Rare Disease Day 2019

Rare Disease Day
Today is Rare Disease Day. I didn't know much about rare diseases until 2010. On June 18th, 2010, my then 11 year old daughter Morgan was diagnosed with Juvenile Dermatomyositis after being having increasing symptoms over the year and three months prior. It has been a long journey for Morgan over the last almost 9 years. It has also been a long journey for our entire family. I am so very proud of Morgan for how strong and brave she has been through it all. She has never, ever given up, and she has told her story all over the country to try to make a difference in healthcare and to raise awareness of Juvenile Myositis and of rare diseases overall.

Today, I want to share some of our journey and talk about rare diseases. Some facts  from NORD about rare diseases that you might not know.

• A rare disease is one that affects less than 200,000 people. Morgan's disease, Juvenile Dermatomyositis affects 1 to 3in a million patients, which is only about 70 to 210 patients diagnosed a year in the United States. There are only around 2,000 - 3,000 kids in the US.
• There are over 7,000 rare diseases that account for 10 percent of the US population or 30 million people affected in the US. 
• Patients with rare diseases are often misdiagnosed and delayed in finding a diagnosis. Many rare diseases take years to get diagnosed and are often called a zebra by medical professionals for that reason. Morgan went undiagnosed for about a year and three months. Early diagnosis results in better outcomes. 
• Only 5% of rare diseases have an FDA approved treatment. Juvenile Myositis does not have any FDA approved treatments, but thanks to Cure JM, we have a lot of research in motion, including medication trials.
• More people live with a rare disease than ALL of the people with heart disease, stroke, or HIV. 
• Many families and charity organizations are the only way that rare disease research happens. Cure JM Foundation is a parent volunteer-led organization that works tirelessly to raise money to fund research and to increase awareness. 

Morgan's Journey 

Morgan was a competitive cheerleader and gymnast who was a fantastic at tumbling. She could do all kinds of complicated flips and twists. She developed a mix of symptoms over time that we didn't put together as being related at first. 

Symptoms Included

• Several broken bones - some tumbling, some walking down the street. Doctors assured us nothing was wrong with her bones.
• Strep throat multiple times.
• Bumps on her elbow. We just thought it was some kind of skin irritation. She went to the doctor multiple times and tried several different creams and ointments.
• Her knees were red all the time. We thought this was just from tumbling and being on the mats.
• Bumps on her hands. We thought these were warts at first. Many doctors visits again for ointments and creams.
• She was losing her skills at tumbling. First her full. Then, her layout. Then, her tuck. Next her back handspring. We thought she had a mental block after having an injury.
• Fatigue. We previously called her the energizer bunny because she never stopped moving. Suddenly, I would go to pick her up at the gym and they would tell me she was sleeping and too tired to practice.
• No longer could do a hand stand. Her coach said he didn't think she was strong enough to tumble and encouraged basic strength exercises. We were baffled as she had been very strong for so long.
• Felt like her face was burning whenever we went outside. Redness on cheeks and purple eyelids. We thought she was being dramatic. :)
• Rash on ankles, knees, elbows, knuckles. This was what finally clicked. It was on all of her joints. Her pediatrician sent us to the dermatologist thinking she had psoriatic arthritis. 

The dermatologist asked a lot of questions, and I knew she was evaluating Lupus. She eventually said she thought it was psoriasis and said she needed a biopsy "to get the insurance company to pay for it." The doctor got all teary-eyed giving us the diagnosis, which terrified us both. I was afraid to ask questions. 

She was immediately started on oral steroids and then IV steroids and Cellcept, an organ transplant rejection drug, a month later. Three months later, she started IVIG, a product made from human plasma, which made a huge difference. She has continued to take 21 pills a day and get two infusions once a month for almost 9 years now. She crossed 100 hospital admissions this year.  The entire process has been a trial and error experience. There is no "standard" treatment that you just put someone on. There is no test to easily assess how her body is working. It takes a skilled rheumatologist to evaluate all of the signs, symptoms, tests and patient/parent input to figure it out.

Juvenile Myositis

Juvenile Myositis happens when the immune system is activated, but something like strep throat, a sunburn, or the response to an immunization, and it can't shut off. It starts attacking healthy tissue which causes inflammation in the blood vessels that lie under the skin and in the muscles. The inflammation causes the weak muscles and skin rashes. The inflammation can also affect other areas such as the digestive tract, heart, lungs, and joints.  It can be life-threatening, and we have too many JM Angels already. We need to find better treatments and a cure

Cure JM Foundation

We are so very thankful that we found the Cure JM Foundation on the very day that she was diagnosed. I posted a question on a message board, and an experienced mom called me that night. She told me to get a pad and pen and that she would give me all her knowledge. This group not only gives us hope by funding important research and by raising awareness, the network helps us know we aren't alone and shares practical advice and solutions. 

We are thankful for all of the support we have had from our family and friends. Our family has never wavered in listening, donating, participating in events, and giving us strength. 

Morgan, your path has not been easy since that July 18, 2010 diagnosis. Then, you were hurt in an accident that resulted in more rare issues. You are my one in a million in so many ways. Stay strong. Show your stripes. You are rare and amazing! I love you!