Genetics wait time

[Anonymous]

I'm the mom who recently started a thread about my infant's mild hearing loss. We saw Dr. Milmoe (ENT) at Georgetown and he felt that besides working with the audiologist for a hearing aid fitting, genetic testing was the next logical step for now. He mentioned testing for a connexin mutation in particular since that's one of the most common genetic causes for hearing loss and can pop up even with no known family history due to its inheritance pattern.

I called the departments at Children's and INOVA Fairfax (both recommended by our ped) and neither had appointments before February. Is this standard for genetic testing? It seems like such a long time to wait for any answers. Surely people whose infants are showing multiple/more worrisome symptoms are able to get testing done more quickly? I certainly hope so for those parents' sake.

Some of the other avenues we could explore in trying to find out a cause (e.g. internal ear/brain imaging) not worth the risk to a young baby according to Dr. Milmoe so those would have to wait even longer. Is there any way to get in for genetic testing any sooner? I don't want to imply that my kid is special and shouldn't have to wait when everyone else does -- just wondering if I'm unaware of another avenue we could explore to get an answer on the connexin question a bit sooner than 6 months from now. If it turns out to be that, it saves us a lot of worry and tests with other specialists because it causes nonsyndromic hearing loss with no other problems.

Since connexin mutations are passed down, would it make sense for DH and/or I to get referrals from our GP for testing and see if we can get that done sooner? I definitely see the benefit in seeing a pediatric geneticist who can suggest other conditions that we could test the baby for in a single blood draw. But I'm wondering if we as the parents could just get tested for connexin sooner to at least rule that in or out. DH did the "Jewish panel" testing at a LabCorp back when we were pregnant with our first, which was ordered by my OB. I wasn't sure if other specific genetic tests for adults could be done this way.

Thanks for any info anyone might have. I realize that we might not figure out a cause for a long time (if ever) but congenital hearing loss is linked to some scary syndromes and it's hard to think about waiting many months before getting any info on whether or not this might be the case for our baby.

[Anonymous]

Get your name on the waitlists just in case. Our developmental ped ordered genetic testing for us so your ped or a developmental ped or someone else may be able to order it depending on your insurance.

[Anonymous]

Try Kennedy Krieger as well.

[Anonymous]

Yes that's the standard wait. But cancellations do happen and you can sometimes get in earlier. Call every couple of weeks.

[Anonymous]

You can also check for studies being done at NIH for genetics or hearing loss. I got in there on a cancellation and got genetic testing done quickly and fro free.

[Anonymous]

That is pretty standard wait time. (Do get on the cancellation list though.) I don't think you will get insurance coverage for testing for you if you don't have a positive test on a child yet. Unfortunately it is a long haul with specialists - there are often long wait times like this. Its a more a marathon than a sprint.

[Anonymous]

OP here with an update in case it ends up being helpful to someone else searching genetics threads. When I called trying to get an appointment at Children's, they had me leave a voicemail with one of the genetic counselors explaining the situation as they thought a counselor might be able to help us get an appointment sooner. I never heard back so had given up on the possibility. But yesterday I got a call from a different counselor and they are getting us in at INOVA Fairfax next week. I guess there's a partnership of some sort between Children's and INOVA where certain counselors and doctors spend some time at Fairfax too. I'm a bit confused but happy we got an appointment so quickly. So if you need to make a genetics appointment I guess ask if you can leave a voicemail with a genetic counselor!