Probably a long shot but experience with genetic testing?

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Joined: 12/11/02
Posts: 485
Probably a long shot but experience with genetic testing?

It's probably a long shot but I was wondering if anyone has had experience with genetic testing and chromosomal testing on their kiddos?

My son is 16 months old/13 months old adjusted. He has low tone and gets PT, OT, early intervention. He was seen in the NICU follow up clinic and the neonatologist feels his low tone should be improving. She feels he is way to flexible and after rereading his medical history, charts, etc. She feels like this testing would help maybe see if there is anything deeper going on.

So I was wondering if anyone has experience with it and that it came back being helpful.

Hope that makes sense and thanks much in advance.

Danifo's picture
Joined: 09/07/10
Posts: 1377

I used to work at a place that did genetic testing for things like this but I don't have experience from the parent's side.

There are a variety of genetic causes for low tone. Some are "common" and others are rare. It is most likely they would set up a cascade of tests (ie only do group B is group A is negative). Some have some medical treatments, some you are giving a name to a disease with no action plan different than what you are currently doing and some of the genetic causes lead to other health problems.

I know some parents do feel reassured when they find out what is wrong with their child. Somehow the certainty of a name helps even if there isn't much to do for it, it at least gives them something to focus on. I think it also helps reassure them that they aren't missing a magical cure, they are doing everything possible for their child, and some feel it was something they physically did that caused it so a genetic cause makes them feel better. Some also use the genetic information to make decisions about having future children.

In general, the genetic testing route is long. Each series of tests usually takes 4-12 weeks. There are newer methods than when I was doing the testing (3 years ago) where they can do larger panels of genes. There are usually 3 possibilities of results (1) definitely the cause (2) definitely no cause found and (3) genetic changes where they don't know what they do. I have tested some families over years because they still don't have an answer and their doctor keeps submitting them as new causes of a particular problem are identified.

Does your insurance cover it? Where I worked in Canada that wasn't an issue but when I worked at a place in the States it seemed like there was more hassle with the insurance companies wanting to cover it or spreading out the testing so the patient had to pay the deductible over 2 years. I would start the testing in January so you have the whole year to get that sorted out and work through the cascade of tests. If it were me, I would do it for the potential for more information with the expectation that I may not get definite results.

Good luck

CamelNoodle's picture
Joined: 07/28/04
Posts: 908

The only genetic testing we did was prenatal, with our son that had a birth defect. We also go to Amplatz, it was with the Maternal Fetal Medicine department. Ultimately it didn't end up helping much, because he was negative for all the things they tested and he was stillborn at 29 weeks. But it was good to know what he didn't have.

Spacers's picture
Joined: 12/29/03
Posts: 4100

Danifo offered a lot of advice. I haven't done anything for my kids, but my sister went through genetic testing as a child and also again as an adult. She nearly bled to death after a tonsillectomy when she was young, despite having been screened for the major known blood clotting disorders at admission, so they did some more extensive testing to find out what it was that she had going on. Then 20 years later when she was pregnant with her first child, her doctor said that they had discovered that the rare clotting disorder that she has, can be a marker for a different genetic condition that also affects the heart. And since pregnancy is a stressor for the heart anyway, he wanted her to be screened for that disorder. Thankfully she was negative for that one. Both of them were just a standard blood draw, and they also drew extra blood so they could run a second panel of tests if something was indicated in the first round.

Joined: 12/11/02
Posts: 485

Thank you all for your responses. We have an appointment next month and then an appointment in April with a genetics doctor in April (the earlier we could get in)

MissyJ's picture
Joined: 01/31/02
Posts: 3210

((((((HUGS))))))) Nicky -- glad you got the appts. You'll be in my thoughts and prayers for all to go well! Please do update as you're able!

~Missy

Joined: 12/11/02
Posts: 485

Thanks Missy and I will.

Joined: 12/11/02
Posts: 485

"MissyJ" wrote:

((((((HUGS))))))) Nicky -- glad you got the appts. You'll be in my thoughts and prayers for all to go well! Please do update as you're able!

~Missy

Well we lucked out I guess you could say and had our appointment yesterday. There was a lot of confusion as to what kind of tests they wanted to do and such. So we had a few appointments scheduled and then eventually they wanted to see us in APRIL.

Then last week I found out of a cancelation. So we went yesterday.

They did something called a PTEN Gene Analysis. it's a very medical in explaining it but I googled and found this that kind of explains what it is
PTEN-Related Disorders (including Autism Spectrum Disorder) | Ambry Genetics

Specifically with Sam they want to look for Bannayan-Ruvalcaba-Riley Syndrome (BRRS). It does run in my family.

If his tests comes back positive then I will be testing and we will need to decide if we want Sebastian tested as well.

They want me tested as you carry a higher risk for thyroid cancer, breast cancer and uterine cancer. Being there is a history of thyroid cancer and breast cancer in my family, the doctor seems to think it would be worth doing if Sam is positive.

With Sebastian having speech delay and such, they think it would be beneficial as well.

So now we wait 6 weeks to hear the results.

MissyJ's picture
Joined: 01/31/02
Posts: 3210

I'm glad that you got the testing over with as dragging 'til April seemed eternal. Of course now the 6 week wait must be. ((((((HUGS)))))) Will continue the positive thoughts and prayers your way.

~Missy

Danifo's picture
Joined: 09/07/10
Posts: 1377

Glad you got an appointment!

I hope the results give you some answers.

Joined: 12/11/02
Posts: 485

"MissyJ" wrote:

I'm glad that you got the testing over with as dragging 'til April seemed eternal. Of course now the 6 week wait must be. ((((((HUGS)))))) Will continue the positive thoughts and prayers your way.

~Missy

Thanks Missy

Joined: 12/11/02
Posts: 485

"Danifo" wrote:

Glad you got an appointment!

I hope the results give you some answers.

Thank you kindly

indianajones's picture
Joined: 01/21/07
Posts: 1486

I don't have anything helpful to add, but I will be following your posts, as we are just starting down this road. My newborn DS has some physical quirks that don't point to one obvious diagnosis, but may or may not be part of some syndrome. His doctor in NICU sent off a couple chromosome panels (one microarray that will take a couple weeks to come back, and a shorter, simpler one that is supposed to take 72 hours). Waiting on both results at this point.

Hope your results come back and give you a clear direction of what's next and how to best help your little guys.

MissyJ's picture
Joined: 01/31/02
Posts: 3210

(((HUGS)))) Sorry that you are going through this now as well with your newborn. Please KUP on how the results come back and any other way we can offer you support! Unfortunately Nicky does have that btdt experience to share and can be a resource for you.

~Missy

Joined: 12/11/02
Posts: 485

I am sorry you are doing through it as well. Was your newborn early? Just wondering. I hope you get some results and answers

Oh are you still in the NICU?

Sorry about the all the questions.

Joined: 12/11/02
Posts: 485

"MissyJ" wrote:

(((HUGS)))) Sorry that you are going through this now as well with your newborn. Please KUP on how the results come back and any other way we can offer you support! Unfortunately Nicky does have that btdt experience to share and can be a resource for you.

~Missy

Like Missy says I have been there done that. Both of my sons were born early. First one at 34 weeks and younger son at 26 weeks and 3 days.

So if I can help in anyway please let me know. I am pretty much an open book and Missy knows my story well. I have been around and not around Preg.org for quite some time. (crazy to think it's been like 12 years...)

indianajones's picture
Joined: 01/21/07
Posts: 1486

I bookmarked your blogs, read a little bit of the backstory, and will be following them.

I know you read my other post, but I'll answer some here too. DS was born full term, no issues anticipated or seen on any prenatal ultrasounds. Taken to NICU at about 21 hours old because of breathing issues. Biggest diagnosis was pulmonary hypertension. Spent 9 days there, discharged home.

Initial chromosome test came back normal, 46XY. Waiting on microarray.

Also trying to get this little guy to gain weight.. He nurses well but spits up a lot and so far has not gotten back up to his birth weight.