share: I am a carrier of Adrenoleukodystrophy and my health is slowly failing
I found out that I inharited a deadly genetic condition from my father when i got pregnant. My mom waited untill i was 5 months pregnanat with my son to tell me that my son had a 50/50 chance of inhariting a condition called Adrenoleukodystrophy. I is so rare that 1 out of every 17,900 boys nation wide have it. My son is one of them. He gets treatment through Kennidy Kreiger Hospital. But, i can not find someone willing to explore the health problems I have. We have proven that I am a carrier and have symptoms of long term chronic pain, weakness and stiffness in legs and arms, migrains, and much more. I no longer sleep through the night because of my pain. I just don't know where else to look for help. The doctors don't know how to help me. I am the only person left in my family that has this condition other then my son.
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Dear Monica,
Thank you so much for your question and I'm sorry you are dealing with these health problems.
I assume your mother did not tell you about this condition until you were 5 months along to prevent you from aborting the baby? I know that's a grand assumption on my part and it certainly doesn't mean you would have gone ahead and terminated the pregnancy but why else would you have been left in the dark? It's a pity, really, since you have a right to know and understand your medical condition and risks, as well as future children.
There are several types of adrenoleukodystrophy - do you know which one you are a carrier of? And your son? Do you know what type he has? Is it the X-linked?
I assume you have seen the movie Lorenzo's Oil with Susan Sarandon and Nick Nolte that deals with a young boy suffering from adrenomyeloneuropathy. What did you think of the movie? Realistic or not? Is your son using Lorenzo's oil as part of his treatment?
For readers who may not be familiar with this rare condition, Empowher describes it as " a rare inherited genetic disorder. There have been 34 types of ALD described. X-linked ALD is the most common category. ALD results in degeneration of:
◦The fatty insulation covering on nerve fibers in the brain (myelin sheath)
◦The adrenal gland
There are six types of X-linked ALD:
◦Childhood cerebral ALD
◦Adolescent ALD
◦Adrenomyeloneuropathy
◦Adult cerebral ALD
◦Adrenal insufficiency-only
◦Symptomatic heterozygotes
Causes
X-linked ALD is caused by an inherited defective gene on the X chromosome, and is therefore called a “sex-linked” inherited disorder. In people with ALD, the body's enzymes do not properly break down fatty acids. This results in an accumulation of high levels of saturated fatty acids in the brain and the adrenal cortex, which causes degeneration of the myelin sheath (insulation covering on nerves) and the adrenal gland.
Risk Factors
A risk factor is something that increases your chances of getting a disease or condition. Risk factors for X-linked ALD include:
◦Having a mother who carries the defective X-linked ALD gene
◦Age: Childhood to young adult
◦Sex: Male, although females may be affected
Symptoms
Symptoms can vary within the types of ALD.
X-linked ALD (Childhood Cerebral ALD)
This form of X-linked ALD is the most severe form of the disease. This type only affects boys. Symptoms usually begin between the ages of 2 to 10 years of age. About 35% of patients can experience severe symptoms during the early phase. On average, death results in 2 years, although some patients may live a couple of decades.
Initial symptoms include:
◦Behavioral changes
◦Poor memory
As the disease progresses, more serious symptoms develop. These include:
◦Vision loss
◦Seizures
◦Hearing loss
◦Difficulty swallowing and speaking
◦Difficulty with walking and coordination
◦Vomiting
◦Fatigue
◦Increased pigmentation (“bronzing”) of the skin, due to adrenal hormone deficiency ( Addison’s disease )
◦Progressive dementia
◦Vegetative state or death
X-linked ALD (Adolescent Cerebral ALD)
This type is similar to the childhood type except the age group for presentation is 11 to 21 years old and the progression is usually slower.
Adrenomyeloneuropathy (AMN)
This is the most common form of X-linked ALD. Symptoms of AMN can present in the 20s, and progress slowly. They can include:
◦Weakness, clumsiness, weight loss, nausea
◦Emotional disturbances or depression
◦Muscle problems (e.g. walking problems)
◦Urinary problems or impotence
◦Adrenal gland dysfunction
X-linked ALD (Adult Cerebral ALD)
With adult cerebral ALD, symptoms usually do not appear until young adulthood (20s) or middle age (50s). It causes symptoms like someone with schizophrenia and dementia. It usually progresses fast, and results in death or a vegetative state in 3-4 years.
Symptomatic Heterozygotes
This form of ALD is seen only in women. Symptoms may be mild or severe, but usually does not affect the adrenal gland function.
Diagnosis
The doctor will ask about symptoms and medical history, and perform a physical exam. The doctor may suspect ALD from its symptoms. To confirm the diagnosis, blood tests, to look for increased amount of very long chain fatty acids may be done. An MRI of the brain may be done to look for brain involvement.
Treatment
There is no known cure for the neurologic defects of ALD. However, the adrenal deficiency can be successfully treated with cortisone replacement. ALD (especially the more severe forms) often causes death within 10 years of the onset of symptoms.
Some therapies can help to manage the symptoms of ALD. There are also some experimental treatments.
Therapies to help manage the symptoms of ALD include:
◦Physical therapy
◦Psychological therapy
◦Special education (for children)
Some treatments you may want to talk to your doctor about include:
◦Bone marrow transplant —this procedure may be most helpful when given early to boys with X-linked child-onset ALD
◦Dietary therapy, which includes consumption of:
■A very low fat diet
■“Lorenzo’s oil”—dietary supplements of glycerol trioleate and glycerol trierucate (oleic and euric acid)
◦Lovastatin—an anti-cholesterol medication
Prevention
There is no way to prevent ALD except by preventing the birth of affected children. If you have ALD or have a family history of the disorder, you can talk to a genetic counselor when deciding to have children. Early recognition and treatment may prevent the development of clinical symptoms, especially in young affected boys who are treated with Lorenzo’s oil. New technologies may soon allow early identification through newborn screening."
Monica, the pain in your arms, legs and head may be symptomatic of this. And adrenomyeloneuropathy has a history of being both misunderstood and inadequately served by some people in the medical community.
What have the doctors told you about your symptoms? Have they given you any pain management solutions at all? Are you sure you are just a carrier of it - how extensive have your tests been?
Monica, have you contacted support organizations that can help you? If not, please do. They will have more resources and people with personal experiences than anyone else. You can contact AMNHelp.com and they have an online support group of sufferers that I bet can point you in the right direction - you can find them here www.amnhelp.com and their online support group can be found here : http://www.rareshare.org/communities/adrenomyeloneuropathy
You can also get help via The United Leukodystrophy Foundation at www.ulf.com
Will you talk with them and tell us if they can help you? If not, tell us and we'll find further resources for you.
Please stay in touch and update us. We are here for the very reasons you talk about - to empower women to live their best and healthful lives, no matter what conditions or diseases they have. You should find and receive help - you don't deserve to live with this kind of pain and with a lack of support from the medical community. You can find help and we're here to help you find it.
Let me know how you fare. We wish you and your son the very best.
August 8, 2009 - 5:01pmThis Comment
I have not found a doctor that is willing to put his name down on paper stating that "this" is what i have. They did put me on Morphine for right now. But how long it that going to help. Right now i am on a very high dose to control that pain but at times it just doesnt work. The neurologest said i have what looks like the onset of adrenomylinoprathy. But he doesn't really know so they call it fibromialgia. A cover up for "i dont know", and honestly they dont care to findout more. Vermont just doesnt have enough education on adrenoleukodystrophy both for young boys and for wemon as carriers. Traveling for me is out of the question, medicaid wont pay because there is no help and paying for something that they cant fix is pointless. They say "try to find help around here". There must be something. I live near UVM collage in Vermont but even they dont have the resourses to help. Money is tight in Vermont. Many programs have been cut. I wish I had the money I would pay someone privatly to find some kinda help. Even if I was to find help out of state I have no one to take my sone while I get help. What a screw over. I guess that all I can do is hope that one day they might be able to help. They are unsure of the outcome of my sons condition. He is only 4 and the study changes child to child and age to age. A female carrier is even more rare, not every female carrier have problems like me. Maybe oneday i will find someone struggling like me and i will have someone to relate to and comunicate with that feels my pain. I must go for now, i beleive it is going to be one of those hard days i feel sick to my stomach and my head hurts. What a day this will be. Thank you for getting back to me and hope to hear from you all again. I will check in when i get time. Thx Monica
August 10, 2009 - 6:41amMonica, let me check into things in Vermont for you, just give me a few days.
Also, did you contact anyone from the organizations I linked you to? I promise they'll be of great help to you.
Let me know!
August 10, 2009 - 1:58pmMy son will be on a fat free diet for the rest of his life. He is not pleased but we have no choice. I try hard to protect him from all the trash foods out there ut when he goes to school he sees kids eating things that he can not have. At times he stops eating because he doesnt get the food he wants, and feeding a child a fat free diet is hard because you need to keep track of food he will eat. There is not much for fat free food in the market these days so we are finding substitues for things like mayo, meat, milk, and so much more. He will never enjoy a cake, ice-cream, or candy. Holloween is out of the question. I try to avoid anything that could trigger him to not want to eat the foods I give him. It is so hard and he gets bored with the food I have to get. He is only allowed to eat 13 grams of fat a day and 9 grams of that comes out of his walnuts needed for his diet. It is not an option, he must eat them. Try it for a few days and you will be able to see what it is like to eat only 13 grams of fat. It is not easy. It has taken a while, but i am slowly getting the hang of it. We have been doing this since he was 18 months old and he will be 5 in November. We hope he will grow up with out any problems, but he has already started with behavieral issues and he had an accident and hit his head leading to a seziure. Now I get even more stressed and nervouse when he starts doing anything that could cause him to go to the hospital. I just dont want to get to that point where he will need treament with staroids. They will stunt his growth, and he is short enough and is already needing help with special education. Mybe I am to protective, but i kjust want him to grow up with out being sick of missing out on anything every little boy should enjoy doing.
August 10, 2009 - 6:55amI'm an ALD patient myself with a low fat diet (I have the addison-only fenotype). And I can tell you one thing about a fat free diet, you'll find ways in recreating dishes. I even made an ice cream that's fat free and darn close in texture and taste with 'real' ice cream. (tried it out on my family and friends, and they realise after a few bites that it isn't normal ice cream. But they can't figure out what it is instead. And they say that it tastes almost exactly the same).
Although I'm wondering what kind of fat free diet your son is following. Is it the Lorenzo's Oil diet or is it just fat restricted? (and which kind of fat restricted)
You mentioned that he has some behavioural issues. I strongly recommend that you see his doctor and check if this is caused by ALD (check with an MRI). In early stages you can treat the damage ALD does, so be adamant that they do this.
And don't be afraid that steroids stunt growth. The one you son gets when he has addison don't do the same thing as anabolic steroids. You have to do some some really weird stuff to stunt growth with corticosteroids (and stunted growth is the least of your problems then).
I have been taking corticosteroids from the age of 3, and I'm now 27 years old. I'm 6 feet tall, and I'm a full feet taller than my mother. So used as a substitute therapy they won't harm you sons growth.
And I can understand that your doctors don't know what you have. Adrenomyeloneuropathy didn't even have a name a few years back. And it wasn't even well known that carriers could get symptoms. I'm glad that the researchers here in The Netherlands did a lot of work to research this and give this a lot more publicity.
At the moment I have to go to work so I have to keep this short (I live in Europe, so bit of a time zone difference). I'll keep an eye on this discussion to answer any questions you might have for me.
August 10, 2009 - 10:40pmI wish there was more i could do for my self but there isnt. If you hear anything about helpping wemon in my situation please pass me the information. I could use it. Right now my doctors dont know what to do. All they can do is make me comforable. But it effects my life because i can not work and disability doesnt think i am elagable for disability payments. I can not stand or sit for long periods of time. My body hurts all the time. and i dont even want to get into all the other things wrong with my life i just need to live my life to the fullest and i am trying. I will be happy if i cna get my son off to collage before any major health problems have kicked in. Haley is on the Lorenzo's Oil diet. He takes both the medications and eats a fat frre diet. He can only have 14 grams of fat a day, and 9 grams come from his walnuts. He must have them. It is part of the diet plan. That leaves 5 grams for his meals. 5 grams to fit beakfast, lunch, and dinner in. It is not easy. I wish I could do more.But with my financial resources have put a bind on my own diet. I have been struggling to afford all the foods needed to maintain my son diet so to make sure he gets what he needs I buy food only for him. And what is left over or anything that I can find that doesnt effect the foods my son has planned each month. Sometimes that is minimal. I am doing everything I can.
August 11, 2009 - 3:08pmSorry for the late response, got swamped after I wrote my original message. And I didn't mean to suggest you're not doing enough. You are doing more than a lot of parents I know. You are asking questions and doing the best you can for your son given your situation. And trust me, I've seen some stark contrasts with what you are doing.
I can strongly recommend the following page on the x-ald.nl website (by the Dutch researcher Stephan Kemp). It has some good information on carriers of the disease:
http://www.x-ald.nl/heterozygotes.htm
What I can recommend is contacting the Kennedy Krieger Institute to get an official diagnosis that you are a carrier with neurological symptoms. With that diagnosis you should be to be eligible for disability payments. And I also would suggest contacting the ULF. They should have resources, or know people, that can help with the diagnosis and with getting disability payments. They also can bring you in contact with other parents (for tips, or just sharing stories).
This will not cure you, but make you more comfortable (treatments can be better fine-tuned to your needs). And the disability payments will give you the 'peace of mind' so you can focus on the care of your son (I'm not saying you're not doing that. But this problem is an unnecessary burden on you).
About the diet. I'm a bit puzzled that you need to give him walnut oil. You can replace the essential fatty acids your son is not getting by supplements. They will give your son the fatty acids he needs without the addition of other unnecessary fats. The same thing is being done for me. I have vitamin and fatty acid supplements that don't add a lot of unnecessary fats to my diet. I do have to mention though that this is more expensive, but gives a lot more freedom (the vitamins I have to pay for myself, the fatty acid supplements are paid for by my insurance company). This could be worth the effort, considering the walnut oil is 9 grams of the 14 grams your son can have on a daily basis.
And the diet can indeed be expensive. Especially in the US where processed foods are cheaper than the options your son is allowed to eat (I to have sizeable portion of my wages reserved for speciality items). I can give you a lot of tips to help with the diet as I've been on it for 21 years. Although it would a bit much to just spit it out on a page here (I probably can write a book on the subject). Could you give some details on the kinds of foods you buy for your son? I might be able to give some tips or alternatives for it.
One of the tips I can give is a vegetable garden if you have a yard. I know you have problems with your legs so it might be hard to establish the garden or do 'grunt work' on it. But you might be able to get some help from friends or family with the initial labour investment. And then you only have to do some maintenance work on the garden (I do recommend using mulch to suppress weeds so you don't have weed as often, or as much). This is not a solution for everyone, but it does save me a lot of money on a yearly basis (thanks to my mother and father who have a quite sizeable vegetable garden).
(And why aren't there any white lines between paragraphs on this website. It makes comments really hard to read...)
August 16, 2009 - 3:21amWhen I read this story, the condition sounded so familiar. It's the condition that inspired "Lorenzo's Oil," that Susan referred to above, named after Lorenzo Odone who had it and whose parents founded the Myelin Project.
August 10, 2009 - 5:09pmYes, There is so much more to ALD then what the movie shows. Some peoplethink i am joking when i tell them that it is a condition that not many doctors know about and most times it is to late to help a child when they find out the child has it. I was luck to find out when I was pregnant. I may not be happy with my mother for keeping it from me after asking her about any other health problems in the family when i first found out i was pregnant. But,I had no intention on aborting my son because he was sick. It just made me understand that mericals come in small packages. He is such a good kid ( as good as a 5 year old can be ). My mother was selfish, and felt that her life was none of my business. She wouldnt tell me much about my dad at all, he was the one that passed the condition to me. It is passes father to daughter, mother to son. I lived with her while I was pregnant, and she was selfish about everything about our family. I would ask a question and should would tell me she cant tell me about it. She left town 2 months after my son was born. It was her choice. I have talked to every program I could to get help. I am doing this alone. Maybe i am selfish myself too. But, this is not easy. I am 27 years old, and doing this. But, I am making it. My son is what keeps me going. When I had Harley I knew nothing about ALD and now i know more then most of his doctors and most of them dont understand me and have to go back to books and look. There really isnt much out there for anyone to study. They are still in the early stages of undestanding this disorder. My son goes to a medical study in Baltimore, MD. at Kennidy Kreiger Hospital once a year. It takes 3 days. I hate traveling. I was hoping to find a doctor that is local that would be willing to take on a study here. But, I have not had much help. I am alone in this. I live in Vermont, right next door to University of Vermont Medical School, and no one has an intrest in studing this condition locally. I am also, as far as we know, the only family in Vermont that has this condition. I have tried to find a family local that I could share support with. Many of my friends have no clue what I am talking about. I gave up on trying to get help for me. I just want Harley to have all the help he can get. I do ask that if there is anyone in my area that has this disorder please feel free to contact me. I am in Burlington, Vermont.
August 11, 2009 - 11:13amRecently I watched a film called Lorenzos Oil in which a boy suffers from ALD which was based on a true story. His parents never gave up hope and researched a treatment for ALD sufferers. After many years of research they created an oil called 'Lorenzos Oil' named after their son. By taking this oil Lorenzo lived until he was 30. Other kids have been taking 'Lorenzos Oil' and they can now live a normal life. Maybe give 'Lorenzos Oil' a try.
August 12, 2009 - 4:18pm