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Adrenoleukodystrophy (ALD) Online Support Group

New diagnosis


#1

My son was diagnosed 3 days ago 12/16/15. We are still deciding what to do, where to go etc? How do we find out how advanced this disease is. My son does not show many of the symptoms i've read about. He did have a major seizure the week of thanksgiving that lasted 1 1/2 hours before the doctors decided to intubate and put on breathing machine. He also has become more hyper and tougher to deal with at home the last 2 years and his grades fell off the chart. went from honor roll to d's and f's. mostly F's. But speech, vision, appetite, motor skills all seem fine. He is shooting basketball now. What is going to be the best signal or way for us to see how advanced he is. We are meeting with genetics in two days, but i'm not really sure what that is going to tell us. We are considering going to Pittsburgh for options on how to move forward

thanks


#2

Hello, tigermike

It's a difficult time, just after diagnosis and right up against a holiday period. I'm sorry that you have not yet had any response to your post. Once the holidays are behind us, I'm guessing that you will get some discussion going.

Wishing you and your family a happy holiday season!

Seenie from ModSupport, on behalf of everyone here at ALD.


#3

An MRI is the best way to see what is going on. You should have it done as soon as possible. The doctors at Kennedy Krieger and University of MInnesota will give you a second opinion free of charge. They have lots of experience and will know what the best course of action is. I'm really sorry to hear about your son.


#4

I thought I replied, but I don’t see it. In case it doubles, if you have any questions feel free to text me at 5857700440. I highly suggest dr Raymond in Minnesota, or Boston. They will get you in quickly.


#5

My son also has ALD. He was diagnosed at age 29 and is now 31. He has been going downhill quickly. He now has dementia and complete confusion. Unable to use the bathroom, has to be bathed, shaved, etc. Been to genetics doctor in NYC. Nothing they can do for him. Also had a seizure in October that last 1/2 hour and was taken to NYC and put on breathing machine. Has had various MRI's and blood work but he is to old and to far advanced for any type of treatment, i.e. lorenzos oil or bone marrow transplant.

When we were told how he would deteriorate after being diagnosed, we didnt want to believe it, but it has happened.

Right now we are dealing with his memory loss, incontinent and lastly he verbal abuse of me, my wife and others. The cursing is non stop all day. Has to be helped in every day normal functions.

Hope you have better luck with your son.


#6

yes.we went to unit of minnesota. think we will move forward with BMT and hope for the best


#7

thanks. we went to univ of minnesota. I think we will move forward with BMT and hope for the best. don't really know what else to do.


#8

sorry to hear. Yes, my 13 year old had a tendacy to curse at his mom and I. we are moving forward with a BMT. Don't really know what else to do, so we will just pray and hope for the best possible outcome. Not even sure what that is, though.

what a horrible disease


#9

Hello and so very sorry to hear about your son. I see you are heading for BMT - glad that you have this as an option. I will keep you, your boy and entire family in prayer. We did not have this option for my son. If you have not already consulted with Dr. Gerald Raymond, now at U of Minn, he was extremely helpful to us when my son was sick.

God bless you and good luck with the BMT.


#10

I have 2 boys - now 18 and 16 who both underwent BMT in 2007. They were both asymptomatic, but with Loe's scores of 2 and 6 and were on Lorenzo's Oil for 3 months. BMT was the best decision we made. They are both healthy and happy with no symptoms apart from Addison's.

No doubt we were lucky as they were diagnosed early. BMT has risks but for us the risks were worth taking as the alternative was to let the disease run it's course.


#11

Tigermike, your discussion was a bit slow to gather momentum, but I see that our members have responded to you. This is a wonderfully supportive group, even if it is a bit quiet here from time to time.

Seenie from Moderator Support


#12

Sorry for the late reply - I hope you found some answers. An MRI done with contrast will give the doctors a sense of how progressed the ALD is. Your son will be given a score - and this helps parents decide what treatment options to pursue. the University of Minnesota has amazing physicians who are very familiar with this and can read your son's films and help you. Reach out to Dr. Gerry Raymond or Dr. Wes Miller there. Additionally David Cry who is the head of the ALD Foundation can answer many questions and help guide you. His info is below:

David A. Cry

Chief Executive Officer

The Adrenoleukodystrophy Foundation

(985) ■■■■■■■■

http://www.aldfoundation.org

Best of luck - this is a tough tough road we are on.

Jenna


#13

Feel free to text me and I can send you a list of Ald specialist contact info. Time is not on your side, and you need to move quickly. Treatment options only work in a short window of time. (585)■■■■■■■■.