Hello All,
I am new here and obviously need the the support of others as will my wife. My hat is off to all of you whether you, a friend or a family member has this disease.

I was told on Friday I was positive for Huntington's and after reading I am not sure it is my problem. Perhaps this is normal. If you will bear with me I will give you my history. Your feedback would be so appreciated. I will not see my DR until next week when we will sit and discuss all of this. I was told he felt that I was experiencing Huntingtons at a late onset of 53 probably due to my lower cag of 36 and a fall may have precipitated it about 2 years ago. My family cannot remember anyone who had any similar symptoms as far back as my grandparents. My Father died at 57 from lung cancer, my Mother at 93 from ruptured intestine and was very active for her age although in a nursing home. Grandparents passed around 68 from strokes but otherwise known to be mostly healthy individuals.

A little over two years ago I fell from a ladder striking my head and becoming unconscious for a short period. Shook it off and eventually went on. In the mean time, I began seeing things not there in my peripheral vision and after a couple of months numerous ocular migranes. At 6 months I literally fell ill with severe spinning vertigo, nausea, vomitting. This occured 10 or more times in the next year. During this time I developed mild cognitve problems, tinnitus, fullness in ears, hearing difficulty, constant vertigo, fatigue, problems reading and tracking, light sensitivity, balance became pretty bad although it was worse in stores where there was commercial lighting was as well as croweded areas. Sensitivity to sound evolved into jerking motions to live music as an example. I have occassional tremors while doing things. Depression was also a factor since I was fighting to stay productive and knew I wouldn't be able to continue as I had. This I attribute to situational depression as I lost a sister in December 2010. I did overcome this depression. Had to leave work on medical as a result and I am still not able to work. I have good days (for me) and bad. Inclement weather makes me feel and function better. Diagnosed with Meniere's, BPPV, vertigo and a couple of misdiagnosed things that were later ruled out. Three weeks ago an incidental finding discovered an aneurysm but I was told it had nothing to do with the rest. I will have surgery for this next week. It was at this same time I saw a movement disorder Dr at Mayo in Jacksonville and he suggested the Genetic testing. Three weeks later I got the results.

After the long intro I am not sure at cag 36 I have the disease and from reading it seems very much borderline. I was told the "ear" symptoms may be something else. I do trust my Dr especially with the credentials he has but I must question this diagnosis. I have informed my family and my two sons. Can someone share with me your thoughts. I did not expect a diagnosis that would see me looking at a shortened life and especially with the way it progesses. I know nothing about its progression or what or when to expect change if any.

Thanks you,
Mike

I'm having a hard time believing you are symptomatic for HD also concerning your CAG count, however I surely am no expert.. we'll let Marsha come in when she sees this and talk to you. I'll bet your thinking now that you should have gone to the dr's right away when you fell off that ladder huh? WOW I'm sorry you've been through all of this! My parents have gone to Mayo multiple times and they liked it, my brother not so. I wish you all the luck in the world with getting to the bottom of your problems and good health. Pat

Welcome, In your shoes I'd be questioning an HD diagnosis, also. Have you seen an actual HD specialist? It certainly sounds like there are some neurological issues of some sort, maybe post-concussion, but not classical HD, but I'm NOT a neurologist.

Hi Mike, Welcome to the Lighthouse. I'm glad you found us but sorry for the reason you are here.

It is entirely possible to have Huntington's disease with a 36 CAG count. It could have become manifest when you fell off the ladder and hit your head. Your brain cells are vulnerable. With your CAG count, you have less energy in your cells than normal and you also have less BDNF (brain derived neurotrophic factor, a neuroprotective protein). The fall could have caused more damage to you than to someone else who does not have the expanded CAG count. HD doesn't explain all of your symptoms but there must be some symptoms that are characteristic of HD that caused your doctor to order the genetic test.

With an abnormal but low count, I don't think you should panic. You may have a very slow progression. Talk to your doctor about things you can do to stay healthy. I am not a doctor but based on the literature about HD and the brain and healthy aging, most people here are exercising to fitness and eating a good Mediterranean diet rich in Omega 3 fatty acids and antioxidant rich fruits and vegetables. There are potential treatments in clinical trials right now and we're feeling hopeful about the future. It's certainly scary to be diagnosed with HD, but you can fight back.

Thank you both so much......

Yes, I had no idea mrspatwolf. Thank you for you support and whether this pans out or not I now see what a terrible illness this is. My heart goes out to everyone touched by this.

Paulabhouck, thank you as well. Yes, after being diagnosed with so many things, having neurotolotist with some very good credentials put their hands up and tell me they don't know what's wrong got very discouraging. The neurologist was a gait movement, gait / parkison specialist. My gait is very erratic, my balance horrible especially where there is multiple visual inputs, but it varies. He seemed to put a lot of stock in depression which without my events was like anyone else. Also my disire to smoke cigars and have a brew seemed to fit his pattern as well as some problems with my vision. After being misdiagnosed with Supreiror Canal Dehiscence, my vestibular therapist noticed I had neurological and vestibular symptoms and recommended going to Mayo. That is when he wondered about post concussive syndrome. The Otologist at Mayo suggested I have damaged my vestibular system in the fall for which nothing could be done. From there I went to Neurology. I must point out I am not dissatisfied with them, perhaps the diagnosis is just off base and something in the communication was missed.

Thank you so much....this makes me feel a bit better. The Dr told me to educate myself before we talked and bring my wife. That is what I am trying to do and your help is wonderful.....

Mike

I see we both posted at the same time. I suspect you are not going to be happy with me.

There's an impairment of eye movement that is very characteristic of HD. I wouldn't be surprised if that is what the neurologist saw.



Edited 1 time(s). Last edit at 01/09/2012 01:48PM by Marsha.

Thank you, Thank you. Marsha, I'll be honest. I'm scared at this point for myself but mostly my family. I've seen some of the stories and don't want to burden them or be remembered that way.

I did notice we posted at the same time and after coming back again read your other message and no I'm not upset......

There have been visual problems, tracking I think as well as blurred and shadowy vision. The only thing I know about my cognitive testing is that I have slow mental processing and a ?line convergance issue?

The Neurologist pointed out the fall (not a lot of detail at this time). I can't help but wonder if they could they be wrong. I don't know anything about the disease and if it's true I will fight back. It's reassuring to hear it can be a slow progression, but is there a way to know? Can you folks help me with questions that I might ask when I return nex week? With so many things going on with me that are outside my reading on HD there has to be more to it. These symptoms fit so many different neurological and vestibular problems. I guess I want to be in denial at this point. I need more facts to be convinced. In the short time I've had to think about it, I'm wondering if it could be years before they really know. I didn't start with depression, I have actually become more chilled most of the time although I've had the temper in the past.

I will keep in touch this week. Next week I have surgery at Mayo for the aneurysm and I'll post again as soon as I talk with the specialist about HD. He set me up with a Psychiatrist consult as well.

Ideas for questions to take would certainly be appreciated.

Thanks,
Mike



Edited 1 time(s). Last edit at 01/09/2012 02:24PM by mikee.

Here's the thing. You don't want to be in denial. Denial is the biggest problem in HD in my opinion. So many of the symptoms can be treated and a good quality of life maintained for a long period of time but sometimes this doesn't happen because a person is in such denial that they refuse to believe their loved ones that they are having symptoms. I'm not saying that you should believe that you are terribly ill right now or are going to be terribly ill. I'm saying that you can't let this disease get ahead of you by ignoring it or not dealing with it. If you trust your loved ones, work with them. I think I can speak for those of us who are or have been caregivers when I say that no one will care if you can't do the things you used to do (no more getting up on ladders, hire someone to clean out the gutters), no one will care if they have to remind you about things that have slipped your mind. We are all getting older and none of us are as sharp or as fit as we used to be. At 53 you already know that! What people do care about is irrational anger and having to walk on eggs all the time. If you find yourself noticing that everyone in your family has become very irritating, not to mention friends, the neighbors, and cashiers and bank tellers, go get medication. Honestly, I don't think you need to worry about being a burden or being remembered for HD symptoms, just work together as a family with the doctor People will go on loving you.

I would talk to the doctor about disability. Regardless of which symptoms are caused by the fall and which by Huntington's Disease you now have a diagnosis that will qualify you for disability. I would ask the doctor if it's time to apply. (we have some good tips on site from Phil Hardt who has HD, a count of 39 and has been living a wonderful and productive life since he was first diagnosed, more than 10 years ago.)

Adult Huntington's always progresses slowly. People live 15-25 years after diagnosis.

Would you like me to explain the disease? Do you have any questions I can answer?

Yes Marsha I would. I don't really seem to be any worse than I was a year ago (I think).

As I am skeptical about my diagnosis, I don't deny it may be a reality. Knowing the longivity is not what I expected in life but we aren't gauranteed anything.

I have lots of questions. When I go to my Neurologist I would like to be as informed as possible. As I said before, if anyone can think of questions to ask it would be so helpful. Hopefully my wife will sign up and ask as well. She has been great throughout this and I hope it continues. It sounds like a long road for all of us.

I recently got approved for SSDI based on my other symptoms and manifestations. Thankfully I had taken ST and LTD through work and that is what got us through. I haven't been able to work since winter of 2010.

Thanks,
Mike



Edited 1 time(s). Last edit at 01/10/2012 08:00AM by mikee.

Marsha Wrote:
-------------------------------------------------------
> Would you like me to explain the disease? Do you
> have any questions I can answer?

You were probably busy judging from all of your activites. I would like more informtion if you are so willing. Would it be better in a PM?

Thanks,
Mike

I thought that you just wanted some input about questions for the doctor. I'm happy to provide more information about the disease.

Huntington's disease results from a stutter in the coding for the huntingtin's protein. Huntingtin's is an old protein present even in yeast. We know it is critical for development because mice engineered to lack it die before being born. It also has a number of functions in the adult brain but research isn't clear on what they are. There is a section of this gene which codes for glutamine. This code is C-A-G (for cystosine, adenine, and guanine). The number of times that the CAG code repeats varies by individual but most people have around 20 repeats. If the repeat number is too high (40 and above) the protein causes certain challenges for the cell and for communication in the brain.

The brain has a lot of defense mechanisms but over time they become less efficient and the cells are overwhelmed by the problems caused by the mutated protein. Symptoms are caused by cell dysfunction and cell death. All cells have the huntingtin's protein but the HD protein causes most of the problems in the brain because those cells are long living, they aren't replaced as in other parts of the body or at least not to any significant extent. Both huntington's genes express themselves. It's not like eye color where one is dominant and is expressed and one is silent. If you have a normal huntingtin's gene and an HD gene, both will express themselves so you have normal and abnormal protein being made. Only one HD gene is enough to cause the disease however.

Those with repeats in the 36-39 may or may not develop HD within their lifetime. Most researchers think that this is also the HD gene and that if people lived long enough, say 100 or older that everyone in this category would develop the disease.

There are dozens of changes in the brain caused by HD. Some are pathological, some are compensatory and some are not significant either way. Here are some of the major pathologies. The protein fragments and those fragments get into the nucleus of the cell where they don't belong and they interfere with gene transcription. Some proteins are not made in the quantities needed for the cell to do its work while some are overexpressed. The neuroprotective neurotrophic factor BDNF (brain derived neurotrophic factor) is reduced in HD brains so they are more vulnerable. The mitochondria, the cells energy factories don't work properly in HD. The CAG counts correlate precisely and negatively with cellular energy. The higher the CAG counts in your two genes, the less cellular energy is available. So if I have a count of 19 and 20 and my friend has a count of 20 and 21, my friend will have less cellular energy. That's not a problem though until we reach the 40 threshold.

There are a number of potential treatments in the pipeline. One treatment strategy would be a combination of drugs to address the major pathologies. Another would be to reduce the expression of the disease gene so that the cell would not be overwhelmed.

No other animal gets HD naturally. It has been speculated that HD confers an evolutionary advantage in that it makes people more able to survive famines without brain damage.

Marsha Wrote:
-------------------------------------------------------
> I thought that you just wanted some input about
> questions for the doctor. I'm happy to provide
> more information about the disease.
>
The number of
> times that the CAG code repeats varies by
> individual but most people have around 20 repeats.
> If the repeat number is too high (40 and above)
> the protein causes certain challenges for the cell
> and for communication in the brain.
>
>
> Those with repeats in the 36-39 may or may not
> develop HD within their lifetime. Most
> researchers think that this is also the HD gene
> and that if people lived long enough, say 100 or
> older that everyone in this category would develop
> the disease.
>
So if I have
> a count of 19 and 20 and my friend has a count of
> 20 and 21, my friend will have less cellular
> energy. That's not a problem though until we
> reach the 40 threshold.
>

Thanks Marsha. Great information. I pulled a few lines from your response and have a couple of questions.

Since my cag count is 36, I assume there is a high probability if passed to my children they will of course have a higher count than I.

If at 36 that seems to be barely in the threshold of coming down with HD. Could vestibular problems be misdiagnosed as HD since they cross so may of the same barriers.

At 36 it seems there would be a strong likihood that I would not contract the disease until a ripe old age.

Are there other test that can confirm HD. I know some of my symptoms relate to HD but they also relate to vestibular and brain injury. MRI or other things that show deterioration that is definitive.

I have not been gotten any information about relatives that would suggest HD.

I will be on the road the next couple of days as I am going for aneurysm sugery but I will check in. I hope you have the time to respond as I see my Neurologist on Tuesday.

I don't know what questions to ask so if anyone can suggest I will be forever in your debt.

Thanks,
Mike

Here's an article which details the probability of expansion, contraction, or stability of the CAG counts when an HD gene is transmitted by a father. [www.hdlf.org]

[www.hdlf.org]

Huntington's is always diagnosed clinically, based on symptoms, and then confirmed with a gene test. There are characteristic patterns of brain damage associated with HD and the doctor will likely order an MRI but that may not be definitive either since I think in the early stages, it's easier to determine a change from an earlier MRI rather than to identify volume loss in a single MRI. There are some symptoms associated with HD that are not associated with other types of brain damage such as a problem with eye saccades, that's the ability to sweep your eyes smoothly from one side to the other. He'll be looking at those symptoms.

Ask the doctor the same things you are asking me, whether the symptoms could be from brain damage. And if he thinks it is definitely HD, ask if the head injury brought it on and whether he thinks that it will necessarily progress from here.

I think the problem with this testing is the label. I was diagnosed with 42 count. I am in great physical health and have had a lot of stress factors. I spoke with a specialist in Wisconsin that feels 42 maybe questionable and why the MRI is now being introduced to have a better measure. This CAG repeat was introduced in 1993. Not a life time ago. I know live my life like I received a death sentence. I worry about my work, my kids or they're ability to have kids. I took the test because I was convinced I didn't have it. Denial is the least of my issues now. I could really use some.

Mike see a movement specialist. 36 is not a diagnoses. I would be interested in how my mother's sisters would have come in.

mare-

that's exactly what holds me back from testing.. my parent has a cag count of 41, with no symptoms, age 65. i fear that if i unpack the results, my identity will revolve around the disease, should I test positive.

Good to hear from you Nare and Noreaster. I just returned from Mayo Jacksonville where I spent a great deal of time with my Neurologist who specializes in movement/parkinsons. He is heavily involved in global research with others from prominent hospitals. I won't say I am in complete denial, in fact I am less skeptical now than I was. Luckily my psychological issues are manageable at this time. My biggest issues are cognitive, vertigo and balance/movement. He gave me a more promising outlook than I anticipated but in his words only God knows. My cag count means it probably came from my Father since the other Allele was low. Why a cag of 36 surface at 53 instead of 43, why not 83, that probably won't be known.

He agreed that I was disabled from the disease and I will agree with that as will anyone who knows me. I now know I have choices for better health and activity. I have lived in a coccoon for the past year in fear of my disability company. The doctor told me I had to be active, exercise to my ability, avoid stress and be positive. I will see a Physical Medicine Dr. on my next visit. He let me know he will be an advocate which was such a relief.

During my visit I became part of a government funded stem cell project involving Mayo, Johns Hopkins as well as one or two others that I don't recall. My stem cells will (as I understand it) continue for perhaps a lifetime or longer benefiting research into HD, Parkinsons and Alzhiemeres patients. This will in turn benefit my family as well as my children and their children. As Marsha states research is ongoing and promising. This is how we can all help. (In limited exposure, Marsha seems to be a wonderful resource.)

Just by conincidence, my neice was at Mayo this week also for unrelated issues, until now. She has symptoms, different from mine and similar. She had an appointment with my Neuro after I spoke with him and this as he said sheds new light on her undiagnosed symptoms. She was tested and wants to know, not so much for herself but for her family. The doctors have said that the easiest process for everyone in the family tree would be if my two remaining sisters were tested and in turn this would keep others in the family from going through what I have over the past year and one half. They are a bit hesitant, one 70 and the other 78. It is possible that their cag could be below 36 yet it could have multiplied. This would seem to fit my case from my Father as well.

I too felt and still feel somewhat like I have a death sentence. I think it is better to know. I will no longer live in my cocoon. I wil enjoy my good days and try to make the best of the bad. Sometime I feel o.k. for me, other times I feell bad enought for several people.

Good friends and family are a huge help. I even have friends (I'm talking family like) that will even give me grief about some of the things I do. This is taken in the proper context and I give a little back. When my wife called me weeble wobble, when I got one for Christmas, it was funny. They are worried too. When my best bud first heard the diagnosis his comment was "time for a bucket list". We laughed, I cringed a little but it was meant in good taste and taken as such.

I just had brain surgery for an aneurysm this past week. Believe it or not I let HD overshadow the Aneurysm until my Neuro told me to stop my HD focus for now since the aneurysm was immediately life threatening. We all process it differently. I'm still not out of the woods but I catch myself wondering if every move is another sign of HD.

I hope to research things on this site that will be of help in my daily health (which I need). I have glanced over supplements, diets and the like. I think it comes down to do what you can, when you can and enjoy it. I hope to have grandchildren some day. I am confident whatever the outcomes it will be possible to have healthy grandchildren and for now I will live with that thought.

I hope to learn more, do more and help others (with my limited knowledge). This site seems to be great resource and we (and our families) are probably the only ones who best understand "us".

Thanks,
Mike



Edited 2 time(s). Last edit at 01/23/2012 08:18AM by mikee.

Getting a diagnosis of HD is overwhelming. My husband tested positive almost 4 years ago. Its been a roller coaster ride to say the least. You have had a lot to deal with, not only HD, but a brain injury and an aneurysm! I am really glad to hear that you had surgery and seem to be recovering well. My husbands symptoms appeared after having a traumatic brain injury. I have no idea what his cag count is and not sure if I want to know. I do have a lot of hope that there will be a cure in the near future.

JudyF I feel for you folks. It's a roller coaster for sure not only after you know but before anyone puts it all together. I'm sorry you guys are going thuough this but it is what we have been dealt. That's interesting that his came after a head injury also. I think at times I want to know more of what people are going through and what to expect although it seems everyone is different.

Thanks for the encouraging words. I hope for a cure as well.

Take Care,
Mike

Mike, my brother, who passed away about 20 years ago,at the age of 52, became symptomatic after being hit by a car and having major injuries including head trauma. We did not realize that HD was in the family prior to his diagnosis.

mikee - My grandmother died at 84 with huntingtons. She was dancing the week before (she was symtomatic although we did not know it was HD until my mom was diagnosed with CAG 42). Low CAG could very well lead to long/good life. My grandmother died of a stroke.