Thursday, June 30, 2016

Accessible Air Travel; Let members of Congress know it's important

Back in May I posted an article on Accessible Air Travel and what is being done to improve our travel experiences.

The MDA Advocacy Group has posted the following message asking for everyone's support to help push this through..

Take Action for Accessible Air Travel

Thank you to everyone who has joined us in advocating for increased access to air travel.  Many of you contacted your Senators previously, encouraging them to include provisions to increase air travel accessibility in the FAA reauthorization.  All four of those provisions were included in the final version that passed the Senate by an overwhelming vote of 95-3, thanks in part to the actions of many advocates.  

As you will recall, the accessible travel provisions in the Senate bill call for:
1) studying the use of in-cabin wheelchair restraint systems, 
2) identifying best practices in airport accessibility, 
3) examining training policies regarding assistance for disabled air travelers and 
4) creating an advisory committee with diverse stakeholders to investigate and report to Congress on the needs of passengers with disabilities. 

The same provisions that would increase access to air travel for passengers with disabilities, however, are not included in the current version of the FAA reauthorization in the House of Representatives.  The House and Senate are now considering how to move forward and an extension may be the first step.

Please TAKE ACTION TODAY to let your members of Congress know that accessible travel provisions are important to passengers with disabilities, and that as they work out an agreement, we urge them to include the provisions in any final FAA reauthorization or in any action that would extend the FAA’s current operating authority.

If you would like to help by contacting your representatives, please follow this link:  TAKE ACTION NOW

Why is my CPK so high - Revisited

Over the years, the post with the greatest activity has been “Why is my CPK so high?” Readers have posted more comments and asked more questions on this subject than any other post. For this reason, I thought it might be appropriate to review creatine kinase (CPK) and provide links to other posts on the topic.

The Johns Hopkins Arthritis Center provides a good explanation of creatinine kinase (CPK).

CPK also called creatine kinase (CK) is an enzyme (chemical) found specifically in muscle cells. One form of CPK is found in heart muscle cells, another in the skeletal muscle cells. CPK is also found in brain cells. When these cells are damaged for any reason, the CPK is released into the blood and can be measured by a blood test. If the heart CPK (CPK-MB) is elevated it can mean that the heart is damaged which can occur in a heart attack or in conditions in which the heart muscle is inflamed such as viral myocarditis. Skeletal muscle can be damaged in trauma such as in severe injury to the muscles, or after intense exercise causing an increase in the skeletal muscle form of CPK (CPK-MM). Certain drugs such as cholesterol lowering drugs (statins) can damage muscle and elevate CPK. Other causes are alcohol, viruses, hereditary conditions. Finally CPK can be elevated in certain autoimmune diseases that cause inflammation in the muscle such as polymyositis or dermatomyositis.

In the post on “Why is my CPK so high,” Terry Blytheway does a good job of explaining CPK.

“Going back to basics, there are three types of creatine kinase or isoenzymes in the body: CK-BB is mainly produced by the brain and the smooth muscle; CK-MB is primarily produced by the heart muscle; and most of CK-MM is produced by the skeletal muscle.”

He goes on to explain what higher than normal CPK might indicate.

“…if the test reveals that the level of creatine kinase circulating in the blood is higher than it should be in normal conditions, then chances are that the human body in question has suffered damage either to the muscle or the brain. In fact, astronomical levels of creatine kinase are indicative of injuries, rhabdodomyolysis, myocardial infarction, myocarditis, myositis, malignant hypethermia, McLeod syndrome, neuroleptic malignant syndrome, and hypothyroidism. If most of this sounds like gibberish to you, just remember that a heart attack, a muscle disease or a stroke may result in abnormally raised creatine kinase levels in the blood. Statin medications used to decrease serum cholesterol levels may also be the culprit.”

If you are interested, below are links to other posts on CPK.

Saturday, June 25, 2016

Social Security - Disability (SS-D)

     Back in 2009, I documented my success in applying for Social Security – Disability (SS-D). Since then I received numerous emails from users of this process thanking me for the posts and the SS-D Guide. Today I received another thank you from a gentleman in Texas who used the process. I want to share his success as well as provide links to the articles and guide for those considering SS-D.

“Bruce, Thank you for your 20 page SS-D publication.  I've used quite a few tips from there.         
I was diagnosed with KD in September 2009 at age of 52.  I decided to apply for SSDI in May. I submitted my application (a lot of forms and whatever medical records I had) to my county SSA Office in person on 05/26/16 and was given another 8-page form (SSA-3373-BK, Function Report - Adult) which I completed and mailed. So by 06/03/16 they had all the information.

I received a letter from SSA dated 06/17/16 that I'm entitled to monthly disability benefits beginning November 2016 (required waiting period). That's acceptance in only three weeks from my initial application and two weeks from the time they had the other form”

     Below are three links (the PDF SS-D Guide and the two blog posts) for those considering applying for Social Security – Disability. Please keep me informed of the results of your application process.

Monday, June 20, 2016

Medical Bills Can Get Ugly

A friend with Kennedy’s Disease experienced multiple strokes and was hospitalized for over a year. I can’t pretend to imagine everything he went through mentally, physically and emotionally. And, the medical bills just kept on mounting up. My wife’s mother was hospitalized recently and had several tests performed to determine the health issues facing her. The medical bills were astronomical. 

This month’s Costco Connection magazine had an interesting article on medical insurance. After reading it, several points were discussed that I often overlook. Because of that, I thought I would share a portion of the article by by David and Amanda Horowitz.

Medical-bill basics
Don’t let charges take you by surprise

… Here are some things you need to know to avoid surprise bills. 

Understand the terms of your policy.
  • In-network provider: A doctor, hospital or health-care facility that has an agreement or contract with your insurance company and provides services to plan members for negotiated rates.
  •  Out-of-network provider: A provider who is not affiliated with your insurance company. In many cases, an insurance company will pay less or not pay anything for services received from an out-of-net work provider.
  • Deductible: The amount of money you have to pay out of pocket each calendar year before your insurance will start paying.
  • Co-pay or co-payment: A flat fee you pay to a health-service provider.
  • Co-insurance: The percentage of charges you pay to the medical provider after your deductible has been met and your insurance has started paying claims.
Before you have a procedure.
  • Ask your surgeon for a complete list of doctors and facilities that will be used.
  • Call your insurance company to discuss your plan and determine if those doctors and facilities are in-network.
  • If it is not possible to do your procedure completely in-network, contact the out-of-network providers and clarify the balance you will be responsible for…
  •  If you get an unexpected bill, talk to your insurance company and the provider. Some providers may accept the insurance payment as payment in full, or the insurer and the out-of-network provider may negotiate a fee and decrease the balance you owe. 
    •  If you have a plan that you bought through a state or federal marketplace, contact your state health insurance department. Some states have rules limiting how much you have to pay for out-of-network care.
Prescription sticker shock.
  • Anytime a doctor writes you a prescription, find out the medication costs, if it is covered by your insurance and if there is a low-cost generic alternative.
  • Ask your doctor if you can take a generic or a similar drug covered by your plan. If not, ask for an exception from your insurer.
  • Check out the prices at pharmacies in your area or ask for a coupon from the medicine’s manufacturer.
  •  If you have a chronic condition that requires medication, before you sign up with an insurance plan check if any of the drugs you take are covered.
  • You will get the lowest out-of-pocket costs when you buy the coverage plan’s “preferred” generic, or Tier 1, drugs…
Emergency treatment. 
  • Your emergency room treatment may not be treated as in-network, even if the ER is at an in-network hospital.  
  •  Call your insurer to discuss your plan and find out which in-network hospitals in your area employ in-network emergency room providers.
  •  If you get a surprise bill from an emergency room visit, contact your insurer and the provider and explain that since it was an emergency you did not have a choice of providers. The provider may accept the insurance payment or negotiate a reasonable fee with your insurance company.
  • “Balance billing” occurs when an out-of-network provider bills a patient for the difference between the amount they charge and the amount insurance pays. Find out if your state’s insurance department has a law that prevents emergency room balance billing. If it has, you may file a complaint…
  •  If you spot discrepancies in the bills, address them right away. You can find contact information for your state on the National Association of Insurance Commissioners website,
  •  For non-life-threatening situations, going to urgent care may be an option. Ask your insurance provider for information about co-pays and potential out-of-pocket costs at a
    clinic before you visit.
  • If your health insurance refuses to pay a claim, you can appeal the decision. Medical billing advocates may be able to help you navigate a difficult billing situation. …Organizations like the National Association of Healthcare Advocacy Consultants ( or Alliance of Claims Assistance Professionals ( Be aware, however, fees for medical billing advocates vary. 
Image-CBS News

Saturday, June 11, 2016

Discovery of molecular protection linked to Kennedy’s disease

Yesterday, Drug Target Review published a report on a Kennedy's Disease research project taking place at the Molecular Biophysics Lab in Barcelona, Spain.

Below is a section of the report. You can read the entire report by following this link: Discovery of Molecular Protection Linked to Kennedy's Disease .

Leucine residues

Thanks to access to one of the main Nuclear Magnetic Resonance facilities in Europe, located at the University of Florence, for the first time the scientists have studied the protein in a test tube. They have observed that right next to the glutamine chain there is a region comprised by four leucine residues that allay the effects of the mutation.

The leucine molecules favour the folding of the polyglutamine chain into a helix, a structure that prevents the chains from adhering to one another. However, the impact of the leucine molecule on the glutamine region is limited, and if there are many glutamine amino acids, the chains do not fold. Instead, they stretch out like rods, stick to each other, and end up forming a fibrous wall.

“We have seen that four leucine molecules delay this process. What would happen in the presence of six?” asks Salvatella. “Conceptually speaking, one clever way of delaying the aggregation could be to use drugs to strengthen the effect of the leucine residues that have so much influence on the mutation site that causes the protein to aggregate.”

Wikipedia explains Leucine and its effects. I found this interesting.


Leucine is an mTOR activator. It is a dietary amino acid with the capacity to directly stimulate muscle protein synthesis. As a dietary supplement, leucine has been found to slow the degradation of muscle tissue by increasing the synthesis of muscle proteins in aged rats. However, results of comparative studies are conflicted. Long-term leucine supplementation does not increase muscle mass or strength in healthy elderly men. More studies are needed, preferably ones based on an objective, random sample of society. Factors such as lifestyle choices, age, gender, diet, exercise, etc. must be factored into the analyses to isolate the effects of supplemental leucine as a standalone, or if taken with other branched chain amino acids (BCAAs). Until then, dietary supplemental leucine cannot be associated as the prime reason for muscular growth or optimal maintenance for the entire population.

Wednesday, June 8, 2016

The BVS857 Trial is Completed

Most of us living with Kennedy's Disease are anxiously awaiting news of the BVS857 trial. If you can't remember what the trial is, follow this link:  Safety, Tolerability, and Efficacy of BVS857 in Patients With Spinal and Bulbar Muscular Atrophy

I also wrote about it in earlier blogs:
 Yesterday I reached out to Dr. Fischbeck at NIH. He was kind enough to respond to my inquiry. I realize it isn't anything definitive, but it means the results will be published soon.  FINGERS CROSSED
Thanks for the message, Bruce. The active phase of the BVS857 trial has ended, and the results are being analyzed. We currently plan to present the findings at the KDA meeting in the fall, and will likely be able to get some word out earlier, hopefully in the next month or two.

It’s OK to let the others know.


Tuesday, June 7, 2016

It's Time For The Final Push

I have written about this proposed bill several times over the past year. We were able to help push it through the House and now it is in the Senate's hands. I urge you to take 3-5 minutes to show your support for this CuresNOW bill.  Thank you.

We Need #CuresNow for  Rare Diseases!
Today, June 7, join rare disease advocates around the country and tell your Senators to support the Senate Cures Legislation. This month is the last chance for Senate Cures to pass before the Senate is out of session until after the November election.

Senate Cures (also called the Senate Innovation Act for Healthier Americans) is the companion legislation to the 21st Century Cures Act, which passed in the House last year.

This vital package includes billions of dollars to help the rare disease community, including new funding for critical research at the NIH and to accelerate drug approval at the FDA, and several other provisions.  

NORD is proud to work with other advocates across the country to unite and make sure the Senate gets our message loud and clear! 
Take Action
Time is running out and we need your help to move the Senate Cures Legislation! Join advocates from across the country and call the Senate TODAY!
  • Join the Thunderclap campaign (sign up before 3:30pm EDT) and use social media to add your voice
  • Call your members of Congress to show your support for the Senate Cures Legislation
  • Email your members of Congress and urge them to support this piece of legislation
Background: What is 21st Century Cures?
NORD worked with its Member Organizations and other patient advocates to help ensure the 21st Century Cures Act was passed in the House last year. As background information, here is some of the work that we accomplished together:
  • Sent a letter to the House Energy & Commerce Commitee from NORD and Member Organizations
  • Comments to the House Energy & Commerce Committee
  • Urged Advocates to call Congresspeople to tell them to support 21st Century Cures Act

Alone we are rare. Together we are strong®.

MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Kennedy's Disease

Below is a link to research on Kennedy's Disease that was published in January in Molecular Therapy.

MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy

 Naemeh Pourshafie, Philip R Lee, Ke-lian Chen, George G Harmison, Laura C Bott, Masahisa Katsuno, Gen Sobue, Barrington G Burnett, Kenneth H Fischbec1 and Carlo Rinaldi


Spinal and bulbar muscular atrophy (SBMA) is a currently untreatable adult-onset neuromuscular disease caused by expansion of a polyglutamine repeat in the androgen receptor (AR). In SBMA, as in other polyglutamine diseases, a toxic gain of function in the mutant protein is an important factor in the disease mechanism; therefore, reducing the mutant protein holds promise as an effective treatment strategy. In this work, we evaluated a microRNA (miRNA) to reduce AR expression. From a list of predicted miRNAs that target human AR, we selected microRNA-298 (miR-298) for its ability to downregulate AR mRNA and protein levels when transfected in cells overexpressing wild-type and mutant AR and in SBMA patient-derived fibroblasts. We showed that miR-298 directly binds to the 3’-untranslated region of the human AR transcript, and counteracts AR toxicity in vitro. Intravenous delivery of miR-298 with adeno-associated virus serotype 9 vector resulted in efficient transduction of muscle and spinal cord and amelioration of the disease phenotype in SBMA mice. Our findings support the development of miRNAs as a therapeutic strategy for SBMA and other neurodegenerative disorders caused by toxic proteins.

 Follow the above link for the entire article.

Thursday, June 2, 2016

Non-neural phenotype of spinal and bulbar muscular atrophy

Below is an abstract of a research paper published last year. This study was focused on non-neurological characteristics in 73 patients with Kennedy’s Disease. 

“Non-neurological clinical features have not been extensively investigated in previous reports. The aim of the present study was a deep characterisation of the involvement of the main androgen-responsive tissues in a large collection of patients with SBMA. The findings highlight novel non-neural dysfunctions and a wide phenotypic spectrum, suggesting the need for a comprehensive, multidisciplinary approach to SBMA.


Objective To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA).

Methods 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal analyses, genitourinary examination, bone metabolism and densitometry, cardiological evaluation and muscle pathology.

Results Creatine kinase levels were slightly to markedly elevated in almost all cases (68 of the 73; 94%). 30 (41%) patients had fasting glucose above the reference limit, and many patients had total cholesterol (40; 54.7%), low-density lipoproteins cholesterol (29; 39.7%) and triglyceride (35; 48%) levels above the recommended values. Although testosterone, luteinising hormone and follicle-stimulating hormone values were generally normal, in one-third of cases we calculated an increased Androgen Sensitivity Index reflecting the presence of androgen resistance in these patients. According to the International Prostate Symptom Score (IPSS), 7/70 (10%) patients reported severe lower urinal tract symptoms (IPSS score >19), and 21/73 (30%) patients were moderately symptomatic (IPSS score from 8 to 19). In addition, 3 patients were carriers of an indwelling bladder catheter. Videourodynamic evaluation indicated that 4 of the 7 patients reporting severe urinary symptoms had an overt prostate-unrelated bladder outlet obstruction. Dual-energy X-ray absorptiometry scan data were consistent with low bone mass in 25/61 (41%) patients. Low bone mass was more frequent at the femoral than at the lumbar level. Skeletal muscle biopsy was carried out in 20 patients and myogenic changes in addition to the neurogenic atrophy were mostly observed.

Conclusions Our study provides evidence of a wide non-neural clinical phenotype in SBMA, suggesting the need for comprehensive multidisciplinary protocols for these patients.”