My insurance finally approved my Neuro and MDS's request for me to have genetic testing. Today I had my blood drawn and it will be sent to a lab across the country, Athena Diagnostics. They are testing for Parkin and PINK1. I am curious to see what shows up. I did some reading up on PINK 1 and it sounds a lot like me. Cervical Dystonia, symmetric presentation, stiffness and dystonia. The results should be back in a few weeks. I will keep you all posted!

If you have been keeping up with research, some noted here, there are a LOT more genes at play in PD than just these two. You might want to ask for those to be looked for as well. You are not likely to get your insurance to pay for a second genetic test!

Evonne,

I think they are up to 18 loci for Parkinson's. It looks like you are targeting some of the recessive genes associated with Young Onset. I think there are 2-3 more although it looks like you are going with the most prevalent.

Did you join 23andme? They let you join for free if you have any PD diagnosis and you get your entire genome. They only have officially tested and reported on one major late-onset gene but they add more tests and results all the time. Further, there are other sites that will give you info on the SNPS that 23andme does not report on.

The above is just extra stuff; it sounds like you are in good hands. Here's hoping you find some answers and soon. Keep us posted!

Laura

My insurance is covering 80% of the cost. The testing is very expensive, so I am still going to have to pay a good chunk of change out of pocket. My MDS said that this testing is more conclusive than what they do at 23 and me. I asked her about that because I had heard that was free. I still may go ahead and do the whole 23 and me thing anyways. Is it conclusive, or does it just give you a percentage of how likely you are to develop a syndrome?

All I know is that yesterday when I saw my Neuro, he said that I definitely have some type of parkinsonian syndrome. Guess it is just trying to figure out which one. At least I know that it isn't all in my head. After that negative DaTscan, I just didn't know what to think anymore!

The PINK 1 sounds so much like me. Young onset, symmetrical early in onset, dystonia from onset; including cervical dystonia which I have, exercise induced dystonia, issues with lower extremities, a good response to carbidopa/levodopa. I read more, but can't remember everything I read. The things that I just mentioned are the things that define my experience almost perfectly! I don't want to put all of my eggs in one basket here, but I hope this gives me an answer.

I will keep you posted on the results. My appt. to follow up on the results is scheduled for March 21st. Can't get here soon enough!

One personal anecdote regarding credibility of 23andme testing: the geneticist we consulted insisted that my husband be retested for a few specific mutations because he "didn't believe" the 23andme data. The results were exactly the same...
mainstream medicine does not like it when someone undertakes their own research, testing, methods. The geneticist may have really been concerned that the testing was incorrect. On the other hand, Brin has enough money to hire the best and the brightest, which is what I suspect he has done.

Nice outcome. I think we are going to see more and more resistance from more established practitioners; I believe, it is a fear of losing their authority and not really even knowing much about 23andme in the first place. I was appalled to find out that young women were not now routinely screened for genetic forms of cancer. In the 230,000+ women diagnosed each year, nearly 15% have genetic cause. Insurers won't cover it or the oncology powers that be do not push for it because it is a "small" percentage! Well that is over 26,000 lives that are being toyed with. I told my OB/GYN about 23andme; she was going to start recommending the service to her patients.

I read a review article on genetics and PD that concluded all young -onset PD patients should be genetically tested. The recessive mutations potentially cause problems for our grandchildren who then may be afflicted later, so it really is important to know if you have kids. What really gets me is that I cannot see many doctors getting our diagnosis with so little actual testing done. Really, I can't figure out how we get that idiopathic label in the first place.

As for the scan, I think I put more faith in it than I should have. One of the reasons we do not have more definitive diagnostics or scientifically reliable measures of progression is because disease severity does not correlate to number of Lewy Bodies or alpha-synuclein amount or even amount of medication. People with Parkin 1 have no Lewy Bodies because they have no alpha -Synuclein aggregation at all! Until they start looking at the larger picture, we are essentially on our own or at their mercy.

Laura

Evonne, watching your case with interest, some of it for myself, but mainly for a resolution for you. I so relate to that knowing it isn't just in your own head thing! Best wishes with it all, and keep on keeping us posted, there are so many mysteries with this disease every little bit of the jigsaw has some part to play - and by that I mean us, the people who are living with it. The spectrum seems to be getting wider, as patients connect and share their experiences of both doctors, interpretations of symptoms, and PD itself.