I need some advice on where to turn now. My son has been diagnosed with undiagnosed leukodystrophy. He has seen 4 neurologist now and has had many tests done. We just went back to his current neurologist last week and he said that Bryce has been tested for all of the leukodystrophies and does not have any of them. He said that the thing that is stumping him right now is that his last MRI (his 3rd one done) was exactly the same as the one that was done 7 months before that one. He said that typically with the leukodystrophies, the depletion of the white matter continues instead of staying the same. He told us that he just doesn't know what else to do for Bryce. By reading a few other posts here, it looks like there is a Dr in the Netherlands who has helped a lot of you and some at KKI. I've also seen it suggested that people get in touch with the ULF. I am very sad to find that the conference was in July. I would have been there in a heartbeat if I had only known about it a few months ago. My son was diagnosed in June. Please help me know what I should do next. I am at such a loss and am not willing to just take "I don't know what to do with your son" as an answer. There must be someone out there who knows something about this! Thanks for your help!
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- By 2tired2think
- Posted October 9, 2009 at 7:11 pm · 8 replies
- In Undiagnosed - White matter disorders of unknown origin (UND)
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Explore topics in this discussion:
Leukodystrophies Weakness Dysmyelination Occupational therapy Leukodystrophy
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- By AA
- Posted October 9, 2009 at 7:44 pm
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On the ULF website there is information about trial for unknown leukodostrophies. Looks like you are qulified. If you cannot find it, let me know. I have their email address. I can give it to you.
- By 2tired2think
- Posted October 9, 2009 at 9:42 pm
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Thank you! I haven't seen that yet. I will look for it.
- By Andy12
- Posted October 17, 2009 at 6:50 am
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Hi,
We also have a son now 12 who has been undiagnosed for 3 1/2 years. He also has no change in the area affected ( his cerebellum) in 4 MRI's of his brain over this time period. However his clinical signs have deteriorated. In his case his lower limb walking has deteriorated to the point he now uses a wheelchair to get around outside of the home environment. He has also to a lesser degree upper body weakness. Cognitively he is very bright and this has not changed. He was involved in a study with a Dr in the Nederlands Dr Marjo Vander Knaap. She is a radiologist who specialises in identifying leukodystrophies and diagnosis from MRIs. Our sons was sent to her from our Neurologist in Sydney Australia and I'm sure you could ask your childs neurologist to send her your son's MRi's and details for a review. She diagnoses only but is regarded as a world expert in this area.Our son is still undiagnosed but was involved in a study of 12 other children with similar MRI's through her institute which suggested some possible association with another condition He is about to start a trial treatment following on from the outcomes of this trial. Everything is experimental with treatment options and over time we have come to realise there are no treatments or magical cures for most all these conditions at present but there is always hope for the future. We try and enjoy each day with our son and live life as normally as we can for his sake. Good luck with your journey and I hope you find some answers soon. Our christian faith gives us the strength to continue . May God bless and comfort you also.It is a jouney no one would wish to take. You are special parents to a beautiful young boy.
- By 2tired2think
- Posted October 17, 2009 at 8:53 am
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Andy12, thank you so much for your reply. I will have to look into getting his records sent to Dr. Vander Knapp. I talked to someone at ULF the other day and they will be sending us some information about the second opinion option as well. I don't know what will come of all of it, but at least I feel like it is something that I can do. That is one of the hardest things for me. I feel like I am just watching my son lose more and more abilities and I'm not able to do anything about it. It's just so frustrating! The only relief I get from that is knowing that it is completely in God's hands and that he knows what is going on and that he is watching over our son and the rest of our family. I find it interesting that your Son's MRIs have stayed the same throughout the years. His symptoms sound very similar to my son's. Do you have other children? We have 4 others who at this point do not have symptoms, but I often wonder if one of them might develop them someday. I sure hope not! Of the other 12 children involved in the study, were they close to the same age as your son, or were they of different ages? This disease seems so strange to me. Well, thanks again for sharing your experience with me. Good luck to you in the following trial. I hope things go well and that you find the answers you are seeking for as well. I would love to hear how things with the trial work out.
- By goodo
- Posted October 19, 2009 at 12:11 am
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hi we live in wentworth nsw australia
my grandson jacob is two and half and we are in the same boat as you, he has had 3 mris and all had been the same no changes. he also has had many tests and have seen 3 neurologists
jacob has nystagmus,dysmyelination bilateral but patchy abnormalities of the brain. they have all stated he has white matter disease. but we need to know more have scaned the internet for information but are very confused as the doctors say go home and enjoy jacob he will have learning difficulities and vision problems and may get worse but unable to tell when
jacob has a twin brother ben and a sister both are well thanks for listening goodo
- By goodo
- Posted October 19, 2009 at 12:24 am
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hi we live in wentworth nsw
you are so close so would like information about mardo vander knaap and the neurologist in sydney you went to .jacob is two and half and we go to adelaide childrens hospital and see dr p grattan-smith
jacbs has had 3 mris last on 12/10/2009 and all are the same show patchy high t2 signalchanges to white matter bilaterally consistent with dysmyelination or hypomyelination also immaturity of myelination in the front regionson each side. they told us to go hame and enjoy jacob as they didnt know if or when he could get worse. he has physo as his lehs are very stiff but we are confused with the doctors coments thanks goodo
- By Andy12
- Posted October 19, 2009 at 1:58 am
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HI Goodo,
Sorry to hear about your grandson. We initially saw Dr Grattan Smith at Childrens at Randwick. It was he that contacted Dr Marjo vander Knaap and subsequently had our son involved in a study she was running at the time. We also had a few other consults with other specialists. We now see a wonderful caring Dr at Westmead, Dr Jayne Antony Paed Neurologist. One of main reasons we changed was the attitude and lack of compassion shown by Dr Grattan Smith. His initial work up was very good but after that very difficult to deal with. That has been our experience and I can only say it is very important you are working with a Dr you can relate to and who understands and talks to you with respect and in terms you can understand. It is also very important to seek other opinions as these conditions are so rare that many eyes are better than one! We have also found there is little support out there and you have to seek help for individual issues as they arise. We have been able to get the support of the Rehabilitation Team at Westmead and they have provided support dealing with other issues walking aids, Physio and Occupational Therapy school assistance etc. This was not a choice at Childrens Randwick due to the attitude of our first Dr. I assume your grandson lives in Adelaide. There is an Australian leukodystrophy support group based in Melbourne. I haven't been able to access their services but you may find some support there.Good luck and if you have any other questions I would be happy help if I can.
- By goodo
- Posted October 19, 2009 at 6:56 am
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andy 12 hi
thanks for your reply passed this information on to my daughter donna and she would like to contact you
what was the result of the study with dr vander knaap also the experimental treatment you were going to trial did it work?
also contact number of dr vander knaap.
we found dr gratten-smith has no compassion and that he said he could do no more for jacob
your dr in sydney could we have her address also
we live in wentworth nsw but go to adelaide as it is closer than sydney.
jacob has all services in place and is a beautifull boy full of love for everyone
we are frightened of the future not knowing what is going to happen and will do anything to help him
thanks for you help goodo
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