searching. Now I don’t know who is suppost to keep up with these types of things since Ava really doesn’t have Graves antibodies anymore, who is going to want to see her? I am so confused on that part. The other thing I have come across is that Neonatal Graves isn’t really listed as a disease on it’s own. It’s always something mentioned in passing. I know it is rare, but it is a disease and even the NIH and NORD don’t really list it as a rare disease….It has it’s own set of complications, and different types of treatments for this, so why isn’t listed by itself. How are our doctors suppost to find anything about it?
Anyway enough of the rant.
Valarie

[Jake_George]

#1070569

You need her to see a pediatric endocrinologist that specializes in thyroid disease. They are a rare bunch but they are the best trained to diagnose, treat and follow up on your daughter. Depending on how large a city you live in there may be zero to a few to choose from.

[bradybunch6x1]

#1070570

I live in a small town, and I live in NM, which at this point has come to disappoint me when it comes to finding specialists I know that our doctor in Idaho was a thyroid specialist, but we didn’t get to see him but once right after the girls came home. I’m wondering how I can find a doc for her that is a thyroid specialist. Does anyone know of a group that they would be in? Other than Peds Endo. Man what a mess. Ava’s primary said not to see the Peds Endo here, as all of her thyroid levels, and growth hormones, and cortizol levels came back normal. This stinks.
Valarie

[Ski]

#1070571

The possibility exists that this isn’t related to her Graves’ Disease too, so if you can, get someone to explore with you until it is figured out and solved. There was a heartbreaking story on the news last night of a local boy who had confusing symptoms ~ his mother actually had specialists look her in the eye and say "we may never know what’s causing this, so get used to him being in a wheelchair and losing ability every day." She did her own research, came up with something that was likely, found a doctor who would "go with it" and try the medication proven to help that condition, and her son is now able to get up and play basketball with his friends. Pretty horrifying how quick multiple doctors were to let them go on with a shoulder shrug "can’t figure it out, too bad for you." I thought that was their job!? Anyway, off the soapbox for me…. I’m just saying that if you continue to get those kind of comments from the doctors who are "caring" for her now, then no matter the distance or expense, you need to find a doctor who will work with you to figure this all out, even when it gets complicated. You all need relief.

[nmasay]

#1070572

You could always come to primary childrens hospital in Salt Lake. I know it’s probably a long drive, but I know of lots of people that come from afar for medical attention. You could also look in Arizona or Las Vegas. One of my nursing school prof. works in the endo clinic at Primarys would you like me to see of anyone in your area he might know about?

[bradybunch6x1]

#1070573

We have actually been to see several doctors there in Salt Lake in the passed when the twins were born, although, it didn’t help much.. I had a really bad experience with one there. He was a myofacial plastic surgeon, and was suppost to take care of Ava’s Cranio, and did a CT and told me this"Well she has water on her brain, but it could be normal for her". Turned out I got a second opionion and it wasn’t normal at all. Now she has a VP shunt in her brain.
We have explored things with the Genetics doctors, them wanting to rule out all types of Genetic syndromes, and what we have come to find is that they to are stumped(we have seen one here in NM, and one in Idaho). We have done extensive testing and everything has come back as normal. They have even had Ava’s medical things sent to Cedars-Sinai Medical Center, where the displasia registray is to rule out a type of dwarfism, and it came back, as these doctors don’t know. They had us do a full body x-ray, and that came back with advanced bone age. Other than that they say it is a normal x-ray.
I am starting to think since neonatal Graves is so rare, they haven’t done enough testing to rule out alot of these symtoms. I have found research that has linked each and everything Ava has to Graves. From the Cranio to the hip, to the advanced bone age, as well, as the developmental problems, the only thing that seems to be left out is the short stature. But I have spoken to a few other moms that have babies with this, and they to seem to have small children. I don’t see enough doctors that are Peds Endos, that have much background in the US for thyroid. Our doctor in Idaho did(although he was actually from OR). He helped establish the guidelines for lazy thyroid in premature infants. So I don’t know.
It seems every were we have turned has got no answers.
Valarie

[bradybunch6x1]

#1070574

I think I am getting a bit frustrated with the doctors, Kinda like they all say, hmm well it has to be something else, but no one can give me an answers, so they just give up. There just isn’t enough research into this disease. I actually have thought about having Ava’s doctor send in a referal to the NIH undignoised program. The problem with that is that they want people that don’t have a dignoises, and we had one when she was first born of Neonatal Graves disease, and now all these other doctors are saying they don’t know what she has. I know they do research up there for rare diseases, so they could possiable give me the answers I am seeking, but they may not even take her, as there is only a few alotted slots for people each year.
I wanted to include this as I thought it might help you see where I am coming from when I say that the doctors don’t know. This is the letter that I was sent from our Genetics doctor that was sent from the displasia registry. It will help you understand my frustration.
The first one came in and said Based on the information that we received our preliminary diagnosis is that this is an unclassified syndrome. We hope to finalize this case during the next few weeks. So that wasn’t the final letter, this one is.
Enclosed is the radiographic report on Ava. As you can see from the enclosed radiographic report, the radiology does not give us a clue to a specific diagnosis in this case. It is possiable that this could represent some unusual form of craniosynostosis syndrome.(I am leaving out the parts of the letter that are not pertant)In looking up some of the clinical symptomatology in association, which are weak clinical signs, I doubt that this represents rubella syndrome, although one can see hyperthyroidism and thyroid disfunction at least, with craniosynostosis in that entity. There is an article I would refer you to by Salerno in the American Journal of Medical Genetics, volume 120A, page 389, in 2003, of a multiple congential anomaly syndrome that has some of these fetures. Perhaps a good dysmorphologist might be able to help you, although some of the dysmorphology obviously is due to the craniosysnostosis and hydrocephalus that has occurred.
Here is the kicker, the doctor we see here in NM is a Genetics dysmorphologist, and he is stumped.
Can anyone else here see that they are looking at the Graves, and then dismissing it.
Valarie

[Ski]

#1070575

It’s a special kind of torture, not being able to just get on with the treatment, isn’t it? I am SO sorry this is your path. Hopefully you’ll blaze a trail for all those coming afterward. It does look like they say "here’s what it is," but "I don’t know what it is." If you had a doctor who was helping you, even if it’s far away, perhaps you can figure out some "virtual" way to have your daughter continually evaluated and treated by that doctor ~ have tests done locally and transmitted to that long-distance doctor, do consultations over the phone (or Skype, even) and have them prescribe back to pharmacies local to you? I wish we could do more to help!

[bradybunch6x1]

#1070576

Thanks Ski,
You have been very nice to respond to my post. It is like a special kind of torture. I don’t know if I ever mentioned that my doctors that treated me during my pregnacy were planning on writing up medical papers on my pregnancy. I can’t wait to read them. I hope that they do, as they said they would. Otherwise they did alot of free Ultra Sounds for nothing….hee hee. It would sure be nice to blaze a path, instead of sitting around wonding if I will ever help anyone in my place. Anyway thanks again,
Valarie

[Author]

Posts