I have just been to see a new Neuro who has told me he thinks I may have Genetic PD. He has tested me but says the tests take about a year (!) to come back. The most alarming thing about this information is that my children have a 25% chance of developing PD. Does anyone have anything helpful to say abotu the subject?

Thanks

Trixiedee

Do you know about the 23&me initiative which does genetic testing free for people with Parkinsons and will evaluate the genetic risk for you. I think you will only have to pay the cost of shipping

https://www.23andme.com/pd/

I have PD in my family and worry for my kids too.

I don't have PD in my family so am surprised to be told it's genetic. I am being tested for free on the NHS - is there any point in getting another test? What would I do with the knowledge that it is genetic (except for worry for my children?).

Trixiedee

It seems an amazingly long time or results to get back to you , a whole year!
I understand what you are saying about knowing/not knowing, sometimes it might feel better not to know! But I am surprised that genetics has been mentioned,maybe you are atypical and your neuro can tell from your symptoms because they differ in some way. The 23&me thing is something you can do without ever getting the results if you are so minded. They are aiming for 10,000 pwp's and it is already starting to shed a little light on PD. So it IS worth doing as a contribution even if you do not want to see the results.

Genetic things do not always come out in a family sometimes is is a combination of factors. It is not my thing, so I can't speak scientifically on this, but maybe someone else here knows.

I'm in the UK too, so maybe the year long thing is just part of our much loved but rather slow system of health care.

Lindy

Hi,

I don't want to burst anyone's bubble, but 23andMe only (at this time) tests for the LRRK2 mutation which only results in late onset PD. Chances are as a young onsetter, you would not have the mutation. My results came back negative.

As Lindy suggests though, I would highly encourage you to sign up. They have already made 2 PD related genetic discoveries which will be published in academic journals. Plus as new tests relating to genetics and PD are made more available, they will use our original DNA sample to test us and update our health profile. It also tells you drugs you may respond to or not and this may actually one day factor into a doctor's decision on what drug may work best for you. It will give you scores of data on other potential health risks, but not all is doom and gloom...it will tell tell you if you have that gene that causes aspagarus to not get along with your urine.

I also want to note on difference in UK vs. States on genetic testing. My dad does not have PD but has had a bilateral hand tremor for many, many years. I learned his father also had an undiagnosed hand tremor. I started with a mild hand tremor but the red flag for me is that only side affected. I went five years being told ET then my whole world changed.I've asked 2-3 neuros why I could not participate in genetic studies and their criteria is you must have one direct relative with PD diagnosis. It's maddening because it is so clear to me this is some sort of spectrum disorder and my pop and gramps got off rather easily. So you have neuro actually encouraging testing, while I feel I am living proof of some sort of genetic basis for ET and PD; I come close to refusing to leave their office until they agree to test me. I have a little boy who deserves to know. I think largely the difference is your health is not dominated by insurers who only cover you if healthy.

One of my neuro's responses to my inquiry on genetic test was comic, he said "oh, genetic mutations are very rare" and I am thinking "well, so is a tremor and PD in a young lady"

As for length of time, I would call the office and ask why. That seems really suspect but maybe that is more prevalent in UK. I'd be happy just for someone to offer at this point! Good luck on that. Here is a good, clear overview of genetics and PD...

http://ghr.nlm.nih.gov/condition/par...-disease#genes

-Laura

Trixie,

I find it quite odd for a neurologist to tell you you have genetic PD. It is extremely rare to have a truly hereditary form of PD. Some doctors will note, if there is a family history of PD that your risk for PD might have been higher but those higher risk factors could be a consequence of genetic risk factors or environmental risk factors...families share both. But, little can be said with the information that doctor has about risk factors for your children (I don't know if the 25% was your assumption or the docs, but such calculations are not simple and its highly unlikely that it is accurate--likely way too high).

Rather than try to interpret the doctor's statements (to make sense of them), might I recommend you try to see a movement disorders specialist... Depending on where you live, you will hopefully have access to one. You will likely get better information and you will likely get better care.

On 23andme's PD community study, the test (which is essentially free for all PD patients) doesn't test for all known PD mutations but it does test for the most common genetic mutation (LRRK2). LRRK2 mutations (again the most common) are only seen in about 3% of the PD population (although higher in some ethnic sub-populations). So other mutations are even more rare. It is important to note that the vast majority of PD patients are still considered idiopathic "cause unknown" ... having said that, the more patients who do the spit test, perhaps the more we could learn about additional "common" genetic risk factors for PD.

But, my main point here is I believe you have been given erroneous information and with that in mind, I'd consider finding a new doctor -- a movement disorders specialist if possible.

Debi

I'm curious as to why a movement disorder specialist is recommended over a neurologist. I was diagnosed two years ago and was initially referred to a neurologist, which seemed logical at the time. It was not a good doctor-patient relationship, however, and I asked for an alternate referral. I was then referred to a movement disorder specialist who is wonderfully helpful.

I would like to know why one specialty is preferred. I have one friend with PD who is not doing so well and I would love to suggest a new resource to him, but not without a good basis.

Thanks

Jo,

Without sounding cheeky a MDS is a neurologist, but one who has further refined and/or confined his practice to treating disorders that hit parts of the brain primarily controlling movement. However, it is now becoming more widely accepted that PD, at least, is systemic.

Why is an MDS better? In my opinion, I would give the edge to the MDS for diagnosis as they have more training and experience in discerning subtle differences between conditions as early on symptoms of PD can look like other things. As for treatment...the MDS will be better qualified to manage your meds too. They should also be able to cut through the crap...a lot of misinformation floats around out there about PD, and that misinformation can be harmful. For example, I have heard a doctor with PD express that he was not so worried because he was tremor dominant and so had a more benign form of PD. This is not established or proven at all but it has become accepted that tremor dominant pwp have a better prognosis based on observational studies. Yet, there are studies showing that a person's presenting subtype may change, so you cannot determine anyone's future from this. My doctor knows this and these kinds of things are important to me. I look for a doctor who knows as much as I do about PD yet who is confident and secure enough so when on the rare occasion he might know will readily admit it and look into it for me.

This is not to dismiss plain regular neurologists; you never know. I guess it comes down to you feeling confident that your doc is knowledgeable but also respects that you live with this disorder, so he listens to whatever weird thing you may have going on. This tempered with whatever you might want in a doctor. If you have a neuro who you like and who you feel confident in then so be it. Me, I would endeavor to find the best MDS around and stick to it. That's just me.

Is that what you were wondering? In the end it's a balance between knowing their stuff and not being an arrogant or condescending when it comes to listening to their patients.

Laura

I'm not sure if a Movement Disorder specialist is an American thing, the neuro I saw is a Professor of Neurology (and PD specialist) at the top neurological hospital in the UK. He seemed to come to the conclusion that it may be genetic PD because I have had (mild) symptoms since my teenage years, and also because my symptoms fit the LRRK2 or Parkin genes. The 25% figure was his, he said that if it's genetic my kids have a 50% chance of having the gene and then a 50% chance of getting PD. However I had a very traumatic childhood unlike them (so far anyway!) so I imagine the risk is far lower.

Trixiedee

Hi Trixiedee,
You are right, we do not have MDS here in the UK. As your specialist mentioned LRRK2 as a possibility then doing the 23&me thing would be something that would confirm or rule it out. PD spectrum disorders are hard to diagnose. This would be a quick way of finding out......

Lindy