Anyone have experience with genetic testing?

[Denisemomof4]

Did your insurance cover it? Why did you do it? Was a ton of blood drawn? Did anything else happen to complete tests besides blood draws? How long did it take to get results?

[Denisemomof4]

Oh, and did you get any diagnosis you didn't already have?

[jujsky]

DH and I had some done before we tried to conceive. I'm of French Canadian descent and he's a Jew. Both can have genes for a specific birth defect (Tay Sachs, I think? I don't remember) so we had it done to make sure we weren't carriers. If we were, we wouldn't have even tried to have biological kids. The test was easy -- they just took a little bit of blood. If you're testing for a variety of things, I don't know if they would take one vial or several. We were testing for that one specific marker.

 

Edited to add: Yes, insurance covered the test, but I think they only covered it because of our shared heritage. If we weren't both in higher-risk groups, they wouldn't have because both people need to be carriers for the child to end up with this specific defect.

[BlueTaelon]

I've had genetic tests done on a few occasions, sometimes they take blood and sometimes its just a mouth swab,

[ravinlunachick]

DS had testing done for Fragile X and a microarray analysis done after his autism diagnosis. His developmental pediatrician referred us to a geneticist, who met with us and did a physical exam. That appointment lasted for about an hour. We were given a time to go to a lab for the blood draw, and they took 3 vials of blood from ds. In retrospect, I should have asked for EMLA cream, because it was quite the ordeal getting the needle in. :(

 

Anyway, the results were back within a couple of weeks, iirc, and we had a follow-up meeting with the geneticist to discuss the results. For ds, nothing showed up, so we didn't get any answers for anything--just ruled out some possibilities. It was covered by his Medicaid insurance, but I believe that our current insurance would also cover it, since it was done as a result of his autism dx.

[Denisemomof4]

DH and I had some done before we tried to conceive. I'm of French Canadian descent and he's a Jew. Both can have genes for a specific birth defect (Tay Sachs, I think? I don't remember) so we had it done to make sure we weren't carriers. If we were, we wouldn't have even tried to have biological kids. The test was easy -- they just took a little bit of blood. If you're testing for a variety of things, I don't know if they would take one vial or several. We were testing for that one specific marker.

 

 

Thanks for sharing. I am waiting for the ped to call me back and I hope he will be supportive of this idea. i'm pretty much fed up with treating symptoms in dd13 as they pop up - this whike we STILL don't really have answers. While I'd like to pin everything on the Lymes label, I know in my heart not everything is due to Lymes.

 

I am also extremely discouraged with the weather here! If we don't get a good snow pack this winter and have to deal with another out of control tick dilemma, I may seriously consider selling the house and taking the girls to a safer state. Dh would have to stay here for his job. :( I will try new guine hens and peacocks first but since half our famiy now has lymes, I am getting REAL nervous. We need SNOW!!!

[Mrs Mungo]

We have done a couple rounds of genetic testing with a couple of my kids. Our insurance fully covered it. There was no positive test, other than as a carrier. It wasn't a ton of blood, a normal amount for standard blood panels. The results took a few weeks. We met with a geneticist who looked them over.

[k2bdeutmeyer]

DD sees a geneticist regularly. She's had a LOT of testing done. Feel free to PM me if you have specific questions.

[Denisemomof4]

DS had testing done for Fragile X and a microarray analysis done after his autism diagnosis. His developmental pediatrician referred us to a geneticist, who met with us and did a physical exam. That appointment lasted for about an hour. We were given a time to go to a lab for the blood draw, and they took 3 vials of blood from ds. In retrospect, I should have asked for EMLA cream, because it was quite the ordeal getting the needle in. :(

 

Anyway, the results were back within a couple of weeks, iirc, and we had a follow-up meeting with the geneticist to discuss the results. For ds, nothing showed up, so we didn't get any answers for anything--just ruled out some possibilities. It was covered by his Medicaid insurance, but I believe that our current insurance would also cover it, since it was done as a result of his autism dx.

 

Thank you. It really does sound as simple as a blood draw.

 

I am glad your son had no other issues.

[jujsky]

Thanks for sharing. I am waiting for the ped to call me back and I hope he will be supportive of this idea. i'm pretty much fed up with treating symptoms in dd13 as they pop up - this whike we STILL don't really have answers. While I'd like to pin everything on the Lymes label, I know in my heart not everything is due to Lymes.

 

I am also extremely discouraged with the weather here! If we don't get a good snow pack this winter and have to deal with another out of control tick dilemma, I may seriously consider selling the house and taking the girls to a safer state. Dh would have to stay here for his job. :( I will try new guine hens and peacocks first but since half our famiy now has lymes, I am getting REAL nervous. We need SNOW!!!

 

We do need snow -- even if I hate driving in the stuff. NH without snow.....it's wrong.

[PuddleJumper1]

We've had lots of genetic testing done around here for various reasons. As far as I can remember it has always been covered. Fertility for dh and I, celiac for me, chromsomal for ds (several times). Those have been covered by insurance. I have seen the EOBs and bills and they can be costly depending on the tests being run. Results have taken anywhere from a week to a month.

 

All of us have had chromsomal studies done due to ds' syndrome but that was all covered under research money.

 

If you have an idea of what you think you might be looking at I'd do a goolge search for research protocols that might be going on in those areas. It's possible your dd might fit into a research project being done somewhere. Ds was finally diagnosed through trials at the National Institutes of Health. He is followed very closely by a team there and everything done for their research is covered by grant money.

 

I have a friend with a child with issues of unknown origin. She went straight to a geneticist for evaluation which resulted in genetic testing. It did take time to get an appointment. I don't know what her insurance covered on the blood work though. Our geneticist has ordered several of ds' tests which have been covered.

 

:grouphug: The road to diagnosis can be quite a journey as you've already discovered.

 

Came back to actual answer your other questions :)

 

Genetic testing for ds (and the rest of us) was quite a few tubes of blood as they were testing for multiple things. My genetic testing for celiac was one tube because it was specialized. We have also had cheek swabs done once.

 

Ds' tesing began in the NICU when he was referred to genetics. Other testing was done to rule things out (infertility issues, celiac)

 

Yes - we have recieved new diagnoses (or had some more defined) with each test.

[gardenmom5]

we tested one child for a very specific genetic mutation. It was covered.

 

we tested because another child's blood work is leading us to believe he has the mutation (it's inherited). He will be tested this month as he has to be retested on a couple of things anyway.

 

for the particular test we did, it didn't need a lot and we will only be doing one vial this time. (previous blood work has required four vials - but again, many tests were being run.)

 

now we know for certain about the mutation, it makes treating the resulting issues easier because we know what we are dealing with. we've been treating the one who started this all as though he has the mutation since last spring - and we're still seeing gains months later.

 

eta: I don't know what age child you need to do a blood draw on, but the one at ds's dr's office who does the draw has a tablet for the kids to watch something or play a game during the draw. Ds had 12 weeks of daily injections during which time he got to play games on my phone. someone suggested throwing a blanket over him like a tent so he coudln't see me coming with the syringe. worked amazingly well for a very anxious child.

[PuddleJumper1]

One other thought - genetics is an ever changing and evolving science. Not getting a diagnosis now doesn't always mean that's the end of the story. What ds could not be diagnosed with at birth he was diagnosed with at 2 years old. We had to wait for genetic research to catch up with him.

[A.Balaban]

We were sent to a geneticist. The geneticist only did a physical exam, and opted not to do any blood work. This was because he could clearly tell that DD did not have the syndrome that the endocrinologist "thought" she could have. (Sigh... that endocrinologist still makes my blood boil.)

[Jan in SC]

We had some genetic testing done. It was a blood draw, but they didn't take much. They did use the cream for my son, and he didn't complain. (He was five.)

 

It ruled out certain issues for us, which is what we hoped!

 

Our insurance covered it, and the geneticist only charged what the insurance would cover, so there wasn't even a co-pay.

[Ottakee]

We have done a lot of genetic and mitochondrial disorder tests. I know that at one point they took 11 tubes from dd but seriously she didn't mind at all and it did give us the answers we were looking for. Insurance covered their tests.

[somo_chickenlady]

I was tested for the breast cancer gene BRCA, so not general genetic testing. It was NOT covered by our insurance, but my parents paid for it b/c they wanted it done. It was something like $5k each for me and my sister. It was one or two vials, and it took quite a while for the results to get back, at least a couple months I think (I don't remember exactly). We were tested for it b/c my mother and my late aunt (who died from breast/ovarian cancer) both were positive for it. Both my sister and I were negative.

[KungFuPanda]

DS had genetic testing. Insurance covered most of it. It was thousands of dollars. They needed to pinpoint exactly which exon was skipped on which gene to determine his exact type of Duchenne's muscular dystrophy. They took a couple vials of blood. It came back in two weeks.

 

I'm not sure how it would work if they had no idea what they are looking for. I can't imagine the number of vials or expense involved to test for every possibility. You may need some sort of medical theory to know what tests to order.

[Spryte]

My LLMD has done quite a bit of genetic testing due to the way I have responded (or not responded) to treating co-infections to Lyme. Some blood draws, some swabs. Most was covered because she is cost conscious, but once in a while she uses a specialty lab.

 

If your DD has certain gene mutations, it can impact what treatments are best for her Lyme - or rather, what treatments will work best for her body as she treats the Lyme et al.

 

As you treat her Lyme, don't forget to request more co-infection testing. While those tests may have been negative, something new can show up. Babesia Duncani did not show up for me till we'd fully treated Microti. LLMD finds that's not uncommon.

 

But, overall, my genetic tests showed I was a rotten person to catch the Lyme buggies.

 

Oh! And has she been tested for hypercoagulation? Big one there, in the Lyme world.

[FaithManor]

Thanks for sharing. I am waiting for the ped to call me back and I hope he will be supportive of this idea. i'm pretty much fed up with treating symptoms in dd13 as they pop up - this whike we STILL don't really have answers. While I'd like to pin everything on the Lymes label, I know in my heart not everything is due to Lymes.

 

I am also extremely discouraged with the weather here! If we don't get a good snow pack this winter and have to deal with another out of control tick dilemma, I may seriously consider selling the house and taking the girls to a safer state. Dh would have to stay here for his job. :( I will try new guine hens and peacocks first but since half our famiy now has lymes, I am getting REAL nervous. We need SNOW!!!

 

 

 

I am so sorry Denise! Your dd has been through so much.

 

You DO need snow and we'll pray for a very hard winter, long freeze, etc. because you need the bug population to subside.

 

I wish there was a "House" and his team somewhere. That's what you need, Hugh Laurie and his genius team on her case, but possibly with Hugh exhibiting a better bedside manner.

 

Sigh....this is a great country if you have a trauma and need life saving intervention. But, our medical system is crappy for the diagnosis and treatment of chronic illness.

 

You might get farther with an infectious disease specialist who was trained in Europe and in particular Britain or Scandinavia. My parasite problem that I brought home from Jamaica persisted and nearly killed me until we just happened to be at the hospital when a British doc was there lecturing. I probably would have died had it not been for that chance encounter. His knowledge of chronic illness, immune diseases, and infectious disease was FAR superior to his American colleagues. Since then, the only doc that has been a real help to me is one that was also trained in Britain. I have also heard that Aussie docs as well as Scandinavian docs tend to be pretty great in this area of medicine.

 

I hope you find answers!

 

Faith

[Denisemomof4]

We have done a lot of genetic and mitochondrial disorder tests. I know that at one point they took 11 tubes from dd but seriously she didn't mind at all and it did give us the answers we were looking for. Insurance covered their tests.

 

Did the blood draw cover the mitochondrial tests?

 

Dd has had 12 tubes taken at once. We just need to make sure she is hydrated.

 

I'm really trying not to get angry. Why was genetic testing never suggested? A friend recommended it. Dd has seen 29 doctors. Nobody ever wants to admit they have no clue. Everyone has a different answer abiut lymes, whether or not she has it, and how to treat it. Words cannot express my level of frustration.

[Denisemomof4]

My LLMD has done quite a bit of genetic testing due to the way I have responded (or not responded) to treating co-infections to Lyme. Some blood draws, some swabs. Most was covered because she is cost conscious, but once in a while she uses a specialty lab.

 

If your DD has certain gene mutations, it can impact what treatments are best for her Lyme - or rather, what treatments will work best for her body as she treats the Lyme et al.

 

As you treat her Lyme, don't forget to request more co-infection testing. While those tests may have been negative, something new can show up. Babesia Duncani did not show up for me till we'd fully treated Microti. LLMD finds that's not uncommon.

 

But, overall, my genetic tests showed I was a rotten person to catch the Lyme buggies.

 

Oh! And has she been tested for hypercoagulation? Big one there, in the Lyme world.

 

Nobody ever mentioned hypercoagulation. She tested negative for co-infections and I don't know what to do about that. I get so much conflicting information that it takes every ounce of energy to get through her appts without crying.

 

The eye which dropped a month ago? Now the eyebrow is 80% gone. It fell out all at once. It itched, she scratched, she saw the hairs, ran to the bathroom, freaked out. And one doctor had the NERVE to laugh when I called worried about it. The LLMD has been sitting on this since last week.

 

I have been advocating for her for 9 years now and I am weary and burnt out. I just wish SOME doctor could take an interest in her issues and help carry this load. I really have no clue.

 

 

[Denisemomof4]

 

 

 

I am so sorry Denise! Your dd has been through so much.

 

You DO need snow and we'll pray for a very hard winter, long freeze, etc. because you need the bug population to subside.

 

I wish there was a "House" and his team somewhere. That's what you need, Hugh Laurie and his genius team on her case, but possibly with Hugh exhibiting a better bedside manner.

 

Sigh....this is a great country if you have a trauma and need life saving intervention. But, our medical system is crappy for the diagnosis and treatment of chronic illness.

 

You might get farther with an infectious disease specialist who was trained in Europe and in particular Britain or Scandinavia. My parasite problem that I brought home from Jamaica persisted and nearly killed me until we just happened to be at the hospital when a British doc was there lecturing. I probably would have died had it not been for that chance encounter. His knowledge of chronic illness, immune diseases, and infectious disease was FAR superior to his American colleagues. Since then, the only doc that has been a real help to me is one that was also trained in Britain. I have also heard that Aussie docs as well as Scandinavian docs tend to be pretty great in this area of medicine.

 

I hope you find answers!

 

Faith

 

Which state are you in? If you don't want to post that can you PM me? I've also considered CHOP but somehow think a western medical facility, no matter how specialized, is not going to help.

[annandatje]

Did your insurance cover it? Why did you do it? Was a ton of blood drawn? Did anything else happen to complete tests besides blood draws? How long did it take to get results?

 

 

Insurance covered it, but it was a long time ago in late 80s. Our insurance was better then than now.

 

It was performed because doctor suspected Downs or another type of chromosomal abnormality. Our child had developmental delays and some physical characteristics of Downs: the epicanthal folds, short stubby digits, flattish nose bridge.

 

As I recall, not a lot of blood was drawn. I'm thinking it was just a heel stick but I could be wrong.

 

In addition to blood drawing, they did measurements and took an extremely detailed family medical history on both sides of family. It was at a university teaching hospital so several professionals were involved.

 

I think we got the results in 2 or 3 weeks.

[Tiramisu]

I'm just jumping in here, but I guess you've seen a rheumatologist. I've heard that strange hair loss issues can be autoimmune.

 

Since Spryte brought it up, the autoimmune-related blood tests that the rheumatologist ordered for dd included ones for hypercoagulation. The tests were done by a major children't hospital but still sent to the Mayo Clinic, possibly for verification. All were normal.

 

The rheumatologist also screened dd for a genetic disorder but opted not to do a blood test. Dd had already had genetic testing and it was normal. It was a blood draw and covered by insurance.

 

I really love our pediatric rheumatologist. We only met her twice and have no reason to go back again, but I would recommend her highly. :)

 

For what it's worth, our ID doctor was trained at CHOP and is very mainstream in his approach to Lymes. I still think he's amazing. I would try to verify that CHOP is really different from what you've been dealing with already before making the trip.

[Mergath]

My dd had genetic testing done when she was younger because at the time, she had some delays. She was on state insurance at the time, and they covered everything. All they did was draw blood, but I don't remember how much they took. It took about a month to get the results because they did some pretty comprehensive tests, and we ended up finding out that she has 16p11.2 deletion syndrome. They tested dh and I for the same deletion, and neither of us has it.

[Denisemomof4]

The pediatrician suggested infectious disease first. He said with genetic testing you kind of need to know what you're looking for???

 

We could never give a detailed medical history of dh's family. His parents left Lithuania after WWII and dh is the only family member born here. He never met his family and his mother never shared medical issues other than her sister's breast cancer. She now has dementia and his father died decades ago.

[Crimson Wife]

With genetic testing, if you're not sure what exactly you are looking for, it can get very pricey very quickly. I have discussed mito testing with my youngest's pediatric neurologist and even with DD's "red flags" for mito disorder the neurologist doesn't think it's worth the $$$$ at the current time. Insurance would pick up some of the tab but we'd still have to pay a good chunk out of pocket. Unfortunately, at the current time, there aren't any treatments beyond the nutritional support we're already doing. So we'd be paying for a definitive answer but we wouldn't be able to do anything with it.

[Tiramisu]

The pediatrician suggested infectious disease first. He said with genetic testing you kind of need to know what you're looking for???

 

We could never give a detailed medical history of dh's family. His parents left Lithuania after WWII and dh is the only family member born here. He never met his family and his mother never shared medical issues other than her sister's breast cancer. She now has dementia and his father died decades ago.

 

 

We wound up at ID because of a false blood test. ID learned about another blood test result and recommended rheumatology. He said he has had patients with unexplainable symptoms that are eventually diagnosed by rheumatology.

 

We have a similar medical history situation with only one person surviving the war. On top of that, all health problems were attributed malnutrition during the war and afterward so it's hard to sort it all out.