Re: Thoughts needed, please.

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ok. thanks! I really appreciate the feedback from yall! I think we will go ahead and do it - just to know that we did. Thanks again, ladies! JenTo: mb12 valtrex Sent: Mon, January 24, 2011 8:07:10 PMSubject: RE: Thoughts needed, please.

No, the genetics counselor took a long, detailed family history that was presented to the geneticist. The genetic counselor and geneticist worked together. No, they didn't even want to test for MTHFR. I had to really push hard for that one. When it came up positive they said it was not clinically significant. Nothing suggested or recommended. "Too many people have this to make it clinically significant." Nothing actionable came of the appointment at all. Though now we can announce to the world what we already knew. IT'S NOT GENETIC!!! We've told everyone - family, friends, physicians,

etc. Insurance paid for it all so I guess with my son being 11 years old I'm glad we can "mark it off the list." Pamela From: mb12 valtrex [mailto:mb12 valtrex ] On Behalf Of MushockSent: Monday, January 24, 2011 5:53 PMTo:

mb12 valtrex Subject: Re: Thoughts needed, please. lol. my struggle is exactly between what you and Cheryl have said. On one hand - if its covered and the ped is willing to refer us - might as well... but on the other hand - it could be a waste of time. What else are they going to tell me? I checked today and it IS covered by ins. we just have a small copay for the specialist visit. I'm curious, Pamela, if they did anything to look at you or other members of the family or just your son? And did they provide ANY info on what to do about/with the mthfr at least? I know there can be lots

of random health concerns from this one. Did you feel like anything they did was helpful? By the way - thanks for your open feedback!! Thanks! Jen To: mb12 valtrex Sent: Mon, January 24, 2011 2:36:37 PMSubject: RE: Thoughts needed, please. We saw one last summer. We are working with a new pediatric neurologist that we actually like. She suggested that a genetic workup might be worthwhile. Our son has an immune deficiency that is considered "rare." Our son is 11 and we have never done a genetic workup because we knew it wasn't genetic. We saw the geneticist at a university teaching hospital. They did a full work up and found nothing…… just like we suspected. Snippet MTHFR was found, the less significant snippet. We had to really push for the MTHFR testing. The geneticist did not want to do it. They said this finding was "not significant." It sucked up time for preparation. We spent

a couple of hours talking to the genetic counselor and the geneticist. Our son had to have 7 tubes of blood drawn. One test alone was about 4 grand. Insurance paid for it all but otherwise the cost would have been a deal breaker for us. The conclusion was that our son had an exhaustive, state of the art genetic workup and nothing was found. Our son has Hypogammaglobulinemia, Hypothyroidism, PANDAS, Seizures, and Autism. Pamela From: mb12 valtrex [mailto:mb12 valtrex ] On Behalf Of jmushock@...Sent: Monday, January 24, 2011 2:00 PMTo: mb12 valtrex Subject: Thoughts needed, please. hello. I'm new to this group, although I recognize some of you from TACA. Anyway - I know most of you are seasoned vets with boimed and have done a lot of things with the medical side of all of this, so I would really appreciate your feedback with the following. I sent this message to a local group I'm a member of as well. We just found out our 2yr old has the same genetic issues on the mthfr gene as our 4 year old on the spectrum and our ped has asked if we want to go to a

geneticist. (and just to say it - the 2y/o is completely fine so far - but we've done things WAY differently with #2 because of #1)I'm not sure if it's worth the time and $$ since we have discovered some of the implications 'the hard way.' Have any of you seen a geneticist and do you have any reasons to go or not to go?Thanks!Jen