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 > Research, drugs, treatment, new diagnosis

Research, drugs, treatment, new diagnosis Forum for medical issues, and for the recently diagnosed (and families)

Reply
 
Thread Tools Display Modes
Old 09-03-16, 12:35 PM   #1
sammie
Approved Member
 
Join Date: Nov 2015
Location: redbridge
Posts: 24
Default misdiagnosis

I cant believe it in November I was told I was in 1st stages of hd then went to a appointment and dr told me I'm non symptomatic I dunno what to think coz I see the symptoms I still in shock the mistake was made
sammie is offline   Reply With Quote
Old 09-03-16, 05:14 PM   #2
Gabby
Approved Member
 
Join Date: Jan 2015
Location: Berkshire
Posts: 351
Default Re: misdiagnosis

Quote:
Originally Posted by sammie View Post
I cant believe it in November I was told I was in 1st stages of hd then went to a appointment and dr told me I'm non symptomatic I dunno what to think coz I see the symptoms I still in shock the mistake was made
How awful for you Sammie you don't know where you are .. Have you had genetic testing ? Who told you you were in 1st stage and who told you , you are non symptomatic ?

Gabby x
Gabby is offline   Reply With Quote
Old 09-03-16, 06:10 PM   #3
Allan
Approved Member
 
Allan's Avatar
 
Join Date: Sep 2012
Location: Hastings, East Sussex, UK
Posts: 1,126
Default Re: misdiagnosis

.
Hi Sammie

It all seems very upsetting and confusing at the mo. Going back through your posts just so that I get it right:

1. HD has been known in your family for a couple of generations
2. Your Mum is in the late stages of HD and is cared for by your Nan
3. You had the genetic test [ie blood taken] last October\November
4. Before your result a specialist said they were worried that you were showing first signs
5. You have a mental health problem
6. You carried out the physical tests
7. You received your result in the middle of November
8. You have 2 daughters
9. One of your older brothers has HD and your boyfriend\partner has just been diagnosed with Cystic Fibrosis
10. Your brother has just be moved from St. Andrews, Northampton [specialist HD care] back to a local hospital\care home [?] in Goodmayes, Essex with no knowledge of HD.

Can I ask which hospital you go to and who is the Neurologist that you see?

Which "doctor" told you that you are Non-Symptomatic - your GP or the Neurologist at the same hospital or somewhere else?

I'm going to continue the HD diagnosis confusion in my next post - when I get it right.


.
__________________
New Day; New Outlook; New Challenges; New Possibilities; New Outcomes; New Successes
Allan is offline   Reply With Quote
Old 09-03-16, 08:18 PM   #4
sammie
Approved Member
 
Join Date: Nov 2015
Location: redbridge
Posts: 24
Default Re: misdiagnosis

Quote:
Originally Posted by Allan View Post
.
Hi Sammie

It all seems very upsetting and confusing at the mo. Going back through your posts just so that I get it right:

1. HD has been known in your family for a couple of generations
2. Your Mum is in the late stages of HD and is cared for by your Nan
3. You had the genetic test [ie blood taken] last October\November
4. Before your result a specialist said they were worried that you were showing first signs
5. You have a mental health problem
6. You carried out the physical tests
7. You received your result in the middle of November
8. You have 2 daughters
9. One of your older brothers has HD and your boyfriend\partner has just been diagnosed with Cystic Fibrosis
10. Your brother has just be moved from St. Andrews, Northampton [specialist HD care] back to a local hospital\care home [?] in Goodmayes, Essex with no knowledge of HD.

Can I ask which hospital you go to and who is the Neurologist that you see?

Which "doctor" told you that you are Non-Symptomatic - your GP or the Neurologist at the same hospital or somewhere else?

I'm going to continue the HD diagnosis confusion in my next post - when I get it right.


.
I got to queens square i have only met dr rosser and tabrezi it was tabrezi that explained i have hd and will get the symptoms eventually but not yet thank you all
sammie is offline   Reply With Quote
Old 10-03-16, 08:06 PM   #5
Allan
Approved Member
 
Allan's Avatar
 
Join Date: Sep 2012
Location: Hastings, East Sussex, UK
Posts: 1,126
Default Re: misdiagnosis

Quote:
Originally Posted by sammie View Post
I got to queens square i have only met dr rosser and tabrezi it was tabrezi that explained i have hd and will get the symptoms eventually but not yet thank you all
Hi Sammie

It seems that what you were told by Professor Tabrezi was spot on for someone with known family history - after completing the tests with her. Then Dr. Rosser [Geneticist] explained the procedure for the Genetics test.

If there is unknown or no family history then different procedures or a different route is often taken. Also, some specialists will not diagnose HD if there is no movement disorder even though the CAG repeat count is above 39 and mental health issues are present.

A diagnosis of HD is usually based on your answers to questions, a review of your family medical history, a physical exam and a neurological exam with questions & answers. The Neurologist will ask you questions and conduct relatively simple tests to judge:
  • Your Motor symptoms: Reflexes; Muscle strength; Muscle tone; Coordination; Balance; Gait
  • Your Sensory symptoms: Sense of touch; Vision and eye movement; Hearing
  • Psychiatric symptoms: Mental status; Mood [Depression, Anxiety, Apathy, etc.]

The Neurologist may also perform standardised tests to assess: Memory; Reasoning; Mental agility; Language performance; Spatial reasoning, etc.

Brain imaging: Your Neurologist could also ask for brain-imaging tests to assess the structure or function of your brain at the present time. The imaging technologies may include MRI, which show detailed cross-sectional and 3-D [whole] images of the brain, or CT scan, which shows cross-sectional [flat] images.

These images may reveal structural changes in particular areas of the brain affected by HD, although changes probably won’t be apparent early in the course of the disease. These tests can also be used to rule out other conditions, illnesses or diseases that may be causing your current symptoms.

Genetic counselling and testing: If your symptoms [from the motor, sensory and psychiatric tests] strongly suggest a diagnosis of HD, your Neurologist may recommend a genetic test for the defective huntingtin gene. This test can confirm the diagnosis with a CAG repeat count above 39, and it may be valuable if there's no known family history of Huntington's disease or if no other family member's diagnosis was confirmed with a genetic test.

Before undergoing such a test, a genetic counsellor explains [often over several months] the benefits and drawbacks of learning test results. The genetic counsellor can also answer questions about the inheritance patterns of HD.

Predictive genetic test: A genetic test can be given to someone, over the age of 18, who has a family history of the disease but shows no signs or symptoms. This is called predictive testing. The test result has no treatment benefit, and it doesn't indicate when disease onset will begin or what symptoms are likely to appear first. Post-genetic counselling is recommended whether the result is positive or negative.

The more knowledge you have of the disease, and how to look after your current health and fitness, will help to guide you when symptoms begin to show.

.
__________________
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 01:06 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