My son had his second neurology appt. today. Found out his blood work he had done to rule out other things besides HD showed elevated liver enzymes, and elevated hemoglobin. My son did not have blood test for HD because he chooses not to have the test. Cognitive tests show decline in receptive vocabulary and recall. The doctor today ordered more bloodwork. He orderedd cerulo plasma level, Hepatitis profile and carnitine levels. He also ordered an MRI of the brain.He doesn't show the symptoms at the doctors office that I see when he is at home, or when he is actually walking without knowing others are watching, or the movements he has when doing chores etc. They see my son for 5 or 10 minutes, they never see what I see. It takes me 2 hours to go to the neurologist. I just question the why of it? Does what I see and feel even matter. If I am right, which I feel I am, what does it matter? There is no cure for HD, I just want my son to be happy. I feel that taking him to these appointments makes him question at the age of 16 if he has the same fate as his father, surely that is scary. Why bring fear to a 16 year old boy? I feel uncertain as to what I want to do after the MRI and blood work? Neurologist wants to see him again in 2 months. Should I continue to take my son to the neurologist for follow ups, or should I just let it alone?

Only you can decide that love.I took my daughter to her paediatrician for 6 years before we finally got to see an HD specialist.During that time she had various blood tests to rule other stuff out.Cognitive and memory tests.Balance tests ect ect.By that point the specialist took one look at her at said 'yes JHD'so to speak.Only the second MRI at aged 15 came back 'highly suspicious'.On the back of that we had her confirmed aged 15 by blood test.She was the same as your son.A 10 minuet appointment and she would be fine.Would he see what I see I used to ask?My daughter by her teens knew she was 'different' to other kids.Had bullying at school and no friends came round at weekends.We kept why she was seeing the doctor a secret whilst she was 9 till about 14 maybe?Like you say why scare the hell out of them and ruin there ignorance.She was in the room with us aged 15 when the doctor told us she had the same as her dad.She burst into tears,so did I (despite already knowing).The doctor left the room for a few mins then came back himself with tears in his eyes.She still cries and so do I some nearly 3 years later.She has answers now though.She knows why she is 'different' and we try now to make the most of everything.You just have to.JHD will happen whether it is 'officially diagnosed' or not.I guess you have to ask yourself if he is sadly confirmed are you better off practically?I mean will you receive benefits/help/respite ect than if he is not?He is old enough now.I think you need to sit down and see what is going on in his head to.At this point his wishes can be heard,if it's left later they may not be.I wish you well whatever you decide love xxxx

Good heavens! I always have had a one hour appt with my neuro. Anyways, you absolutely want to get follow-up on the elevated hemoglobin. When i was diagnosed with hd, they discovered also, at the same time, that my iron levels were high. So they did further blood work, and found out my iron storage was also very high, then more bloodwork, and discovered i have hemochromatosis, which is a genetic disorder, which means, where your body, instead of passing excess iron out of your body, like any other vitamin, does not know how to get rid of iron, and so your body ends up storing the excess iron. So the treatment is phlebotomies, which is taking a pint of blood, every few weeks, until your iron levels are down to normal. Once they are down, you only need it done about once a year. Google hemochromatosis. Too much iron is a poison to your body and your brain. Once my iron levels got down, my hd actually improved a lot. The excess iron can cause liver disease, and other things as well, if not caught in time, this is very important to get this checked out. Also, the excess iron in the brain causes neurological problems, for me, they think thats what brought my hd on so much younger than my dad, even though we have the same cag count. He may not have iron over-load, but the minute you said possible liver problems, and elevated hemoglobin, this caught my attention, so yes, keep him going to the doctor for sure. The bloodwork for sure, if it takes too long to get follow-up from the neuro, get him into your family doctor as soon as possible.

PS The doctor should have also ordered a fasting bloodtest to show how much stored iron he has. Stored iron is not the iron level in your blood, it's how much iron, which is a metal, has accumalted in his body, if any. But with the liver test, im really concerned about this.



Edited 3 time(s). Last edit at 08/13/2010 03:02PM by Barb.

I dunno what I'd do either.

If it were me, and there was any chance it might be something else, I'd take him back. 2 hours or not. You have to rule out something else, because there are about a billion other things it could be.

After that, I'd probably wait for a while. See what happens. Save some money.

If it comes out that he's actually got it, then you have to deal with it. Eventually it will be displaying pronounced symptoms. If it's progressing that rapidly you won't need to test him because they can diagnosis it from the family history and his symptoms.

I personally don't believe that a 16 year old can tell you he doesn't want to test for JHD. I dont think they have the right if that test is necessary to proceed with treatment. He isn't at the age of majority, and only you can decide until he's 18.

At least that's the way I look at it. If he needed an operation and "refused", you could certainly override that decision. My guess is you can test him anyway if you push it with the doc.

I'm sorry, but I didn't take the time to read everyone else's posts, so I hope I am not repeating what they have said.

Try video taping his actions without him knowing. That way, you could show the doctor what is going on. That is what we had to do for our son for another matter and it worked.

Good luck@

Here's another thing to consider. You need to understand the resources available in your state. If he does have the gene and he is already sick, then he will need a lot of care. In my state, if he had JHD, he would qualify for developmental disability since Delaware has adopted a functional definition rather than an IQ definition. If declared developmentally disabled here, he would qualify for a variety of services indefinitely that he would NEVER qualify for if he was diagnosed at 18. In fact, adults diagnosed with neurodegenerative diseases are specifically excluded from a lot of services available to people who are brain damaged in my state! I think that this was done because the assumption was that they would be elderly people with Alzheimer's who would qualify for services provided to the elderly. As a result, there is huge gap in resources for people with neurodegenerative disease who were diagnosed as adults and who are not elderly.

Things may be different in your state, but it's worth looking into.



Edited 2 time(s). Last edit at 08/14/2010 09:15AM by Marsha.