We begged my MIL to get tested 13 years ago, because there is a very strong family history. Her brothers and sister (who passed away last Jan) all tested positive. Her doctor told her since she didn’t have signs and she is passed the age, she doesn’t have it. Since we found out more about HD and cag score we urged her to find out her score and hoping for >24. My MIL also suffered from extreme depression and is very introverted. It’s very difficult at times trying to talk with her, but she finally did take the steps to get tested and she has HD. Her cag is 40. The reason for this post is I would like to know what the normal procedures are after a person receives their results. Does this person receive any paper work or steps to follow for treatment? I am asking because my MIL said she received no paper, no information from her doctor of next steps. The only thing she said is her doctor doesn't understand why she doesn't show signs. My husband and SIL are trying to find more information from her. They want to see the results and any paper work she received, but she is being very vague on the details. It could be her depression, but this information needs to be shared. We have two boys and my SIL has two children herself. If anyone can help explain the process after they received their results it would be greatly appreciated. (i.e did you receive papers showing your results, next steps, follow up with primary care or neurologist..etc.) Any information would help. Thank You!

My FIL had about the same CAG count and he lived to be about 80. Usually the lower the CAG, the better chance of late onset. There really is no treatment, unless she has symptoms. An example would be there is medication that sometimes helps chorea. And in the advanced stages there may be suggestions to help with daily living problems such as ways to help someone with swallowing/eating issues. But for now she should just live her life and enjoy herself. There are some people who believe in supplements. Type that into the search area here and you can learn more about it. Is she on an antidepressant? SSRI's have been found to be helpful often times, but everyone is different. It would be nice if she could get the depression under good control so she has a happier life. The low CAG could possibly mean that if your husband inherited the gene, hopefully it would not have expanded much (it usually doesn't if from the mother). But the gene can expand, so just because a parent had a certain number, doesn't mean your husband will have the exact same number. Keep educating yourself to be prepared for what may come. There was no "process" after we received results. It probably would be good if we were under the care of a neurologist and your MIL might want to consider that if she can find a knowledgable one. As Steve mentioned earlier on another post, most primary doctors don't know much about HD and it seems your MIL's doctor is in that catagory.



Edited 1 time(s). Last edit at 02/02/2013 02:18PM by eve.

She is not on any SSRI and she needs to be. She said was seen by a neurologist during this process and at this point we don't know if she is telling the truth. I'm just wondering if a print out of the results is given to the patient. I still feel she is keeping some information from her family and I think our next step is speaking to her doctor.

There is always a written summary of the results (from the testing agency) that gives both CAG counts. Her doctor should have that. Most doctors won't recommend any preventative treatment until a "gold standard" clinical trial has been performed. As Eve said, you can learn more about prevention from this community.

My CAG is also 40 and I'm symptom free at age 66. You can read my story at [www.ruledomain.com] My supplement regimen has changed a little since that was written. If you can't find it searching this site, I'll repost it.

Will

Sara, I was diagnosed just over a year ago with a CAG of 36. Somewhat low but symptomatic. Just as Will said there is a related article if you want to know more.

I receivecounselingng during my follow up appointment and much was assumed since both my parents are deceased. There wasn't much in the way of information. MNeurologistst copied some things for me and we discussed slow progression. Try a search for slow progression and it should turn up more.

If you don't mind sharing I would be interested in your FIL's age of onset.

Mike

Hi Will - I have a question about a statement you made -
"There is always a written summary of the results (from the testing agency) that gives both CAG counts."
Can you explain what you mean by "both CAG counts"

Eve - I am also intested in knowing your FILs age of onset..

Sara, there are two copies of the huntingtin protein gene. Each gene has a polyglutamine stretch, a section where the code for glutamine - CAG - is repeated numerous times. Most people have around 20 repeats but in some the count is expanded to the point where the protein becomes abnormal and causes HD. If you have genetic testing for HD, then two CAG counts will be reported, one for each gene.

My FIL's symptoms were very subtle. He didn't really have chorea as you often see in videos. His was more like he was fidgiting so everyone thought he was nervous. I didn't know him when he was young, but apparently he was a very good natured, easy going guy most of his life, but he became more hotheaded as he got older. Probably this was a soft sign of the disease progression. When I first started dating my husband, I think my FIL was probably close to 70. At that time, my husband mentioned that his dad wasn't acting like himself. I met him and didn't notice anything unusual. He seemed very nice, but the only thing I found out was that he could have a bit of a temper. When he would have 1 alcoholic drink, it was like he had had several. In his mid to late 70's he started to have problems walking, but everyone thought that was due to war injuries and arthritis. He went to many doctors about this including a neurologist several times. No one ever suspected HD especially since it wasn't in the family. Finally, probably about 2 years before his death, a rheumatologist suggested testing for HD. We got the results and then we saw a neurologist who was familiar with HD. It is still hard for everyone to believe including his wife who thinks it was a testing error. He quickly went down hill as he started to have eating problems and talking problems. He seemed to be pretty much mentally aware even towards the end, although he couldn't talk then. He basically stopped eating and lost control of his toiletting. He wasn't bedridden for very long. My MIL and husband took care of him at his home until he passed.
Also, I think I could answer your question to Will asking him about "both CAG counts". I believe he was referring to the CAG/gene from the mother is one and the gene from the father is the other. That's why a person's chance of getting the disease is 50% if only one parent has the gene. If both parents had the gene it would be something like 100%. But there was an article talking about how the "normal" CAG might have some influence on age of onset.



Edited 1 time(s). Last edit at 02/03/2013 08AM by eve.

Oppps, I guess Marsha already answered it while I was typing my long-winded reply.

hey everyone!

Sara- let me first say, Im so sorry to hear about your news and i wish you all the best.

however i find elements of this thread mildly toubling.

Here's the thing: you guys say you urged your MIL to get tested, although she has no symptoms (other than depression). I think this is complicated, but Ill go there with you because perhaps her adult children would like to know their risk level. Still, it really should be an adult's choice whether to get tested or not, because, as you will find out, there really is no treatment, especially if there are no symptoms.

Also, you say you NEED to see this paperwork. Im not so sure you actually do. Your MIL has a right to her privacy, and now you know that your husband is 50% at risk, but thats kinda all the lab can tell you.. Unfortunately, for the asymptomatic there is really no treatment that a DOCTOR would suggest. Some of us here at lighthouse would probably suggest some supplements. We may also suggest you gently encourage treatment for the depression.

I guess what Im saying is this:

Im at risk, and I dont want to lose my own privacy, so I can guess how your MIL feels. Not good. Please support her and love her even if you question her decisions. They are, for now, hers to make.

Secondly, on the issue of her depression. My husband's father, and probably other relatives, would probably have done with some SSRI treatment. But they chose not to. They were functional, although did drink more than I, at times, would approve of. In the end, when my FIL (again no HD, etc) got sick from cancer, it was hard to watch him make choices that were against his medical interests, however, now in retrospect, im glad he lived his life the way he saw fit. He wasnt harming anyone, and wine was a big piece of what he enjoyed. AT the time, again, I would wonder if we should intervene, etc, but it was my FIL's choice, and after a few discussions, we decided to stop intervening, start supporting, and let him do as he pleased. He was pretty functional for a good long time.

Its hard when we see people in our lives not acting they way we would like. But it is their choice, as long as they remain safe and relatively functional. I know you want the best for your MIL and your husband, but I urge you to step back and make sure you are making these requests out of love and sensitivity to their feelings as well.

I hope you dont think this is too critical. Being at risk has really opened up my mind in terms of the way we can sometimes objectify the 'sick' and trample over their rights to live the way they/we want to. we will all, one day, depend on others, and I always try to remember how I would like to be treated in that situation.

Again, this is said with love and respect to your situation, which i know from my own experience is basically as painful as it comes.

My dad's cag count is 41, and he is 66 and in perfect health, btw. works full time at a very challenging job, no physical symptoms, and no depression. before we even knew about hd, he has eaten a handful of blueberries every day and taken omega 3 - for like 20 years.

Noreaster, I think you said some very wise things that needed to be said! I'm not a pHD, but I totally agree with your opinions and observations. Thanks for your wise input.