Hello everyone. I'm new here. Still unsure if it is actually Huntington's in our family or something else.

I was wondering when your family learned it was HD? Was there another diagnosis in earlier generations?

Here is my story:
My great grandfather was said to have Parkinson's. He died long before I was born, so I don't know much about his history other than that.

My grandmother was diagnosed with multiple sclerosis when she was in her late 30s, then also parkinson's and alzheimers, until she died at 82 years old. She spent probably 10 years in the nursing home just basically a rigid shell of a person. When she died 15 years ago, my aunt refused to get an autopsy, and there were never any genetic tests done. I find it hard to believe that 1 person could have 3 seperate neurological diseases, and no one knows what she really had.

My aunt died this past weekend. She had just turned 58. She had no children, never married. About 12 years ago she became symptomatic. After a few years of going to different Doctors and such, they determined it was probably frontal lobe dementia. Although there was never any genetic testing done.

So far my dad doesn't show any signs, other than maybe some odd behaviors. Although I know he could be asymptomatic until old age, or have a low repeat and not show symptoms. Or maybe he doesn't have HD and I am grasping at straws here.

My dad had 1 cousin that passed away from MS a few years ago. He progressed pretty rapidly, not like the typical relapsing MS.

There is also another cousin who has just found out he has probable MS. Not sure about any other family members. We are not very close with the extended family. My dad and aunt are the only children from my grandmother, and myself and my siblings are the only grandchildren.

I am almost 31, my sister is 35, and we are both showing signs of some type of neurological problem. I also have a brother and sister who show no signs. I've been to a neurologist that said at first he thought I had MS. But then after my MRI he said I didn't and there was nothing wrong and he dismissed me. (despite my horrible neuro exam that had him worried at my first visit!!!)

My regular doctor knows there is something neuro going on with me and has set \up a referral to the University of Michigan neurology department for me. That appointment isn't until July.

Since my aunt had gotten worse, and then passed, and as my sister and I starting having odd symptoms. I've been researching what could possibly be going on in my family. I'm a bit scared because I seem to be getting worse and we don't know what is going on. I also have 3 children, 12, 5, and 3, and worry what I could have passed on to them. And if I am going to be around to see the grow up, etc, etc.

So here I am, reading about Huntington's and it sounds exactly like what my grandma and aunt went through. I was reading it aloud to my sister, and she was like, wow, that is like reading their history. So we are both wanting to get to the bottom of it.

My aunt's caregiver (her best friend) does not want to do genetic testing, but is having an autopsy done. I'm not sure if they can tell from an autopsy if it is HD?

I guess I just want to know if it's possible to have generations go on with the wrong diagnosis without any genetic testing done.

How do I go about getting tested? Do I wait for my appointment in July and ask them to test me?

Thanks for reading this.

Hi Wendy,

It was a fluke that we found out about HD in the family. After being estranged from my ex-husband and his family for about 15 years, we attended the funeral of my ex-sister in law. It was there that my ex mother in law told me she (my SIL) had died from HD and that my kids needed to be tested. My ex husband had hit the roads for parts unknown so he was never tested.

When we were back home and reading about the disease, my youngest son was looking over my shoulder and said, I think I have that Mom. Four years later, he was showing obvious symptoms and tested positive for HD. The neuro tested him for everything else before testing for HD, being "certain" that my son did not have this rare disease. So if you want or need to know there is only one way to be sure and that is to be genetically tested.

Good luck to you.

Carla

My husband's extended family was in denial or not wanting to discuss what the problems were and/or if it could be inherited. They had an uncle in a nursing home, but not diagnosed. His grandfather "was going blind" so fell a lot, but he died early of a heart problem and was never in the later stages. His mom refused to be diagnosed until the symptoms were obvious. Once she was diagnosed, the extended family began facing their possibilities. Past generations didn't have much to go on for diagnoses.

There are many reasons why it is difficult to get testing when HD is a possibility. Primarily because there is no cure at this point and because an individual had the right to refuse testing up to a point. Family ramifications are certainly a factor also. People would rather just put their head in the sand. It took me over five years to get family members to agree to testing and at that point they were symptomatic and in mid stage. Most doctors are just not familiar with the disease and also don't like to be told they are missing something. Just don't give up hope because instincts should be addresses by us all.
Nowadays it is so much better to get tested even with early symptoms because appropriate medication can really help with symptoms and people can live normally a long time, verses becoming self destructive especially if there are psychiatric symptoms and early depression.
I think that the best course you have at this point is to discuss your concerns with a social worker who is 'very familiar' with HD' They can be found at a Center of Excellence for HD located in many major cities. At least establish communication with a group familiar with HD.
I wouldn't advise getting tested unless you can do it after setting up all of your insurance etc and also try to get tested anonymously.

Welcome Wendya. That's a lot of history which can be a good thing. As I think about what may help you at this moment I can only say it could be anything. It is possible there is undiagnosed HD and it could be just what the Dr's are saying. I don't blame you for wanting to know. I can't tell you how many misdiagnosed problems I had until I found I had HD. It wasn't until a blood test was done that I found out and we checked symptoms and said "no way". We had no history of any neurological disease in our family. We were very wrong.

From my experience with Dr's you may or may not find one that's agreeable but I would try until I did in order to test if you feel so certain. It's probably the only way to get some relief. The children are probably weighing heavily at this point. HD can present so many ways and be so individual in some cases.

You may want to check out the community drop down. Lot's of things there as well.

Mike

Hi Wendy,

My wife found out about Huntingtons was in her family from her mother. We believe it was passed down from my wifes grandmother but due to her early passing it wasn't picked up until my mother in law showed symptoms. Even then she was misdiagnosed so we weren't sure what she had until 1992. My wife has been showing symptoms since her early 30's she is now 38. Getting tested isn't an easy decision as there is no cure and if you have children this will weigh in on your decision. My wife was tested at 33 years of age. She decided to get tested to confirm that her involuntary movements were due to Huntingtons. Her path to being tested wasn't an easy one. She had to attend to several months of counselling to determine her state of mind. Then when the doctor was certain she was ready he ordered the blood test.

All the best

We found out when my son was very young and his grandfather was having a lot of problems around age 70+. There was no know history before that. It's interesting because he had been to a neurologist several time who never suspected. His own primary doctor also never mentioned anything. It was a doctor seeing him for something unrelated that first mentioned HD could be his problems.

Hey Wendy, sorry to hear about your struggles. HD was a mystery in my family too for awhile. I am pretty sure, as long as HD had progressed into later stages, that they can tell from an autopsy if it was HD. The brain is quite damaged from HD. I know my sis's MRI came back normal even when sh was symptomatic.

I hope it is not HD for your family. I, personally, would wait to see your Neuro in Ann Arbor before testing. Although any doctor can order the test, they shouldn't without counseling etc... My sis's general doctor didn't know the first thing about HD and had her tested. It was a bad move because she could have used the counseling etc.... It hit her very hard. (even though she was having issues, it's just a big terrible reality pill; she was 33 then 36 now).

I live in MI too and my sis sees a nuero in Ann Arbor. Curious, are you going to part of the hospital called the Geriatric and Movement Disorders? That is where they have neuros that work routinely with HD patients. My sis's neuro is very helpful and compassionate.

Are you anywhere around the Flint area? There are some good support groups that could provide you with some information if you are interested...

Thank you for the replies and advice. What a wonderful forum you have here!

I did find out the medical examiner knew my aunt personally, and since my aunt had helped her in the past, she is doing the autopsy free of charge. She told my parents she is going to do her best to figure it out and get to the bottom of this. So hopefully this will be a good starting point and let us know if it is or is not possible.

I think I am going to try to wait until July for my appointment and see what comes from that. Although it is driving me crazy wondering what is going on with me. Nothing I can do at this point except try to live healthy, I suppose.

Bluedaisy, what a small world! I am actually in the flint area. So far my appointment is scheduled for general neurology since my regular dr doesn't really know what is going on with me. She doesn't think it's MS, but she told me, I'm not a neurologist so I can't even begin to figure out what it is, I'll let the experts do that. But in the meantime she is helping me out. She's given me prescriptions for zoloft, vicodin (for the kidney stones I get, and also for the muscle cramps/pain that I get lately), and a muscle relaxer that is supposed to help with my muscle twitches so I can get to sleep at night. It helps a tiny bit, but not a lot.

Anyway, I'm guessing that once I go to general neurology, they will direct me in whichever direction they think I need.

In answer to one of the original questions, yes, there are some findings during an autopsy which will point toward HD being the cause of your aunt's death. The physical and structural changes in the brain are much different for HD versus MS. With HD, you will see widening of the ventricles and shrinking of particular structures of the brain. These physical changes are much different from the changes you will see in MS or Alzheimer's.

Though this is the case, the ONLY way to confirm whether changes are due to HD is the definitive genetic test.

Good luck to your family,
Patty