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Leukodystropy of unknow etiology

Lisa44
2 Recommendations

I was wondering how many other people are out there with a child who has a leukodystrophy of unknown etiology. I would love some feedback from those of you who do.

My son was diagnosis about 7 years ago. My husband and I feel like we have been at a standstill for too long. We would like to see something come from all the testing through being involved in a clinical trial for unknown leukodystrophies.

Please respond if your child fits into the category of unknown leukodystrophies.

Thanks!!!

Explore topics in this discussion:

Dysmyelination Seizures Physical therapy Autism Foot drop Leukodystrophies Pain Weakness ALS Cerebral palsy Leukodystrophy

31 replies

MBA28

Hello Lisa44,

My daughter, Kelly, was in her mid 20's when we received a definite diagnosis. She has CACH, a form of Leukodystrophy, and it was about the only disease that she hadn't been diagnosed with over the years. She was diagnosed at the National Institutes of Health, but unfortunately the clinic was recently closed. I suggest that you gather all of your child's records and go to the next ULF conference this year. You can sit around a table of the world's experts, allow them to look at his records and films and probably get a diagnosis.

Andy12

Hi Lisa,
Am very new to this site. We have a 12 year old boy who has an unidentified leukodystrophy which presents as a deteriorating ability to walk and slowly incresing generalised weakness. He is cognitively bright and this hasn't changed. He has gone from been an active normal 6 year old who was becoming slightly clumsy, to a child now mostly using a wheelchair although he can still weightbear and does walk short distances with the use of a rail etc. At 7 after being shunted off by Dr's as over anxious parents he had an Brain MRI which showed a change in the white matter in part of his Cerebellum. He has had a full body assessment, bloodtests, repeated MRI, bone scans done, you name it, everything else is normal at this stage. All known leukodystrophies have been excluded. He was enrolled in a worldwide research study with Dr M Van der Knapp, but the results showed nothing. She is supposed to be a world expert in radiological leukodystrophy diagnosis. We currently see a more welcoming Dr in Sydney at the childrens hospital who has recently trialled him on steriod therapy which has shown some improvement in his stamina and wellbeing but he cannot stay on these high doses.The support services in Australia are very limited with these conditions and everyday is a battle to seek out services etc as his needs change. Part of me accepts we will never have a diagnosis and we try to enjoy each day and maximise his quality of life at school and home. We are both from the medical /health world ourselves but this makes little difference with a condition like this. Any advice or anyone knowing a child like ours I would love to hear from you. We have never meet anyone in Australia who has a similar condition. It is a lonely road, but we do find wonderful people out there who help as much as they can.

Lisa44

Andy,

I am so glad to hear from you. Your 12 year old sounds very, very much like our 12 year old. Dr. Van der Knapp was also involved our case. We live in the U. S. and were being seen at The National Institutes of Health by Dr. Raphael Schiffmann (who recently moved to Baylor Medical Center in Dallas, Texas). They were doing a clinical research study in conjunction with European physicians for unknown leukodystrophies. He also had a great deal of testing done repeatedly over a four year period. His MRI's also show a decrease in white matter in the cerebellum part of the brain. His cognitive abilities remain strong, but as with your son his walking ability has deteriorated over the years. He does not use a wheelchair. He does use a walker at school, but we will probably have to go to a walker at home here before long also. He is beginning to crawl at home because it is easier. I have been reading a little bit on the different types of treatment in different countries. The U. S. does not approve any that other countries are trying. I am on my way out the door, but would love to continue communicating with you as it seems we may have children that are very much alike. Please contact me back, my husband and I would love to know more.

Thanks,

Lisa

huntercole

Hi
I have a 2 1/2 year old that is undiagnosed. Doctors believe he may have a rare leukodystrophy or neurodegenerative disease. Our first son died at the age of 25 months back in 2004. He was never diagnosed either. My boys were both born with developmental delays and feeding difficulties (that is how it all began)
I would love to hear from others who don't have a diagnosis. My son that passed was tested for so many diseases and now my 2 1/2 year old son is being tested. We still have no answers.
--Veronica Wallace
www.caringbridge.org/visit/gabrielwallace

Lisa44

I'm so sorry to hear about your son who passed away, and what you are now dealing with regarding your other son. My son was actually born perfectly normal. He did everything on schedule until between the age of 3-4. Which these things are normal with leukodystrophy. I certainly hope they take all the testing done on your other son apply it to your 2 1/2 yr old. Good luck and God bless you!

Andy12

Hi Lisa,
Thanks for your reply. Took me a while to find it I didn't look back on your page!. Andy our son was involved in a study labelled "Cerebellar Leukoencephalopathy likely Histiocytosis related" which was published last year around Sept/Oct. Both my husband who is a medical specialist and Andy's current neurologist felt he didn't fit in with the other 12 young peope in the study and the results were inconclusive anyhow. So we are none the wiser. His Dr has trialled him on high dose steroids for 6 weeks over our summer just been, which did show an improvement as i mentioned earlier but he is currently reducing this dose as he cannot stay on these levels longterm. Otherwise there has been nothing else tried to help him. There is no family history of anything and he has 2 healthy younger siblings. Are you aware of any studies /research applicable to our children. Australia is such a small country nothing much happening here. It is amazing that if our children are similar we have found each other, having believed we are alone. We only became aware of subtle changes in Andy around 5-6 years of age. How about your son? Look forward to hearing from you and more about your son and the development of his health issues. We too are at a dead end with no guidance on where to go next.
With thanks, Lynda

MOORPARK

I have ADLD adult leukodystrophy .
I have lost my speech and I am unable to stand on my own. I have visited UCSF San Francisco but not much luck. Could I discuss with any one having the same disease.

JOSHYSMOM

My son was also born perfectly healthy at 9 mos. He weighed 9lbs. 3oz. He did everything fine at first. He was alittle delayed at walking, 17 mos, but I wasn't worried. He has a healthy older brother and a healthy younger brother. Nothing like this is found in our families on either side. He started getting an awkward gait around 2. Then he started walking up on his toes. Then he started falling more often. It seemed like the more he grew the worse he got. He was 4 and his right arm turned stiff and inward. Until now he had no trouble with his arms. He did have trouble with fine motor problems but was making progress with therapy. We started going to different doctors and he had so many test done, it was terrible. Up until that point the doctors said he had mild cerebral palsy. We took him to Childrens hosp. in Philadelphia were after many test they told us he has Hypomylination with atrophy of the basal ganglia and cerebellum. There is really not much they can do for it except try to treat the symptoms. He is also very bright and funny. He has a very giggley laugh that is contagious and he brightens up the room when he comes in. I pray you will find the name of your leukodystrophy I know how frustrating it is. Enjoy each day and GOD bless you and your children!

Sarina

Hi, I have un known leukodstrophy and have been tested over and over sense March 2008 and still don't know any thing. I have six children that are very likely to have it and they won't test them until they find out what kind I have. I know what your going through , I am so concerned for my children ,not myself. If it only was me that has it amd no chance that my children have it I would not worry so much. I sorry you going through this I will pray for you and your son that you will get answers very soon and god will give you the strenghth and grace to get through this and the healing for your son. God bless you and your family.. You can e-mail me at rlrsgr@yahoo.com.
Love Sarina

here4Matt

Lisa & Lynda~
Your stories sound very much like my son Matthew, who just turned 13. He was born robust, all mile-stones early. We have video of him running & climbing around a Discovery Zone on his 1st birthday. He had issues in preschool, which were attributed to ADHD. Then in Kindergarten (age 5), they noticed motor issues, but not bad. By 2nd grade, his ability on steps was almost dangerous, and now in 7th grade he has a full time aide in school to write, help him eat lunch, make sure he looks presentable coming out of the boy's room, etc. He's very smart, made honor roll in school. He is in 12-1-1 classes, but they follow the same curriculum in special setting. His sister (almost11) is fully healthy.
We went to the ULF conference last summer & got a lot of info! I recommend it. Matt's 2 MRIs no difference between them, which reveals that he has never had any white matter at all. His symptoms appear to be getting worse, but that's only because his body is getting bigger (altho he's still under 75 lbs) and more difficult to control his movements. I'm interested to know more about your boys.
-Kelley

Lisa44

Kelley - Yes, our boys do sound a lot alike. Keith's walking gait has deteriorated significantly in the last year. He is very small also. He is 12 and weighs 55 pounds. Where are your doctors located?

Andy12

Hi Kelley,
Your son Matt sounds very like Andy too. His walking ability has deteriorated over the last year particularly and now he cannot walk with out an aid such as walker or something to hang on to. He uses a wheelchair to get around at school and shopping centres where the distances are too much for him to walk.We had a very similar picture with the ADHD at preschool and earlier school life. He too is bright and this has not changed thankfully although his processing skills have decreased with his motor deterioration. The only evidence we have so far are the 3 brain MRI's that showed a white matter change in the middle of his cerebellum and possibly a spot on his brain stem . These haven't changed over the 3 years they were taken. However his clinical signs have with deteriorating walk. Every other test normal. What did you mean by no white matter?? Andy is smaller than if he had been healthy but with steroid treatment over our summer he has gained about 4.5 kgs and looks a lot healthier. He now weighs about 34kg and is about 144cm. Sorry I don't know the imperial equivalent.
Hope this helps and would be interested to know if Andy still fits the picture of your son.
with thanks Lynda

paulm68

Greetings,
Jeremiah (J), Our 18 year old began to have walking issues 6 years ago His doctor told us it was bi-lateral foot drop and he was fitted with plastic braces to correct the issue. No cause was given. He began to have absonce seizures and so neuro testing was performed. Diagnosis was palsy. a year later (J) began to have more problems with walking and more testing was ordered. At that point a brain scan revealed de-myelinization and we heard the term Leukodystrophy for the first time. A year later (J) was using a walker for long walks but school and church he was
un assisted. That summer J had a G M Seizure and his use of the walker increased. Today (J) is in a wheel chair. The Diagnosis Leukodystrophy. We then went on line to see what we were facing, and the tears flowed. (J) is now 18 and we still have no specifics. There must be an answer some where! The Muscle spasms in his legs are getting worse. The other day he lay in the middle of his bedroom floor crying, unable to pull his pants up he said to me,"I wish I could just cut them off" your pants I asked and he said "No, my legs." His core muscles are weakening and sitting upright is more of a chore.
CT's MRI's every year, Painful electric tests and no answer except "Your son has Leuko," Is there somthing we are not asking? Help if you can

Lisa44

I am very sorry to here about your son, J. His case seems different from my son. Has he been involved in any clinical trials? You might want to check an see if there are any around that would suit him. I'm just not sure about anything else you could check into at this time. Sorry I couldn't be of more help. Maybe someone else will read your message and have more information to share.

Lisa

cjackson

I have a daughter Brianna who just turned 2 in February and like everyone here she is are "mistery princess" she has had a muscle biopsy, spinal tab, 4 mri's, and blood work that could supply the red cross!!! Every test they have done comes back normal which we are happy but then again it puts us back at square 1. She is very behind she litterely still is are baby. She does not take anything by mouth Brianna is Gtube only. Brianna is my little trooper for only being 2 years old she has been through more then what I have been through in my life!!! But she is are traveling princess! She has been on more plane trips then some adults, and she love's her outings..

rheots25

I also have two children with an undiagnosed leukodystrophy. My daughter Haley who is almost 13 was diagnosed when she was 2 she also met all her milestones like any other child but when she learned to walk it was just not like other kids she had a wide gait and leaned forward a lot. She stopped walking in about 2003 after she had what there saying now is a siezure she did not wake up for 9 days and when she did she had to learn everything over talking, eating, walking with a walker. We now use a wheelchair because she has lost sooo much strength over the past couple of years. But within the past 2 years she has really shaky hands she trouble feeding herself or lifting a glass so she uses a straw to drink. She had a seizure in September and then again in October where she was for 2 days. Very fustrating watching my daughter slowly lose the ability to do simple everyday things. But she is a very happy almost teenager!! She is mainstreamed thru school for the most part. My son Matthew who is 10 was diagnosed when he was about 18 months. He stopped walking then he uses a wheelchair everyday too. He has not had any seizures or shaking like Haley. He is also mainstreamed thru school too. Both of their MRI's showed that the white matter of the brain was slowly changing Haleys past 3 have showed little or no change so I don't understand why her muscle strength is changing. I get so angry that we have no answers and I don't understand why this is happening I know that I have to keep believing that God has a plan for all of us but sometimes its just soo hard. I am just wondering if anyone else has had any of these symptoms too.
Thank you and God Bless

Debinmoon

God, my heart goes out to all of you....and it brings back so many memories for me. My son Dane did everything allright until he was 14 then he had gait disorder and then the slow decline and white matter changes. After 12 years of being tested for every kind of neurological problem, the doctors finally diagnosed undiagnosed leukodystrophy in 2006. My son died almost a year ago.

The only thing that ever really worked for him was a lot of massage and grape seed extract.
At this point my focus is putting pressure on legislature to keep funding research for rare disorders like leukodystrophies so we will have more answers instead of these same questions and similiar stories over and over again.
I just want to tell you...all the parents who are out there right now and in it, that I am with you in spirit and that my prayers and thoughts are with you, your children, your husbands, your wives, whoever.

The government really needs pressure to start looking at treatments that have been succesfully tried in other countries...anyone up for a little lobbying?

Deb Dennison

Debinmoon

God, this made me so sad again...to read the frustration and pain that you are experiencing and that of your son. Dane was very similiar and all I can say, is do as much physical therapy as you can for him, it really does help when there is nothing else offered,

Dane died just a year ago and sometimes looking back I wonder the same thing...did I ask the right questions. I know that I did, but take your son to ULF and get involved with the Krieger Kennedy Institute, I hear from others that they have gotten good neurologists and gained tremendous understanding from their interactions.

May it help you and you son.

Deb Dennison

AZIZ

Hello
I have two children (a boy aged 8 years and a girl aged 11 years) who are diagnosed with an unknown leukodystrophiy . I have read several articles regarding the use of stem cells for treatment (scale animal) (see the work of neurologist Steven Goldman of the University of Rochester Medical Center). I wonder if there are close opportunities for application to human scale
thank you

mason5852

I have a five year old daughter who initially suffered from a 30 minute siezure (when she was three) . At that time they did an MRI and thought that the siezure was caused from her brain being formed abnormally. Well, nine months later she had another 20 minute siezure. Another MRI was done and they diagnosed her with Luekodystrophy. They have run numerous blood tests on her and also linked her up with a nuerogenetisist to try to find out what is going on with her. They ran multiple test at Riley Hospital and were unable to come up with anything as all of the blood work came back normal. On April 17, 2009 my daughter began vomitting every morning. She just recently underwent another MRI on 5-13-09 and they found that again there were changes in the results. So now the doctors are stuck and don't know what to do other than more blood work.

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