I feel every situation is different. I've seen a recent post from a mom who wanted to know the status of her daughter and the overwhelming response was that she would be violating her daughter's right to decide. The arguments made sense, but I want to present another case and hear responses. Here is my story: My 5 year old has a gene positive father. We had no idea HD was in the family until my son was a few months old. When he was young, he was diagnosed with autism. His pediatrician doesn't agree with the diagnosis of autism. He has received early education intervention and is high functioning and they say he's bright. He's had some recent behavior problems and the pediatrician feels he has ADHD. We've seen a psychologist who feels he maybe has both ADHD and autism, but isn't sure. The behavior problems were getting worse (violence to others) and medication was prescribed. I was worried about RX'ing a stimulant (because of a case report where the family didn't disclose HD in the family and the doctor RX'ed Ritalin for ADHD and the child had a rapid and irreversible decline in mental and motor capacity and then it was discovered that JHD was the real problem (not ADHD) and once the medication was stopped the symptoms didn't go away and the child had a rapid decline).
I would like to test my son to help figure out just what we are dealing with. I want the proper medication used. I did share the information that his father is gene positive with my son's pediatrician (altho I am paranoid about sharing this and we haven't told anyone else). I understand that testing is very risky insurance wise (I don't want to harm my son or husband), but I know of a lab where they promise to be confidential and the information should remain safe. My son's pediatrician feels I should not pursue testing mainly because HD is not treatable. But if he was gene positive, I feel knowledge can be power. I would see about putting him on some of the neuro-protective supplements. Also I would be actively looking for any treatment breakthroughs and would be able to jump on board if one came through. I also feel it could help me plan if it is JHD. However, I also realize that it's a slippery slope. At what CAG number would you say is the cut off for a parent invading the child's right to test when they are old enough to give legal consent? Is there a magic CAG number where you can say this is adult onset (which a parent probably ethically shouldn't know) versus Juvenile form? Maybe the lab could agree to only tell me if it would be a certain CAG number that would be associated with JHD. I need to think this through very carefully. That's why I decided to post here. Maybe I should consult with a neurologist? It seems there are very strong opinions on this subject, but I think each case should be considered individually. In my mind, my reasons for testing are practical. Although my son has no motor symptoms and the only possible signs of HD are very soft signs, so perhaps I don't have enough "reason" and should put this testing idea on hold? But in my mind it's a huge unanswered question that really bothers me.

Hi Eve and nice to meet you. I'm aware of the thread you are talking about, and seriously, all of your reasons are the right reasons. You want your child to have the right medications for the right illness. Your pediatrician is wrong in saying there is no reason to know. Recently, another lady Sherri, her grandson was displaying possible jhd symptoms too. They did have the child tested, and thankfully it came back negative. When something is not right with a child, and there are possible jhd symptoms, that is always the right reason to test. If it is jhd, it can be made sure that a med that might be appropriate for adhd, but that would not be good for jhd, is not given. Your post was really well thought out, but i think also, you can see that your reasons for wanting to test your child, are the right reasons.

I agree with you, Eve. If he were my child, I would definitely want to know whether it was autism or ADHD or JHD. Even though there is no cure for JHD, the treatment of symptoms would be different and that would be enough for me to feel that it was advisable to know and in my child's best interests.

For a long time it was thought that the CAG threshold for JHD was 60 but there's a French study which reported cases as low as 45 so even though your idea of having the results reported as a JHD count or not a JHD count is a good one, I don't think it would work.

Hello Eve,

I think your case is a little different from the other case that was recently discussed because there's something going on with your son and you want to know what it is. If it was my son, I would want to know if it is JHD (I don't care if it's incurable), but that's just my opinion. I hope with all my heart that that won't be the case for your sone.
Also recently, another case was discussed and they got, after many troubles, to test the child and, happily, he tested negative. So, now his family can look for answers to what is going on with him elsewhere.

Regarding the CAG count, I remember reading on the HDlighthouse that, actually, whereas it was believed that every child who had the juvenile form had a very high count (more than 60 repetitions), it was recently discovered that that's not really the case and that only half of the children have such a high count. The other's were on the adult range. So, CAG count isn't really such a good mesure to determine whether a person will develop the juvenile or the adult form.

Welcome and I really wish the best for your son.

Luz.

Oops! when I finished writing my message (I'm slow in english), Marsha and Barb had told you what I wanted to say...



Edited 1 time(s). Last edit at 11/02/2009 10:38PM by Luz.

I would change doctors because of the attitude. That doctor would have had my son signing. From Reid's other problems of dyspraxia eetc we saw a pediatric psychiatrist and

we saw a pediatric neuro at the Children's hospital in London. This was the dark ages for kids with disabilities and the shrink Dr. MERwyn Fox was writing the disease description for DSM=IV which was variously called clumsy child syndrome by the teachers which only had mild and moderate levels. My son had profound levels, development coordination disorder was extended to include all levels. Once that happened Reid could be diagnosed. It is called dyspraxia in England and Australia. He also has dysgraphia ans dyscalula and he was diagnosed with ADHD of the slow type (he takes 45 minutes to poop, this is SLOW) when he was 16. It was very hard for him dealing with each diability. This is all from a car accident when I was 8 months preg.

MEanwhile the school system interpreted too severe as meaning no problems. If I had known I had HD I would taken Reid out of school and travelled around the world with him



Edited 1 time(s). Last edit at 11/03/2009 09:30AM by dustyblues.

The difference is pretty simple. One person is asking for a test for JHD and possible symptoms. The other person want to test HD. Once a child is having problems that could be jHD due to family history the test should be run. One is for the sake of treatment, and now hopefully being included in trials. One is a medical question the other an ethical one.

I agree with what everyone is telling you Eve. You have a VERY good reason for wanting to test your child. It makes a difference.

I think you're right, Eve - I would DEFINITELY go to a neurologist! And I would ask whether they had ever seen a case of HD, before.

A great number of them have not.......

jl

I can certainly understand your fears and concerns Eve. I also have 2 at-risk children and don't like giving them any unnecessary medications.

After some concerns with my youngest daughter, her Dr. suggested the Feingold Diet.

[www.feingold.org]

We've eliminated all artificial coloring from her diet and the change has been remarkable. It's a difficult adjustment, but once you realize how many products have these artificial colors (foods marketed at children, children?s Tylenol, toothpaste....just to name a few) it becomes easier to spot them.

There are many great articles written about artificial food colorings and ADHD.

I was the biggest skeptic of them all and chose to try the diet out of desperation and concern over ADHD medications. It may or may not work for your situation but knowing how well it helped my daughter, I figure it's worth mentioning.

Chris

I agree with JL on this, get a referral to a Neuro who knows HD and has knowledge or contact with another Neuro who has dealt with JHD. It is not like finding out your child has a cold - although you can give them treatments they don't make your child better, the disease progresses so quickly we didn't get to do all the things we wanted to do.

I didn't want to know, I was too scared to find out but eventually the Drs had to tell me. Talk to a Neuro, get them to check the child out and make a decision based on what they observe. It may take a few visits throughout the year but they can see if the child is showing signs and offer testing if they feel it necessary.

Having been through it twice the reality that your child has it hits like you've been shot, in my case I would rather have been shot than told.

I sincerely hope you get the correct information and the child is not a JHD child - we tried all the treatments possible but still our children became sick so quickly and passed away so quickly we didn't get to do the things we would have liked due to the severity of JHD.

Let us know how things go, I really hope it's not JHD.


Debbie

Thanks to everyone for your opinions and support!!! I really appreciate your replies. We are currently doing a glutten free/casein free diet, but I don't believe there's any change with his behavior or how he's feeling in regard to the diet. I will check out the Feingold diet...thanks so much for that link!
It seems it could be a tricky situation trying to sort out everything going on with my child. What if I get the go-ahead to do the HD test and decide to do it and the CAG comes back positive, but at a lower number like Luz posted about. Then we have to figure out is it juvenile HD, or is it ADHD or is it autsim that is causing his problems? It'd kind of be like I'm back to square one. But I guess it would help me in knowing which medications are to be avoided. I also would be able to jump on board for any clinical trials/treatments. I am just trying to reason through this so thanks for listening! I don't want to make rash decissions and I certainly don't want to cause him any harm.
My son's pediatrician had a valiad point when she asked how would I handle a positive HD test result. She understands the not knowing is driving me nuts, but she thinks the posibility of finding out a positive result would be a worse thing for me to deal with. That would be an interesting thing to discuss if anyone wants to chime in about this. I am trying to explore my feelings of how I would deal with a positive result. I had a difficult time hearing the autism diagnosis, but on the other hand, it has opened doors to getting him help and helping me to know what I'm dealing with and finding effective ways to help him (and myself). But of course getting an HD diagnosis would be a bit different. Maybe the neurologist would help me in the decission. I think the current rational is to not test if there are just soft signs, so maybe I would not have the option to test anyway.
Any comments are welcome. I am grateful for this site!



Edited 1 time(s). Last edit at 11/09/2009 09:50PM by eve.

First off there are no soft signs... the complete disease of autism is "soft sign" in that case and shouldn't ever be diagnosed or treated.

No mom or dad wants to hear their child has a fatal disease. But if a parent themselves is looking to find this out about jHD, that should indicate they have the interest of the child above themselves. Would you or any parent be upset? Of course you would. The fact is there are things a parent might want to choose for a child with jHD that they wouldn't choose for a child with other emotional issues. A lot of parents try very hard and push a child really hard with autism to adapt, not only so childhood goes well but so adulthood does. That is not necessary for a child with jHD depending on their age of diagnosis. The effort for one disease might pay off and the other way it's just cruel to both parent and child.

I know that they have decided a couple of lower CAG kids have had jHD... but I would have to wonder if such profound symptoms occur in a 5 yr old with a cag of 45? I would be tempted to think not. Marsha would have to comment on that. Might you end up with a cloudy diagnosis even with the test? Yes. Might you in particular find out your child does have an even lower CAG like 39 or 40 and it is not likely the cause of behavior? Yes also. But that's not what the spirit of the ethics is about. And you would be one of the very few who would be stuck knowing one possible fate of your 5 yr old when it's 50 or older. But you and the doctor should be worried about your 5 yr old as a 5 yr old.. and 6 and so on. In your case a CAG of 40 is a good thing. And you are worried about your child right now. For me that's good enough. I am sure a doctor doesn't want to change your life sooner than he has to. But that's not the doctor's decision. IMHO

About the CAG count, I just took a look at the article and it was not only a couple of kids that ranged in what used to be considered an adult count. It was almost half of the kids in the study (they studied 29 children). But that half had between 45 and 58 repetitions, wich is not low either. So, Eve, if your child was to test positive with around a 40 count, I guess it would good news. 45 or more and I think JHD should be considered as a probable cause (maybe not the only one, but an inmportant lead) of the problems he's been manifesting.
This was a serious study, Eric, that showed JHD takes, in average 9 years to be diagnosed! With recommendations like your doctor's, Eve, this average won't change and that is, to me, the worst, because children deserve better than that.

About everything else, I agree with Eric.

If you get a low count result that indicates very probably the adult form of HD, it won't be because that's the result you were looking for in the first place. It will be an indesirable and inevitable consequence of your quest for the truth about your son's health at this point in time. I think this will make it easier for you to deal with the news. You will be able to tell your child you didn't want to take his chance away from him to find out for himself. That at the time, you just had no choice. I think he will understand.

It's a hard decition, Eve, and I can feel how painful it's being for you and how badly you want to feel you're making the right decition for your son. It seems like such a solitary process... I really whish you all the strength that it takes to make your decition.

A neuro will test if there is a chance it's JHD. That would be determined somewhat by the time the father was affected. If the father had devastating symptoms in his early adulthood, the possiblity of JHD Is strong.

You have to treat the child, and part of the treatment is to diagnose the illness. You can see a neuro or two and one of them would test if you specified the HD father HAD the disease in their 20's.

The strong opinions on the other thread were based on no symptoms. Just a test to see if the daughter was positive or not, and the father didn't have symptoms before he died of another disease.

This case is a totally different ballgame.

A family needs to know everything that is wrong with a child.Otherwise the child should go to foster care because it is abuse to think only of the parents needs in a comfortable parenting experience. My son was not diagnosed with the bulk of his problems until age 8 to 10 from a car accident when I was pregnant. I lied about HD in the family to his neuro because we were all passing as normal with society and our families.I believe that if the neuros had known that HD was in the family that Reid would have been diagnosed with JHD ( this was before blood tests for HD) and what he has is severe damage to his cerebellum.
A childs disabilities become a tangled knot of confusion when you are trying to actually accomplish anything. But the child legally has the right to know and for each disability to be treated without respect to any other disability. This came about because when often retarded children got pneumonia they were not treated as a form of mercy killing.
My son had 5 diagnosed disabilities and the computer program for the specials needs kids only accepted one disability a child. This glitch went on for 3 years, prevented him from getting the help he needed and had been prescribed already. I hired an educational consultant named Diane Van Denbossche who had experience with LD kids and Hoh/deaf kids. Diane found out about the stupid computer problem and what idiots most of Reid's teachers were and she wrote many of ont gov standards for LD kids. Diane attended Reid's graduation from high school with me and was beside herself with joy.
I also took the school board to Human Rights for not educationing Reid. I did all the work myself I have 4 running feet of legal documents from that case. I read education law to go to sleep at night ( this was the early sleeplessness of early HD of course. It took 4 years but I won, Reid had a TA for his last half year in high school aanhd the upper grand had to review all their services to children with disabilites.
I think that every kid going to school is going have one disability, so to get any attention they will have to have multiple disabilities. There were only 124 kids in the province with as many disabilites as Reid has.
Many of the other kids will have lawyers and it is necessary to get going on diagnoses if it is necessary

Thank you all for your compassionate and wise words. This site is really a treasure. I feel I can't discuss this with anyone since I don't want to jeapordize my child or husband's insurance etc. It's a great comfort knowing I can come here for advice and strength.

Sometimes planning for the future has to wait to take care of the present.