Genetics Appointment

[Ellinger Family]

So after a LONG wait (holy toledo, genetics is by far the worst doctors to get into see!) we finally have our genetics appointment on April 7th. I'm curious as to how the appointment will go and what the first appointment is like. We are seeing Dr. Viskochil about Nathan, not so much to know what our chances of having another baby with his problems are as interesting as that would be, but to be able to diagnose him with a syndrome that connects his jaw, cleft palate, ear issues, eye issues, tummy problems, terrible weight gain, and Tetralogy. We would like to know what to expect as he develops and what to look for as far as any other problems we may encounter. Really, we just want to give him the best possible care and that entails knowing what to expect in his future.

Has anyone else been to see Genetics? Could you pass along what happened and how things work in that department?

Thanks,

Stephanie (Nathan's Mom, TOF)

[AngelMom]

Good luck with the appointment and I hope you get some answers to the quesitons you are seeking. It could provide some interesting facts.

We never went through any genetic testing after Hope. Though we were told by the head MD at UVRMC Maternal Fetal Department while pregnant with Hope that if we were to have other children, we would have a 50/50 chance having them born with some type of heart defect. Since Scott and I didn't know of anyone in our ancestory line born with CHD's, other than Hope, we decided not to do genetic testing. For us it proved to be the right thing as both Nathan and Cole are 100% heart healthy.

As far as the Heterotaxy Syndrome issue too. . .We weren't even given a name to all of her issues while she was alive. It was only about 6 years ago that I discovered there was an actual name for all of her complex issues.

Good Luck!

[hfoster]

We had a genetics visit in October with a different doctor. Our daughter has TOF, and they wanted to follow up and see if she might have DiGeorge syndrome. Be prepared to answer a lot of questions about your family history. They will probably send you stuff in the mail so that you are prepared for the visit. They also like photographs of your child and other family members. They are very thorough. They have always sent a report of the visit to me in the mail. Even though the geneticist said that she looked perfectly normal, they want to do another visit this year, but he said that might be the last one we need. They are checking for any developmental delays that may show up as she gets older.

Good luck with your visit.

Helen Foster, mom to Mary '07 (TOF)

[acrathbun]

all of my children are followed by genetics. We saw Dr V that very first time. I remember (Megan was probably about a year old) that I noticed he put "MCA" on the diagnosis line...I asked him about it - he said that it stood for multiple congenital anomalies. And Megan doesn't have the jaw, palate, etc. issues that your child has. I say this just so that you are prepared. For some reason it was upsetting to me to see that.

We now see Dr Lewin (when she's there, she's had some family medical issues lately) or Dr Botto and like them both. They are both geneticists and also metabolic specialists.

The reason they see all of them is that they each have a unique birth defect/disease that at first seem totally unrelated. Their chromosomes are also totally normal. There are some specialized tests, one of them is called a microarray, if I'm remembering correctly. These can show very tiny genetic changes.

The first visit w/ genetics can be a little weird. They measure *everything.* It can seem a little intimidating. It's helpful if you have a detailed family medical history (yours & the baby's dad) and if you have any information about stillbirths or babies that died infancy.

I hope this helps some. We've seen genetics for around 8 years now...after a while it becomes routine.

[Alli and Kyle Hicken]

We have been wanting to meet with a genetic counselor for the same reason (since Grant is our first and his variety of issues ...HLHS, heterotaxy, right atrial isomerism, aspleenia, etc. are not necessarily all connected), but I am a little nervous to know what the price tag attached to such a thing really is... and if insurances typically cover it. Anyone have an estimate? I want the info, but I am not sure I want to get in over my head!

[acrathbun]

I don't know what insurance companies pay for genetics *counselors* I do know that they pay the genetics doctors pretty much the same way they pay the other specialists - at least that's how our insurance works.

The tests they order are another matter - ours has always been good about picking up the tab, but I have heard that other ins. companies can be picky about what they choose to cover.