When Should I Tell My Employer About My Condition?

One of the most difficult decisions I ever made was to advise my boss that I had Kennedy’s Disease. Pride, fear and the other unknowns kept me from disclosing my condition for far too long. Yet, after I told him, I discovered he was understanding and supportive of my condition and situation. Several accommodations were made that allowed me to work safely productively for several more years.

I don’t believe there is ever the “right time” to have the discussion because there are too many unknowns. But, when you begin to see possible job performance or safety issues involved, it is probably time to step up. As the article states, disclosing your condition is a matter of personal choice.

The MDA’s QuestMagazine has an article written by Karen Henry about disclosing your disability to your employer. A portion of the article is shown below. To read the entire article, click on the MDA Quest link above.

“…Talking with employers about neuromuscular disease can be challenging. Given the broad spectrum of neuromuscular diseases and their often unpredictable nature, some may find it difficult to navigate exactly when and how much to disclose. 

“The very first thing a person needs to consider is why you want to disclose,” says Sharon Rennert, senior attorney advisor at the U.S. Equal Employment Opportunity Commission (EEOC). Doing so for the right reason at the right time keeps the focus on your performance as an employee, rather than on your disability…”

“…Ultimately, disclosing information about your disability to your employer is a personal choice. Choosing not to disclose your disability might be the most appropriate choice if you are able to perform all your essential job functions without extra assistance. However, if your disability begins to impact your job performance, you could be held accountable for performance issues if you have not disclosed your disability and asked for reasonable accommodations.

“Even if you’re not quite sure what accommodations might help you, it is better to get the ball rolling,” Rennert says. “The last thing anybody wants is for there to be disciplinary action based on poor performance.”

Miller agrees. “It’s OK to let people around you know what you’re going through. It’s OK to take accommodations that are necessary for your disability…”

“…Title I of the Americans with Disabilities Act (ADA) of 1990 prohibits private employers, state and local governments, employment agencies and labor unions from discriminating against qualified employees with disabilities. They also must make reasonable accommodations employees with disabilities need to perform their jobs.

According to the U.S. Equal Employment Opportunity Commission (EEOC), a reasonable accommodation is any change in the workplace or the way things are customarily done that provides an equal employment opportunity to an individual with a disability. “The types of accommodations an employer could provide are quite broad,” says Sharon Rennert, senior attorney advisor at the EEOC…”

Caregivers are People Too

The role of caregiver is often a thankless and often never-ending job. Fear, frustration, guilt, exhaustion, and burnout are often associated with long-term caregivers. Besides providing care, the caregiver is always thinking of ways to help make life easier for those in their care.

Caregivers also have another responsibility that is often lost in their daily duties. They also need to take care of his or herself including finding some “alone time” to recharge the batteries.

Far too often, the caregiver’s needs are forgotten. With the advent of cell phones and alert bracelets, being on-duty 24-7 doesn’t have to mean giving up their personal lives. And, even though we might say “Thanks” and “Provide Encouragement”, it is not enough. We need to find ways to be a caregiver to our caregiver. It can mean something as simple as giving the caregiver some “guilt free” time away from their duties. Or, it can mean encouraging the caregiver to go to a spa or the gym for a few hours—or, maybe taking in a movie or dinner with friends. Hobbies are also a wonderful distraction. 

The following are some tips from an article from the Family Caregivers Alliance. To read the entire article, click on this link.

TakingCare of YOU: Self-Care for Family Caregivers.

Summing Up

Remember, it is not selfish to focus on your own needs and desires when you are a caregiver—itʼs an important part of the job. You are responsible for your own self-care.

Reducing Personal Stress

How we perceive and respond to an event is a significant factor in how we adjust and cope with it. The stress you feel is not only the result of your caregiving situation but also the result of your perception of it—whether you see the glass as half-full or half-empty. It is important to remember that you are not alone in your experiences.

Setting Goals

Setting goals or deciding what you would like to accomplish in the next three to six months is an important tool for taking care of yourself.

Seeking Solutions

Seeking solutions to difficult situations is, of course, one of the most important tools in caregiving. Once youʼve identified a problem, taking action to solve it can change the situation and also change your attitude to a more positive one, giving you more confidence in your abilities.

Communicating Constructively

Being able to communicate constructively is one of a caregiverʼs most important tools. When you communicate in ways that are clear, assertive, and constructive, you will be heard and get the help and support you need.

Asking for and Accepting Help

When people have asked if they can be of help to you, how often have you replied, “Thank you, but I'm fine.” Many caregivers donʼt know how to marshal the goodwill of others and are reluctant to ask for help. You may not wish to “burden” others or admit that you can't handle everything yourself.

Be prepared with a mental list of ways that others could help you. For example, someone could take the person you care for on a 15-minute walk a couple of times a week. Your neighbor could pick up a few things for you at the grocery store. A relative could fill out some insurance papers. When you break down the jobs into very simple tasks, it is easier for people to help. And they do want to help. It is up to you to tell them how.

Help can come from community resources, family, friends, and professionals. Ask them. Donʼt wait until you are overwhelmed and exhausted or your health fails. Reaching out for help when you need it is a sign of personal strength.

Talking to the Physician

In addition to taking on the household chores, shopping, transportation, and personal care, 37 percent of caregivers also administer medications, injections, and medical treatment to the person for whom they care. Some 77 percent of those caregivers report the need to ask for advice about the medications and medical treatments. The person they usually turn to is their physician.

But while caregivers will discuss their loved oneʼs care with the physician, caregivers seldom talk about their own health, which is equally important. Building a partnership with a physician that addresses the health needs of the care recipient and the caregiver is crucial. The responsibility of this partnership ideally is shared between you, the caregiver, the physician, and other healthcare staff. However, it will often fall to you to be assertive, using good communication skills, to ensure that everyoneʼs needs are met—including your own.

Starting to Exercise

You may be reluctant to start exercising, even though youʼve heard itʼs one of the healthiest things you can do. Perhaps you think that physical exercise might harm you, or that it is only for people who are young and able to do things like jogging. Fortunately, research suggests that you can maintain or at least partly restore endurance, balance, strength, and flexibility through everyday physical activities like walking and gardening. Even household chores can improve your health. The key is to increase your physical activity by exercising and using your own muscle power.

Exercise promotes better sleep, reduces tension and depression, and increases energy and alertness. If finding time for exercise is a problem, incorporate it into your daily activity. Perhaps the care recipient can walk or do stretching exercise with you. If necessary, do frequent short exercises instead of those that require large blocks of time. Find activities you enjoy.

Walking, one of the best and easiest exercises, is a great way to get started. Besides its physical benefits, walking helps to reduce psychological tension. Walking 20 minutes a day, three times a week, is very beneficial. If you canʼt get away for that long, try to walk for as long as you can on however many days you can. Work walking into your life. Walk around the mall, to the store, or a nearby park. Walk around the block with a friend.

Learning from Our Emotions

It is a strength to recognize when your emotions are controlling you (instead of you controlling your emotions). Our emotions are messages to which we need to listen. They exist for a reason. However negative or painful, our feelings are useful tools for understanding what is happening to us. Even feelings such as guilt, anger, and resentment contain important messages. Learn from them, then take appropriate action.

Visit the Best 25 Caregiver Ideas on Pinterest.

This is another article snipped from the NIH.gov blog. Since Huntington’s and Kennedy’s Disease  both have extra repetitions of the CAG DNA, this is another advancement in treating and possibly curing these type diseases. As I mentioned in my previous post, the process is still experimental, but it is moving in the right direction. If you haven't read the previous update on gene editing, you can find it here.

To read the entire article, click on the title below.

Huntington’sDisease: Gene Editing Shows Promise in Mouse Studies

Posted on June 27, 2017 by Dr. Francis Collins

“…But years of basic science advances, combined with the promise of innovative gene editing systems such as CRISPR/Cas9, are providing renewed hope that we will someday be able to treat or even cure Huntington’s disease, along with many other inherited disorders.

My own lab was part of a collaboration of seven groups that identified the Huntington’s disease gene back in 1993. Huntington’s disease occurs when a person inherits from one parent a mutant copy of the huntingtin (HTT) gene that contains extra repetitions, or a “stutter,” of three letters (CAG) in DNA’s four-letter code. This stutter leads to production of a misfolded protein that is toxic to the brain’s neurons, triggering a degenerative process that, over time, leads to mood swings, slurred speech, uncontrolled movements, and, eventually, death. In a new study involving a mouse model of Huntington’s disease, researchers were able to stop the production of the abnormal protein by using CRISPR tools to cut the stutter out of the mutant gene.

The progress, reported in the Journal of Clinical Investigation [1], comes from the NIH-supported team of Su Yang, Renbao Chang, Xiao-Jiang Li, and colleagues at Emory University School of Medicine, Atlanta. The group’s previous work showed that halting the production of mutated (or even healthy!) HTT protein in mature neurons doesn’t hurt the cells or cause obvious neurological problems in mice [2]. So, the researchers now wanted to see if halting HTT production in millions of neurons in the striatum, which is a part of the inner brain that controls motor skills, could reverse early signs of disease that typically appear in affected mice before the age of 9 months.

To get their answers, the researchers injected millions of inactivated viral particles directly into the striatum of a few 9-month-old mice, engineered to produce the mutant form of HTT protein. Each particle, like a Trojan horse, delivered to the neurons one of the two pieces of the CRISPR/Cas9 editing system: either a short guide RNA sequence to mark for removal the HTT gene’s CAG repeats or a scissor-like Cas9 enzyme to snip out the repeats. In this strategy, both the health and abnormal copies of the HTT gene were “knocked out,” resulting in the production of no HTT protein.

Remarkably, three weeks later, the researchers found that the CRISPR/Cas9 gene editing had reversed the disease process in their mouse model. Neurons in the striatum had stopped making the HTT protein. What’s more, the toxic, abnormal HTT protein that had already clumped together in and around the neurons—and which likely would have would have killed them—had begun to clear to varying degrees in the mice. The same went for other protein abnormalities associated with the progression of Huntington’s disease.

There was even better news to come. The Emory team repeated the CRISPR/Cas9 injections into the striatum of a dozen 9-month-old mice and got a similar protein-clearing outcome. Then, over the next three months, the researchers found that the animals’ balance, muscle coordination, and mobility had improved compared to mice given sham shots of CRISPR/Cas9. Interestingly, the degree of improvement in their motor skills corresponded with the amount of toxic protein that had been cleared from the striatum…”

“…This utilization of CRISPR/Cas9 to pursue a cure for Huntington’s disease is one more example of how this powerful new technology might be applied to the thousands of diseases due to a specific mutation in DNA; efforts are already underway for other conditions like sickle cell disease and muscular dystrophy. Given the promise, the NIH Common Fund is actively exploring ways in which this approach could be accelerated.”

The following article was snipped from NIH.gov’s blog. It describes another improvement in the gene editing research going on around the world. The process is still experimental, but it is moving in the right direction. Read my next article on Huntington's Desease. Kennedy's Disease could be right around the corner. 

To read the entire article, click on the title below.

GeneEditing: Gold Nanoparticle Delivery Shows Promise

Posted on October 10, 2017 by Dr. Francis Collins

…”NIH-funded researchers have developed a highly versatile approach to CRISPR/Cas9-based therapies. Instead of relying on viruses to carry the gene-editing system into cells, the new approach uses tiny particles of gold as the delivery system!

In order to fix a disease-causing mutation like the expanded DNA repeat that causes FA (Friedreich’s ataxia), researchers must create a CRISPR/Cas9 system that contains a scissor-like Cas9 enzyme and a synthetic guide RNA, which steers Cas9 to the specific part of the genome that needs to be snipped out. If a very precise correction is to be made, a repair template that contains the desired DNA code must also be included.

The challenge is delivering all these components into the appropriate tissues in a safe and efficient manner. Currently, most researchers use inactivated, non-disease-causing viruses to ferry various parts of the CRISPR/Cas9 system into cells. However, because of size constraints, it’s not possible to fit all three components into a single virus. Also, because of the large number of viral particles needed to carry CRISPR/Cas9 components in separately, there are concerns that viral delivery systems could trigger immune responses in people. Not only could such immune responses pose a safety hazard to patients, they could also reduce the effectiveness of the viral delivery system.

Because of these challenges, there’s been great interest in developing better ways to deliver CRISPR/Cas9 therapeutics. In the new study recently reported in Nature Biomedical Engineering, Irina Conboy and Niren Murthy at the University of California, Berkeley, decided to try a delivery vehicle they call CRISPR-Gold [1].

Gold might seem like an odd choice, but gold nanoparticles possess a special ability to penetrate cell membranes and have been considered for use in delivering therapies for cancer, rheumatoid arthritis, and many other conditions. In addition, gold is generally well tolerated by the human body and has the advantage of linking easily to DNA.

The CRISPR-Gold system—which consists of a DNA-linked gold nanoparticle containing Cas9, guide RNA, and a DNA repair template—is designed to enter cells through endocytosis, a process in which the cell engulfs outside molecules. A special polymer that encases the CRISPR-Gold system helps to ensure the gene-editing tools reach the cell’s genome in an active state.

In a series of tests, the researchers showed that CRISPR-Gold could enter a variety of cell types in laboratory culture, including immune cells, muscle cell progenitors, human induced pluripotent stem cells, and human embryonic stem cells. Once inside the cells, CRISPR-Gold could successfully find and edit a target gene in a non-toxic manner. Similar success occurred when CRISPR-Gold was injected into the muscles of living lab mice.

The next big challenge was to test CRISPR-Gold’s potential in a model of human disease. So, researchers turned to a mouse model of Duchenne muscular dystrophy (DMD), a fatal disorder characterized by progressive muscle weakening and caused by a mutation in the gene that codes for the protein dystrophin. They injected CRISPR-Gold containing a template for a healthy dystrophin gene into the leg muscles of young DMD mice. At the same time, they injected a toxin intended to encourage muscle cells to multiply because, for CRISPR editing to work optimally, cells must be actively dividing.

The outcome was encouraging. After one injection of CRISPR-Gold, about 5 percent of the dystrophin genes in the muscle tissue of the DMD mice had been corrected. What’s more, the animal’s muscles produced functional dystrophin protein, and they performed better on tests of muscle strength.

There was also good news on the safety front. The DMD mice didn’t appear to have a strong immune reaction to the treatment. The researchers also didn’t find evidence that CRISPR-Gold caused much, if any, unintended “off target” damage to the animals’ DNA.

Taken together, the findings suggest that, pending further replication, optimization, and careful testing, CRISPR-Gold might have promise for treating humans with DMD.

What makes this approach especially exciting is that it also holds potential for treating or even curing many other genetic diseases …”

I found the link to this article on the Kennedy’s Disease DownUnder Facebook page. You can read the entire article by clicking on the Title below. The ability to reproduce motor neurons that are the age of the patients could be helpful in studying the progression as well as potential treatments.

Scientists create new motor neurons out of skin cells

“… Scientists have converted human skin cells from adults directly into motor neurons without going through a stem cell state.

Motor neurons drive muscle contractions, and their damage underlies devastating diseases such as amyotrophic lateral sclerosis and spinal muscular atrophy, both of which ultimately lead to paralysis and early death. Scientists working to develop new treatments for neurodegenerative diseases have been stymied by the inability to grow human motor neurons in the lab.” …

“… The new technique makes it possible to study motor neurons of the human central nervous system in the lab. Unlike commonly studied mouse motor neurons, human motor neurons growing in the lab would be a new tool since researchers can’t take samples of these neurons from living people but can easily take skin samples.

Avoiding the stem cell phase eliminates ethical concerns raised when producing what are called pluripotent stem cells, which are similar to embryonic stem cells in their ability to become all adult cell types.” …

Importantly, avoiding a stem cell state also allows the resulting motor neurons to retain the age of the original skin cells and, therefore, the age of the patient. Maintaining the chronological age of these cells is vital when studying neurodegenerative diseases that develop in people at different ages and worsen over decades.

“… In this study, we only used skin cells from healthy adults ranging in age from early 20s to late 60s,” says senior author Andrew S. Yoo, an assistant professor of developmental biology at Washington University School of Medicine in St. Louis. “Our research revealed how small RNA molecules can work with other cell signals called transcription factors to generate specific types of neurons, in this case motor neurons. In the future, we would like to study skin cells from patients with disorders of motor neurons. Our conversion process should model late-onset aspects of the disease using neurons derived from patients with the condition.” …

“…The ability of scientists to convert human skin cells into other cell types, such as neurons, has the potential to enhance understanding of disease and lead to finding new ways to heal damaged tissues and organs, a field called regenerative medicine. …”