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I have two children a daughter who is 12 and a son who is 10 they have both beed diagnosed with an undiagnosed leukodustrophy. It's really fustrating sometimes I wonder if its a leukodystophy at all. I was just wondering if there were any other families out there that are in the same situation that I am.
When I hear from you I can tell you more about my children. Thank you
Cancer Pain Physical therapy Refsum disease Leukodystrophy Cerebral palsy
Hi - I really do understand your frustration. It took us almost 20 years to get a true diagnosis. We have a daughter and her son who both were diagnossed with Alexander Leukodystrophy. You have come to the right place. Contact the United Leukodystrophy Foundation in DeKalb and keep searching - It is so much easier having a diagnosis (it is something to hate) the "name" of the disease instead of the unknown. I wish you strength and peace. Donna
Welcome to our family,
My name is Amy & I have a son with Alexanders Disease. Some days I can barely function with all the fear, questions & fustrations. I can't imagine having two children affected. My thoughts, my strength, & my prayers are with you.
You will find so much love here, I'm glad you found us.
Remember to take care of yourself. Your children need you. One day at a time. Lean on your friends and family ( that means us also ).
Keep in touch. God Bless.
Amy
Hello,
I just wanted to let you know that our family is going through a similar situation. Our son was diagnosed with Leukodystrophy in November 08, but we are still waiting to find out which one. I can understand your frustration. We have been dealing with symptoms for a few years now. My thoughts are with and your family. What type of symptoms are your children having? They might be similar to the same my son has.
I understand your frustration as I had 2 boys w/ undiagnosed leucodystrophy. This is really hard for me to tell you but I have to. When my oldest boy was about 3 months we began to notice he was not developing the way boys of his age, they began doing some exams , including genetic, after a few months he was diagnosed with cerebral palsy. He had all types of therapies although he had few progress. After 5 years his brother was born, thinking he would be the best therapy. After a while we knew his brother was going to be as special as him. We went to Mass General, and made lots of exams and after a year they told us they both had an unknown leukodystrophy. We loved them a lot, gave them everything they needed but always lived with the frustration we really didn´t know thwe name of the disease. I know it wouldn´t made lots of difference but sure we knew more and know what else to do.
They both were severely handicapped as they just could hear. They had a gastrostomy tube and my younger son had a tracheostomy with oxygen for his last two years. Although at the Mass General we were told that they probably would die about ten years, my oldest son lived until 12 and my younger until 17. It is a very horrible disease and frustrating but what I can tell you is live each day at a maximum, hug them, sing to them and be happy and take care. They are lovely kids who deserve love, acceptance and respect. Hope this can help you, please keep in touch with me and the ULF is the best. I know you´ll have difficult times and happy ones. Whatever you need be free to ask me. Love and prayers VIVA
As I read about your kids, I just wanted to give you the biggest hug. There is nothing worse than not having a diagnosis. Not only is it fusterating but frightening as well. It took two years to get a diagnosis and had it not been for my daughter I still don't think I would have one. Like some of the others here, I was diagnoses with adult onset Alexanders disease. I'm told it is extreamly rare and it took Dr. VanDerknapp in the Netherlands to recognize it. It was confirmed by genitic testing and not that I like the diagnosis, it was a relief to finally know what it was. I lived what I thought was a normal life for 43 years. One day I was partaking in a cancer walk in support of a friend and about 1/2 way through I became so fatigued I was holding on to my friends arm just to keep going. Soon after, my left leg started to drag and I lost both bowel and bladder control. Not only was this embarrassing, it was frightening wondering what was going on with my body. I struggled to wash up and my friends helped me to a chair where I sat for about 30 minutes to rest. I was then able to get up and walk a mile back to the train as if nothing had happened. Over the next few months the fatigue would come and then I was fine for a week or so. This went on for the next 6 months until it became constant. I finally had an MRI and the baffeled physicians sent my films from hospital to hospital to no avail. Two years later I found out it is Alexander Disease. The people here are so supportive and inspiring, Hang in there and know that God is always with you and lean on family for support as well. As the motto here goes, "You are not alone!" We are always here for you and sometimes other people have no Idea what you are experiencing. I pray you find the answers soon... Take care and have faith, Patti
NIH once had a long term research project to Dx those who had been dx'd with an unknown leuko. You might want to investigate the NIH projects, to see if this one is still operating and accepting new patients. All I had to do was gather up my medical stuff and send it to them. I also had to agree id fly to Wash D.C. and spend a week, if necessary. Airline and d.c.accomodations paid for by the research group.
The interesting thing was NIH said that other them those with MS, the undiagnoaed leukos were the largest group of those with white matter disease.
When I sent me stuff in, I had spent 6 years going through testing trying to figgure out what leuko I had, there are about 19 or so leukos, and each one needed to be tested to find out which one I had. I got a call back from NIH, in about a month, and was told I had cadasil disease (ironically cadasil had already been ruled out for me)
At one point it was thought we had adult Alexander disease (only 50 cases confirmed in the last 30 years world wide, and Albee Messing at the Univ of Wisconsin was working with my brother, sister and I, to confirm it. By the way,any adult with Alexanders should get ahold of him. He was the greatest help to us, than anyone. He returns phone calls, and opens his staff to you, to work with you. He even arranged for my mother's autopsy....which provided the key information to discovering we had cadasil disease. I could email questions to him and get answers. he would recommend which doctors or clinics to go to, and on and on.)
As I read your story I share your pain. I too have two children with undiagnosed leukodystrophy. Bobby is 15 and Andy is 12. We spent many years trying to figure it all out. Numerous test and biospy. No real conclusion. All the pain, agony for them, and for us. Watching your children in pain is the worst. Againist my better judgment Andy had a Achillies lenghting on his foot. It came highly recommend . It did very little even the physical therpist said so. It put him through so much pain. I really regret listening to the specialist. All of our specialist are 4 hrs away.
My peditrician finally told me about 4 years ago. If there was something out there to make there conditon better, it would be worth it. If not why put them through it. He wasn't crushing our hope. He was giving us permission to go on with our lives. We still continue therapies, they go to school.
We do everything we can to make there lives as enriching as possible. I'm sure there will be many who disagree with me but who are we really doing all these tests for?
Sincerely
Nicole
I too am sharing your pain and frustration. My son died last May after being ill for fifteen years, he was diagnosed with undiaganosed leukodystrophy only three years ago...what I can only say, is what the others have...Love your kids, love yourself, learn to breath and take time for yourself. use support sources and we are that for you and try as much physical therapy and massage as possible. though it won't cure anything, it will make the kids more comfortable and help increase their functionability. I am sending you white light and all of my blessings,
Deb Dennison
Hi my son JohnPaul was diagnosed with a unknown leukodystrophy, he turned 11 in this february, and we struggled like you because of the unknown.. he has also been to NIH in maryland for a research study for Leukodystrophy....I have a wonderful Doctor who is incredible and she works at Childrens Hospital in Washington DC her name is Dr Vanderveer., she just told us a few months ago he has Salla and I met with a Genetics Doctor last friday .....I am here if you need someone to talk with and will be praying for you and your family.....Trust in the Lord with all your heart and lean not on your own understanding....
I wouldn't change one thing about my precious JohnPaul, God sent him to me the way he is, and yes it is alot of hard hard work, but he is so incocent and pure and absolutely adorable....and honestly it is a blessing to have him, and he changes lives when he meets people....So keep the faith and think only positive...God Bless You
amy
Hi..
Undiagnosed is a hard place to be ...all I can say is that it took 20yrs. to get a diagnosis of LbSL for my son who is 26 yrs. old now...it did not change one thing for him, his life goes on day to day and we treat every sympton as they occur. There is no Cure...there are no miracle treatments out there. A name of the type of leukodystrophy that your child has is good to know for genetic test for simblings..it cannot be fixed for the affected child. Just love your child and do whatever you can to make them comfortable in their every day life...give them all your love and support.
Remember a NAME is just that...but it is not a Cure..it does not change anything...but it just helps us all feel better to acheive an answer to our questions. Love to you and to all who live with these illnesses.
I am very sorry to hear about your children. My daughter was diagnosed with Neonatal Adrenoleukodystrophy/Infantile Refsum's disease. I am very interested in finding out what their symptoms are? The most helpful for me was the Kennedy Krieger Institute at Johns Hopkins. They a least gave me a name of her disease but not sure if they were right, now I feel "stuck". Keep in mind you are not alone and just take it one day or one hour at a time, and give yourself some pampering as well, when our kids are sick or hurt we put ourselves on the back burner, but you need to be strong for them. Good luck!!
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