Genetic evaluations

[Mommee]

DD (3) had a genetic evaluation almost two weeks ago (which, btw, took 8 months from scheduling to appointment). The geneticist said he was pretty sure he knew what was going on, but didn't want to tell us because we might go off half-cocked researching something that she might not have. The only test he ordered was a hearing test, which she had a week ago.
We were told he would be doing some research and write up a report with recommendations on where to go from here, but he didn't say how long this would take.

Does anyone have any experience with this? I'm concerned that we won't hear from him for months, and I'd really like to know what's going on.

 

[Magpie]

DD (3) had a genetic evaluation almost two weeks ago (which, btw, took 8 months from scheduling to appointment). The geneticist said he was pretty sure he knew what was going on, but didn't want to tell us because we might go off half-cocked researching something that she might not have. The only test he ordered was a hearing test, which she had a week ago.
We were told he would be doing some research and write up a report with recommendations on where to go from here, but he didn't say how long this would take.

Does anyone have any experience with this? I'm concerned that we won't hear from him for months, and I'd really like to know what's going on.

Wow - he sounds pretty arrogant!

I think you'd be well within your rights to ask for a firm date for when his report will be ready.

Me, I'd be going nuts. I hate it when someone knows something important and won't tell me because they think they know better.

 

[Mommee]

Maybe I'll have to call. Unfortunately they have an answering system so I'll likely be just leaving a message-they've never actually answered the phone there before.

I half-suspect he thinks she has Down syndrome and thinks we'll flip. In truth we've been wondering since she was born so really I'd just like an answer

 

[Magpie]

Maybe I'll have to call. Unfortunately they have an answering system so I'll likely be just leaving a message-they've never actually answered the phone there before.

I half-suspect he thinks she has Down syndrome and thinks we'll flip. In truth we've been wondering since she was born so really I'd just like an answer

Could you just ask him up front? ie, "Is there a chance she has Down Syndrome?"

Sheesh... personally I'd be almost relieved to know it was Down Syndrome. There are lots of resources out there for kids with Downs. A friend of mine has a child with a unique syndrome. She's literally a mutant, and the downside to that is that no one really knows what her prognosis will be long term or what to watch out for health-wise. There's just so many unknowns about her. Not knowing is what drives people crazy.

 

[Mommee]

Unfortunately, I had just had surgery so DH took her to the appointment. He never thought to ask. The school brushed us off last year after the pediatrician referred her for early intervention-said her speech was fine (yet it was the first thing the doctor noticed-at least a year delay..she's almost 4 and I still interpret most of what she says for DH) and the PT that said she needed services was completely absent from the official report that said she didn't qualify for anything.

So, yes. It would be a relief. I want to be able to help her.

 

[bumbershoot]

The geneticist said he was pretty sure he knew what was going on, but didn't want to tell us because we might go off half-cocked researching something that she might not have.

That would be one fired geneticist if he said that to me.

 

[daughtersrus]

DD (3) had a genetic evaluation almost two weeks ago (which, btw, took 8 months from scheduling to appointment). The geneticist said he was pretty sure he knew what was going on, but didn't want to tell us because we might go off half-cocked researching something that she might not have. The only test he ordered was a hearing test, which she had a week ago.
We were told he would be doing some research and write up a report with recommendations on where to go from here, but he didn't say how long this would take.

Does anyone have any experience with this? I'm concerned that we won't hear from him for months, and I'd really like to know what's going on.

My DD went through genetic testing for about 7 years. I've lost count but I believe that she saw over 5 geneticists. Each one of them did their own eval and ordered the tests that they thought were necessary.

Depending on how long the test results took for them to get, determined how long it took to get the report.

Besides the hearing test (was it an ABR or sound field?) did they recommend any other tests?

For us, before we took her to the last doctor we sent all of the previous reports and results. He looked them over before we got there. Once there, he told us that he thought that he knew what she had but we would need to do one more test. It was a simple blood test so we agreed. In the past she had some pretty invasive tests including skin biopsy, fibroblast... and we didn't want to put her through anymore of that.

He told us that the blood was being sent to Phili so it would take at least a month to get back. Sometimes labs hold samples waiting for enough from other patients before running the test.

To our surprise, we got a bill in the mail less than a week later from the lab in Phili. I tried calling the doctor but he was out of town. I then called the lab and they confirmed the test was completed but wouldn't give us the results. We had to get them from the doctor.

We were finally able to reach someone at the office but they would not tell us what was found. They said that the doctor had to give us the results and he was at a medical conference in CA. The problem was, this was early in the morning on Sept 11 and we all know what happened later.

Once the office realized that all planes were grounded, they agreed to have a genetic counselor call us. She said that it's against protocol but she would give us the name of the disease but didn't want us looking it up on the internet.

Of course that was the first thing that I did. After reading what was there, I now understand why they didn't want to give the diagnosis over the phone. The disease was newly discovered in humans so there were only 5 links in google. All of them said that patients don't live past 5yo and I knew that our DD was older than that.

It took many days before he could get back and we could get an appointment. In the meantime, he called and spoke to us about research that he was trying to do before the appointment. He put us in touch with a parent group that was trying to find anyone that would research the disease.

On one hand I understand why they don't give a diagnosis over the phone but as a parent, I wanted to know what they found. It had been a long 7 year process and I just needed to know.

I'm happy to say that our DD is now 16 years old but sad to say that there is very little research being done on this disease (they refer to them as orphan diseases because they don't get any funding) so there is no treatment.


Did they at least give you the results of the hearing test? Our DD has bilateral sensory-neural hearing loss and wears aids in both ears.

I would call and leave message after message until someone calls you back. In dealing with so many geneticists, I came to the conclusion that they are very smart but most of the ones that we dealt with lacked people skills.

Best wishes!

 

[minkydog]

We went through this with Christian 15 yrs ago. In fact, we went to more than one geneticist. When the first one did over 200 tests and couldn't figure it out he recommended the other guy. Both doctors are highly regarded. I was impressed that the first one was honest enough to refer us instead of just giving up. Once we saw the second doctor he did an extensive interview, put forth a few potential diagnoses, then did the *one* test that would tell the tale. I have to tell you, I DID go off half-cocked--none of the potentials were good. I think your doctor is doing you a favor by NOT offering ideas. Do you really need all that worry about things that may or may not even happen? All I can tell you is my experience, but it just about put me to bed I was so upset. Believe me, once you know what you're dealing with you'll have plenty of time to grieve and to plan for the future. It took about 14 days to get the results, 14 looooooonnng, terrifying days. But in the end we had our diagnosis--a very rare, very serious chromosomal syndrome that doesn't show up on blood tests.

If I could have done anything differently it would NOT researching the possibilities. It was a total time and energy waster and in the end, really didn't help me much. Once we had the proper diagnosis, THEN I knew which direction to go and even though I was upset, it wasn't nearly as bad as anticipating all the terrible things I was reading about.

Best of luck to you. I hope you get a diagnosis soon.

 

[Mommee]

Unfortunately I think there was a mix-up on the hearing...she was supposed to get a full hearing test but the audiologist wanted to just do a screening because dd was still 3. I tried to tell her, but she cut me off. When I told her to send it to the geneticist, she started backpedaling and told me to bring her back in a year. There's progressive hearing loss in the family, which means a newborn screen doesn't mean squat. So all we know is that dd can hear some, but that's it It was banging monkeys from Toy Story 3 with wind-type noises and lasted all of about 30 seconds.

She's already had eye surgery and been under the care of a pediatric opthalmologist, and he had those records in their in-house system, as well as all her pediatric records. Nothing else was requested, and I'm not sure why. I don't know if that's because he doesn't want to test yet, because he doesn't need to test, or that's just not something that's not done at the first appointment. So, that being, he's not waiting on any tests.

And I don't think I can fire the geneticist with that kind of backlog

He did rule out two possibilities-the first was Waardenburg syndrome-which I actually first heard about on the DIS after asking about other DD's multi-colored eye. The other was my little genetic issue called Ehlers-Danlos. If she does have it, it's mild and not the cause of her issues.

Minky, I understand what you're saying, but if it is Downs then I wish he'd just told us. DD's features are too specific to not suspect it, so of course I've looked into it. Heck, my extended family has secretly wondered behind my back but not wanted to mention it. On the other hand, he could be thinking of something completely different and never thought to say it wasn't this.

 

[alizesmom]

There is always the possibility that all tests will be "normal" and you'll be told you have to wait for better tests to be developed. That's where we're at. Karen

 

[DWCricket]

If I could have done anything differently it would NOT researching the possibilities. It was a total time and energy waster and in the end, really didn't help me much. Once we had the proper diagnosis, THEN I knew which direction to go and even though I was upset, it wasn't nearly as bad as anticipating all the terrible things I was reading about.

Best of luck to you. I hope you get a diagnosis soon.

I would agree with this and I usually am the type of person to say get your results, they are yours. Have you had chromosomal analysis, where they have looked at gross chromosomal abnormalities? If so, it is very easy to determine if Downs, unless there is a mosaic presentation where the trisomy is only showing up in some cells. However, if that was the case a doctor should 1) tell you that the test was inconclusive and 2) say what the next step is.

If they ran a microarry assay- then they probably where not looking at Downs, but many other things that have small mutations/changes.

Have you talked with a genetic counselor? I would highly recommend that you do that. A genetic counselor will help you with 1) what the potential could be and 2) the steps that you will go through.

Honestly, all doctors should be telling you what things are in the differential diagnosis (what it could be) and how each will be determined and/or eliminated. The patient (or guardian) should have full knowledge as to why tests are being done and what various outcomes could me. I'm not surprised that it took 8 months to get it. I am surprised that he did not discuss things with you and that you did not meet with a Genetic Counselor as well.

I hope you can get some answers soon- genetic syndromes can be very hard to diagnosis and some you may not have a confirmation based on finding a genetic mutation as the causative mutations may not be found yet.

 

[Mommee]

DW, that's where I'm confused. Nothing like that was run at this appointment. Perhaps that comes after he's decided what direction he's thinking?

I don't even know where I find a genetic counselor. DD will have her 4-yr. checkup soon; I think the pediatrician is going to have to help me out here. I think part of the problem is that my own issues are rather rare, and the specialists are so fascinated by me I was hoping DH taking DD in would work out a bit better, but he was just peppered with a ton of questions about me (more than just background stuff asked about everyone) and asked for me to please come in with her next time so he can see me do my "party tricks".

 

[DWCricket]

where in Mich are you located?

An excellent resource is the National Society of Genetic Counselors website (http://www.nsgc.org/). You can go there to search for a GC in your area and in a specific area. You might want to look for a pediatric counselor.

Family history is a big deal with genetics, so I'm not surprised that they asked a lot of questions if you have a rare syndrome too, however, it should have been done with a lot more grace and tact then it seems like.