I am 56 years old and the mother of a 30 year old son who is severely disabled due to AMN. He was diagnosed at age 10 and at that time just had adrenal insufficiency. He was in the original Lorenzo's Oil Study but at age 18 went off to college and decided that he didn't need it anymore. Was a perfectly normal functioning kid - played sports, etc. At about age 20 his walking really started to get bad - he started out using one cane - then two - then a scooter and wheel chair. He could still stand up with help and transfer himself from chair to bed to toilet, etc. His bladder started having problems and he had to self cath himself starting at about age 25. He has majorly spastic legs and has a baclofen pump - takes cortisone and florinef for adrenal insufficiency - takes an antidepressant. His brain has continued to progress with demylenation but only in the mobility areas - his mind is fine - memory is fine - intelligence is fine. He has problems with breathing sometimes and articulating words - seems worse when he is nervous - most of the time he sounds O.K. He recently had a major incident that put him in the hospital and nursing home for six months. Developed a pressure ulcer on his hip - had it debrided and was sent home with vacuum therapy to close the wound with home health nurses. The wound became infected - he had another debridement that was huge!!!!!! Was put in a nursing home with vacuum therapy and definate nutritional help - lots of protein - that is the key to dealing with pressure ulcers. He then had a skin flap surgery after the wound closed from the vacuum. Had to lay in a sand bed for 6 weeks. Started PT and OT in the nursing home and continued it until very recently. Since this happenned he is now in a $17,000 electric wheelchair (medicare covered it), sleeps in a hospital bed with $2000 air mattress(medicare covered that also). He is catheterized all the time now because he does not have the manuel dexterity anymore to do it himself. Uroligist is considering a suprapub operation that is quite interesting - they go into the bladder and put a catheter directly in through the stomach and then there is a little pouch in the lower stomach to empty urine. The doctor says that the penis can erode with a catheter constantly in it. For bowels he has to be decompacted daily - I do that. He cannot void on his own. He has been home since mid June and is actually doing well but the disease has definately progressed - he has MRI every year and this year there was a lot of progression but just in the mobility end of things. His left arm is weak and he cannot write very well anymore - fine motor skills have deteriorated. He has a personal care aid that works with him 6 hours every day - gets him up (we use a hoyer lift) and gets him dressed and fed. Once he is up he is fine. Volunteers at our local hospital (he is part of the group since he spent 6 months there). We have a van to transport him places and he also uses the public handicapped transportation system to get around. He lives in his own apartment down the street with me and enjoys that independence. Between his personal aid - myself- and family he is able to stay in his apartment - with a ramp and be independent and productive. It has been quite an ordeal but we are coping. He has the best medical care that can be had - endrocronoligist, pain management doctor - neurologist - urologist - wound care specialists. We have learned more than we ever wanted to know about pressure ulcers!!!
He gained 50 lbs while he was in the hospital which he needed greatly. He had for the most part not eaten very well for about 2 years before the pressure ulcer. We lift him in and out of the shower where he has a shower chair that we strap him into. He gets a shower 2 or 3 times a week. I have been dealing with this disease forever. My grandfather was very crippled (not as bad as my son) and they said he had M.S. I have 3 brothers - 2 are fine - one has adrenal insufficiency but no neurological issues. He was diagnosed in 1976 - one of 40 cases in the world. We have been to Johns Hopkins and many hospitals in Philadelphia to treat the symptoms of this disease. We never give up. My mother is crippled but she has a lot of other issues that contribute to that - arthritus, curvature of the spine. I'm sure the carrier status has a good deal to do with her disability as well. I seem to be fine - I have no major issues. I am very clumsy and cannot run and have to hold on going up and down steps but other than that I am O.K. I have no pain in my legs or anything. I can tell that I have slight spasticity at times and at times my legs don't work exactly correctly but it does not inhibit me too much. I am amazed at how many women have so many issues similar to the men. I try to exercise and stay active in order to stay healthy. I would love to hear anyone's story. It seems that my son went down hill in his walking very fast - 10 years to total inability to walk. We deal with the pressure ulcers, the occasional adrenal collapse where he has to be taken to the hospital and be put on I.V. cortisone. But for the most part he is healthy for someone in his condition. I would love to hear from others.
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AMN - My son and me
- By Amkahler
- Posted September 16, 2008 at 11:28 am · 15 replies
- In Adrenomyeloneuropathy (AMN)
- Shared with the public
Explore topics in this discussion:
Exercise Surgery Lovastatin Spasticity Baclofen Leukodystrophies Pain Neurontin Memory Rare diseases Leukodystrophy
15 replies
- Oldest first
- Newest first
- By KateNDalton
- Posted September 17, 2008 at 8:21 am
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Welcome! I'm so happy that you are here! It amazes me how fast this disease can take over. What made your son decide to go off of the oil? Was it the low fat diet? You sound very positive but it has to be so very difficult. We are all here for you and you can reach me anytime at my e-mail kateness411@hotmail.com. My son is 4 and is asymptomatic. He's on the LO and hydrocortisone for his addisons. I'm constantly researching on this disease. It consumes every moment of my day it seems like. I'm doing better at taking it a day at a time. Sounds like that's what you're doing. Dr. Singh at MUSC just completed a study in August 2008 that suggests a treatment that not only stops the degeneration of the disease but also regenerates the myelin sheath. People who were paralized are now mobile. You may want to check it out. Thank you so much for joining! Bless you and your son!
- By sgtkimsmom
- Posted September 19, 2008 at 12:37 pm
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In your reply to Me and my son, you mentioned a possible new treatment by Dr. Singh. Where would I find out more about it as my husband could use some good news right now with his AMN.
- By Amkahler
- Posted September 19, 2008 at 1:35 pm
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I do not know anything about that study - it was the person who replied back to my discussion that mentioned it. I think it is something to do with lovastatin but I do not know any of the details.
- By KateNDalton
- Posted September 19, 2008 at 1:49 pm
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It is regarding Lovastatin. You can contact Dr. Singh at 'singhi@musc.edu'. I have not received a reply back from him yet but if you search under "Adrenoleukodystrophy Lovastatin Study" you will get many results in google. That's how I found Dr. Singh.
- By KateNDalton
- Posted September 22, 2008 at 9:28 am
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Just wanted to let you know that I have no idea if Lovastatin works or not. I hear one thing from KKI but then read so many articles differing that it makes me skeptical. I know I'm definitely not a doctor and don't pretend to be. I'm just having a hard time accepting that there is no solution. Acceptance is a huge problem for me but I work on it day by day. I'm very grateful for another day here on earth with my son and I'm grateful you do too. Have a blessed day!
- By KateNDalton
- Posted September 26, 2008 at 9:30 am
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I was thinking about you and your son last night. I wonder if going off of the oil made his symptoms escalate even more than if he had never been on the oil to begin with. My son asked me last night if he has to be on a low fat diet once he turns 5 (he's 4). I told him he is very special and gets to be on it forever and it horrified me as soon as I said it! Then I thought, what if he goes off of it like your son did and suffers from it. There are always going to be "what ifs" I know but I couldn't help but wonder if the LO could actually make the disease progress faster in one who stops the study compared to a person whose never been on the LO. Just sort of thinking out loud this morning.
- By Amkahler
- Posted September 26, 2008 at 10:21 am
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No one can really tell us if going off the oil and diet caused the progression but in my gut - I think it probably did. Both he and I have thought about this - he made the decision - I was against it. How do you make a grown man (18 and off to college) do something when he doesn't want to. He was fine - healthy - no problems. There was no doctor that could guarantee him that staying on the oil and the diet was going to keep him from having problems so he made his own decision. Interestingly enough no doctor is still willing to definatively say that going off the oil and diet caused the progression. They just don't know enough yet. I know that he would tell your son to stay on the oil and diet forever - but when your son becomes a teenager - it gets hard to make them do what you want about their diet - they go out with their friends and cheat - they decide they are going to pour the oil down the drain. I think when more can be said about the effects of the oil and diet boys will be more willing to agree to stay on it. Dan and I have come to terms with his decision and moved on. It does no good to look back and blame - it is what it is - he made the decision he felt was right at the time. Now we deal with his disabilities and try to stay positive. I hope that by the time your son gets older they will have a cure for this dreadful thing. That is my hope!
- By wenALD
- Posted September 27, 2008 at 5:13 pm
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The idea that going off the oil makes things get worse was a theory Dr. Rizzo had about 21 years ago! At that time my son was in Rizzo's study and he was not sending me the oil regularly. We got into a rather heated argument about him using my son as a guinea pig, which he adamantly denied. Anyway my son was on the oil from the age of 12 thru the age of 18. I had the same problem when he was able to choose what he wanted to do on his own terms.
He is now 33 and is showing quite a bit of cerebral demyelination. I don't know what that means for his future - it scares me to death. He lives at home, lost his job, and now is looking for work. I don't know whether he is still capable or not. It is very difficult as you all know.
But when I saw the comment about things getting worse after the oil, I remembered. If I had to do it over again I would really have pushed both my boys into staying on the oil.
- By twbuckner
- Posted October 3, 2008 at 12:19 am
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Hi,
This discussion hit home with me because my brother is going through many of the same things as your 30 year old son, only he is 52. I am 47 and am still in much better shape (we both have AMN). I guess my point is that it seems to impact our lives at different levels and nobody knows why. I am taking the "study oil" from KKI and it is no fun. When this research is complete, we might have better understanding of whether the oil has any effect, and i will have to decide whether to strictly follow the diet and/or take the oil. If the research demonstrates that the oil is effective, i will likely continue with it (knowing, with certainty, by then that the oil is not placebo) and stay on some form of the diet.
Since the effects of AMN vary so much, it can be difficult to determine if the oil has any immediate benefit. But for those of us who have a slow progression of the symptoms, it is probably worthwhile to continue taking the oil to maintain our health.
-ted
- By paulm68
- Posted March 27, 2009 at 1:17 pm
- Report post
AMN, Thanks for your reply. All we have been told is that he has Leukodystrophy and as you know that is a big bucket clear full. we do not know what is the best treatment because we do not have any direction
- By Amkahler
- Posted March 27, 2009 at 2:02 pm
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Hopefully you are being seen by a neurologist. You need to contact Kennedy Krieger Institute - the world's experts on all leukodystrophy's. Who has diagnosed him???? Do they not know what to look for with tests and MRI's? Go to the experts in this field - Gerald Raymond at Kennedy Krieger Institute in Baltimore.
- By Nolans
- Posted July 30, 2009 at 11:58 am
- Report post
Hi Amkahler and all the rest.
My Fraser is now 19 and has been deteriorating insidiously and continuously for 10 years. His presentation is very similar to the case that is the 1st entry here (Dan ?) except that we are only 70% down the path and (huge difference) Fraser's cognitive functions are being impacted in step with his deteriorating mobility.
His diagnosis is "Leukodystrophy .. unspecified" and Dr. Raymond has seen him twice. Still no meaningful answers and a very cagey prognosis. We will probably be back at KKI in September. We live in Barbados.
Cliff
- By connie-kev
- Posted September 16, 2009 at 5:44 pm
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Oh my goodness. Your situation with your son is hard to imagine, unless, you've lived it. I, too, have a son with adrenoleukodystrophy and I am a carrier. Was your son before the age of 10 having any learning disabilities or trouble keeping up in school, speech problems?? My son was first diagnosed at the age of 2 with "communication handicapped" then the (label) which I never liked or agreed with) became mildly retarded. He was able to play with all of the neighbors kids, swim, play ball, ride a bike. Then, at the age of 22 his walk (gait) wasn't right. I kid you not, when I tell you that we've seen over 30 doctors in the passed 10 years and they just looked at us like we had three heads! We first went to the Univ.of Pennsylvania, very caring doctor took alot of time with us and mentioned HSP. He put him on bacolfen and neurontin . His disease with very slow but still progressing. Took him for a second opinion at the University of Michigan. There, we met a Dr. John Fink. He specializes in genetic rare diseases. He has been very helpful, still keep in touch with him. No changes in medicine just higher dosage. Still believing it was "complicated" with multiple symptoms. During this year, everything has changed rapidly. We had more MRI's Cat scans, blood work which came back a positive with the VLCFA . Kevin has gone from a cane, walker to a wheelchair all in one year. Has difficulty speaking (makes a clicking sound like grasping for air) urinary and bowel dysfunction, hearing loss, eyes getting weaker, outbursts of anger/mood swings. I can go on and on with 10 years of history and how upsetting and frustrating not knowing what was really the problem. Do you know if you can have multiple diseases related to the leukodystrophies? And for me being the carrier, what symptoms am I looking for? Wishing you and your family better days. Please keep in touch.
Connie-Kev
- By JAMIESBUSY
- Posted October 14, 2009 at 10:06 pm
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Im here as well with a 13 year old boy with ald and addisons. he takes cortisone and florinef. a very low fat diet and KTC mustard oil. we cant get LO.
jamiesbusy@msn.com
- By Amkahler
- Posted October 15, 2009 at 9:48 am
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We were fortunate enough to have this thing diagnosed in my brother in 1976 at Thomas Jefferson Hospital in Philadelphia - my brother was one of 46 people in the world diagnosed at that time - he only has addison's and no neurological symptome at this time - he is now 47. My son was completely normal as a child - athlete - no learning problems - went to college - graduated. Symptoms started to show at about age 19 with a little tripping - very slightly - by age 21 he was walking with a cane - by 26 - two canes - 28 a scooter - 30 confined to a wheel chair. He is very highly affected now - but cognitively he is o.k. - there are mood swings but he is still with us cognitively. He lives in a nursing home at this time - cannot be alone anymore - his eyes are effected - we just had a neurological optomologist evaluate him at Will's Eye Hospital in Philadelphia (one of the best in the country). He can see but his peripheral vision is effected and perception issues do occur. His hearing is fine. His arms are not very useful anymore - he cannot do much at all with his left arm and his right arm is o.k. to run the joy stick on his wheelchair and a few things but that arm is deteriorating also. He is 31 - and my hero and an inspiration to all that know him. I don't know how much more time he has left but he is actually pretty good right now. He has a baclofen pump for spasticity in his legs - a colostomy (which has been a godsend for the bowel issues), a suprapubic catheter, and a feeding tube. He does eat food but not enough to sustain a good weight so he receives feedings through his feeding tube 4 times a day. He is out and about as much as possible and is a very valued member of our family!
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