How Lucky Can a Rare Disease Be?

As St. Patrick’s Day approached, I thought about how we are lucky Hunter was diagnosed with Spinal Muscular Atrophy (SMA), in the realm of rare diseases. SMA has a genetic test for diagnosis, support organizations, research organizations, and promising treatments on the horizon. One in ten Americans is affected by a rare disease, which equates to about 30-million individuals in the U.S. Half of the individuals with rare diseases are children. Hunter just happens to be one of these rare children.

Lucky to Have Support

Support organizations in the rare disease community are crucial. The diagnosis of a rare disease is devastating. Sadly, nearly half of rare diseases lack any dedicated support organization. SMA has many support organizations. Cure SMA has been with us from the time Hunter was diagnosed. They sent Hunter a care package along with a binder full of information about SMA. Additionally, Cure SMA provides each newly diagnosed patient’s family with a scholarship to attend their annual conference. The conference is invaluable and provides information on care, support, and fundraising. It is also a networking opportunity for those with SMA and their families. Blankets for Spinal Muscular Atrophy (B4SMA) sends blankets to kids diagnosed with SMA. B4SMA sent Hunter a blanket in the first week I reached out to the online SMA communities. Its founders MJ Purk and Brenda Hanson also put me into contact with a local SMA mother. There are also several Facebook support groups for SMA. Support groups are vital in helping individuals with rare diseases connect with one another to provide encouragement and share experiences. I can’t imagine fighting SMA without the support groups. They help me maintain a high standard of care for Hunter, and provide social and emotional outlets.

Lucky to Have Research

Research organizations are important to the rare disease community. They identify genetic tests and potential treatments. Only about half of the rare diseases have research organizations. The SMA community is fortunate to have several. The SMA Foundation has a mission “to accelerate the development of a treatment for SMA.” The SMA Foundation is personal to its founders, Loren Eng and Dinakar Singh, as their daughter Arya has SMA. Loren and Dinakar have personally donated $100 million to the SMA Foundation, making it by far the single largest funder of SMA research. Brian Kaspar, Ph.D., and Arthur Burghes, Ph.D., of Nationwide Children’s Hospital and Ohio State University collaborated to develop a gene therapy as an SMA treatment. Ravindra Singh, Ph.D., developed an antisense oligonucleotide therapy to treat SMA. Cure SMA also contributes to research.

Genetic diseases, including SMA, comprise an overwhelming majority of rare diseases (80%). Not all rare diseases can currently be diagnosed via genetic testing, but SMA can be. This is extremely important, because understanding the genetic biology of a rare disease is one of the first steps to developing treatments.

Lucky to Have a Treatment

Every rare disease community wants effective treatments, and ultimately a cure. However, only about five percent of rare diseases have an FDA-approved treatment, and SMA is not one.

However, there are several promising clinical trials taking place among pharmaceutical manufacturers right now. PTC is conducting a trial of an orally deliverable small molecule to increase SMN production. ISIS is conducting a trial of an intrathecal ASO to increase production of SMN. Trophos completed its trial of olesoxime, an orally deliverable neuroprotective treatment. The study’s two-year results showed olesoxime prevented loss of function in SMA patients during treatment.

Trophos is in the process of obtaining approval for olesoxime in the E.U. and U.S. AveXis’ gene therapy trial is ongoing. To say these treatments are exciting to the SMA community is an understatement. When Hunter was diagnosed, doctors told us there were no SMA treatments. This is no longer true. Still, there are no FDA-approved treatments. With these treatments, I am extremely hopeful that SMA will be a managed disease within a few years. I also know the perseverance of the SMA community, and I know we won’t stop until we have a cure.

Lucky to Be Alive

Hunter may have drawn the short straw in his rare disease diagnosis, but I do feel lucky that he was diagnosed with SMA. We have support organizations, research organizations, a genetic test for diagnosis, and promising treatments on the horizon.

Rare disease facts and statistics courtesy of Global Genes’ RARE Diseases: Facts and Statistics page.


Do You Love Someone Rare?

One in ten Americans has a Rare disease.  Odds are you love someone who is Rare.  I love someone who is Rare.  Our three-year-old son Hunter Davis was diagnosed with SMA Type 1 at eight weeks of age.  SMA is the second most common Rare disease, and it is the leading genetic cause of death for babies and toddlers under the age of two.  I also love a couple other Rare individuals.  Our family member Jenny Davis was diagnosed with Parkinson’s Disease in 2007.  My dear friend Christie Jo Klump has Multiple Sclerosis.

Click to order your tee

Click to order your tee

Global Genes and the Gwendolyn Strong Foundation have partnered once again to offer the “I love someone RARE & beautiful” tee to support those with Rare diseases, and celebrate Rare Disease Day.  The tee is a tribute to those with Rare diseases, and 100% of the proceeds go to Global Genes and the Gwendolyn Strong Foundation to further their efforts in supporting the Rare disease cause.  Join the effort in supporting those with Rare diseases, and order your limited edition tee by clicking the above picture.

I purchased an “I love someone RARE & beautiful” tee from the Gwendolyn Strong Foundation to celebrate Rare Disease Day, and help support the Rare disease cause.  For a chance to win the tee, comment that you love someone rare, together with their name, and their Rare disease.  On March 3rd, a winner will be selected from the comments.  The winner can proudly wear the tee throughout the end of March.  Global Genes has declared February 28th through March 31st as Rare Disease Month, “Because Rare Disease deserves more than just a day!”

Do you ever stop to think about the value in things that are rare?  Rare baseball cards have sold for over a million dollars.  Rare comic books sell for hundreds of thousands of dollars.  Rare gemstones can sell for millions of dollars.  Rare collectors search for rare stamps, coins and books to complete their collections.  What is the value of a life for someone with a Rare disease?  I don’t think there’s any doubt that each and every Rare life is priceless.

Rare diseases are often misconceived as rare in their entirety.  However, with one in ten American’s afflicted with a Rare disease, this is not true.  While individual Rare diseases are rare, cumulatively they are very common.  There are approximately 30 million individuals with Rare diseases in the United States alone.  Sadly, nearly half of those affected by Rare diseases are children.  I invite you to join in and help those with Rare diseases.  Spread awareness, raise funds for research, or advocate for those with Rare diseases, and you will make a difference for the someone Rare you love.