[tomoko-zemman]

I applied for phase 3 trial at Emory university and Mayo Jacksonville, but could not get in either of them after phone interviews.  Neither of them were looking for people with slower progression type.   Applying is very easy and efficient.  Initially you apply online, then you will receive a confirmation by email.  Within a few days, a clinical trial coordinator will call you for details.  It is a double blind test and 1/3 of participants receive placebo.

[tomoko-zemman]

I have been traveling with my manual chair by air, train, ships and cars without too many problems.  I even traveled alone from Texas to Canada a day after I received my chair!
I went to one of John Morris’ travel seminars at an abilities expo right before I got my chair.  He uses a very heavy electric chair and he travels all over the world by himself.  He has a helpful website.
Your husband should be able to bring his own chair.  It probably is a good idea to contact the airlines just to ensure they have enough cargo space in the particular flights.  I always make sure that I have enough transit time as I am always the last one to deplane.

[tomoko-zemman]

I usually get a wheelchair accessible hotel room, but started bringing my own portable shower stool which collapses to a six-inch-diameter x two-inch-high disc in case they are not equipped with a shower bench. The grab bar sounds like a great addition. I will check in to it.

[tomoko-zemman]

Hello Mikael,
I live in Austin Texas.
When my genetic test for SOD1 came out positive, I felt like I hit a jackpot as I had been craving for an answer; however, I was told that some patterns of mutations in this gene can be benign by a specialist. I went back for more testing.
I came across several reports which helped me understanding my physical conditions. I found two independent studies mentioning prognosis in ALS due to mutated SOD1 tends to have differences according to genders. My maternal grandfather also had neurological condition but he did not have the same conditions mother had. His symptoms did not appear until he was about 60, but his health declined fast, while my mother noticed something was wrong with her when she was only 38 and lived to 65 of age without feeding tube or a breathing aid. Second research I found was about creatine kinase. My creatine kinase level has been very very high to the extent I wonder why doctors did not suspect muscular dystrophy. Anyways, this research report mentioned that elevated creatine kinase may be slowing the progression of ALS. Then I found a comment about various types of SOD1 mutations. My mutation seems to be atypical and not confirmed to cause ALS; however, the mutation is in coding region and it done not produce normal protein. I think all these reports (if I trust them) explain that my conditions are atypical but ALS. I also have supporting test results, such as EMG and hyperreflexia.
I have been a full time wheelchair user since spring of 2018, but I still workout, travel and attend events with help of family and friends.
If you are interested in knowing about the precision medicine program, you can read about it online. The site is found at ALS.net > ALS Research > Precision medicine program. The program not only helps the researchers with gathering data, it is also designed for the patients to keep track of own conditions.
Tomoko

[tomoko-zemman]

Hello Mikael,
Mine started with atrophy in both legs at least ten years ago. At that time I did not have other symptoms and I did not relate with NMD. Then I started having balance issues and hand tremor. When I realised I could not run 6 years ago, I kept ignoring the condition and blamed on ageing (although I was only in mid forties).
Here are the tests I went though.
* Blood work, 24- hour urine, spinal tap (possible infection detection)
* MRI on every spinal section and cerebellum
* EMG
* Some tests to rule out autoimmune conditions.
* Genetic test for familial ALS caused by SOD1 gene
* Genetic tests for every known spinocerebellar ataxia, some recessive ataxias and episodic ataxias.
After the genetic tests for ataxias for being all negative, I finally accepted the diagnosis of ALS.
I found the research by precision medicine though ALS news today. I just wanted to contribute to their data collection.
Tomoko

[tomoko-zemman]

Hello Mikael,
I understand your frustration as I went though a similar experience. My case looked easier as my mother also had the condition, but diagnosed with spinocerebellar ataxia due to lack of genetic testing at the time. My diagnosis went from hypocondriac to ALS to ataxia and back to ALS over four years. I even got a doctor review my MRI images to detect any chance of chiari malformation.
I feel it is important to know what the causes of the conditions. First of all the conditions may have established treatments. Secondly, it keeps my sanity if I have something to follow or apply for clinical researches. I am in the middle of registering with Precision Medicine research which they collect data from ALS patients (including suspected) to utilise/analyse them to develop treatments and cure in the future.
I hope the new year brings bright light to you!
Tomoko