Guest guest Posted March 17, 2004 Report Share Posted March 17, 2004 my daughter who turned 16 mos old yesterday, I feel for you. Mine is 16 years old, and you are where we were about 15 years ago. Your child sounds exactly as mine looked back then. De-Arbra was a "floppy infant" and for the first 3 years of her life we were abused with various erroneous diagnoses ranging from cerebral palsey to Harnup's Disease to "-Lemli-Opitz" disease (the strangest of all because only blond blue eyed boys get this and my daughter is Black!) to "parental neglect" because she would not gain weight and met none of the expected milestones. "CPS" is a BAD WORD in our house!! She never did develop head and neck control, and wore a neck support until she was nearly 12 just to stay upright. She never crawled and can't to this day because she cannot raise her head against gravity. She cannot actively raise her arms above shoulder height. She walked first at 3 years old, but lacking endurance and balance she could only do so with assistance and for short distances of up to 20 feet and has used a wheelchair most of her life and a walker on good days. She has had chronic respiratory problems, no ocular muscle mobility, a clubbed foot (which we have finally convinced a surgeon to repair this summer!! Horray!), severe scoliosis requiring emergent surgery at age ten (she had 3 respiratory failures because her lungs collapsed) and a 1.7 cm hole in her heart which we thankfully had repaired at age 13 with the (then in clinical trials) Amplatzer device, sparing her open heart surgery. Getting her to eat and drink (vital with a metabolic disorder like this) has been a lifelong challenge. I have sometimes regretted not getting her the PEG tube, but now that she is 16 years old, with all manner of body image issues, I suppose it was best I didn't. I now learned that food avoidance is a part of this disease process: she too never cried for food or bottle, and once she started school if no one forced her to eat or drink she would go days without putting anything in her mouth (rendering her too weak to walk and ultimately causing her severe spinal deformity and respiratory failures). Teachers just could not be made to understand this is a metabolic disease and such a child cannot be ALLOWED to starve or dehydrate even if it means compelling them to eat and drink. I'd say "don't ask IF she wants something to drink, tell her it is TIME for a drink and offer the choice of what kind of juice". She knows the rules just as every diabetic child does: different disease, same idea and just as vital. Finally when she was 3 the geneticist we were seeing did a muscle biopsy and sent the samples to Dr DiMauro in NY, who gave us our first almost definitive diagnosis (although they mishandled the tissue samples and lost them twice and all they finally had to work from was a frozen sample -- you're not supposed to freeze samples for MITO studies). From there the geneticist (who was the only one in the whole state that had ever heard of mitochondrial disease) suggested CoQ10 (a whopping 30mg a day), and I did what research I could on the fledgling internet as it existed in 1990, finally finding the RTMDC (Resreach Trust for Mitochondrial Diseases in Children) in England (now called CLIMB) and corresponded with Greene via snail mail letters back and forth across the Atlantic ocean, and she told me about various resources and information and treatments that were being done. I couldn't have survived without this person. Neither would my daughter. I have spent the past 13 years advocating for this kid, learning what I could from anything anyone printed about it and trying my best to educate doctors, nurses, teachers, other parents ("oh I'd never force MY child to eat if they didn't want to" I say you would if you knew they'd DIE if you didn't!!). Today we have the most wonderful specialist, Dr. Saneto in Seattle, who I am happy to say teaches ME about my kid's problems which is as it should be. She walks with a walker, uses the wheelchair infrequently and only for long hauls like the mall or when we go to the hospital clinics, and lately walks without the walker more and more. I still have to make her eat and now we have the "oppositional teenager" component on top of it all. She uses a BiPap at night to maintain her lung volumes which are at best around 50% of normal (before the scoliosis surgery she was at 23%). Without the BiPap she loses volume by a few % each month and it's difficult to regain. 50% is the best she'll ever get now. She's having the clubbed foot repaired in June and hopefully she'll walk full time without the walker after that heals. OH and most importantly: they told me when she was a baby that 1) she was hopelessly retarded, 2) would never walk, and 3) would die before she reached school age. She is 16, healthy, happy except for being 16, and in normal 10th grade getting all A's and B's in classes such as HONORS ENGLISH and PHYSICS and GEOMETRY in 10th Grade. So don't give up hope, learn all you can, fight for your kid and demand the best: the more you know the more you are able to advocate for your child against a world of apathy and ignorance. Our Treatment (she has 3 deficiencies you'd think I could remember which 3 but I don't, no actual point mutations or deletions): Creatine 7.2 grams a day, Carnitor 1300mg a day, coQ10 600mg a day, Biotin 7500mcg a day, B2 300mg a day and a "B100" combination of B vits 100 mg each, selenium 100mcg a day, ACES (ocuvite or whatever is on sale) and extra Vit E 200mg a day, and then her inhaler (respiratory med). Most of these I started on my own based on research papers Greene sent me in 1991, although they have evolved over the years. HEY guess what: CoQ10 is an ORPHAN DRUG!! That means like Carnitor (which we used to have to get in the health food store) it can be got by pre$cription (ie paid by insurance or Medicaid) it is called UBIQGEL by Tishcon Corp. Check it out!! I will when we see Dr S on Friday. KJ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 12, 2006 Report Share Posted June 12, 2006 I saw the group on line. I have had Neurosarcoidosis since 2000. Probably before that but they had to go through a couple other diagnoses first. I have been on Disability since June of 2004. I was a nurse and it is getting harder and harder for me to walk. So, I had to quit working. I use a cane but I fall frequently. Stairs are a real bummer. I am on lots of meds, many of the meds didn't work for me. Thank goodness I have good doctors. Since I left work I have felt alone in spite of my family. I have never been a Joiner, it really isn't like me to be part of a group like this but I thought, " what could it hurt? " to see how other people with the same illness are handling it. So here I am, taking a chance. Barb J. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 15, 2006 Report Share Posted August 15, 2006 , I was diagnosed with neurosarcoid over a year ago, and have been on prednisone for that time. Docters tried Imuran but side effects were overwhelming, and so I was put on methotrexate about three months ago, but my most recent MRI indicates that I have stopped responding to treatment and I have no insurance is there anywhere I can find some sort of help. Oh, yeah Social security has continued to deny my claim, any help with that would be appreciated as well. Hello Graydragon, Welcome to the group. You are in a very good place to learn about your sarcoidosis, and the different treatments that are available. I see that you've got one big problem-- no insurance. Do you qualify for Medicaid-- (I'm assuming you're here in the US). Each state has a Medicaid or MediCal (in California) program for uninsured people with limited income. SSDI is possible to get, but you'll have to have documentation that you have NS-- Neuropsych testing, MRI's and CT's showing the sarcoidosis, EMG's, (nerve conduction tests) and a comprehensive letter from your MD's that explain that you have IE. short-term memory loss, dementia, peripheral neuropathy, sarcoid -induced arthritis, etc. Pulmonary function tests showing loss of diffusion capacity. I have written numerous emails on SSDI and how to apply, appeal your denials (DO NOT LET THE TIME FRAME LIMITS LAPSE- OR YOU WILL START OVER WITH A NEW START DATE). You can find these emails in our ARCHIVES and LINKS. Here is the site address: Hello, I was diagnosed with neurosarcoid over a year ago, and have been on prednisone for that time. Docters tried Imuran but side effects were overwhelming, and so I was put on methotrexate about three months ago, but my most recent MRI indicates that I have stopped responding to treatment and I have no insurance is there anywhere I can find some sort of help. Oh, yeah Social security has continued to deny my claim, any help with that would be appreciated as well. ~~~~ *** ~~~ *** ~~~ *** ~~~~ The Neurosarcoidosis Community NS CHAT:- FAITH CHATS: WEDNESDAY 9PM EST. 8PM CENTRAL. 6PM PST SUNDAY 12 MIDNIGHT EST. 11PM CENTRAL. 9PM PST OPEN CHATS: THURSDAY 9PM EST. 8PM CENTRAL. 6PM PST SUNDAY 4PM EST. 3PM CENTRAL. 1PM PST CHATROOM LINK: http://www.emxpc.net/chat/index.php Message Archives:- http://groups.yahoo.com/group/Neurosarcoidosis/messages Members Database:- Listings of locations, phone numbers, and instant messengers. http://groups.yahoo.com/group/Neurosarcoidosis/database Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 15, 2006 Report Share Posted August 15, 2006 , I was diagnosed with neurosarcoid over a year ago, and have been on prednisone for that time. Docters tried Imuran but side effects were overwhelming, and so I was put on methotrexate about three months ago, but my most recent MRI indicates that I have stopped responding to treatment and I have no insurance is there anywhere I can find some sort of help. Oh, yeah Social security has continued to deny my claim, any help with that would be appreciated as well. Hello Graydragon, Welcome to the group. You are in a very good place to learn about your sarcoidosis, and the different treatments that are available. I see that you've got one big problem-- no insurance. Do you qualify for Medicaid-- (I'm assuming you're here in the US). Each state has a Medicaid or MediCal (in California) program for uninsured people with limited income. SSDI is possible to get, but you'll have to have documentation that you have NS-- Neuropsych testing, MRI's and CT's showing the sarcoidosis, EMG's, (nerve conduction tests) and a comprehensive letter from your MD's that explain that you have IE. short-term memory loss, dementia, peripheral neuropathy, sarcoid -induced arthritis, etc. Pulmonary function tests showing loss of diffusion capacity. I have written numerous emails on SSDI and how to apply, appeal your denials (DO NOT LET THE TIME FRAME LIMITS LAPSE- OR YOU WILL START OVER WITH A NEW START DATE). You can find these emails in our ARCHIVES and LINKS. Here is the site address: Hello, I was diagnosed with neurosarcoid over a year ago, and have been on prednisone for that time. Docters tried Imuran but side effects were overwhelming, and so I was put on methotrexate about three months ago, but my most recent MRI indicates that I have stopped responding to treatment and I have no insurance is there anywhere I can find some sort of help. Oh, yeah Social security has continued to deny my claim, any help with that would be appreciated as well. ~~~~ *** ~~~ *** ~~~ *** ~~~~ The Neurosarcoidosis Community NS CHAT:- FAITH CHATS: WEDNESDAY 9PM EST. 8PM CENTRAL. 6PM PST SUNDAY 12 MIDNIGHT EST. 11PM CENTRAL. 9PM PST OPEN CHATS: THURSDAY 9PM EST. 8PM CENTRAL. 6PM PST SUNDAY 4PM EST. 3PM CENTRAL. 1PM PST CHATROOM LINK: http://www.emxpc.net/chat/index.php Message Archives:- http://groups.yahoo.com/group/Neurosarcoidosis/messages Members Database:- Listings of locations, phone numbers, and instant messengers. http://groups.yahoo.com/group/Neurosarcoidosis/database Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 15, 2006 Report Share Posted August 15, 2006 Hello Wayne, Welcome to the best bunch of people you would ever want to know. The only drawback is we all have sarc. Now to the question, medication can be obtained from NeedyMeds.com. when you don't have insurance. All you have to do is pull up the site, pick the medication you are on and pull the info on how to apply for it. The other place you might want to look into if you are still in the work arena is voc rehab for medical & prescription help. They are a state agency, tax based so you have already paid for the services, and they are great. Hope the info helps, and hope your doing better soon.....Connie (Florida) --- Wayne greydragon_69@...> wrote: > Hello, I was diagnosed with neurosarcoid over a year > ago, and have > been on prednisone for that time. Docters tried > Imuran but side > effects were overwhelming, and so I was put on > methotrexate about > three months ago, but my most recent MRI indicates > that I have stopped > responding to treatment and I have no insurance is > there anywhere I > can find some sort of help. Oh, yeah Social > security has continued to > deny my claim, any help with that would be > appreciated as well. > > > > > __________________________________________________ Quote Link to comment Share on other sites More sharing options...
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