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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

lisajo

do you think it is best to be referd to the clinical trials and the so called experts in another state.or do they do the same thing that the neurologist does here .And if they do refer you to an expert in another state are there ways to get there when you cant afford the trip yourself?

mason5852

My daughter Jocelyn has also been diagnosed with a Leukodystrophy. She has had a countless number of blood tests done and everything has come back negative. The last test we had done was to test for Alexander's Disease. We are still waiting for these results to come back. They should be in either this week or next. It is scary. I want the tests to come back negative but at the same time if they do then we are right back where we started with not knowing for sure what is going on with her...

goodo

hi we live in australia and have a grandson jacob which is a twin and he has a sister claire which are both healthy. jacob was diagnosed with un diagnosed leukodystrophy in adelaide when he was 8 months old now jacob is 2years old and is vision impaired but has very little symptoms he is having physo as he is very stiff in his limbs. he is unable to put words into sentences yet, he has had 2 MRIs and show high signals on 2T and flair in both occipital regions. involving white matter consistent with dysmyelination we would like to know what will hapen in the future to jacob but no one knows .

(goodo)


















9

Nolans

Hi Deb Dennison.
Our son is now 19 and we have been dealing with the "issues" since his 1s, prolonged, seizure 10 years ago.
Fraser has continued to deteriorate to the point where we can no longer understand his speech and he has resorted to a wheelchair. Hard as it may be can you please let us know what happened that caused your child to die ? You of all people will appreciate the question. We need to prepare and allocate resources. I'll be at the Symposium this week.

Debinmoon

Dear Lisa and all the other parents who are reading this,

Well, as you can see you are definately not alone. My son, Dane was a bright young boy, who seemed clumsy as a older child. He was diagnosed with spastic paraperesis of unknown etiology and we hoped for the best.

Did a lot of research, gave him organic food, sent him to practioners of every sort, had all the therapies and still he got worse.

He sounds like so many other kids here. I cried when I read the story of "J" saying he wanted his legs cut off, because I remember so well Dane saying the same thing.

Dane died last year at home at 29 years of age. Diagnosis. Undiagnosed leukodystrophy.

I would say to all of you, I know that you are tired, but your fight for your children must be tireless. Ask whatever questions occur to you even when you think they might sound stupid. when they say, undiagnosed leukodystrophy, ask if they will write a referral for any center of your choice that specializes in leukodystrophies.

Educate yourself as much as you can and then ask yourself again what question has gone unanswered.
And keep asking it of the practioners.

I believe that all leukodystrophies have variations to each individual affected, but that the similarities over ride the differences. Not all leukodystrophies are actually genetic.....go figure what that might actually mean!

I am sorry to welcome you into this sad family but rmember....you really aren't alone.

Bless you,

Deb Dennison

Debinmoon

Dear Lisa and all the other parents who are reading this,

Well, as you can see you are definately not alone. My son, Dane was a bright young boy, who seemed clumsy as a older child. He was diagnosed with spastic paraperesis of unknown etiology and we hoped for the best.

Did a lot of research, gave him organic food, sent him to practioners of every sort, had all the therapies and still he got worse.

He sounds like so many other kids here. I cried when I read the story of "J" saying he wanted his legs cut off, because I remember so well Dane saying the same thing.

Dane died last year at home at 29 years of age. Diagnosis. Undiagnosed leukodystrophy.

I would say to all of you, I know that you are tired, but your fight for your children must be tireless. Ask whatever questions occur to you even when you think they might sound stupid. when they say, undiagnosed leukodystrophy, ask if they will write a referral for any center of your choice that specializes in leukodystrophies.

Educate yourself as much as you can and then ask yourself again what question has gone unanswered.
And keep asking it of the practioners.

I believe that all leukodystrophies have variations to each individual affected, but that the similarities over ride the differences. Not all leukodystrophies are actually genetic.....go figure what that might actually mean!

I am sorry to welcome you into this sad family but rmember....you really aren't alone.

Bless you,

Deb Dennison

TaSad

Hi. We have a 10 mo old daughter who has had 1 MRI showing white matter abnnormality but showing no symptoms yet. I have been reading so much on leukodystrophy to see what we are up against. Its so good to hear that your son is functioning so well. How far apart were his 2 MRIs? Would you say the special help is receiving is benefiting him? Hopefully, he'll improve as time goes on as he seems to be a very bright and happy boy already!:)

Robbysmom

Dr. Naidu at Kennedy Krieger is an excellent neurologist who specializes in Leukodystrophies. She sees my 4/12 yr old son for an unclassified luekoodystrophy. He is one of 13 children they have found with similar MRI findings. They are a wonderful well knowledeged hospital and docs.
My son is very imparied and disabled by his unknown Luekodystrophy but he is an amazing boy who has surprised us all.

sjm

Dear Drmomma
please could you tell me if your son had the VLCFA test for ALD, is this the one where you had two different results one neg and one positive? Did you have the testing done at the KKI? I am waiting for results from KKI. I thought that test was pretty accurate for males. I can't afford the complete DNA test. Did you have this one done too?
I am sorry your son is in such pain. I hope you can find him some relief. All of these leukodystrophies are so horrible and unfair.

gannymom

Hi to all!! New to your site, my grandson is 2 1/2, spent a year trying all kinds of things for "autism", had regressive speech delay, other repetitive behaviors, "odd"posturing, then he had a seizure?, so MRI revealed leukodystrophy. We have had blood work to identify specific, waiting for that, but I see a common thread that many are not specifically diagnosed, we are hoping for specific for more information because my daughter is expecting second child in september, hoping for use of cord blood stem cell transfusion, we are still reeling from the emotinal roller-coaster of the shock of the diagnosis, but thankful to find places like this, and know that God's grace will lead us all through this path, prayers for all.
I'm a neontatal nurse, so I try to do the research and looking for all the information I can find. It's too much, just need site like this for information from those like you who actually experience this.

drmomma

Hi,

Thanks for you post, I can relate. My son is 17 and though he has had some mild symptoms earlier in life, over the last 9 months much more muscle atrophy and severe cramping, in fact, my son commented he wish he could cut his arms off. We are waiting for final dianosis, they have tested for everything and one ALD test pos, one neg. Wither ALD or ALS. Does your child have any issues with his arms/hands, neck, face?

Thanks,

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.

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

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

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

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

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..

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

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

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

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