geneticist REFUSES to help us!

[hdirks]

Ok we live in Des Moines and none of the doctors here could help us piece together why my daughter has so many different things wrong with her. I posted a few days ago about nobody knowing whats wrong with her. She is deaf, has undiagnosable eye issues, abnormalities in her brain, and extreme developmental delays. We saw multiple specialists here in Des Moines and eventually got referred to Children's Hospital in Iowa City. We saw mulitple opthamologists and neurologists there who were not anymore help than what we have had here. So we got put on a waiting list for FIVE months to see the genticist. We finally got an appointment and they promised they would have the results in 6 weeks and we would hear from them then. Well 6 weeks came and went so I called and the nurse told me "No, we don't have ANY of the results back we will call YOU when we do" Ok fine. So here it is ELEVEN weeks after the testing and we went back to Children's Hospital for CI evaluation. The doctor there went over her history and tests and mentioned that the gentic tests came back normal so thats great she's definitely a candidate for CI. (WHAT? they have the results back and couldn't even call us?) So today I get a call from the gentics department today saying "so I hear you spoke to the CI team" (Well yes we did we had appointments there all day and at least THEY are willing to tell us things pertanent to my daughter!) Anyways, the geneticst says well things came back normal. She does not carry the deaf gene so it is definitely not gentic, and her chromosomal test all came back normal so she does not have any chromosomal syndromes or defects. Her MRI looks fine. We will just want you to come back in a year and if she still is developmentally behind MAYBE we will think about doing another MRI. I asked them, so you won't do ANY other test or anything to see whats causing all of her symptoms? She said, No, there's nothing we can think of. We'll see you back in a year. END OF CALL!ARE YOU KIDDING ME???? Does she REALLY expect me to just sit here and do nothing for a YEAR?!?! They refuse to even TRY and work with us. Ok, so they don't know what's causing it so they just give up? SOOO FRUSTRATING! We waited SO long to finally get someone that DOES THIS FOR A LIVING AND IS SUPPOSED TO HELP DIAGNOSE PEOPLE. and they just give up. So now I have to go through the process and try to get an appointment at Mayo. and play the waiting game.....again. These people are supposed to be professionals and help people not just give up when things aren't perfectly clear for them. Sorry had to vent. It's just getting rediculous! they all want my copays and to send us to their "friend" specialist so they get some of our money too but noone can help. FRUSTRATING!

[~cassie~]

How frusturating!

We have our consult with the geneticist in May and I'm worried they will blow us off.

Did they test your daughter for Ushers syndrome? I know it can cause eye disease and deafness, we are planning to have our child tested for it as it seems he has some eye issues, but not quite along with what Usher's is.

[2boyzmama]

It is SO frustrating when the answers don't come easily!!

I wanted to say, though, that it doesn't sound like they are "refusing" to help you, only that they have checked her chromosomes and done an MRI, and for now they're not sure what else to test for. Waiting a year not only might give them a better picture of her, but also might give time for the medical community to "catch up" and some new syndromes or tests might be known.

It took us 3 visits to genetics before they found my son's deletion, and his is actually pretty common. So it often takes longer for the unusual or rare syndromes to get diagnosed, which is frustrating for everyone involved!

In our case, the first visit the geneticist didn't know what was wrong, but did a chromosomal analysis. It was normal. He said "come back in a year if there's still delays". Fast forward 3 months, we had been to more specialists and had more diagnoses. One of the specialists suggested I go back to genetics since we had more information. The geneticist was kind of rude to me and said "I told you to come back in a year". He looked over Connor's records, said "I still don't know" and sent us on our way again. Fast forward another several months. I had researched and researched over and over for hours upon hours and stumbled across 22q deletion and it seemed to fit Connor. I took him to see the Cleft Palate team and there was a geneticist on that team. I said "I think it's 22q." She said "I don't see it.." I said "Test him. It's my insurance, my copay, test him for 22q."

They did a microarray, and 4 weeks later it was positive for 22q. But really, he is atypical in several ways, and missing a few key symptoms, so I can see now how they missed it. I was really angry at the time, especially when I was completely brushed off at that second visit.

SO...I guess what I'm saying is I understand your frustration (boy do I!) but I don't think they're completely ignoring you. Keep on it, gather more information, research things yourself, and if anything pops up, take her back sooner. Or go somewhere else if you've lost confidence in this geneticist.