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Monday, June 23, 2014

Connecting With Community

By Maya Brown-Zimmerman

Maya Brown-Zimmerman

Author’s note: You might have seen the headlines: Isaiah Austin, a projected NBA draft pick from Baylor University, was just diagnosed with Marfan syndrome, the genetic disorder that about 200,000 other Americans (including myself) have. This diagnosis comes with significant life changes, and for Austin, 20, that unfortunately includes a new career. Professional basketball and other high-impact sports are not recommended for people with Marfan because of the risk of aortic rupture. I imagine this is a tremendous shock to him, especially at this stage in his life: an adult, about to embark on a career that’s been a long-held dream. The thoughts of the Marfan community are with him and his family at this time.

It’s been almost 21 years since I was diagnosed with Marfan syndrome, a rare disorder of the connective tissue that affects most of the body, including the heart, eyes, lungs, and bones. There are many things I’ve learned about my diagnosis and about myself over the years, but the lesson I’m reminded of over and over is the importance of community.

I was initially diagnosed at 8 years old. At that age, I couldn’t understand what having Marfan really meant – I just knew that I had to stop riding horses and playing basketball.

As I got older, though, I became increasingly angry about my diagnosis. It was obvious I wasn’t like the other kids: at 13 years old, I was nearly 6 feet tall and weighed only 90 pounds. I was tired of being left out of activities, tired of being made fun of, tired of my parents hovering over me. I felt all alone. I handled this by rebelling against my doctors’ and parents’ orders.

It was my mother who realized that meeting other people with Marfan would do me good. We connected with a local group, and I met a girl my age that I hit it off with right away. Through the local group, we eventually got involved in the national foundation, and a year later I attended my first national conference. I lack the words to adequately describe what it was like to  meet  other kids my age who were like me. It was life-changing. I felt like I was home.

As a result of the friendships I developed through the foundation, my entire outlook on Marfan syndrome and myself changed. I began to be proactive in my health care and in educating others. I started volunteering with the national foundation. I became able to accept that, although having Marfan syndrome doesn’t define me, it is a part of who I am … a part that I now can love and appreciate.

I sometimes meet parents who are afraid of getting their children involved with their diagnosis community. My father was one of them. He was afraid that meeting adults with Marfan and seeing what my future could hold would scare me or make me see myself as sick and helpless. That couldn’t have been further from the truth! In the adults I met, I saw people who were happy and successful, people who became my mentors. In my fellow teens I saw resilience and creativity. And so to any parents who have the same fears as my father, I say please allow your child to participate in the community if they want to. Nothing can compare to having peers who truly DO know what it’s like to walk in your shoes!

In 2 weeks, I’ll find myself at the annual Marfan Foundation conference yet again. This will be my ninth conference, and these days I run the teen program with a friend I met at my first conference, 15 years ago. There will be close to 100 teens this year. I can’t wait to see them creating and sustaining those life-changing connections with each other.

What about you? Have you been able to connect with others who share your diagnosis? Has it been helpful to you?

Maya Brown-Zimmerman, MPH, is a patient advocate and volunteer with The Marfan Foundation as a member of the board of directors and coordinator of the teen program. She also chronicles the ups and downs of parenting two sons with special needs while having a chronic illness herself at Musings of a Marfan Mom.

Posted by: WebMD Blogs at 2:16 pm

Tuesday, June 10, 2014

Taking Back Summer

By Jaime Moy

summer

Summer’s finally here, and after the long winter with subzero temps, many people can’t wait to get out and enjoy the sun. But for those of us with chronic health conditions, the summer heat and sun can bring challenges.

Some of the challenges are physical: Sun exposure may make your disease worse or increase medication side effects. But there are emotional challenges, too. Having to work around your chronic condition in the summer may make you feel like your condition is controlling your life.

And if you have a skin condition like psoriasis (like I do), summertime brings anxiety about exposing your condition. Wearing your summer shorts makes you feel uncomfortable and exposed. You see the short-sleeved shirts and strapless sundress hanging in your closet, but you feel too self-conscious to wear them. And swimsuits? Not a chance. You don’t want anyone staring at your red, itchy skin.

I know that feeling all too well. I used to cover up with long sleeves and pants, sweating in the summer heat. I wanted to enjoy days at the pool, but baring my skin seemed so risky. I was sure people would stare and whisper as I walked by, so I stayed covered up and ended up limiting my comfort, style, and self-worth.

Finally, I decided enough was enough.

Three years ago, my husband and I went to Las Vegas to renew our wedding vows. Nothing fancy — just us, two good friends, and Elvis. Oh, and a huge psoriasis flare on much of my body. Most of my back and chest, along with my legs and arms, were covered with red spots. I thought about cancelling the trip, but I knew we wouldn’t get the chance for that kind of trip again.

I made the decision to take control over how psoriasis made me feel. I decided that psoriasis could take my skin, but it was not going to take my happiness. Surrounded by people who loved me, I got the extra courage I needed to walk down the aisle with my short, sleeveless dress. Soon, I forgot about the psoriasis and just enjoyed the wonderful experience.

Maybe this will be the summer you, too, will take back control over the fear of what others think. Sometimes, making that leap can be the bravest and most empowering thing you do for yourself. Take a deep breath, count to three, and then go for it.

Fear can be very limiting, so to help yourself overcome it, find strength in numbers. If you have psoriasis or another skin condition, gather a group of psoriasis patients and go to the pool together to support each other. You may get some stares, gasps, and rude remarks about your skin — especially poolside — but use this opportunity to spread awareness about your disease. Education can be good medicine for everyone.

Jaime Moy is a National Psoriasis Foundation community ambassador in Waterford, MI. She and her son have psoriatic arthritis, an inflammatory type of arthritis that affects the joints and tendons and occurs in up to 30 percent of people with psoriasis.

 

Posted by: WebMD Blogs at 8:07 am

Monday, May 5, 2014

From Surviving to Thriving

By Courtney Westlake

Courtney Westlake and daughter

Courtney Westlake is a patient advocate and volunteer for FIRST, Foundation for Ichthyosis & Related Skin Types. Her 2 year-old daughter, Brenna, is affected with Harlequin ichthyosis, a rare and severe skin condition. Courtney shares personal insights, clinical explanations of ichthyosis, and updates to Brenna’s progress in her blog, Blessed by Brenna.

My daughter, Brenna, was born with a rare and severe skin condition called Harlequin ichthyosis, which causes her skin to form in thick, tight plates with deep fissures. The condition makes her very susceptible to bacterial skin infections and dehydration and unable to regulate her own body temperature – she can’t even sweat. Harlequin ichthyosis is so severe that many babies born with it die within the first few days of life. Brenna survived, but spent her first 5 weeks in the neonatal intensive care unit and was hospitalized four additional times for infections and dehydration during her first year of life.

That very difficult time pushed me deep into the trenches of survival mode. Life continued around me at lightning speed, but all that I could focus on was whether my child would live.

The first year of Brenna’s life, I often felt like I was being smothered. Smothered in grief, frustration, stress. My heart, though full of love for my family, was often heavy with the thoughts of the direction my life was going. At that time, I could see what I was giving up much more clearly than what I was gaining.

Brenna’s care was – and still can be – very overwhelming. We must coat her entire body in Aquaphor every few hours to keep her skin moist and comfortable. We give her a long daily bath where we exfoliate her skin, because her body produces skin about 10 times too fast, and skin scales build up without exfoliation. (We also regularly add bleach to her bath to kill bacteria on her skin.) And Brenna’s nutritional demands are enormous, as her body uses so many calories to make skin, which resulted in her having a g-tube placed in her stomach when she was 8 months old.

All of this consumed me in the months following her birth, and I don’t remember much else. I was surviving, and that was the only option at the time. I lived 1 day at a time that year, maybe 1 week at a time during the better times.

But eventually time wore on…and we began to adjust. And I started to realize that I had a choice in how I moved forward: I could continue living day-to-day, or I could rise up and live both in the present and with a vision for the future. I realized that even though you may not be living the life you had planned, that shouldn’t stop you from living the life you were meant to.

I began to take steps to leave survival mode behind:

Accept Help: First and most importantly, I accepted help. I don’t usually like to lean on others, but I knew that I needed a lot of help at this time. I relied so heavily on everyone in my life for help – meals, house cleaning, dry cleaning pick-up, babysitting, gift cards, grocery shopping, and more. And without this help, I know it would have taken me much longer to begin thriving again.

Say No: I said no and stepped away from just about everything I had been involved with so that I could focus on my family. I’m a person who likes to be busy and says yes to everything, but I realized that saying no was vital at this time. I cut my work at my photography studio way back, I stepped away from volunteer roles with community organizations, and I quit most of my freelance writing jobs.

Stick with a Routine: I forced myself to get dressed every morning and follow a schedule. We also have a son, Connor, who was 2 when Brenna was born, so finding a routine was positive for him, too.

Focus on The Positive: I did my absolute best to focus on the positive and the good around me because I knew life would be much, much harder if I didn’t.

And I would say with complete certainty that every morning I got dressed, every time I focused on what we could do instead of what we couldn’t do, every time I made myself smile instead of cry, it was worth it.

I found that I was no longer feeling like I was giving things up, but instead, it felt like I was being pulled in new directions, better directions. And I could follow those new paths by choosing the best attitude every day, by choosing to live with intention, by goal-setting again, by using my time wisely.

Brenna turned 2 in December 2013. Gratefully, even though Brenna’s health is obviously a top priority for our family, our lives are now becoming much fuller with other passions and priorities that we have. I’ve been able to step back into some of my former roles, and I’ve chosen some new ones, too – like becoming involved in FIRST to help raise awareness of Harlequin ichthyosis. I am no longer simply surviving, but I am living with intention and purpose again…and much more so than before Brenna’s birth because of the wonderful lessons she has taught me about how beautiful different can be. Now that I have stopped mourning the loss of the life I had planned, I am discovering every day that the life I am meant to live is so much better.

 

Each year, more than 16,000 babies are born with some form of ichthyosis. Of those, approximately 300 are born with a moderate to severe form. Since ichthyosis is a rare genetic skin disorder, it often does not receive the attention or funding necessary for sustained progress toward a cure. This blog is featured as a part of Ichthyosis Awareness Month, which is celebrated in May. To learn more, visit the FIRST, Foundation for Ichthyosis & Related Skin Types, Inc. website at www.firstskinfoundation.org.

Posted by: WebMD Blogs at 2:07 pm

Thursday, February 27, 2014

Reflections on Living with a Rare Disease

By Maya Brown-Zimmerman

Maya Brown-Zimmerman

Maya Brown-Zimmerman, MPH, is a patient advocate and volunteer with The Marfan Foundation as a member of the board of directors and coordinator of the teen program. She also chronicles the ups and downs of parenting two sons with special needs while having a chronic illness herself at Musings of a Marfan Mom.

Marfan syndrome is a connective tissue disorder that affects about 1 in every 5,000 people, though only roughly half of affected people are aware they have it.

 

February 28 is Rare Disease Day, a time for all of us living with a rare condition to band together for awareness and improved funding for research initiatives. On a personal level, it prompts me to reflect on what it means to have a rare disorder.

Some days, having a rare disease means loneliness. It’s hard being the only person like you that you know of (especially true for me when I was a teen). Your friends and family might be well-meaning, but they don’t understand your fears or frustrations, what it’s like to live in a body that doesn’t always function like it should. And if your family and friends aren’t supportive, it’s even more difficult.

Some days it’s frustrating. You’re constantly having to educate your doctors. Most of them read a paragraph on your condition sometime in medical school, if that. It gets exhausting to stay one step ahead of the latest treatments, to search out the specialists, and argue it out with your local docs.

But there are some upsides. Your values change. I try to live in the moment. I never let a day go by without my family and friends know what I think about them. I’m truly grateful for my health and work hard to preserve it, while I realize that a working body is something many people my age may take for granted.

I’ve also connected with a rich online community. Social media is a great way for anyone to connect, but it’s particularly vital to the rare disease community. We may not get the in-person support we desire, but we can often find it via Facebook, forums, and blogs. Those friendships are real, and the information exchanged life-enhancing and even life-saving. I help moderate a large Marfan syndrome and related disorders forum, close to 3,500 strong. I’ve been able to “meet” people all over the world that way, occasionally even connecting with locals I didn’t know existed. Those relationships help drive awareness and research efforts, and strengthen me so much. These relationship can bring about sadness, as we lose friends too soon, and I find that I’ve had to learn to deal with loss much earlier than my peers. When all is said and done though, I’m immensely grateful for the friendships I’ve developed through The Marfan Foundation and Facebook.

Do you have a rare disease? What does having a rare disease mean to you?

Posted by: WebMD Blogs at 10:20 am

Friday, October 25, 2013

Fight for Treatment

By Jaime Moy

Jamie Moy and son, Andy

My 15-year-old son Andy and I both suffer from psoriasis and psoriatic arthritis. Psoriasis is a chronic disease of the immune system that appears as red scaly patches on the skin that crack and bleed. For many, the health problems related to the disease go far beyond the skin, causing psoriatic arthritis, heart disease, diabetes, depression, cancer and more. Access to treatment is vital.

For Andy and me, treatment includes chemotherapy and biologic medications. Without them, we would be spending most of our days in wheelchairs. Our days would be consumed with how to get rid of the itchy, burning plaques covering our bodies. We would wake up nightly in pain and feel tired all day. My son would have severe chest and jaw pain that would make eating and breathing very difficult. My eyes would stay inflamed and my vision may be permanently damaged. Thankfully, our medications make it so that we can function almost like normal. For us, treatment has significantly improved our quality of life.

Not everyone is as lucky. Access to care can be tricky, frustrating, and downright exhausting. Don’t give up. Help is available:

  • Review online message boards to find out how others have gained access to care, even when it seemed like a dead end. Share your tips with others who may be experiencing the same roadblocks.
  • Check with your state or local health department to see if they have a Children’s Special Health Care Services (CSHCS) program.  In Michigan, children with chronic health conditions, including psoriasis and psoriatic arthritis, may qualify for Michigan’s Children’s Special Health Care Services, a division of Medicaid. While there are exceptions, CSHCS covers all services and treatments related to Andy’s chronic diseases that our primary health insurance does not cover. This includes all copays and coinsurances required by our primary insurance. There is a fee to join, but it is based upon income and family size.
  • Contact drug manufacturers to find out if they have payment assistance programs to help defray medication costs. Sometimes, the assistance is based on financial need, but other times, it is an enrollment program that every patient can use.
  • If you are lacking in treatment and care of your psoriasis or psoriatic arthritis, contact the National Psoriasis Foundation to find out what options may be available. The organization can help you find doctors, provide information on various treatments, and help you navigate insurance blocks.

Keep searching for alternatives and ways to turn a “no” into a “yes.” Everyone should have access to medical treatments.

On October 29, people from across the globe will unite in a common cause: speaking up and demanding access to fair and affordable treatment for their psoriasis. World Psoriasis Day aims to raise the profile of a condition that needs to be taken more seriously by national and international authorities. Join me and the National Psoriasis Foundation on World Psoriasis Day to make treatments affordable for all. Share your story and take action at www.psoriasis.org/wpd.

 

Jaime Moy is a National Psoriasis Foundation community ambassador in Waterford, MI. She and her son have psoriatic arthritis, an inflammatory type of arthritis that affects the joints and tendons and occurs in up to 30 percent of people with psoriasis.

Posted by: WebMD Blogs at 11:54 am

Friday, September 20, 2013

When a Condition Runs in the Family

By Jaime Moy

Jamie Moy and son

“So, who in your family has it?” That question plagued me for three years after my son’s diagnosis of psoriasis at age 4 in 2003. Like many autoimmune diseases, psoriasis often runs in families, but no one that I knew had this disease, let alone any one in my family. Still, doctors persisted and asked that question at nearly every appointment.

But, let me back up and start at the beginning of our journey with psoriatic arthritis.

At age 4, my son Andy had a huge circle of what looked like cradle cap on his scalp. You often hear about a mother’s intuition, but it was his father’s feeling of “this just isn’t right” that led us to seek medical treatment for ringworm. After four weeks of intense antibiotics that didn’t clear up his scalp even a little, we turned to a dermatologist. He took one look at Andy and said psoriasis — not ringworm— and a biopsy of his scalp scales proved it.

So, that’s when the big question started: “Who in your family has psoriasis?”

After about six weeks, Andy’s psoriasis went into a full flare, covering most of his body from head to toe. Frequent visits to the dermatologist during the next year were common as we tried unsuccessfully to get his disease in check, and the doctors kept asking that same question.

Then, when Andy was diagnosed with juvenile psoriatic arthritis at age 5, his pediatric rheumatologist asked, “Does anyone in your family have psoriatic arthritis?”

Turns out, I do — only I didn’t know it at the time. It wasn’t until three years after Andy’s diagnosis of psoriasis that I started getting red, scaly spots on my arms, chest and back. I knew right away what it was. Six months later, I received a diagnosis of psoriatic arthritis. It was 2007 and I was 28 years old.

“Fantastic!,” I thought. “I gave both diseases to my son. I’m feeling like the best mom in the world.” And to add to my guilt, my disease was extremely mild and Andy’s was severe. A few topical creams and over the counter anti-inflammatories used occasionally kept my disease in check. But Andy was already taking nine medications, including methotrexate, a low-dose chemotherapy drug given once a week by injection, and a new biologic that was just approved for children.

Over time, I came to realize that I did not give Andy psoriatic arthritis. Sure, I may have inadvertently passed along some of my genes, but it took a trigger like strep throat to start his skin inflammation. In hind sight, we’re pretty sure Andy had signs of arthritis years before his diagnosis. As first-time parents, we just didn’t know what we were witnessing.

Fast forward to spring 2012 when the severity of my disease caught up with Andy’s. Stress triggered a flare and sent my disease out of whack. Now having visible scalp psoriasis and plaque psoriasis on my body, and my arthritis not allowing me to even grip the steering wheel to drive, it was time to step up my treatment. After six months of unsuccessful treatments, I started putting my disease at bay with a biologic.

So, who in my family has it? Me. Along with cousins, uncles and other family members. Not long after my diagnosis, I found out that psoriatic arthritis runs on my biological father’s side of our family tree. He died when I was very young.

If you consider that psoriasis is the number one autoimmune disease in the U.S., affecting 7.5 million Americans, it’s no surprise that my psoriasis “family” now extends coast to coast and even across the world. By seeking support on TalkPsoriasis.org, I know that I am not alone. I know Andy is not alone.

And those feelings of guilt I had of passing on the diseases to my son? They rarely creep up any more because I know there was nothing I could do. Instead of feeling down, we focus on volunteering with the National Psoriasis Foundation and helping other families who are just starting their journeys with these diseases. It’s amazing how much better you feel when you know you are making a difference in others’ lives and helping them to realize that they are not alone.

 

Jaime Moy is a National Psoriasis Foundation community ambassador in Waterford, MI. She and her son have psoriatic arthritis, an inflammatory type of arthritis that affects the joints and tendons and occurs in up to 30 percent of people with psoriasis.

Posted by: WebMD Blogs at 2:17 pm

Friday, September 13, 2013

Lessons in Strength and Optimism

By Maureen Neville

Maureen Neville

Maureen Neville is the Communications Director for FIRST, Foundation for Ichthyosis & Related Skin Types®. FIRST’s mission is to educate, inspire, and connect those touched by ichthyosis and related disorders through emotional support, information, advocacy, and research funding for better treatments and eventual cures. Prior to joining FIRST, Maureen’s fifteen-year career spanned the roles of creative writer, marketing strategist, and account manager, in both corporate and ad agency settings.

When someone discovers that I am the Communications Director for FIRST, the Foundation for Ichthyosis & Related Skin Types®, typically, I am greeted with the same three questions: “What is ichthyosis?”, “Is someone in your family affected?” and…“What brought you to FIRST?”  Five months ago, during my very first week at the foundation, I may have responded by saying: ichthyosis is a family of genetic mutations of the skin characterized by dry, scaling skin that may be thickened or very thin, and most forms of the disorder are very rare. And, no, I am not affected, nor do I know anyone affected with the disease – I simply answered an online advertisement for a position that suited my skills and interests. No epic story, I’m afraid.

You see, five months ago, I believed that the equation for rare genetic disease was quite simple: those affected are in the most vulnerable of positions, and those not affected must commit to helping whenever possible. We are the helpers; they need our strength; our optimism; they are the recipients of our compassion and helpfulness. So, I rolled up my sleeves and prepared to assist in anyway I could.

However, what I discovered rather quickly, is that they are, in fact, the strong ones; the courageous. They are the ones living a unique life experience; they will have the lessons to teach.

So what is ichthyosis? It is a genetic skin disorder, yes, but it has also been the catalyst that has lead me on a worldwide journey of meeting the bravest and most inspirational people of my life. Ichthyosis has made their lives challenging, but those affected are most definitely not helpless.

  • Courage: The courageous young mother from Illinois, whose baby was born with Harlequin Ichthyosis, a severe form of ichthyosis whereby those affected are highly susceptible to infection and display dry, reddened skin, which may be covered by large thin scales, and sparse hair. However, this young woman has not only accepted her fate of grueling skin care routines, a daily parade of doctors and therapists, and caring for an infant through unprecedented surgeries – but considers it a wondrous blessing; one that she is delighted to share, daily, with the entire world.
  • Leadership: The young woman from Australia with Netherton Syndrome a form of ichthyosis that presents itself with skin that is very red, scaly and irritated, who has turned her strife into a worldwide “appearance advocacy” effort, changing the way people perceive disability by offering words of empowerment and guidance to all those who “look different” everyday.
  • Enlightenment: The teenager from Canada, also with Netherton Syndrome, who recently shared with us his moment of enlightenment – when after years of questioning his existence, finally realized that because he beat the odds of not “dying by age three,” as doctors had predicted, his life was “not a merely ordinary existence, but a destined one.”
  • Happiness: The twenty-year old woman from Arkansas, with the mile-wide smile, who is known by FIRST to be the second oldest living individual with Harlequin Ichthyosis; who has not let ichthyosis steal a single moment of her life – and in fact, is now joyfully caring for her three month old son.
  • Devotion: And of course, the team of medical doctors, stowed away in a clinical laboratory at Yale University, for nearly 31 years, fueled by one and only one thought: finding a cure.

Each day, they defy the odds and travel their paths alongside a disorder for which, presently, there is no cure. In fact, it is their hope that is the driving force behind the mission of FIRST – to educate, inspire, and connect all those affected by ichthyosis. And it is their hope that expands the definition of ichthyosis to the far corners of the human experience – far beyond the diagnosis of a rare genetic disorder.

So what is ichthyosis? It is a message; a call for human compassion; an invitation to experience the authentic awareness of “other.” It is the doorway to unprecedented medical advancements and, most remarkably, it has become an opportunity for worldwide connections…and the chance for global unity.

Posted by: WebMD Blogs at 12:53 pm

Friday, August 30, 2013

“Behind the Scenes” of Treatment Development

By Christopher P. Austin, M.D.

Christopher P. Austin

Christopher P. Austin, M.D., is director of the National Center for Advancing Translational Sciences at the National Institutes of Health. NCATS aims to transform the translational science process so that new treatments and cures for disease can be delivered to patients faster.

Prior to coming to the National Institutes of Health (NIH), I was a practicing neurologist. I well remember the heart-wrenching experiences of standing at the bedside of patients who had lost the ability to breathe on their own, or worse, and knowing I could not offer more.

Several thousand diseases affect humans, yet fewer than 500 have any effective treatment. A special group of researchers, known as translational scientists, aim to address that gap by taking basic discoveries about the causes of a disease and transforming (or “translating”) that knowledge into a new treatment — such as a drug, medical device, diagnostic test, or behavioral intervention — that tangibly improves human health.

Today, the process of developing a new intervention is slow and expensive: It takes around 14 years and $2 billion or more, and about 95 percent of these attempts fail during development. And even when a new therapy is shown to be effective, it can be challenging to identify and serve all patients who could benefit.

Why all that time and cost? Because many obstacles stand in our path, including:

  • Most people do not understand the process involved in turning a basic laboratory discovery into a new treatment.
  • There are too few opportunities for collaborations between the public and private sectors.
  • Clinical trial designs are often inflexible and inefficient, and there is low patient participation in studies.
  • The regulatory hurdles are sometimes difficult to overcome.

Patients play a critical role in helping to overcome these hurdles because they bring urgency and focus that motivate scientists to find answers to the problems.

By joining and working with scientific and health advocacy organizations, patients can

  • Serve on and support scientific project teams to help NCATS identify translational roadblocks and better understand the needs of people with chronic conditions.
    • A great example is our Therapeutics for Rare and Neglected Diseases (TRND) program, which aims to speed the development of new drugs for rare and neglected diseases.
    • Another is our Office of Rare Diseases Research, which helps patient support groups become partners with NIH, better understand NIH research programs and initiatives, and gain better access to NIH research opportunities
  • Help improve methods to evaluate how new treatments and other interventions affect a patient’s quality of life.
  • Volunteer to help with clinical trial recruitment campaigns.
  • Help support independent research that complements NCATS’ work and thus accelerates health advances.

I am sometimes asked why I am so committed to patient involvement in all aspects of NCATS’ work. The answer is simple: because it speeds the translational process and makes it more efficient and effective — exactly NCATS’ mission. NCATS will continue to evolve over the next several years to address the enormous needs and opportunities in translational science. We are committed to involving patients as partners at every stage of the process so that our efforts provide meaningful benefits to patients in need.

To learn more about NCATS, please visit www.ncats.nih.gov.

 

 

Posted by: WebMD Blogs at 9:54 am

Friday, August 9, 2013

Teaching Your Child to Advocate for Himself

By Jaime Moy

mother and son

As parents, it can be easy to hover over our kids and come to their rescue before they even realize they need rescuing. And, if your child has a chronic illness like my son with juvenile psoriatic arthritis, the temptation is compounded. Chances are, kids with chronic diseases have seen enough pain, needle pokes, and medication side effects at a young age to last a lifetime. The last thing we want is for our children to hurt even more. This is especially true at school.

To protect our kids, we swoop in with our mom and dad superhero capes and become protective force fields that dodge all insensitive questions from classmates and unrealistic demands from teachers. Sooner or later, we have to retire our superhero costumes and accept the fact that we aren’t with our children 24/7 and we can’t save them from every situation. Nor should we.

During a meet and greet before kindergarten, my son was covered nearly head to toe with psoriasis. I tried to get him to wear long sleeves and jeans to hide the plaques so that he wouldn’t have to answer embarrassing questions. He refused and only wanted to wear a T-shirt and shorts. It was one of the hottest days of summer, so you couldn’t blame him.

I took a deep breath, and we went in his classroom to meet his teacher. While I was busy talking to the teacher, I heard another child ask, “What’s that on you?” Before I could even turn into Super Mom, my son said in a matter-of-fact tone, “Oh, it’s ok. It’s psoriasis. It’s kind of like bug bites because the spots are itchy. But you can’t catch it, so it’s ok.” This other little boy and my son became good friends that year.

While you’ll probably wear your Super Mom and Super Dad capes more often in elementary school than in middle school or high school, kids can start advocating for themselves in kindergarten. Just remember that they might not be able to handle everything themselves and will need some coaching along the way. Be on stand-by and ready for action if the time arises. In the meantime, here are some ideas to get your kids empowered:

• Tell them your story. Have your child explain to the class what disease he has and how it makes him feel. It can be intimidating being up in front of the class alone, so bring a friend and do it together. Be sure to explain the disease in your own words, just like my son did with his psoriasis. Older kids can use class assignments like giving a speech or writing a paper to educate the class. Your child will probably get questions, and while some may be insensitive, the majority will just stem from curiosity. The more students know about the disease, the easier it will be for your child. While Psome.org is geared for children with psoriasis and psoriatic arthritis, it offers ideas that students with other diseases can adapt to teach the class.

Get a 504 Plan in place. Parents need to take the lead, but you can request your child be present at the meetings. This is a great way to start communication between the school staff and your student, showing that everyone is on the same page and has the same expectations. That can make it less scary for your child to speak up when he needs more time to finish a test or needs to sit out during gym class, which are part of his accommodations.

• Engage students with disability awareness activities. When my son was in fourth grade, his class attended a disability awareness assembly. The students used canes and blindfolds to better understand what it was like to be blind. They were subjected to loud noises and chaos to demonstrate how it feels to have autism. The students got a real perspective on my son’s disease when they used wheelchairs to navigate an obstacle course to better understand what it was like to not be able to walk. The Center for Disability Leadership in Virginia has a document you can download that includes disability awareness activities for students.

• Get involved with an anti-bullying campaign. Unfortunately, children with chronic diseases can make themselves targets of bullying. Have your child fight back by starting or getting involved with an anti-bullying school campaign. Many schools are taking a zero-tolerance stance on bullying and would welcome a program. StopBullying.gov provides information on how kids can prevent or stop bullying. Being a part of the solution can help kids feel better about the situation.

By giving kids the tools to become advocates for themselves, they will feel more empowered and feel more control over certain aspects of their disease. It will also allow Super Mom and Super Dad to take a day off every now and then.
 
Jaime Moy is a National Psoriasis Foundation community ambassador in Waterford, MI. She and her son have psoriatic arthritis, an inflammatory type of arthritis that affects the joints and tendons and occurs in up to 30 percent of people with psoriasis.

Posted by: WebMD Blogs at 1:46 pm

Friday, August 2, 2013

The Joy of Raising a Chronically Ill Child

By Shelley Bowen

Shelley Bowen and her son Michael

Shelley Bowen is a founder of the Barth Syndrome Foundation (BSF) and currently serves as Director of Family Services and Physician Awareness.  Both of her sons lost their lives to Barth syndrome (BTHS).  She believes it possible for everyone who has BTHS to have an accurate diagnosis and every parent has the capacity to be transformed from a powerless bystander into an empowered advocate when given the proper tools.

BTHS is a life-threatening, clinically variable genetic condition.  Cardinal characteristics of BTHS include cardiomyopathy, neutropenia, growth delay, under-developed skeletal musculature and muscle weakness.  For more information about Barth syndrome, visit the Barth Syndrome Foundation Website www.barthsyndrome.org.

In the late 1970s, my high school English teacher gave our class an assignment to write an essay about what we wanted to be when we grew up. My female classmates wrote about their aspirations of becoming the first female president, a doctor, a lawyer, a civil rights advocate, a detective, a UN translator, a teacher, a missionary, and an entrepreneur.. Many of these professions were once considered a man’s job. My aspiration was to be a mother. After grading the papers my teacher (who was a wonderful woman) asked to speak with me. She was concerned I was not embracing my full potential. She declared it was possible to be a mother and still have a career. I thoughtfully considered her perspectives and responded: “Our assignment was to select the singular profession we would like to have when we grow up. I agree it is possible to have a career and be a mother, but I believe being a mother encompasses all of the career choices my friends wrote about. Mother Teresa never had children of her own, but, nevertheless she was an admirable woman who mothered thousands. She embodied everything my friends wrote about, and more.” I was surprised to see tears in her eyes as she picked up her red pen, marked through the big red “C” on my paper and replaced it with an even larger “A+.”

I did become a mother to three children. In 1988, my youngest child was admitted to the PICU in critical condition with heart failure. Two weeks later, his brother was admitted with heart failure. My world fell apart. I wasn’t sure what was going on. The doctors were equally stumped. As time went on, new symptoms arose (neutropenia, hypotonia, failure to thrive, small stature and frequent infections), which led the doctors to suspect my boys had some type of X-linked genetic syndrome.

This was not the motherhood I had prepared for. I read all the books on the shelves about raising children, but there wasn’t one entitled The Joy of Raising a Chronically Ill Child. The books prepared one for the joy of parenting a healthy child. In spite of the frequent hospitalizations there was joy, tremendous joy. I felt so ill-equipped. Then I remembered that “A+” I earned on my high school English essay. I had it in me to be the best mother possible.

Because of their challenges, every milestone my boys achieved was so much sweeter. Every word they uttered was music to my ears. Every day I had with them was a day I never took for granted. Barth syndrome claimed Evan’s life in 1990 at the age of 4, and it later claimed Michael’s life when he was 23 years of age. I cherish every moment I had with my boys, because moments are better than “nevers.” In addition to my boys, I am blessed with a beautiful daughter, Alanna. She was diagnosed with mosaic Turner syndrome when she was 13 and has grown into an amazing woman. All three of my children have raised me to become the woman I am today.

When I wrote the essay about what I wanted to be when I grew up, I was just a teenager. I had no idea how prophetic those words would be in defining me. I was a carrier of Barth syndrome and would be the mother of two boys who, ultimately, lost their lives to this disorder. I created a non-profit, Barth Syndrome Foundation, that would help others. I became an advocate for my sons and others who are affected by Barth syndrome. I mastered concepts of human physiology, learning a new language (medical terminology) and translating it into understandable terms in order to help others. I gained entrepreneurial skills to support those who had a rare disorder affecting so few in the world. I have made it my mission to spread awareness about Barth syndrome around the world. I hope that my former teacher would be proud of my accomplishments.

 

Posted by: WebMD Blogs at 11:09 am

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