New and with a few questions

About me Introductions and personal stories
1

Hello all.

So my personal story may or may not involve Parkinsons directly. I guess I have a few questions overall and things I need to find out.

Parkinsons has been rife in my family. What has been established with my direct family is it is very much genetic.

Back down the line my great granddad had PD. His daughter (my grandmother) didn’t but she’s always been quite shaky and nervous. Her 2 children, my mother and uncle both were shaky/nervous people all their lives and eventually diagnosed with PD in their late 20’s/early 30’s.

My uncle died in 2010 and my mother died a few years ago.

What was established with my mother, perhaps due to breakthrough’s in research over the last 5 years is that she didn’t have PD as such, but it was more a Parkinsonism thing caused by a faulty gene that had been passed on which is “Autosomal Dominant”.

As people may know, there’s 2 types of gene that can be passed on, Autosomal recessive where people can be carriers but it can only be passed on if both mother and father have that gene, and Autosomal dominant where only 1 parent needs to have this gene to make it a 50% chance of being passed on to their children.

If someone inherits this gene it doesn’t mean 100% they will get the illness but they could have some of the symptoms associated with the illness, or even have no symptoms or illness at all.

For me, just like my mother and uncle I struggle with severe nervousness. They had that all their lives and then ended up with their illnesses. In a way it was like all those nervousness symptoms were close to Parkinsons symptoms and all that needed to happen was the dribbling and more hand tremors for the diagnosis to happen.

I’ve been to doctors but I’ve only ever been diagnosed as having anxiety, event though none of the anxiety treatments have ever worked.

The big problem I have is when I mention the Autosomal dominant illness to doctors, they don’t actually have a clue of what that is. Then when I mention Parkinson’s they tell me outright that I don’t have it, simple as that.

I don’t know weather the findings are quite new so they don’t understand. It’s always classed as anxiety and I’m sent to mental health teams. When I try and explain it to them about Autosomal dominant, they become very dismissive as their views of PD seem to be that it’s an old persons illness and I’m not showing the symptoms of dribbling and extreme stiffness so it can’t be that.

What it means for me now is I’m missing out on the support I truly need, especially if it is something to do with that Autosomal dominant gene which as we know can’t be cured but with the right support people can live a relatively normal life.

I don’t know how I can approach a doctor about it before like I said before, whenever I do they are so black and white about things saying I don’t have PD and it’s just anxiety. Yet, no treatment for anxiety actually works.

They even say the more I go out, the more the anxiety should reduce, but this never reduces. Then when I say that I get the blame for not trying hard enough, even though the symptoms could be down to that gene.

Anyway thanks for reading

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Hi @Spacehop32
I’m Tommy
Your story sounds like a proper fight for a definitive diagnosis.
Could I suggest a site on Facebook called parkinsons Road it is run by a pwp called Dean Parsons who had a 20 year battle just to get his diagnosis.
Dean also appears on a parkinsons radio show every Saturday night with DJ Johnny Parky.
You can Google radio parkies UK to listen live or download shows later on mix cloud.
Hope this helps
Tommy :pill: :pill: :pill: ™

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Hi @Spacehop32,

I see you’ve already received a warm welcomed from Tommy which is great. I passed the information you shared about the ‘autosomal dominant’ gene to our research team and thought I’d share the following information:

Parkinson’s is often an ‘idiopathic’ condition, which means that it usually isn’t connected to any particular cause. However, for a small minority, Parkinson’s can be caused by inherited changes in genes. For other people, genetic variations can play a part in increasing the risk of the condition. It’s a complex and changing picture but, so far a number of different genes have been linked to different effects on the risk of Parkinson’s.

I am unsure from your post which specific autosomal dominant gene you are referring to. But I can provide some information on the genetics of Parkinson’s and information about genetic testing -

Mutations in genes such as PINK1 , GBA , DJ1 , LRRK2 and SNCA are linked to Parkinson’s. Changes in these genes can be passed from one generation to another and also occasionally pop up at random. But, unlike other types of inherited conditions, inheriting one or two copies of a faulty gene doesn’t mean you will definitely develop the condition.

In most cases, inheriting a faulty gene simply increases risk of potentially developing the condition, sometimes only marginally. So, when we look at a family tree of someone with a genetic type of Parkinson’s it is not as clear-cut as most genetic conditions.

It is known that people diagnosed with Parkinson’s at a younger age are more likely to have a genetic link. Changes have been identified in genes including SNCA, PRKN, PINK1, DJ-1, ATP13A2, PLA2G6, FBXO7 and VPS35, and often cause symptoms to develop at a young age.

We now know that there are more common changes that increase risk of developing Parkinson’s to a lesser extent. Inheriting one of them means you are more likely to develop Parkinson’s than someone with the ‘normal’ form of the gene — but this increase in risk is much more subtle, and does not mean you will develop the condition.Two of the most common genes known to affect risk of Parkinson’s in this way are LRRK2 and GBA.

If you are interested in reading more about this and reading about some of the dominant vs recessive genes associated with Parkinson’s please follow the link to our blog.

You may also be interested that it’s possible for people with Parkinson’s, or family members of people with Parkinson’s, to have a predictive test to see if they carry a Parkinson’s genetic risk factor. This will usually happen with support and counselling from the local NHS medical genetics service. If this is something you would like to consider or enquire about, it is best to chat to your GP, specialist or Parkinson’s nurse. They may be able to arrange the testing or consultation with a doctor or counsellor who specialises in genetic medicine or neurogenetics. Some private companies offer genetic testing, but the information provided is often limited and the companies may not provide counselling or advice. We have also written a blog on genetics and genetic testing in Parkinson’s.

I hope you found this useful.

Best wishes,
Reah

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Hello there, thanks a lot for the welcoming posts. I’m sorry it’s taken a while to respond as I’m a new member and my post was being approved by mods (After a good few days of no post approved email I just logged in and saw it was approved).

I’m going to have a look at that Facebook group now, thanks for mentioning it.

Thank you for that info Reah, I’ve been having a good read of that blog now and what you posted.

I am not fully sure what gene it is in the family but the illness was diagnosed as Autosomal dominant, extra pyramidal syndrome. I have heard something when mum was alive about a POLG gene

The complex thing I’m trying to work out ideally is if inheriting an Autosomal Dominant gene can cause some symptoms without necessarily having the full associated illness. I think I read not long back about this being a possibility.

With my family history and both my mother and uncle being very nervous people all their lives, then developing the illness it seems maybe that’s a possibility.

It’s possibly me talking crackers about something I am no expert with. Had both family members gone to the doctors before the main PD symptoms started like dribbling, they would no doubt have been diagnosed as having anxiety.

There’s a similarity with me having ‘anxiety’ as such and being diagnosed with it after going to the doctors. Like mum and my uncle, it’s always been more physical. My actual symptoms would indicate severe anxiety, but mentally after being examined and doing various questionnaires it indicates mild/no anxiety. I’ve been doing all sorts of anxiety treatments for 10 years with no success at all.

Maybe it’s just a complete co-incidence. Perhaps the same as some research with smoking and PD.

My uncle never smoked and was showing main PD symptoms at around 30. My mother smoked until she was around 33 then a few years later started showing the main symptoms.

I will certainly have a look at that genetic testing because whatever my health problem is, it needs the right sort of support as being told it’s ‘anxiety’ yet no treatments ever working isn’t letting me get the best out of life

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Hi Spacehop32,

I’m glad you found the information above helpful.

To answer your question about the autosomal dominant gene causing symptoms but not necessarily having the illness, Parkinson’s has many symptoms and therefore not everyone will experience the same set of symptoms. Also, there is not a simple diagnostic test for Parkinson’s, a diagnosis is based on someone having symptoms associated with the condition. Therefore many people will experience symptoms long before they are officially diagnosed with Parkinson’s.

In the blog How genetics affects Parkinson’s symptoms (I think we shared this one with him) there is a section listing how the different genetic changes may influence age of onset, symptoms and progression of the condition.

Best wishes,
Reah

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Thank you. I appreciate the time you have taken to reply.

Definitely I understand that about there being no test or anything for Parkinsons as such and it’s the symptoms which make the diagnosis. My uncle and mother were diagnosed only after they started dribbling and had the hand tremor.

I know at current, that even if I have inherited the Autosomal Dominant gene (which I will go to the doctors to try and find out where genetic testing can happen) I don’t have any of those typical symptoms which could be diagnosed as PD.

The main thing I can’t seem to find or understand from the blog is about certain traits being an indicator of Autosomal dominant inheritance…

…So my mother and uncle…Nervous and shaky people all of their lives for no reason (no fears or phobias). Then in late 20’s and 30’s they showed Parkinsons symptoms (dribbling and the hand tremor) which was diagnosed as PD via Autosomal Dominant inheritance.

Me… Nervous and shaky person all of my life. I go to doctors and I’m told it’s anxiety.

The thing is though, Anxiety is a mental health problem. Typically it’s where someone has irrational thoughts and phobias which generates those nervous and shaking symptoms.

Whereas just like mum and my uncle, there are no fears or irrational thoughts there. The symptoms just happen for no reason.

So that’s the main thing. Finding out weather those traits are an indicator that I have inherited an Autosomal Dominant gene (And thus it’s a physical health problem) or weather it’s just a co-incidence (and my symptoms are Anxiety, a mental health problem) in order to get the right support.

GP’s often don’t understand these things and with several I have seen they don’t even know what “Autosomal Dominant” is

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