LNN Posted October 10, 2013 Report Share Posted October 10, 2013 Cool article - wish Utah weren't so far away... http://www.sciencedaily.com/releases/2013/10/131003095712.htm In part: Whole-genome sequencing, meantime, revealed that the patient carries at least three gene variants, or alleles, that have been associated in other studies with neuropsychiatric illness. These variants were in genes that encode proteins called BDNF, MTHFR and ChAT. The BDNF gene variant is of particular interest. Its protein is a prime growth factor essential in the early development and subsequent healthy function of the brain and nervous system. The other two variants have also been associated in past studies with possibly increasing the risks of mental illness. Other gene variants were found that have implications for the way the patient is either able or unable to metabolize particular kinds of drugs. They also used deep brain stimulation for this particular patient due to his severely disabling OCD. But it shows that at least some researchers are starting to see how this can make big changes. MomWithOCDSon 1 Link to comment Share on other sites More sharing options...
peglem Posted October 12, 2013 Report Share Posted October 12, 2013 Thanks. Very interesting. Link to comment Share on other sites More sharing options...
Hopeny Posted October 13, 2013 Report Share Posted October 13, 2013 On a related note, we were at CHOP this week to see immunology for the non PANS DD. (as an aside, they were great and I was very happy with the visit though I know others may have had different experiences) When we went to do the bloodwork we were asked to participate in a study for "The Genetic Causes of Pediatric Disorders" studying "asthma, allergies, ADHD, autism and how easily some children get infections" doing DNA analysis. They are going to have 100,000 participants and they are half way through. They are years away from publishing but will be unlock more of the mysteries we are facing. I was very encouraged to learn about this study. Link to comment Share on other sites More sharing options...
tpotter Posted October 15, 2013 Report Share Posted October 15, 2013 Hopeny...I suspect the reason you had no trouble with CHOP, was because it was your non-PANS child. I even had a neurologist from CHOP who was seeing my DS for Parkinson's-like tremors suggest PANDAS to me (when I simply described the symptoms and treatments my DS had after already received after being dx by 2 other neurologists and an immunologist...these drs. were not from CHOP.) I was thrilled when he suggested it, because that meant I might get local tx. But, a week later I was still trying to get back hold of him, and when he finally took my call, told me he was actually trying to avoid my call, because he decided it was "conversion disorder." Never went back, and never looked back! But, I'm glad you had a good experience. Link to comment Share on other sites More sharing options...
Hopeny Posted October 17, 2013 Report Share Posted October 17, 2013 Hopeny...I suspect the reason you had no trouble with CHOP, was because it was your non-PANS child. I even had a neurologist from CHOP who was seeing my DS for Parkinson's-like tremors suggest PANDAS to me (when I simply described the symptoms and treatments my DS had after already received after being dx by 2 other neurologists and an immunologist...these drs. were not from CHOP.) I was thrilled when he suggested it, because that meant I might get local tx. But, a week later I was still trying to get back hold of him, and when he finally took my call, told me he was actually trying to avoid my call, because he decided it was "conversion disorder." Never went back, and never looked back! But, I'm glad you had a good experience. Sorry you had to go through that. Yes I would never go to a major medical center just for PANDAS or Lyme. In fact we had a HORRENDOUS experience with a so called Lyme expert rheumatologist at a/the top NYC hospital. Both my kids have an immune complement disorder (discovered through this experience) so its not just a PANDAS/Lyme Dx anymore - though I did drop the PANDAS dx and chronic Lyme quite a number of times I have not taken the Lyme/PANDAS DD there yet but I likely will. IVIG is looming for the immune problem so I want to see how they handle the non PANDAS kid first. I was pleasantly surprised to learn about the study they are doing, though its out of research dept. Will be interesting to see how the tide turns when they eventually publish. Link to comment Share on other sites More sharing options...
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