Return to HDA home page HDA Message Board
HDA About the HDA HDA What is HD HDA Juvenile HD HDA Children & Young People HDA Professionals HDA Resources HDA Research HDA HDA News HDA Events HDA Contact the HDA HDA Home Page

Outside of office hours if you need someone to speak to you can phone the Samaritans on 116 123


Go Back   HDA Message Board > Message Board Categories > New Members

New Members Introduce yourself, and get to know how the HDA Message Board works

Reply
 
Thread Tools Display Modes
Old 08-12-17, 01:34 PM   #1
Cali94
New Member
 
Join Date: Dec 2017
Posts: 1
Default Hello.

Hi, my name is Kyle and I am from the U.S. I know this is a UK based forum but it is the most active one I could find. Anyways, HD runs on my father's side of the family. My grandfather passed away in his 70s from the disease and two of my Dad's siblings also tested positive. My Dad also has another sibling who was tested negative for HD but got diagnosed with Parkinson's. My Dad was tested for the disease 10 years ago and the results came back negative. However, for the past several years he has been having other neurological problems. His neurologist diagnosed him with a super rare degenerative disease called Corticobasol. This is only speculation since the disease can't be properly diagnosed until the patient has passed and a autopsy is performed. So now his doctor wants him retested for Huntington's since they can't figure out what he has and his symptoms are similar to that of Huntington's. I'm just wondering if anyone has ever heard of a situation where the results of a genetic test came out wrong originally. For context my dad is 63 and still seems fine overall. He just walks really slow as a result of multiple back surgeries from work injuries. This is a crazy situation and it has been suggested my family be used in a case study. I'm just terrified since I may be at risk again.
Cali94 is offline   Reply With Quote
Old 09-12-17, 02:07 PM   #2
Trish
Approved Member
 
Trish's Avatar
 
Join Date: May 2010
Location: England
Posts: 2,352
Default Re: Hello.

Quote:
Originally Posted by Cali94 View Post
Hi, my name is Kyle and I am from the U.S. I know this is a UK based forum but it is the most active one I could find. Anyways, HD runs on my father's side of the family. My grandfather passed away in his 70s from the disease and two of my Dad's siblings also tested positive. My Dad also has another sibling who was tested negative for HD but got diagnosed with Parkinson's. My Dad was tested for the disease 10 years ago and the results came back negative. However, for the past several years he has been having other neurological problems. His neurologist diagnosed him with a super rare degenerative disease called Corticobasol. This is only speculation since the disease can't be properly diagnosed until the patient has passed and a autopsy is performed. So now his doctor wants him retested for Huntington's since they can't figure out what he has and his symptoms are similar to that of Huntington's. I'm just wondering if anyone has ever heard of a situation where the results of a genetic test came out wrong originally. For context my dad is 63 and still seems fine overall. He just walks really slow as a result of multiple back surgeries from work injuries. This is a crazy situation and it has been suggested my family be used in a case study. I'm just terrified since I may be at risk again.
Hi Kyle welcome to Messy Board from across the Pond.

Sounds like you have quite a back story there bless you.

I can't say I have any experience of, or can remember reading in here of, anyone who has had a wrong test result. I can see though that it must be such a blow to think, having thought you dodged the bullet someone may have still left a bullet in what was supposed to have been an empty chamber.

I really hope that the original test gets proven as correct. I know it's not a lot of compensation but if it were to have been missed that still means you have a 50% chance of NOT having inherited the disease.

If using your family as a case study I would be inclined to get details of ALL those involved and ask them to make sure you and others are kept in the loop for all the paperwork they expect to send out on their findings and having personal input. I'm kind of picking up (just call me suspicious matured here) but I'm kinda picking up the family physicians have made a lot of assumptions which have highlighted how badly they have handled your family's health/health history. The motives for wanting to look into the the family as a case study needs to be addressing their mistakes as well as the difficulties.
__________________
I tried.
Trish is offline   Reply With Quote
Old 09-12-17, 06:21 PM   #3
Allan
Approved Member
 
Allan's Avatar
 
Join Date: Sep 2012
Location: Hastings, East Sussex, UK
Posts: 1,106
Default Re: Hello.

.
Hi Kyle

5 years ago my son was eventually diagnosed with Young Onset HD (CAG 56) after 6 months of many scans, much testing and, I presume, diligent searching, by elimination, for the correct disease (no family history of HD). Two of the eliminated diseases were: Creutzfeldt Jakob Disease (CJD) and Niemann-Pick disease type C. His eventual diagnosis did include Parkinson-like symptoms, Progressive Supranuclear Palsy and other oddities.

By your Dadís negative result are you saying that he has a CAG repeat count of less than 36 or was the negative result based on movement and cognitive testing?

Corticobasal degeneration (CBD) is a rare disease in which parts of the brain become damaged and begin to shrink. The outer layer of the brain, known as the cortex, and deep parts of the brain, called the basal ganglia, are both affected. It is not yet known what causes CBD but producing too much of an abnormal form of a protein called tau is thought to play a role.

The first symptoms that people with CBD experience are problems with movement, such as stiffness and jerkiness in one or more of their limbs and a failure to control hand movement on one side. As the disease progresses, these problems will often spread to other limbs. Many people experience symptoms of dementia, including problems with memory and thinking. A small proportion of people with frontotemporal dementia also develop CBD as an 'overlapping' condition. Other symptoms of CBD include loss of balance and co-ordination, and difficulties speaking and swallowing.

Currently, there is no cure or treatment available to slow the progression of CBD, but drugs may help some symptoms and physiotherapy, occupational therapy and speech and language therapy may be beneficial.

That could easily be a description of HD.

This review (www.jscimedcentral.com/NeurodegenerativeDisorders/neurodegenerativedisorders-1-1007.pdf) supports the notion of HD as a multi-system cortico-basal ganglia degenerative disease.

Youíve only got to scan these to see all sorts of similarities:

Apraxia in movement disorders

Association of Corticobasal Degeneration and Huntington's Disease: Can Tau Aggregates Protect Huntingtin Toxicity?

Apologies if it all sounds too clinical - but that's where you and your Dad going to get the answers.

Best wishes.

.
__________________
New Day; New Outlook; New Challenges; New Possibilities; New Outcomes; New Successes
Allan is offline   Reply With Quote
Reply

Thread Tools
Display Modes

Posting Rules
You may not post new threads
You may not post replies
You may not post attachments
You may not edit your posts

BB code is On
Smilies are On
[IMG] code is Off
HTML code is Off

Forum Jump


All times are GMT +1. The time now is 06:20 AM.


About the HDA Message Board

A UK-based forum for people whose lives are affected by Huntington's disease and wish to share their experiences with others. Moderated by SHDAs from the HDA, a UK registered charity.

Please Remember

The HDA Message Board is not a substitute for professional advice. Consult a relevant professional before making decisions that could affect you or others.

Donate to HDA


Powered by vBulletin® Version 3.8.5
Copyright ©2000 - 2018, Jelsoft Enterprises Ltd.
Registered Charity No. 296453. Website Content © HDA 2010

HDA