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waiting 4 an answer

zoe4manaia-rain
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hi there,my daughter will be 2 in a few weeks and has been undergoing tests to try and find out which leuko disorder she has. the problem we have is that apart from her head tilt her wandering eyes and her MRI scan which shows several areas of abnormal white matter, she has hit all her milestones, and she is walking and talking as well as any other toddler her age. the neurologist said that by looking at what her scan shows she should not be a "normal child" and i wonder if anyone else has gone through a similar sitution, and what their outcome was?? i would love to hear from anyone thank you

Explore topics in this discussion:

Foot drop Anxiety Leukodystrophies Weakness Dysmyelination Nystagmus Speech therapy Leukodystrophy

12 replies

goodo

hi we have a 2 year old grandson jacob he has a twin ben and a 4year old sister claire which are healthy. jacob has undiagnosed leukodystrophy at age 8 months and has had 2 MRIS of the brain and has high signal on t2 and flair in the occipital regions of the white matter consistent with dysmyelination doctors connot exclude leukodystrophy on the basis of his MRI he also has nystagmus .but he is developing great and is a loving child. loves to run every were he goes .he is getting stiff in his legs and is having physo for this .we would love to know his future and what to do, but know one can tell us that he goes back childrens hospital in adelaide australia in october 2009 for more tests (goodo)

zoe4manaia-rain

hi, thanks for that. we are in new zealand so your alot closer than most other people i've been in touch with so far, our next step is another mri and byopsy's of her liver and muscle tissue, the one think i dont want to happen is for dr's to fob us off because they dont know what it is. her abnormalties are throughout her brain with 2 very large patches but im not sure where they are. i hate this waiting game!!!

miraclesofGod

my little girl has been diagnosed with mld on june 22 2009 and we had a normal chil untill she was 23 months and her eyes started croosing and she got operated and then after that she stopped crawling walking and till last month she was talking but stopped and now shes is having a g tube put in hope to hear from you soon

goodo

we were not given straight answers for a long time i feel the doctors are scared to try to predict the future of the disease, as leukodystrophy can go either way, at the moment with jacob we take one day at a time and he recieves physio and speech therapy once a month, get funding for these through early entervention, vision australia, department of aged care and disabilities, as physio is very important for there future. goodo

goodo

hi other blood tests jacob has are vitamin b12,bile acids, phytanic acid,white blood cell anzmes and long chain fatty acids goodo

zoe4manaia-rain

hi there,
i am very sad to hear of your daughters diagnoses and my heart truley goes out to your and your wee girl.
MLD is the only leuko so far that we know for sure Manaia-Rain does not have, but even knowing this doesn't make things any easier, the waiting and the not knowing is torture. i hope you and your girl are well looked after and i will keep you updated on our situation, take care

zoe4manaia-rain

sorry the above message is for miracles of god

zoe4manaia-rain

ok, interesting! i guess manaia-rain is an interesting case for them as she isn't a 'normal' case shes hit all milestones and according to her MRI she shouldn't be doing as well as she is. i cant wait til we have some answers!!!

miraclesofGod

thanks alot and have lots of faith in god he does miracles god bless and keep in touch

Andy12

Hi Zoe4manaia-rain and goodo
We have a now 12 year old son with an unknown leukodystrophy, first picked up on MRI in July 2006. Has been tested for all known leukodystrophies has none of these. I believe that up to 50% are undisagnosed. He developed normally until he started to show foot drop around 7 years,and subsequent lower limb weakening with some milder upper limb weakness. His MRI showed White matter change in the midline of his cerebellum and this has remained the same for the last 3 years although his clinical signs have deteriorated. I think it is important to understand that Dr's know very little about these diseases as it is such a new area of study and research. My GP (and other health proessionals) had never heard of this disease entity when our son was diagnosed and that is fairly typical. Also quite possibly our son and many of our children have changes in their brain from birth or early childhood but clinical signs may not appear until much later. Therefore it isn't until the symptoms warrant an MRI as clinical picture starts to change, something has triggered the changed gene to start playing up so to speak, in a way that warrants further investigate, an MRI is then done which shows change in white matter.We are no closer to a diagnosis and indeed I now think it can be a good thing. We are not boxed into a pattern of disease progression which in most cases is very generalised anyhow. These conditions all show variation in the way they present and it is very hard to predict what will happen with any particular child. Just reading the many posts on all these leukodystrophy stories on this site will show that.We are learning to enjoy our son now and live life today . We plan for the short term future and use physio, OT, Specialist advice etc along with much sourcing of help and advice by ourselves, to try and give him a good quality of life. This is a journey and I am greatly helped by my christian faith to try and remain strong for all the family It isn't easy, there was the earlier days, years of great anxiety and sadness and I'm not always the mother I would like to be, but I just try and do my best . Don't be too hard on yourselves. I have found little help specifically available for leukodystrophy in Australia and as a parent you will have to do the hardyards to find people and resources that can help but they are out there or you can make them happen.It certainly channels that anxious energy. We live in Sydney.
God bless you both and be open to all possibilites about where your children are headed. However overtime I pray that some of your anxiety may ease as we all try to enjoy the gift that is our children today

goodo

i to believe faith has been benificial to my family, as i am a single mum with 3 children all under 4, jacob has undiagnosed leukodystrophy and nystagmus with physio appts speech appts travelling back and forth to adelaide can be very draining but we have to think of our children and do what is in there best interest, although at times frustrating when new symptoms raise there head, i am lucky my mum helps when i need to spend one on one time with the other children. thankyou for you story it is lovely to know you are not alone.

goodo

i to believe faith has been benificial to my family, as i am a single mum with 3 children all under 4, jacob has undiagnosed leukodystrophy and nystagmus with physio appts speech appts travelling back and forth to adelaide can be very draining but we have to think of our children and do what is in there best interest, although at times frustrating when new symptoms raise there head, i am lucky my mum helps when i need to spend one on one time with the other children. thankyou for you story it is lovely to know you are not alone.

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