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wordnerd58
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I am a 50 year old wife and mother. I have been living with this disease for about 5 years. 2 of that was spent ttrying to figure out what was wrong with me. Doctors were starting to think I was nuts and making this syptoms up. I fianally started doing research on my own and found ULF and from there was diagnosed. It is hard going trough the everyday things in life not knowing what the future brings. I pray a lot for God to just let me see my daughter graduate from at least high school but really I more than that. I want to see her married and know she is happy mostly I want to know if this is passed down to her. She is so bright and very talented she plays in our high school band. She received numerous awards while in middle school for her playing ability. Does anyone else feel this way too.

22 replies

pawny
  • By pawny
  • Posted May 18, 2008 at 3:29 pm

I am a 47 year old wife and mother who went through exactly what you did. What were your symptoms and are they constant? I also want to see my son graduate and see what he becomes. He is going to be starting high school next year and he is the center of my universe. I just received my positive blood test last week and I have so many questions. Did your doctor give you any beneficial information. My mother is 73 years old and although she had a stroke she is in good condition. Do you know if it is possible to have symptoms and then not to get any worse or is it possible to have the mutated gene but not get the actual disease. Did your doctor give you any medications?

wordnerd58

Thanks pawny for your response. Yes I have symptoms all the time. I have headaches all the time, some more severe then others. My symptoms were and still are severe headaches, a noise like balloons exploding in my head. I have started dropping things I think they are in my grip but there aren't. I forget where I'm going when I leave my house. Nothing long term but I'll get half way to somewhere else before I realize thats not where I was going. Unfortunaly my doctor knows next to nothing about this disease. He ahs done a lot of research on it since my diagnosis. I hav had two small strokes thank God nothing that left anything permanent. The doctor has given me Diamox to control the strokes. I still have some but they are so small that I don't even go to the hospital anymore. I hope this helps you.

Sarina
  • By Sarina
  • Posted May 19, 2008 at 5:39 pm

What are your symtoms if I may ask? I have been dignosed with leukodystophy but still searching for what kind . They are looking are testing for alexander disease,lam B1 leukodystohy , vanishing white matter, and one other kind not sure which? I am praying I will be able to see all six of mine get married and see my grandchildren I know God is greater than our diseases. I will pray for you and your family

wordnerd58

It started about 5 years ago with these noises in my head like balloons exploding. Was sent to and ear nose and throat dr. They found nothing wrong with my hearing and sent me for an MRI of the brain and thats when they found the lesions. They thought it was MS,so I went for tests and they came back negative. So I went through 2 years of test after test and nothing. The doctors were strarting to treat me like it was all in my head. Meanwhile the headaches were so severe that I could bearly function. Thats when I started to research myself and found leukodystrphy. Called and talked to them and sent my records to them. Now its still the headaches and I have 2 small strokes but nothing serious. I ahve started losing feeling in my hands and the memory isn't what it use to be. Hope this answers all your questions.

pawny
  • By pawny
  • Posted May 20, 2008 at 6:35 pm

That is very interesting. I guess this disease is so different for everyone. I was perfectly nomal until last September. I was in a perfume shop and all of a sudden after many years of not getting migraines, I got one. It went away and came back the next day and the next always with aura. After that I just felt off balance. I had one horrible doctor that put me on Topamax for the migraines which only made me dizzier. In February I started with ringing in my ears which never went away. I finally was able to get into another doctor who told me to take fish oil, flaxseed and to excercise and gave me clonazepam for the dizziness. Also my legs feel wierd sometimes like something heavy is on them. I am having an MRA on Friday. Have you ever had that? What do they tell you is the prognosis? Every web site is so different. Some say 3-10 years after symptoms start and others say up to 45 years.

Sarina-what are your symptoms?

wordnerd58

Yeah I know what yu mean the doctros tried all sorts of migraine medication on me too. But they didn't help. The Diamox I am on now helped for the past 2 years but now it's starting to be less effective. I sarted out on 250 mg a year ago the upped it to 500mg a day, but lately even that isn't enough to keep the headeaches from coming. Do you ahve good support at home? My husband is great about some things but he hates to hear my say any new symptoms are happening he wants to just say it's normal or it's ok. It makes me feel alone sometimes. I have never heard of an MRA what does it do? they have said that I have about 10 to 15 years after onset of symptoms. I have already used up 5 of them Ha Ha.

pawny
  • By pawny
  • Posted May 21, 2008 at 8:07 pm

My husband is supportive with appointments and stuff but he thinks if I just stay positive it will be OK. I know what you mean since to the outside I appear normal so I feel alone also. One time I went to the ER because I felt so sick and they looked at me likeI was crazy! I feel bad though that I can't be the same person I used to be especially to my son. I guess the MRA is like an MRI only it looks at the circulation in your brain. I don't know that I fully understand exactly what this disease does nor do I think the doctors do. They tell me to research it on the internet but not to believe everything you read. They haven't really explained exactly what happens. Are you planning on testing your children? My doctor told me to tell my siblings to get tested but my sisters doctor never heard of it so he won't test her without a note from my doctor. I worry about the effects they say it has on your memory since my job requuires alot of use of my mind. Anyway I will be curious to see what this test on Friday tells me if anything.

wordnerd58

keep me posted on the test results. My sister has been tested and she is fine, but we are only half sisters. I do have a brother but he had a falling out with my stepmother and has not talked to any one in the family for many years so he doesn't even know I'm sick. Most family type doctors unfortunately have never heard of this disease therefore are little help. The internet only tells you so much and its not enough believe me. The memory is effected at least in my case. I have already stated down that path, I wil leave my house and forget where I was going, I'll be half to somewhere else before I realize this is the wrong way. And of course the husband says its a sign of to much on your mind nothing else. I get very angry with him sometimes over that. He feels if you don't acknowledge it, it can't be that so he makes excuses for it in other ways and it drives me crazy.

jolocny
  • By jolocny
  • Posted May 22, 2008 at 9:08 am

This is my first time to the chatroom - wow! I was diagnosed about 4 years ago as a Sympotomatic Carrier of Adrenoleukodystrophy (ALD), it's been quite a ride! I went through a lot of what you are all talking about with Drs. & was definitely thinking that I was just plain nuts for all the same reasons. I was lucky enough to find a great doc at a teaching hospital who got the diagnosis and then he referred me to Kennedy Kreiger Institute at Johns Hopkins for further care. Headaches are a problem for me, too. They're SO bad when I get them! I need to ask if that's a symptom of this diagnosis. I thought that my forgetfulness was a part of menopause ... another ? for the drs! More than that, ALD in adults (also Adrenomyelopathy (AMN)) shows up in the lower body for women. I now use forearm crutches to maintain stability, a wheelchair if I'm going any real distance. The instability is very frightening at times. Most drs. don't know anything about the leukodystrophies and that makes life really hard for us. I have no family history of the disease, my daughter has tested negative (and I now have a gorgeous g'dtr, Olivia, who is not a carrier). My son is symptom free in his late 20's, so I can assume he doesn't have it. None of my siblings or their kids have it. I work hard at staying positive ~ and we all know how hard that can be some days. I thank God for my hubby and daughter, they make it all easier. ULF will continue to pull-apart a case until they get to a diagnosis for you. Will any of you be going to the conference in July? This has become a long entry - sorry for that!

wordnerd58

was glad to hear from you, nice to know someone else understands.Some memory lose is from this and some probably form menopause too. We get it from both ends. I too am starting to have trouble walking it seems I'm alittle more unsteady then I use to be. Takes me forever to climb the stairs at my house. I try to keep a positive attitude and go on as if life is normal. Glad to know about yur children not being affected by this. I was told how it almost always hereitary, couldn't figure where mine came from. I hope it stops and ends her with me as I would not wish this on anyone else. Thanks for your input.

jolocny
  • By jolocny
  • Posted May 22, 2008 at 11:53 pm

It must be really hard not knowing what the diagnosis is yet ~ hard to look forward. I'm told that ALD/AMN isn't fatal for women, small graces. But looking forward is the best for us ... there's got to be something to strive for, to keep going for. I know that climbing stairs was awfully tiring for me, I realize that now. I took a header down the stairs in October and now have a stairglide to take up and down. No broken bones, lots of soft tissue damage and muscle tears [if i do it, I do it well]. Took the better part of 2 months to get better. But that's behind me. I swear that it was my pride and my anger that brought me down! I wasn't sharing feelings ~ especially with those closest so I wouldn't alarm them. Well, I fooled me! I guess the moral to that story is don't wait until things get bad to make people understand that this is not that you WANT to have, do, etc ..... I had to finally tell those closest that I wasn't OK some days, please help, let me sit and recup for a few minutes, whatever. Please take care of yourselves ... we have so much to look forward to! I'll remind you ~ please remind me when I need it! Sometimes a good kick in the ass helps me, too! HA!

wordnerd58

I heard that. I know I need it more lately.Unfortunaltely my husband doesnt agree with you. His philosphy is everything can be explaine away its not your disease its this or that. Which makes it very difficult for me. I'm just suppose to keep going like nothing is wrong. And sometimes I just can't and I'll cry and then he's upset even more. But I have Jesus on my side which gets me through the long hard days.

jolocny
  • By jolocny
  • Posted May 24, 2008 at 8:10 am

I understand your frustration ... and I am thankful that we are able to pray. I call it "taking a load off" HA! Sounds like your honey is doing his best not to see what's happening to his invincible wife - they all go there. I still do from time to time! I hope that it doesn't take an extreme (like falling) for him to begin to understand. I will pray that that comes soon. What I have found is that I need to work WITH this and do for me what is necessary - whether it be to sit, to take a nap, etc. Yeah, it's taken me a while to get to this place and it's not easy. Hubbys and kids don't like to see us be any kind vulnerable! I see it this way with my honey now - he can be as upset as he wants with me, but it's me that is dealing with it on the front line and if I am to continue to do as much as I can for them and for me then I need them to be there for me. THAT was a huge passage for me - everybody came before me. The I realized that I can continue that with the slight variation of fradually giving them more responsibility of backing me up and taking over when I need them to - always being there to back them up and guide them whenthey need it, letting them do things their way and letting that be OK, bec it got done! This took a few years for me to get here! I still do a LOT out of stubborn-ness that i shouldn't. But if I can't bend over to pick-up a fallen crutch, then I'm asking for help! Please don't take this as being obnoxious - I've begun to live to the best of my abilities, for me and them! I am glad that you cry bec. for a long time I couldn't. That doesn't help us be alive.

wordnerd58

I am trying to let things go if not able to do them but you're its hard moms always done everything for them and now when I say no its hard for them to understand. But its hard for me too. I am used to being the strong one and now I can't always. I try to tell myself that it is ok but I don't think my heart is ready for it. You know what I mean?

jolocny
  • By jolocny
  • Posted May 24, 2008 at 8:43 am

Ladies, what are your actual diagnoses?

I have been able to find out the folllowing about being a carrier (depends on disease):
- we can be a carrier and never have symptoms;
- the symptoms don't have to progress, they usually don't get better, but they don't always get worse;
- it is possible to have the mutated gene and never get symptoms, not have family members be positive for it, and not pass it (my children and grandchildren don't have it)

I've been very fortunate (after the first 2 neuro-MDs I was referred to who had no intention of looking outside of their ego) to find supportive medical care. It's out there! Thank God, I was steered by my original doc (a great Neuro who said that WE needed to find out what was happening) to his mentors for diagnosis. They're out there!

I pray that we can all have the ability to see beyond ourselves to the many wonderful things that happen to us, and for us, each day - a moment at a time. It helps us to see beyond the disease and decide to live!

jolocny
  • By jolocny
  • Posted May 24, 2008 at 8:53 am

wordnerd58, I do know what you mean! It is SO hard to let "our responsibilities" go! Maybe if you let them know that you can be so much MORE available for them if they just begin to help you do what needs to be done. You're not deserting them, but will help them through it! We're Moms, and we need to share our selves and our duties with them right now. It takes a LOT to let this go - but think of the wings we're giving them! Bless your Mom-heart!

pawny
  • By pawny
  • Posted May 24, 2008 at 3:50 pm

I understand what both of you are saying. When I had my really bad migraine I never felt the same. I was always "off balance" and at one point I was so dizzy I couldn't get off the couch. Days went by where I could do nothing with my son and I felt like I was losing our relationship. I don't want to tell him what I have so I told me I have a disease which may make me tired at times so I may not be able to do everything with him like before. I still feel the need to do everything though because I can't stand seeing a messy house or an undone chore. I probably see now that I spoiled him and should have made him do more around the house so he could help me better.

I have had such bad luck with doctors that I would like to become a lobbyist in Washington or do something but I don't know what. When I went to the primary physician they sent me for the MRI and then sent me an E-Mail telling me there was something wrong with my brain. I was only able to see the Physician's assistant so when I called the office and asked to speak to the doctor they said she doesn't call patients and I shouldn't "freak out" that it might be MS. There is a lot more to that but I switched doctors and then it took me 14 weeks to get into a doctor as a new patient. I ended up going to the ER because no doctor would see me. I even offered to pay cash and they told me it was against the rules if you have an HMO. I did go to a horrible neurologist and when I mentioned that I felt like my memory was not as good she said it is probably because you are so anxious and told me to get Lexipro. Then she told me I had brain damage and I brought my husband to the next appointmetn and she swore she never said that. Even her staff complained about her. So now I have 2 new doctors. I went for the MRA on Friday and they didn't undertand what the doctor wanted so they only did part of it. I guess it checks for blockages in the brain and aneurysms. Then I get a letter from my insurance company that it was not approved. I think I have the worst luck when it comes to all this medical stuff. I do like this neuro much better though. As far as my diagnosis I did have the Cadasil blood test and it was positive but I thought one of your parents had to be a carrier and both of mine are still alive and fine and in their 70's. I hope that is true that the symptoms may not progress!

Anyway sorry to ramble but it is nice to know other people understand because sometimes you feel like th only one experiencing these things.

Deut31-6
  • By Deut31-6
  • Posted May 25, 2008 at 1:08 pm

I have read that they usually won't test a daughter until she is 18 yrs., have you heard that? My husband was recently diagnosed with x-ald and I am terrified about my daughter's future...

jolocny
  • By jolocny
  • Posted May 26, 2008 at 9:42 am

Hi Deut31-6, all I've heard was that as long as the DNA testing is complete on the original patient, then the family can be tested... at a lesser cost, too! That way, the gene is already isolated and easier to locate on the others. My daughter was tested when she was 24 and expecting ... but then I wasn't diagnosed until she was about 20. Ask a genetics counselor - they'll be able to give you lots of info once they're familiar with X-ALD. I was told that women don't usually show symptoms until 30s/40s (my symptoms started in my 30s, got much worse with job stress in my 40s) and it doesn't mean that she will, just that she MIGHT. God bless your journey!

wenALD
  • By wenALD
  • Posted June 12, 2008 at 3:02 pm

I am a carrier for ALD. I found out about 21 years ago when my sons were diagnosed. At that time I was symptom free, a bit off balance at times but not bad. I prayed to the Lord that if he would save my boys, I wouldn't mind anything that happened to me. I knew my sister was having many problems with walking and that she was a carrier also. My mother never had symptoms, yet she obviously had been the source. Anyway through the years I have gotten progressively worse.\

Now I use a cane or my walker, except in my house where I usually bounce off walls. My husband used to yell at me every time I fell, like I did it on purpose! But now (married 34 years) he is usually supportive. He does most of the house work, at least the washing of floors and vacuuming. I teach middle school still and am exhausted when I get home. When I have a bad fall, like backwards on the asphalt, he doesn't think of taking me to the hospital. It was almost 6 weeks ago and I still have nerve pain in my arm. Specialists take months to see. My appointment is August 26th!

I worry about my sons, which keeps me from worrying about me! The oldest is 33, and I was told he would die at 12. He lives with us, but is able to work as a warehouseman. My younger son is starting to show symptoms of AMN, which breaks my heart. My daughter is also a carrier. Out of four children my luck was not too good!

I wish you all the best and it is nice to know we are not alone.

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