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Nattyneedshelp
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My 23 year old sister has just been diagnosed with a form of leukodystrophy, they are currently testing the sub type.. We are so confused... There is NO instance of this in our family on BOTH sides of the tree.. Has this happened to anyone before? I have noticed that most of these posts mention who is affected within the genetic pool, ie, my mother and two brothers have it etc.. So, now I am completely terrified for my sister, my family and myself.. Can anyone help shed some light?
I've done so much reading on the net that everything is getting jumbled and I'm exhausted. Please help us!

Natalie

Explore topics in this discussion:

Cancer Surgery Dementia Confusion Nystagmus Tube feeding Spasticity Bone marrow transplant Leukodystrophies Pain Weakness Memory Leukodystrophy

14 replies

jolocny

Hi Natalie!
Your family has joined a very small group ~ I was told 4 years ago that I was one of 14 families in North America that had this situation ... now 15 (I'm sure more by now!)!! I'd been working with the Kennedy Krieger group at John Hopkins (the study is now stopped) and was told that this happened at my conception - the X-chromosone from my father mutated and I was affected. I have 4 bros and 1 sister ~ none have the gene! Also good news ... my daughter and g'dtr don't have it either. My son hasn't been tested but the geneticists don't think it's likely.
There's a lot of info out there and, as usual, it gets us awfully upset. I found that there wasn't much that actually pertained to women and how we respond to ALD/AMN (my leukodystrophy).
Your sister was diagnosed early ~ what symptoms does she have?
Leukodystophy was often misdiagnosed as MS or one of the other neuromuscular diseases for many years - it'd be difficult to redetermine the diagnosis of any family that are deceased. We now question the illness of 2 males that passed over 50 years ago. Who's to know??
I understand the extreme upset that you're feeling. I had a few years that I just thought that I was going crazy bec. no one knew what was happening. After I went through 5 months of tests at Strong Hospital in Rochester, NY (they continue to test until they've ruled out illness that may complicate the diagnosis) I was told that I had ALD/AMN. I was then referred to Kennedy Krieger (KKI).
Best of luck with all the tests that your sister will have, I hope they get it all broken down for her. It IS better to know what it isn't, too!
If you'd like to reach me directly my email is joann@twcny.rr.com.
All my best,
JoAnn

Hotsparks

Hi Natalie!

What are your sister's symptoms? I hope you find some answers soon.

My husband James has CTX - I think the last count I heard was that there are about 52 people in the U.S. but there may be a few more now. James was actually diagnosed with MS at the age of 27 and after four years, seven doctors and countless tests, therapies, etc. the doctors figured out it wasn't MS, but it was CTX. He started having symptoms around 19 years old - toe drop, loss of coordination, etc. - progressing slowly. It was a long, scary road and we felt very alone. Be assured you are not alone! We are fortunate that there is medication available to help prevent further deterioration for CTX.

Leukodystrophies are genetic, and like JoAnn, we are now questioning some previous deaths in the families. It depends on the specific leukodystrophy how it is passed down. For example, my husband is the youngest of seven children with the same mother and father. CTX is autosomal recessive, which means that to actually have the illness you must get two recessive genes, one from each parent. Each child had a one in four chance of actually having the illness. My husband is the only one in his family to actually have it. Both of our children will be carriers, since they will each have one recessive gene from their father.

I know you are exhausted and it's all very confusing. We are here to listen and to help! We've all been through this "odyssey" to find answers!

All my best,
Shawn

Nolans

Hi Natalie,
Our son Fraser (now 19) was diagnosed with "Leukodystrophy Unidentified" a few years ago having been barking up the wrong trees for a while.
We have no traceable history of anything remotely resembling this condition in either family. I'm Irish, Camille was born in Trinidad. It is virtually impossible to identify which gene is affected. We do know that Fraser does not have Pelizaus Mersbacher disease because the gene that is affected under this condition has been identified and that gene in Fraser was tested and is fine.
All advice from professionals to date is to the effect that the chances of either of us or our grandchildren (we have another son, Lucas) presenting with the same symptoms is too remote to worry about.
I personally suspect that whilst Lucas may be a carrier; something has to trigger the degeneration process and he would have to make babies with another carrier to have any realistic risk of things going wrong again.
Cliff

lexismom

My six year old daughter was diagnosed at 24 mths with CACH a rare type of Leukodystrophy. Just like your family, there are no other members of our families that have ever had anything like this. There is still alot they do not know about these horrible disorders, but there are studies going on all the time. What symptoms does your sister have? What doctors has she seen? I have just recently spoke to a doctor in the Netherlands who actually was one of the doctors who diagnosed this disease. I am going to be speaking to her more and my daughter is going to be apart of the clinical program. I will gladly let you know of any new news that I find out. Please tell your sister my prayers are with you.

TaSad

I'm so sorry to hear this about your sister. I , too , would like to hear symptoms your sister is having. I have a 13 month old daughter who they think has MLC, a form of leukodystrophy. All the doctors keep saying is there is a very large range of symptoms that could occur so they can't give a prognosis. It is very scary b/c she is showing no symptoms yet. Which one are they testing for? The Kennedy Krieger Institute i've heard is good as is Dr.Van Der Knaap in Amsterdam. I can get you their contact info if you need. We as well have no instance of any of this in neither my husband nor my family tree. I have bad migraines but apparently 27 million people have those.Does anyone in your family have migraines?

MBA28

LD is a very mysterious disease with so many variations. Our daughter has CACH which means that both parents had to have the same defective gene. The chances of this occuring are minimal. In researching your family you may need to look for a situation where both parents have the defective gene and it resulted in a child with LD. Otherwise you may have had only a carrier.

Nattyneedshelp

Hello.

Firstly, I would like to thank you all so much for your replies, given what you are all going through, it means a great deal that you could take the time to help me. I will be sure to include you all in my prayers.. Human kindness is a wonderful thing and it's times like these that you discover just how important it is!

I am just going to reply in one long post, rather than separately. My head is in a spin.

So, here's the rest of the story..

We live in Sydney Australia and for some reason (probably population) leukodystrophy is even more incredibly rare. Our current Neurologist has only ever seen 2 cases before my sister in 15 years of practice.

Yesterday we had a meeting at the hospital and were given the diagnosis of Metachromatic Leukodystrophy.

So far, physical symptoms include spasticity in the legs and a little in the arms. Her legs shake if they are hanging off the side of the bed or chair for too long or when she is in the shower. (this has escalated in the past 10 days since she has been in hospital and I am wondering if it is because she is suck in bed all day and has more muscle weakness from lack of movement). Throughout her childhood she was said to have a mild learning disability, and was coined ADD for many years.. She has been agressive and frustrated many times during her life... And we were informed it was a part of her learning and behavioral disability. Clearly, it was more than that!

In addition to this, she has a pituitory gland tumor and there is a note on her file indicating Gullian Barre Syndrome. At this stage they don't appear concerned with that.. They have sent an endochrine team to look at the pituitary issue. She has had her period for more than two years. Approx 23-25 days a month and we were told it was due to weight gain and having polycystic ovaries. Arrrrrgh!!!! Now we know it is the gland.

In addition to this, she has experienced tummy upset and needing to use the bathroom a lot, but all of her samples have shown nothing.

Anyway, we now don't know what to do.. We were told yesterday to bring her home as soon as the house is ready for her, as there is nothing more they can do.. When asked what time frame we are looking at as far as life expectancy, he told us 'given the rapid onset and level of deterioration, it doesn't appear to be long'.

The strangest part is, we are meant to be experiencing mood changes for the worst and deterioration in speech and cognition, but this has IMPROVED if anything. For much of the past 10 years Lauren was a difficult person to get along with and would come out with some strange things that would make you cringe.. But, now.. You can hold a really decent conversation with her and she has a sense of humor and vocabulary RARELY exhibited before.

We have done a full family history and there has been no diagnosis of anything other than cancer, heart and dementia (with death in their 60's to 90's).

So, this doctor is telling us it is just a rare and unlikely turn of events and we should not expect either of us siblings to have it... As if that is much of a consollation!!!!!


Has anyone else come across this before? I'm so scared and confused and would appreciate your input and advice!!!

God Bless you all!!

Natalie (neilnnat08@gmail.com)

P.S He also mentioned bone marrow transplant, but as far as I have researched, this is only useful for people in the early stages.. Which according to this doctor, she is apparently not!

26jmld

Hi, My daughter was 9 years old when they told me she had juvenile metachromatic leukodystrophy. When she started out at 5 they told use she was slow in school. Then she started falling down. when they put her in the hosp. she was haveing a lot of shaking in her legs and arms. then they digno. her and they told me she was going down so fast that they only thought she would live 2 years. She is 27 years old now. But she is none verbal, none moble, no blader or bowl control, blind, tub feed she is bed bound and total care. I try to keep her laughing as much as posible and do a lot of praying. but the bigest thing is love, care, laughter. I also tell her to fite to the end. We also researched family history no one else has it. They do say I am a career.

Nolans

Hi Natalie,
Wow !
And 26jmld, what a labour of love !
I fear we are looking down the barrel of a similar gun.
I cannot believe that your sister has got improved speech & cognition. That goes totally against expectation.
At the ULF conference in July this year there was an interesting presentation by aunrelated pair of parents talking about tube feeding. One had decided to go with it and prolonged the life of their dependent for a few years. They had the financial resources or state support to provide some quality of life. The other person decided against tube feeding with the inevitable result that their dependent passed away within a week or two, apparently without distress to anyone other than the care giver.
Who knows what is best ?
Your reporting of early flawed interpretations of how your sister presented to the medical profession strikes a chord. Here in Barbados there have been no cases like ours. Fraser's neurologist remembers one case and the family re-located in the hope of finding better care elsewhere.
In a last gasp effort to find some "ese" to Fraser's situation we are having a spinal tap done on him this weekend. Dr. Raymond at KKI has a thought that he may be suffering from high pressure in the spinal cord so drawing off some fluid might have an impact. We'll see. I'm not putting any money on it.
Cliff

IreneG

Natalie, Our stories are very similar. Although my daughter does not have Metachromatic, her symptoms were so close that they did think at first this is what she had. My daughter began displaying symptoms (physical symptoms) at around age 22. Her gait was affected as her left knee was hyperextending. I thought she'd need knee surgery, and probably had hurt her knee in a fall (she had been falling) not knowing what could cause that problem. Within a couple of months, the other knee was doing the same, and now, 6 years later, she is in a wheelchair, but holding her own. She was tested for every known Leukodystrophy and the doctors at ULF finally surmised she has a rare form of Leukodystrophy called Anterior Thining of the Corpus Callosum with Dementia (SPG11), and given MRI and symptoms, they are confident in the diagnosis. She had comprehension problems all throughout her life and I used to say she was "young for her age", but now know the cause. In other areas she remains bright (vocabulary and memory), but lately becomes almost childlike in other areas. Her comprehension is problematic. Her behavior in her early 20's was really, really difficult. I now know what was causing it, but now she is o.k., very easy going and adapted to her situation. She too has hormone and weight problems. They said "we don't know why, could be the Leukodystrophy", and the Endocronologist has treated it by balancing her hormones with medication, but I have wondered what caused it. I have two other daughters, older than Becky, who are totally healthy. I know my family history going way back, and there is no other incidence of this in our families. This disorder is recessive genetic, and so the chances of my other daughters passing it on are nearly next to impossible. Metachromatic Leukodystrophy is also recessive, which may be why you also know of no history in your family. I wish you well in your search for help and understanding of your daughter's condition. Even at the Cleveland Clinic, in our area, not all doctors are familiar with Leukodystrophy, but we've met many neurologists who are familiar, through ULF, in Boston (Massachusetts General Hospital), Kennedy Kreiger, and elsewhere around the world. If you have not already, contact ULF at www.ulf.org for information and names. ULF is an amazing organization. Best regards, Irene

RobinB

Hi. My boyfriend was diagnosed with a rare form of leukodystrophy this summer. There is no trace of it in his family. It seems to me that leukodystrophies are hard for doctors to understand. I wish I could help you more. Try not to drive yourself crazy looking on the internet, because I have done the same thing.

goodo

hi natalie
we live in wentworth nsw australia, my grandson jacob is a twin will be 3 in december and has white matter disease has had 3 diagnosis(leukodystrophie, pelizaeus merzbacher disease, white matter disease) STILL NO ONE KNOWS, has had 3 mris last one 12/10/2009 in adelaide childrens hospital his neurologists are dr gratten-smith,dr suzanna thompson,they have sent his tests on to dr marjo van der knapp in amsterdam for her to look at.
jacob has physo, speech, and ot. he looks like his twin but speech is a problem, and has very stiff legs but walks well,has nystagmus, he crys for no reason? pain as he is unable to tell us.his twin and his sister age 5 are not effected no histroy in either families.---- goodo

2tired2think

Hi Natalie,
We are also in that same boat. My son will be 3 in January and was diagnosed with undiagnosed leukodystrophy this past June after a year of testing and confusion. Unfortunately we still don't have any idea which type of LD he has and his "team" of doctors here in phoenix doesn't even know what else to do for him at this point. He was devloping fine until he was 18 months old and then began to regress. He can no longer sit, stand, crawl, walk, talk, or even roll over. He recently had a gtube placed for feeding. Cognitively he still apears to be just like any other 2 year old, he seems to understand everything that is going on around him, but physically he can do less than his 5 month old sister. It is so sad and frustrating! I understand your fear. Other than Bryce, we have 4 other children who seem to be unaffected and we cannot find any signs of anything like this disease in either one of our family lines. It just makes no sense. And I am so worried that one of our other children may begin to show signs of it sometime in the future. I just don't know. I'm sorry that I do not have any answers for you. I just wanted you to know that I too understand some of what you are going through. Good luck with your journey. We will add you and your family to our prayers!

DesisMom

My daughter just turned 16 yesterday and a year ago was "normal." She has been deteriorating since May this year. She has had every blood test imaginable, EEG's, MRI's, nerve tests and even a brain biopsy where they took out a one inch cube of her brain. They really don't know what is causing her disease. They have given us a diagnosis of dementia due to anti-body mediated leukoencephalopathy. Her brain is very similar to an Alzheimer's patient. She is functioning at a first/second grade level. She has no bladder/bowel control and her short term memory is gone. If it didn't happen a year ago than it is gone. We have no family history of anything like this. We have lots of auto immune type diseases but nothing like this. They did a full genetic work up on her, myself and her dad. Her two brothers are fine. We to wonder about any future family. My oldest son is getting married in April and his wife is a little worried. Every day is different from the day before and I have had to quit working to take care of her. I look at these postings to see if anything is out there to help. All I can say is to have faith and love unconditionally. When Desi acts up and starts being rude I keep thinking to myself that it really isn't her that is talking to me. It is what is left of her. God Bless !!

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