How to get a diagnosis??

[Simpsonmom]

Hello, after many years and extensive research (today) I am almost 100% sure this is what I have been suffering with - but how do I go about getting a diagnosis? I don't have a family doctor - as just moved to Nova Scotia, and am not sure about asking for help from my local clinic. Also, does anyone have any advice on how to approach your doctor about this? Where your doctors positive? What was your diagnosis experience? Thank you all.

[DonnaG]

Hi Simpsonmom, I am in Nova Scotia as well. I spent a few years chasing a diagnosis, finally back a few years ago my family Doctor referred me to a neurologist, and he did the usual EMG test and blood work, my EMG test showed Neuropathy but then to figure out the cause as I am not diabetic, don't have Lyme disease, or an autoimmune disease. In the end we decided to send blood work to check for a hereditary disease and then that came back positive for SPTLC1 mutation, that is causing all my problems.I have attended a Pain Management Clinic here in Halifax, and it was a life saver. If you would like I can give you my contact information and we can chat. I maybe able to point you in the right direction, and sometimes it is just nice to have someone to talk with. Just let me know.

Donna

[Simpsonmom in reply to DonnaG]

Thank you so much! After looking into things a bit more I am inclined to think I have Peripheral Neuropathy - but as whatever I DO have is getting worse I really do want to get things figured out. I am not sure if Pain is the correct way to describe my symptoms - but then again I have a very high pain threshold - so I just find the sensations I have annoying and distracting for the most part. I am worried about the numbness and the vision problems mostly. And just want to get this figured out. Do you know if you need a family doctor to refer you to a neurologist or can you call yourself?

[JenDxbc in reply to Simpsonmom]

Hi Simpsonmom,

Just speaking from my own experiences, I am thankful to have a family doctor. They get reports from any specialist I have seen so they have the big picture. My family doctor makes all my referrals. Over the past 9 years. I have seen an oncologist, 2 general surgeons, radiologist, neurologist, cardiologist, and physiotherapist. I have also seen a pain rehab specialist. My family doctor also receives all imaging reports and I have a checkup every 2 years. I turn 52 in December and I plan to be around for many more years. Having a family doctor, dentist, and optometrist says to my adult children that Mom is looking after herself. And that is why I value having a family doctor. Hope this helps or at least distracts you for a few minutes. Jennie

[Shorejds in reply to DonnaG]

Donna were you perchance a DES baby? We're did you send the blood fir sequencing? Did you see a geneticist?

What information did you Learn about the hereditary condidition

Appreciate your learnings.

[DonnaG]

My understanding is that there can be a trigger to cause the gene to mutate. In my case there is some other family members with PN. Interestingly enough just before all this started with me, I was on an RX for a UTI and was given Ciprofloxacin ( family of Fluoroquinolones) within three days of taking this I had a total rupture of an Achillies tendon, that required surgery to repair. Then the Peripheral Neuropathy started.This class of drugs are known to cause ruptured tendons and Central Nervous problems including Peripheral Neuropathy. My theory is that the caustic effect of the Ciprofloxacin caused the gene to express itself. I may be right out there in left field on this , but everything seems to line up time wise. There are many people walking around with tendon issues that have not related their problems, back to this class of antibiotic.

[Arjay33 in reply to DonnaG]

Hi, Donna:

I was very interested to read your posting. We had been unable to come up with a cause for my Peripheral Neuropathy (Idiopathic Pain).

In the fall of 2014 I took Macrobid 100 mg (family of Fluoroquinolones) for a UTI and shortly thereafter I started to experience PN symptoms. So I was shocked and upset to find out that there can be a connection between the two and even the maker of Macrobid acknowledges that one of the side effects can be PN.

Since then it has progressed to the point that it is negatively affecting all aspects of my life. My distress is making me feel rather helpless like my life is slipping away and I don’t know where to turn for help. None of my friends or family has experienced this so they are unable to understand what I am going through. My only treatment is drugs and they don't seem to be helping much with the pain and my memory has been affected. I still have a lot of living to do but at the moment it seems to be on hold.

[Shorejds]

Dear Simpson mom...write your MLA. There is one for your area. They will intercede. You have the right. Even contacting your MP federal representative will help.

Are you diabetic?? This could get you help call Canadian Duabetes

It took us forever in BC to finally get to a neurologist. Be persistent.