New here, 12 year old son diagnosed with ALD

My son Ryan was diagnosed with ALD after a adrenal crisis following spine surgery in Nov 08. Ryan also has Loeys-Dietz Syndrome, a connective tissue disorder. We did not know about his adrenal issues until we almost lost him after surgery to bottoming out blood pressure due to lack of cortisol.
I am really looking to other parents to talk to, Ryan is the youngest of my 3 boys, I have a 14 and 18 year old also. Ryan will be 13 in May.We are waiting to see the genetic dr to get my blood drawn to see if I am a carrier.
We are waiting to see a Dr at Ma. General Hospital that trained at Kennedy Kreiger to see what Ryan's options are. Right now he has a normal neurological exam, his neuropsych exam is next week. His MRI does have some changes, but the Dr's are not sure if it is from the ALD or the Loeys-Dietz. Due to the other disorder he has blood vessels where he should have white matter and vise vera.
I have been reserching treatment options, according to one Dr his VLCFA are not that high, in fact his C22 is below normal. Ryan takes blood thinners and 2 beta blockers due to his connective tissue disorder and has a artificial aortic valve and aorta.
Ryan has a very good attitude towards this and is determined to fight it and wants a marrow transplant if he is a candidate, but he has also told us where he wants to be buried which is the hardest thing for me to deal with.
I have been researching other options, including the Lorenzo's Oil. I have heard about MucoMyst, would the amino acid N-acytelcystine have the same effect?

Lisa

By Pio
Posted January 29, 2009 at 9:42 am
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i'm a 44 year old man with AMN. You and Ryan are in my prayers. The great news is his normal neurological exam. That's awesome!!!
The bone marrow transplant apparently works but they don't do it unless they see progression in the brain. The other stuff in unproven.
Kennedy Krieger just stopped the Lorenzo's oil study. I was in that for about 3 years.
God bless you.

By sjm
Posted January 29, 2009 at 10:11 am
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Hi Lisa
Can you tell me how the Doctor was able to diagnose your son, was it through the ALD gene? I know that boys with ALD, 99.9% of the time do have high VLCFA. Why did your Dr. think your son's were in the normal range?

By Tonivr
Posted January 29, 2009 at 1:09 pm
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SJM,

According to 2 dr's they could not diagnose ALD just based on his blood work, so he had the DNA testing done. They where not all in the normal range, but not consistant with what they expected.

By Emcee70
Posted January 30, 2009 at 6:18 pm
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Blissboys,
KKI stopped their adult study, not the boys' study, so you should be safe getting your boys in.

Tonivr,
My 6-yr-old has ALD and is in the Lorenzo's Oil study. He's doing fantastically well. Isn't their attitude towards their illness wonderful? We could learn a lot from them. You're in my prayers!

By alsrgnt
Posted February 1, 2009 at 9:16 pm
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I believe your son is waiting to see my neurologist, Dr. Florian Eichler at MGH. Florian trained at KK if I remember correctly. He is phenomenal. I really cannot say enough wonderful things about him. I live in Boston and am always available to meet you, talk or just listen. Small world---I will be thinking of you and your family.

All the Best,
Andrea

By ethansmom3
Posted February 11, 2009 at 10:05 pm
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I am sorry to hear about your son's adrenal crisis. We have raced our son to the ER on several occasions when he would be unable to hold down a stress dose of the Cortef during a virus. Our endocrinologist prescribed solu-cortef to inject him with in the event that he requires a trip to the ER for further care. My husband and I were trained in how to inject him and feel more prepared for the next crisis. My son is now two years post bone marrow transplant from ALD. He had one tiny spot that showed up on an MRI in the corpus callosum area of the brain. We were blessed to have a perfect match with our youngest child. He is doing very well. We had our two year check up this week and the neurologist is pleased and anticipates no further progression. I will keep you in my prayers.

By Tonivr
Posted February 11, 2009 at 10:35 pm
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We saw Dr. Eichler at MGH in Boston today. What a godsend to finally have someone who knows what they are doing with this disorder. As Ryan is unique with his other health problems too, it's hard to know what is from what disease. Dr Eichler did say that Ryan's MRI is what they would expect to see in a 30 year old AMN male, not a going on 13 year old, so he wants to research a few things before we decide if a BMT is appropriate now.

Lisa

By Tonivr
Posted February 26, 2009 at 12:58 pm
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We found out today that Ryan is not our only ALD child, my 15 year old also has elevated VLCFA, my 18 year old does not. My 15 year old does not have any symptoms, so now he needs to have a MRI and will be seeing Dr Eichler in april. Needless to say I am feeling a bit overwhelmed at this point.

Lisa

By bnkg
Posted March 1, 2009 at 10:44 am
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Lisa;
One thing to the positive is that your boys are already approaching or in their teen years. The older you are the less likely to have the childhood form of ALD, which is the most serious due to the cerebral effects. I will keep you in my prayers.

Bill

By BH
Posted March 2, 2009 at 8:00 pm
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Lisa,

Glad to hear you got the rest of the boys checked, but sorry that another has tested positive. I'm sure you've been warned, but the 15 y. o. will also need regular testing of his adrenal function so you can avoid the kind of crisis your youngest suffered.

I found out I had the ALD/AMN defect when I was 15. I'll be 40 later this year. Addison's started in my early 20's. I still have no known neurological issues. So there's no reason to worry until you have more reason to do so. I hope all remain as healthy as possible.

-BH

By Tonivr
Posted March 4, 2009 at 12:02 pm
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Do those of you that have AMN follow the low fat diet and take Lorenzo's Oil? Can someone give me some information on the diet?? So far I have not been able to talk to the nutritionist or get much information on what is allowed/not allowed and what amount of fat/types ect are allowed.

By BH
Posted March 4, 2009 at 2:55 pm
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I haven't taken LO for the past 14-15 years. (It lowered my platelets too much, and since I have no neurological impairment, it's efficacy is unproven, etc...) The most recent information (11/2007) states that LO _is_ recommended for Addisons-only folks like me, but it's only a weak recommendation.

I have for the past 16 years been following the low fat diet. I am not a strict follower of the diet, though. As such, I don't do any dietary accounting of my fat intake, as some others with AMN do. As I understand it, there is no direct correlation between VLCFA levels in the blood and the observed symptoms. What I look for in prepared foods are low total fat content (no more than 10-20% by calories) and very low saturated fat content (as close to zero as possible). Certain foods/fats like peanuts/peanut oil, cottonseed oil (which is added to all kinds of prepared foods) that are known to be high in VLCFAs I avoid completely.

Also during the past 16 years I had been buying GTO oil and using it for food preparation. (GTO, Glycerol Trioleate, is one of the fats in Lorenzo's Oil.) However, the vendor from which I was getting the oil no longer sells it and the good folks at KKI won't allow me to buy it if I'm just using it for cooking. 'Use olive oil for cooking' is what I'm told. I just ran out of the GTO last month.

Welcome to Inspire!

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