Diagnose with a genetic form of young onset parkinson


#1

It's been over a year that I have been having test and I can see a marked improvement in me with the medication that I am on yesterday I was told that my Parkinson is the genetic form and was wondering if my medication will change and what the genetic form of Parkinson means for me in the future as I am only 34 years old


Inherited Condition
#2

Hello Bobby and sorry to hear you have this at a young age. I was a bit older at 38 with diagnoses but not to much difference. If you look on the site there is information about it.

When i was diagnosed my consultant kept me off meds for a couple of years  as I was just about coping with shaking. Over time he put me on meds and have steadily increased as condition develops you so will find the same. They will increase to counter progression of the disease with a slow progression. We are all basically having similar symptoms but they differ in severity for everyone so can't be specific about how it will effect you.

You must be scared and confused about the future and how it will affect as same thoughts went through my head. First thing i suggest is use all help available PD nurse, This sites young adviser, the site it's self, Read up on diiet and exercise. It may sound easy to say but hasn't been but try to keep as positive as possible. You will be up and down so come on site as people on here are great and wish I had found it myself a longer time ago. There is no better place to get help, advice and some one who understands than from sufferers themselves. Don't isolate yourself from support.

Sorry couldn't help in a more scientific way and has I have been told we don't know what could happen tomorrow, next week, next year so concentrate on doing the best for now.

Not sure if this helps as new to givng thoughts and advice to people but it is a road more than you may think have travelled so read the forum for help and guidance.

John

 


#3

Nice pic and found that dog is a great motivation get about and about.


#4
Hi bobby1983, As the above post says, you've been given a real blow at a young age. If your still mobile find an exercise that works for you. Yoga, pilates, walking or any kind of stretching. This keeps the muscles from stiffening. Diet plays a part if only for the psychological side. Lots of tips here. Try to remain positive and get a good support network around you. Live your life to its fullest and try not to let PD dictate how you think. Hope this helps.

#5

Hi th re it’s been a while since I got diagnosed with the genetic form of Parkinson’s I have an mutated genes cell ( park2) which has given me the illness and was told that it would have been give to me or passed down from one of my parents , anyway times passed and both of my mum and dad have had The genetic test and both of them got the all clear over the park2 gene mutation Can anybody shed any light on this as I was told would be 99.9% sure that it would’ve been passed down by one of my parents.

Also on another note I would like to help Parkinson uk in any way I can as I am an anomaly and feel I could help people with what I’ve been through


#6

Sorry to hear about your diagnosis at such a young age.

I also am classified as young onset and have a family history of Parkinson’s that goes back four generations. I have been tested for the two most common genetic mutations (variants of the genes LRRK2 and GBA) that came back negative and am now undergoing more comprehensive genetic testing that I expect will establish a rarer genetic defect as a contributory factor.

A few comments on the above (to the best of my understanding - I am not a medical professional):

(1) There are quite a number of variants in certain genes known to increase the risk of developing PD. There is a list here: https://panelapp.genomicsengland.co.uk/panels/108/ and new ones are still being discovered.

(2) Carrying one of these variants does not guarantee that you will get PD - as with many things in life, it’s a combination of genes, environment and luck that results in a condition developing. In particular, even if you have passed a faulty gene onto a child, it does not guarantee that the child will develop PD later in life.

(3) Genetic defects can very occasionally arise from spontaneous mutations, so if you carry a genetic variant it is not necessarily one that was passed down from your parents.

(4) Currently there are only generic treatments for PD like L-dopa but there is a growing realisation that PD may take different forms. Research into the genetically linked forms of PD hopes to develop more targeted treatments for these different forms of PD. See this video for more information: https://www.youtube.com/watch?v=6F-Bx7qjnSo

I have written about my own ongoing genetic journey on a blog here that may be of interest: https://shakingsteven.blogspot.co.uk/2018/01/faulty-dna_6.html.


#7

For anyone interested in genetic research into Parkinson’s there is a good Webinar from the Michael J Fox foundation here:

https://www.michaeljfox.org/understanding-parkinsons/webinar-registration.php?id=34&e=1578842&k=E790D296A805D186444705D71CB12267&et_cid=1032373&et_rid=232357585&et_lid=Watch+now.em_cid=