“By changing policy, we can change lives”

A powerful opening statement by Angela Ramirez Holmes, Founder & President of the California Action Link for Rare Diseases (CAL RARE).

Tuesday of last week, patient advocates, patient advocacy organizations, and members of the public filled a room at the California Capitol for an informational hearing on research related to rare diseases. One of the organizations present was CAL RARE, a non-profit organization that is dedicated to improving the lives of California patients with rare diseases. Angela’s opening statement reflects CAL RARE’s core mission of bringing awareness of rare diseases to the general public and decision makers in order to improve access to physicians, treatments, and social services.

One of the first presenters was Dr. Martin Cadeiras from the Department of Cardiovascular Medicine at UC Davis. His presentation focused on a rare disease named amyloidosis, which occurs when a protein called amyloid builds up in the body’s organs and tissues. This can lead to problems in the heart, skin, kidneys, liver, and digestive tract. There are several different types of amyloidosis, one of which is hereditary and another form that can occur after chronic infection. Dr. Cadeiras spoke in detail about the scientific complexities behind amyloidosis and shared images of patients affected with the disease as well as the complications associated with their condition.

To elaborate more on the patient perspective of this disease, patient advocate Len Strickland shared his journey living with amyloidosis. In addition to living with the disease, Len also has the sickle cell trait, meaning he has one copy of the sickle cell disease gene but one normal copy.

In his early life, Len was a typical young adult with no health problems. Unfortunately for him that changed in 2006, when he started having problems with shortness of breath and heart palpitations almost overnight. He visited many doctors, all of which were perplexed by his condition and were unable to diagnose him.

“My normal life was gone, and I was very concerned.” said Strickland.

One year later, after multiple tests and specialists, he was finally diagnosed with the hereditary version of amyloidosis. As a result of his condition, he was in dire need of a heart transplant. On March 4, 2008 he was placed on the transplant list. Because he was relatively lower on the priority list, he was told to keep hope to a minimum. Fortunately, on June 10, 2008 a matching donor heart was found and by the next day, Len had successfully received the heart transplant.

Len wrote a thank you letter to the mother of the deceased donor and regularly keeps in touch with her. She hopes to one day meet Len in person so that she can hug Len and hear her son’s heartbeat.

Although the amyloid deposits have spread to Len’s hand and feet, he is still able to live his life.

Len ended his speech by telling the crowd,

“Make the best of the time you have, if I can do it, so can you.”

The challenges Len faced with getting a proper diagnosis brought up the need for technology that can better screen rare diseases. The next presenter, Dr. Lauge Farnaes of Rady Children’s Institute for Genomic Medicine, discussed a project that focused on just that. Under a two million dollar Medi-Cal program titled Project Baby Bear, Dr. Farnaes and his team have used genome sequencing as a diagnostic test for critically ill newborns. The ultimate goal is to get this screening as a Medi-Cal covered benefit.

Comprehensive early testing enables physicians to make early decisions about and minimize the damage accumulated before diagnosis. “We have a chance to go in early on and make a difference in the life of patients.” said Farnaes.

Dr. Farnaes told stories of some of the children enrolled in the screening program. One was a young girl that had problems related to the heart. She was enrolled February 6th and diagnosed two days later with Timothy Syndrome, making her one of the youngest patients ever diagnosed. She was implanted with a defibrillator to help with her heart problems. Dr. Farnaes had stated that without the screening, she would have likely just been prescribed beta blockers, which would only have worsened her condition.

Another child enrolled in the program had difficulty breathing as a result of bone fractures. Because of the bone fractures, it was thought that the child had undergone abuse at the hands of the parents. However, thanks to the screening technology, it was found to be the result of a genetic condition. Dr. Farnaes talked about how this technology vindicated the parents, who were already going through the difficult process of having a sick child without throwing other problems into the mix.

To date, 116 children have been diagnosed with genetic conditions early on using this technology and the number is expected to eventually approach 150.

Last, but not least, Assemblymember Mike Gipson shared an update on the work that the rare disease caucus has made with relation to sickle cell disease. He mentioned how the legislative black caucus had successfully advocated for allocating $15 million for sickle cell disease. This money will be used to open seven new sickle cell centers across California.

The meeting in the California Capitol highlighted the impact that patient stories have on policy, as well as the ongoing need of funding and new technologies to address the disparities in rare disease.