Hi everyone, hope you are well. So here’s my story and question. I’ve had Crohns Disease for 11 years. I’ve been on Humira for the past 7, and for anybody who has heard the side effects of Humira you’d be like why take this drug. Sounds like it would do more harm than good. Anyway, one side effect is nervous system disorders. So Easter Sunday of 2012 I fell at church. And because of falling and having alot of other symptoms like trouble with balance, muscle spasms and twitches the doctors tested me for MS which came back negative. But a doctor who deals with ataxia looked at my MRI coupled with my family history and test of what I could do in the office he said he thought it was SCA2, which is on my dad’s side. I’m overwhelmed. That doctor said theres meds, but he doesn’t want to put me on them. Since he really doesn’t tell me anything I’ve not gone back to him.
Questions:
What should I look for in a doctor?
Should I get genetic testing to make sure Humira has no part in this and that its really sca2?
In 2012 I was 28. My dad was in his 40’s when he started showing signs. What does research show for the young people who get it, and when it is passed from my dad as opposed to my mom?
Thanks,
Lori
Dear Lori, Hope you are doing well! My daughter Johanna was diagnosed with ataxia when she was 13. I had never heard of the sickness before! Not even the word! I live in Venezuela and herw she had all the genetic test done. However ger diagnose is still not clear. Nie she’s 22. Struggling with balance and swallowing. She rakes coenzyme q 10, supposed to have a lack of this enzyme. In the states and England I guess you can find mire info. Yes do all the tests you can. And talk to Dr. TOM over this link where we all share! Im here for you whenever you need to ralj and share! ! Lots if love…Hope you have a great Easter!!!
Hi Lori:-)
If your Doctor specialises in Ataxia, he would have done a genetic test to confirm
you had SCA2. An MRI would show Cerebellar Atrophy, which is consistent with
Ataxia but it doesn’t indicate which type.
As you probably already know, there isn’t any medication specifically for Ataxia.
There are treatments and medication to help cope with the symptoms.
You may have only been asked to do ‘finger touching nose’ exercises etc for the
Doctor, he may not have tested your blood to confirm SCA2. For peace of mind
you need to get this sorted, otherwise the stress is going to aggravate symptoms.
xB
They tested my aunt and she had sca2. Would they need to test me too? Wouldn’t it be the same?
Beryl Park said:
Hi Lori:-)
If your Doctor specialises in Ataxia, he would have done a genetic test to confirm
you had SCA2. An MRI would show Cerebellar Atrophy, which is consistent with
Ataxia but it doesn’t indicate which type.
As you probably already know, there isn’t any medication specifically for Ataxia.
There are treatments and medication to help cope with the symptoms.
You may have only been asked to do ‘finger touching nose’ exercises etc for the
Doctor, he may not have tested your blood to confirm SCA2. For peace of mind
you need to get this sorted, otherwise the stress is going to aggravate symptoms.
xB
Lori,
You way want to also visit this website.
It has some good information. Although there is no substitute
for the support of friends here!
The National Ataxia Foundation (NAF) is committed
to education about ataxia, service to individuals
affected with the various forms of ataxia, and
promoting and funding research to find the causes,
better treatments, and a cure for ataxia. NAF can help
by providing information for you, your family and your
physician about ataxia. NAF does encourage you to
visit our website at www.ataxia.org for additional
information on ataxia, a listing of ataxia support
groups, online chat groups, and more. For additional
questions please contact NAF using the contact
information listed below.
National Ataxia Foundation
2600 Fernbrook Lane, Suite 119
Minneapolis, MN 55447-4752
Phone: (763) ■■■■■■■■
Fax: (763) ■■■■■■■■
E-mail: naf @ataxia.org
Website: www.ataxia.org
There is one thing you should know magnesium is a cofactor for a lot of vitamins such as vitamin B1, B12, D etc. If you are deficient in magnesium vitamin B1 thiamine vitamins donot function correctly in the body. Here is a article by PubMed a national medical library. http://www.ncbi.nlm.nih.gov/pubmed/4050546 SCA2 is prone to nocturnal cramps magnesium address
this problem. I had great success going to a MD doctor who specializes in nutrition. Since you have a diagnostic of your condition it would be wise to get the best nutrition possible. I have ataxia due to thiamine deficiency.a MD doctor who specializes in nutrition found my
problem on the first visit after over 16 years going to neurologists.
Each child of a person who has SCA2 has a 50% chance of having the gene.
Nothing is conclusive unless a diagnostic test is done. But, you aren’t obliged
to have the test. As Debora has already pointed out, the costs may not be
covered by insurance, you need to know for certain before deciding either way.
Something else to bear in mind, once you have a definite diagnosis it usually
has to be disclosed to your Vehicle Licensing Authority.
You already have to contend with possible side effects from medication, it’s
safer to have it confirmed one way or the other about SCA2. xB
Crohn's disease is a autoimmune disease it can be managed by proper diet that is why I mentioned a MD doctor who specializes in nutrition.
Hi Lori,
If you are looking for an Ataxia Specialist, check out the NAF website given to you by Debora Warner. They have a listing of doctors by state. I saw on your profile that you are in Tennessee. They have two Ataxia clinics there, and I believe a Movement Disorders clinic too.
I hope you find the answer you need,
Best wishes to you.
Dear Lori, I can understand you being overwhelmed by your situation. Having Crohns Diseases, you must take the drug Humira, which, as you say, can cause neurological symptoms. Then you have a dad that had SCA2 and wonder if there's a genetic cause to your symptoms, as opposed to being caused by Humira. The neuro you went to said he thinks you have genetic SCA2. passed on from you dad. As Beryl already said, an MRI would not show a genetic link/type of ataxia. I have Sporadic Cerebellar Ataxia (unknown cause), diagnosed eleven years ago. My symptoms, gait/balance, dexterity, speech and swallowing are 24/7. I and my neuro have no idea why I have this, as no one in my family, as far back as we know, has/had ataxia except me. I've had genetic testing for the known recessive types of ataxia, which was negative. I may have genetic testing for the known dominant types of ataxia, although my neuro said the % it would show positive is extremely low. I called Athena Diagnostics and dominent testing costs $10,000, although my responsibliity would only be $1000 (guess the rest is absorbed by Athena, as it's NOT covered by insurance). I live in Michigan and I see you live in Tennessee, so I assume Athena would do your testing also (?). Call them if your wondering about having testing (you can find their phone # on the net). The only reason I'd have testing is to ease my curious mind. I've been on an antidepressant for 20 years and, like you with your Humira, have wondered about that causing my ataxia. But, my antidepressant balances chemicals in my brain, so it's a double edge sword. My neuro thinks not, but it's crossed my mind several times. I really like my neuro, he specializes in ataxia and is also a researcher. He works at the University of Michigan Hospital, which is well-
renowned. Bottom-line, if I were you I'd think about having genetic testing if it would ease your mind, due to a family member having ataxia. I'd definitely check first on cost, so you don't have any surprises! I don't take any prescription drugs for my ataxia, just CoQ10, vitamins and supplements. So sorry to go on and on, just trying to be helpful! My best to you..., ;o)
My aunt was genetically tested and she showed sca2. I would want to be tested just in case Humira was the cause. If it was then I’d come off. I’m not really bad off right now, but I’ve already considered working from home and making my house handicap accessible. question to everyone, what do you do for work, and what if any government/disability assistance do you get? Or where should I go to find more info?
Rose, what does your doctor do for your condition? Does it help?
Is there any research about ataxia being a form of autoimmune? My dad, his sister, and I have an autoimmune and ataxia.
Steve said:
Crohn’s disease is a autoimmune disease it can be managed by proper diet that is why I mentioned a MD doctor who specializes in nutrition.
Lori,
The article by PubMed says some ataxia's are caused by autoimmune disease. http://www.ncbi.nlm.nih.gov/pubmed/18546342
Iwentdownunder said:
Is there any research about ataxia being a form of autoimmune? My dad, his sister, and I have an autoimmune and ataxia.
Steve said:Crohn's disease is a autoimmune disease it can be managed by proper diet that is why I mentioned a MD doctor who specializes in nutrition.
I would say Yes Steve. My doctor gave me steroids to see if my ataxia was autoimmune since I have an autoimmune thyroid condition. The immune system can also attack the cerebellum.
Dear Lori, So sorry, thought it was your dad that had/has SCA2, whereas it's your aunt, on your dad's side. There is no cure for my ataxia and it's progressive. I was diagnosed through the process of elimination, MRI (which showed atrophy of my cerebellum). When initially diagnosed, a team of neurologists also ruled out a brain tumor, stroke, MS, Parkinson's Disease and Myothenia Gravis, as well as other neurological ailments. I also had a nerve/muscle test, blood work and visual tests. I see my neurologist every six months to have my ataxia monitered. I've also had an MRI every five years, as he keeps an eye on the progression. Also. my type of ataxia can turn into MSA-C (Multiple System Atrophy-Cerebellum) or MSC-P (Multiple System Atrophy-Parkinsonism), although that usually happens within three years of diagnosis. It makes me feel better to have a neurologist watching out for me. If a new successful treatment comes up, I want to be in the loop. He tells me to be as active as possible, safely, of course! He says if you don't use it you lose it...,great advice! He has also written prescriptions for me for physical and aquatic therapy, as well as a rollator. If you have any other questions, please don't hesitate to ask! ;o)
Lori,
I might know why you your sister and dad have autoimmune disease and ataxia. Have you your sister and your dad ever been tested for magnesium deficiency? Magnesium is a helper enzyme for a lot of vitamins if you have magnesium deficiency many vitamins such as B1, B12, D3 etc. donot function correctly in the body. RDA recommends 320 mg for females
and 420 mg for men. If your diet donot have these amounts you can become deficient. If you are deficient in vitamins B1 or B12 this can cause ataxia by damaging the cerebellum. There is a test for magnesium deficiency it is called RBC magnesium RBC stands for red blood cell. There is another test it is more expensive it tests over 33 vitamins minerals
antioxidants amino acids it is called Spectracell Micronutrient test it cost around $400. Please post your results if you decide to take the tests. Here is a PubMed article on vitamin B1 (thiamine deficiency and magnesium depletion.
http://www.ncbi.nlm.nih.gov/pubmed/4050546 Here is a PubMed article why you might have ataxia.
http://www.ncbi.nlm.nih.gov/pubmed/16527765
Iwentdownunder said:
Is there any research about ataxia being a form of autoimmune? My dad, his sister, and I have an autoimmune and ataxia.
Steve said:Crohn's disease is a autoimmune disease it can be managed by proper diet that is why I mentioned a MD doctor who specializes in nutrition.
I used dr Hadi manji in the uk to do the genetic test which showed sca 2. It was covered by bupa. My kids will have the test when 18 in 2 yrs. I have learnt that rehabilitation or Physio is the best medicin available, it has really helped me
I think I confused people here. SCA2 runs on my dad’s side of the family. He had undiagnosed sca2 and died with autoimmune hepatitis. His sister, my aunt, has diagnosed/genetically tested SCA2, and she has a different autoimmune illness with her lungs. My dad’s mom has undiagnosed sca2, I’m not sure if she has autoimmune. Many people on my dad’s side of the family, like his cousin has sca2; I’m not sure whether they have been diagnosed. My brother has been gene tested and does not have it. I get a blood test every month from Crohns, my D3 levels are good as well as B12. I’ll see if the can check Magnesium levels and post them.
Is physiotherapy different then physical therapy?
rose said:
Dear Lori, So sorry, thought it was your dad that had/has SCA2, whereas it’s your aunt, on your dad’s side. There is no cure for my ataxia and it’s progressive. I was diagnosed through the process of elimination, MRI (which showed atrophy of my cerebellum). When initially diagnosed, a team of neurologists also ruled out a brain tumor, stroke, MS, Parkinson’s Disease and Myothenia Gravis, as well as other neurological ailments. I also had a nerve/muscle test, blood work and visual tests. I see my neurologist every six months to have my ataxia monitered. I’ve also had an MRI every five years, as he keeps an eye on the progression. Also. my type of ataxia can turn into MSA-C (Multiple System Atrophy-Cerebellum) or MSC-P (Multiple System Atrophy-Parkinsonism), although that usually happens within three years of diagnosis. It makes me feel better to have a neurologist watching out for me. If a new successful treatment comes up, I want to be in the loop. He tells me to be as active as possible, safely, of course! He says if you don’t use it you lose it…,great advice! He has also written prescriptions for me for physical and aquatic therapy, as well as a rollator. If you have any other questions, please don’t hesitate to ask! ;o)