The Need for a Medical Database

This is an update on a potential opportunity for the KDA and its associates.

I had a discussion yesterday with a neurologist that has been very supportive of the KDA over the years. We were talking about the article on the "Natural History of Spinal Bulbar Muscular Atrophy" study when he brought up a possible opportunity for the KDA. He mentioned that besides the KDA's 'social database' that has all the names, addresses, etc. of the KDA associates, no one has a 'medical database' of Kennedy's Disease patients and carriers that could be used by researchers to determine who would want to be involved in a clinical trial or to enhance upon the study mentioned above.

The medical database would need to have the 'social database' information plus the medical history of the associates possibly willing to participate in future trials including whether they had a DNA test and the results of the DNA test. The information would have to be collected by a clinical researcher that the KDA would have to subsidize. Of course the information would be confidential, secure and proprietary ... only used by doctors approved by the KDA's Scientific Review Board (SRB) and the Board of Directors.

The benefit of such a database is at lease two fold. One, it would allow researchers to develop a more comprehensive "Natural History of SBMA" using a wider audience (age, age of onset, symptoms, etc.) than the current one mentioned above. And, two, if a new drug is read to for a trial, the database would provide a comprehensive list of available patients possibly willing to participate in a trial and would already have most of the needed information to pre-qualify the patient.

I discussed this opportunity with the Board yesterday and the concept was well received. At the annual conference in November this opportunity will be a discussed with the SRB, BOD, and other researchers present, and hopefully approved.

As I posted before there is an on-line community that does a very good job of tracking ALS. They have added other disorders as well. When I wrote to them and asked about added SBMA they said someone int he SBMA community was working on it. Whoever that may be they seem to have dropped the ball. It would be great if the KDA board could discover the person "working on" adding SBMA and lean on them HARD. http://www.patientslikeme.com/

I too wrote Quest and complained about the poor research methodology. The reply from Dr Sorenson was basically "sorry about that, we know what we are doing." (I suspect the previous letter writer will post the reply.)

In a way I hope their conclusions are correct. I would be glad to have hope that my symptoms would not progress beyond the 75% disability level I'm now at now at age 60. My impression has been that 100% of us will reach 100% disability at some point. If I'm wrong that would be great news!

Update on Mayo Clinic Study on Kennedy's Disease

I just finished reading the actual article "Natural history of spinal-bulbar muscular atrophy" available through the Mayo Clinic Libraries. After reading the article, I believe it is a fair representation and that Quest Magazine did not do a good job of summarizing the report. This could have been a problem with the amount of space available to summarize the report or a reporter's determination of what was important.

A few clarifications or amplifications:

The twenty five were from Olmstead County, MN. The same county as the clinic. These were all patients that went to the clinic for diagnosis.

The mean age was 54 with a range from 36 to 77.

The range in years from first diagnosis was 3 to 26 with the mean being 13.

The ALS Functional Rating scores were between 27 and 43 with 37 being the mean. The highest score you could achieve was 48. (More on this later)

All 25 said they had problems with climbing stairs. 7 had some problems, 18 were able to climb with the help of handrails, and five couldn't climb stairs at all.

20 of the 25 reported some problems with walking. 13 required some type of aid (cane, walker, etc.) and 2 required a wheelchair.

All 25 reported some form of bulbar dysfunction. 20 reported minor difficulties with swallowing. 18 reported some difficulty in articulating words, caused by impairment of the muscles used in speech. 6 reported difficulties with speech intelligibility. 12 reported some difficulty with or labored breathing. 5 reported they had difficult or painful breathing except in an erect sitting or standing position.

12 reported a need for assistance with dressing and hygiene. 14 had some difficulty turning over in bed. 16 reported minor difficulty with hand functions.

The key messages that I took out of the full report were:

quote:

The ALSFRS-r provides a quick and easy way of assessing each subject's ability to complete their activities of daily living. While it is possible that this scale may not fully reflect the symptom burden of SBMA, given that the neuromuscular deficits associated with SBMA are identical with ALS, this instrument is the most appropriate choice for surveying the functional impairments associated with SBMA.

quote:

This suggests that in addition to a good long-term survival, patients with SBMA continue to be independent in most of their activities of daily life.

The report goes on to discuss its own limitations ... 8 surviving subjects were unavailable for followup, there could be some referral bias, and the ALSFRS-r might not be sensitive enough to fully assess the true functional status of these subjects. The doctors commented:

quote:

As a result, we may miss or minimize the true impact of this condition, and in particular the need for PEG tubes, NIPPV, or additional supportive needs later in the disease course.

In the closing, there was a good explanation of what the intent of this study meant:

quote:

In counseling newly diagnosed patients with SBMA, one can advise these patients that their long-term survival is nearly as good as the normal unaffected population. The long-term functional outcome, while impaired in all patients, remains modest in most, with a minority losing their ability to walk or perform activities of daily living independently until very late in the disease.

When reviewing the actual ALS Functional Rating Scale, each question has a scale of 0-to-4. I took the test and scored 37 out of 48. Now that is the mean (average) for the 25 subjects. I use a wheelchair most of the time, I have some problems with choking, I can still dress myself and turn over in bed, I can still cut up and eat my own food, I cannot safely climb stairs, etc.) Now, if the questions had been more specific, it could have been answered substantially different. Also, if their would have been questions for how cold impacts the muscles, weakness on one side more than the other, ability to get up from a fall, ... I think you get the idea.

Well, I feel better and feel that this was a fair assessment given the explanation and the scoring system used.

This message has been edited. Last edited by: Bruce,

Bruce, thank you for your post highlighting the complete study. I feel much better after reading your summary of the research. I did get a response from Margaret Wahl of Quest and from Dr. Sorenson. I am posting a copy of Dr. Sorenson's response.

Dear Mr. Herndon:

Here's Dr. Sorenson's response to the letters about the SBMA news report
in Quest. We'll publish it in the Nov-Dec Quest Mailbag, along with your
letter and another one, if space permits.

-----------------
Dear Ms. Wahl,

We acknowledge that the clinical experience in SBMA differs widely among
those affected. Some remain minimally affected while others suffer
substantial neurological deficits. As we pointed out in our article, we
are not intending to minimize the substantial effects this disorder has
on some. Our study does demonstrates that overall survival is nearly as
good as normal age-matched controls.

As we mentioned in our article, all our surviving patients had some
disability and the range of disability was wide. However, many of the
patients remained ambulatory and living independently with this
diagnosis.

There is no question that patients with SBMA suffer limitations that can
be significant particularly later in the disease. Our objective was not
to discredit this fact, but rather we wanted to focus on the positive
aspects of this neurodegenerative disorder, particularly in comparison
to similar disorders such as ALS (which this condition is frequently
mistaken for).

I apologize if our paper has been distressing to some of those affected
by SBMA.

Sincerely,

Eric J. Sorenson, M.D.
Department of Neurology
Mayo Clinic
Rochester, MN 55905

Thanks Bruce and Indiana Jim for clarifying this issue. I can see now that I misread the conclusions of the researchers, initially. I do think that Quest's summary of the study contributed to the confusion. Thanks again, both of you

September 06, 2008 Chat with Maria Pennuto

I would encourage everyone to read through the chat room transcripts for last Saturday when they are posted. Maria Pennuto is a researcher at the University of Pennsylvania that was awarded one of our research grants last year. In her chat Saturday she brought us up to date on her research and it is encouraging ... and also discouraging.

The encouraging part is her findings on what happens when they mix the genes of a super mouse (with over-expressed IGF-1) with the genes of a mouse with Kennedy's Disease. If this is successful, it could be a tremendous benefit to future generations that have the defect.

Another encouragement is that three labs are working on this potential opportunity (UPenn, NIH, and St Jude).

Another encouragement is her commitment to find a treatment or cure. We, all of us with KD, are blessed to have such dedicated people trying to discover a treatment/cure.

The discouraging aspect is that everything takes so long. Ten or fifteen years ago waiting a few years didn't sound too bad. Today, in my 60's, a few years of further testing before a potential clinical trial sounds like an eternity.

Her comments about the future makes the KDA's theme this year:

"Working together to find a cure for our generation, ... and for our children and our grandchildren"

mean so much more to me.

To Brace, or not to brace; that is the question

An associate wrote and asked for help with his declining neck strength:

"I am having issues with my neck muscles weakening. I have talked to two chiropractors and my family doctor about the benefit of getting a neck brace. Their suggestion is to hold off as long as I can to try to force the muscles to stay stronger. Their reasoning is that if I get the brace that the muscles will get used to the support and indeed become weaker. Is there some advice someone can give me on this subject? What kind of neck brace might the KDA suggest?"

Since I am only aware of a few KD'rs that currently wear neck braces and am not very knowledgeable on the subject, I agreed with his doctors and said I, personally, would put off the use of a neck brace until it was absolutely necessary.

It seems like when we compensate for a weakness with a brace, we no longer use the muscles and they waste away even quicker. I do know that neck exercises do help in keeping the neck muscles strong and I practice them every other day.

Does anyone have any suggestions/recommendations on this subject based upon personal experience? Any thoughts would be appreciated. Thanks

My thoughts.
If you are feeling neck weakness, use one for safety. I have used a Headmaster brace for over a year now. I don't wear it all the time, mostly when transfering and riding in a vehicle or my wheelchair. I do this as a protective measure to prevent possible injury from sudden movements, stops, starts and bumps. My neck muscle strength isn't consistent enough to risk not using the brace. Here is a link to the brace my OT recommened from the ALS clinic I attend. It is so versatile, you can adjust it for comfort in a second and still allow latteral movement if you wish. We all know how quickly our comfort levels can change. You don't have to go around with your nose stuck up in the air, like most braces. Symmetric Designs
There is some good info on bottom half of the page on Neck muscle weakness also.

Don't put off using one for too long and risk injury!

Darwyn

This message has been edited. Last edited by: Darwyn,

I posted a similar request late last year when I started noticing that I could not keep my head up due to neck weakness.

Darwyn was nice enough to reply and suggest the Headmaster brace as a solution. I'll have to say that it resolved most of my problems (in an indirect way). As soon as I got it and before even wearing it, my neck started to improve... I have worn the device twice and have decided that at this point and time, my neck has improved where the weakness is only present when I get very tired.
I may wear it again this Halloween to see if I can scare some of the neighborhood kids... (Just kidding...it actually is not that bad).

I'm wondering why there are so many innovative devices like these coming out of Canada and not out of the US? Have the lawyers made the US non-competitive? Maybe it is time for serious tort reform?

You learn a lot over thirty years

Thirty years ago when I was somewhat of a ‘jock’ and was an up-and-coming executive; I thought I had the world in my hands and nothing could stop me. I made things happen. There was no lack of confidence and I felt I could do/accomplish almost anything. It was a wonderful life and all I could see down the road was an even better one.

Thirty years later I am a more humble person. I have learned much over the years and continue to learn more about myself and about people, in general, every day. Where I was once a ‘mover and a shaker’, I am now blessed and thankful for the world that I live in. Almost every day I rediscover the beauty of life through the help and support of many people … often strangers that I might never meet again.

Yes, my lovely wife is one of those people. When we first met and as our love grew, she never knew she would someday be living with a man with Kennedy's Disease. She has learned to live with me living with the disease and that is no easy matter. She has had to live with me through many tough times as Kennedy's Disease whittled away at my pride and ego. She has learned to become an excellent caregiver even when I fought against the notion that I needed one. For some reason she puts up with all my crap and continues to support me as I learn to live with the disease.

What can I say about family and friends that isn’t mentioned in the above thoughts about my wife? They are flexible in their plans and continually find ways to involve me in activities that I would just not do if it weren’t for them. They are there for me every day if I need them.

And, whether they are my grandchildren or just children in general, these blessings from God see the man (or grandpa) and not the handicap. They don’t judge me on what I can or can’t do physically, they just want to laugh, learn, and be respected and loved. Children provide me with great joy and love because life is simple (uncomplicated) to them. They are the truest blessing in life because they expect nothing and give so much. With just a smile, they can warm my heart and make me feel young again.

Now, speaking of those strangers that I will never meet again, they are also the little blessings in life. Several times through the years someone stopped to pick me up when I fell down. It wasn’t a problem for them, but it made all the difference in the world to me. Whether at a gas station in the middle of western Virginia at midnight, in an airport jet-way in Philadelphia during the rush hour, or outside a restaurant in Seattle at lunch; when I go down it is almost impossible to get up without some help. Fortunately, these people came to my aid, brushed me off, made sure I was okay, and then walked on never to be seen again.

Over thirty years I have learned a lot about life. Probably one of the most important lessons is that people are generally good and want to help. Also, children are our future and they don’t know or care about the word ‘handicapped’. And, the love of family and friends knows no bounds if you are receptive and thankful for their support.

What more could anyone want in life?

Hi, This is Jim from California. My most serious problem has been an inability to swallow. Along with that was nasal speech and other speech impairments. I also have weak neck muscles and find it hard to hold up my head when I'm tired. One neurologist wanted me to take the test for KD, but sent me to another neurologist for a second opinion. The second opinion was myasthenia gravis. The first doctor then changed his opinion and told me "forget Kennedy's. You have ALS."

I went back to Dr.#2, who now agreed that I had ALS. He said that, although the diagnosis and prognosis are different for Kennedy's and ASL there is no difference in the treatment that the doctor prescribes. I guess he meant that since there is no cure for either, doctors focus on helping patients with the symptoms. He said that he really wants for me to take the KD test because it would help him to learn more about these two diseases, but it wouldn't affect his treatment. I hesitate to take it, because medicare won't pay for it.

Jim, I have a couple of comments.

First, Medicare will pay for the DNA blood test if prescribed by your neurologist or doctor. You can verify that by contacting Medicare directly. The key is that the doctor has to prescribe the blood test to determine/rule out/rule in ALS or KD.

Second, there are some excellent exercises for the neck muscles and to improve swallowing. Follows this link: KDA Exercise Page and look at the Smart Exercise Guide and the Throat and Mouth exercises. I use them every day and they seem to work very well for me.

Good Luck!

quote:

Originally posted by Jim Michael:
.... He said that he really wants for me to take the KD test because it would help him to learn more about these two diseases, but it wouldn't affect his treatment. I hesitate to take it, because medicare won't pay for it.

Hi Jim,

I can't imagine how stressful all this has been for you and your family. While the treatment may be the same for KD and ALS, the outcomes are not. If Medicare does cover the cost of the DNA test, I don't understand why your medical providers haven't ordered it already. This seems very cruel and unfair to me! I hope this will be resolved for you very soon and I wish you all the best, Jim.

quote:

Originally posted by Bruce:
Jim, I have a couple of comments.

First, Medicare will pay for the DNA blood test if prescribed by your neurologist or doctor. You can verify that by contacting Medicare directly. The key is that the doctor has to prescribe the blood test to determine/rule out/rule in ALS or KD.

Second, there are some excellent exercises for the neck muscles and to improve swallowing. Follows this link: KDA Exercise Page and look at the Smart Exercise Guide and the Throat and Mouth exercises. I use them every day and they seem to work very well for me. Good Luck!

Thanks for the exercises. I'm starting to practice them.
I'll tell the neurologists about the "key" to testing.