Friday, August 29, 2014

Stanford Medical Students Learn About Myotonic Dystrophy First Hand

Left to right: Jane Hull Harvey, Lisa Harvey, Kayla Vittek (front), Dr. John W. Day and Dr. Gilbert Chu

Kayla, my mom Jane and I traveled to Stanford Medical School this morning to meet with the first year medical students for a class in nucleotide repeat diseases. Myotonic dystrophy is a nucleotide repeat disease so we were able to share our story and help these young students to understand how this disorder impacts a family medically, socially, educationally, and financially to name a few. We had lots of great questions from the students and the feedback after was very positive. It is so healing to know we are making a difference in these future doctor's lives when it comes to diagnosing and caring for patients with this disorder. I'm feeling very grateful for the opportunity.

Wednesday, June 11, 2014


PALO ALTO, Calif. (KGO) -- For 9-year-old Kayla, a recent ride on a surfboard at a special program in Santa Cruz, was something of a miracle. Born with a neuromuscular condition called Myotonic Dystrophy, Kayla has struggled just to walk and develop normal muscle function. Her mom, Lisa Harvey says the fight began just moments after her birth.

"You know, they actually said you can choose to pull life support and I was devastated. And I said, 'We don't even know what this is, let's fight and see what we're dealing with first,'" Harvey remembers.

Kayla's progress is being tracked at a unique clinic at Stanford Hospital. It's set up to study and treat congenital diseases that may stretch back generations. In Kayla's case it's at least three generations, including her mom and grandma, Jane Harvey. Clinic director Dr. John Day says treating the family together allows researchers to better gauge the effectiveness of new therapies.

"If everybody is receiving a different treatment, then when we start to introduce a new treatment modality, it's not going to be clear if it's working," says Day.

Read more and watch the video

Monday, June 9, 2014

Clinical Trials for Myotonic Dystrophy Have Begun

ISIS Pharmaceuticals is developing a drug (ISIS-DMPKRx) to treat Myontonic Dystrophy Type 1 (DM1, also called Steinert’s Diseases). DM1 is a dominantly inherited, degenerative disorder that affects many systems in the body. DM1 is mainly characterized by progressive muscle wasting, weakness, and myotonia, but additional clinical features include early cataracts, cardiac conduction dysfunctions, hypersomnia, gastrointestinal abnormalities, insulin insensitivity, and infertility. DM1 is estimated to affect 1 in 8,000 people worldwide, or approximately 150,000 patients in the US, Europe and Japan. Currently, there are no disease-modifying therapies for patients with DM1 and treatments are intended only to manage symptoms. ISIS-DMPKRx is an antisense drug being developed for the potential treatment of DM1. ISIS-DMPKRx is currently being studied in a Phase 1 study in healthy volunteers to evaluate its safety. 

Learn more: print the trial fact sheet

Friday, February 28, 2014

Kayla Takes On Capitol Hill

On February 25th, Kayla and I traveled to Washington DC to testify at a Congressional Hearing to support the passage of the reauthorization of the MD-CARE Act. It was a life changing event and Kayla did a remarkable job reading her speech. There were hundreds of people attending and she wasn't intimidated at all. I'm so incredibly proud of her.

Lisa Harvey and her daughter, Kayla Vittek, both of whom have myotonic dystrophy, testified at the hearing. Harvey said that the MD-CARE Act "has already saved lives, and with this needed reauthorization, it has the potential to save millions of lives in the future."

MD-CARE Act Congressional Briefing Accelerates Reauthorization Momentum

"The energy in the room was high, and the mood was optimistic," said Annie Kennedy, MDA's senior vice president of advocacy, speaking about the Congressional briefing on reauthorization of the MD-CARE Act that she attended and helped to organize. The briefing was co-hosted by MDA and other muscular dystrophy organizations in Washington, D.C., on Feb. 25, 2014, and was attended by some 250 people — Senate and House staffers, researchers, advocates and members of the muscular dystrophy community.
Kennedy emphasized that the legislation is an example of a highly successful partnership between public and private entities.

"We're cautiously optimistic that reauthorization of this landmark legislation is possible," Kennedy said, adding that it's imperative to keep the momentum going by encouraging legislators to sign on to reauthorization of the Paul D. Wellstone Muscular Dystrophy Community Assistance Research and Education Act Amendments (MD-CARE Act) of 2014 (H.R. 594/S. 315).

"The MD-CARE Act has leveraged significant breakthroughs in many of the nine muscular dystrophies," Kennedy said, "including research discoveries, therapeutic advances and quality-of-life improvements for those living with muscular dystrophy."

The Feb. 25 congressional briefing highlighted three major MD forms — Duchenne muscular dystrophy (DMD)myotonic muscular dystrophy (MMD, or DM), and facioscapulohumeral muscular dystrophy (FSHD), with testimony by patients, parents, experts in the field, and representatives of advocacy organizations, including MDA CEO Steven M. Derks.

In addition to MDA, Parent Project Muscular Dystrophy (PPMD) and the Federation to Eradicate Duchenne (FED) helped organize the briefing.

Among the presenters were California residents Lisa Harvey and her daughter, Kayla Vittek, both of whom have MMD. Kayla was born with the severe congenital form of the disease and required a ventilator to breathe when she was born. At age 4, she was using American Sign Language to communicate. Today, she's in third grade, is able to speak and read her own testimony at the briefing.

"Today, families living with this disease have a real reason to have hope, as later this year the first clinical trials will begin for myotonic dystrophy," Harvey said in her testimony. "This hope sustains us all and motivates us to do all we can for our families. I speak for the entire community of families struggling with muscular dystrophy when I say that the MD-CARE Act has already saved lives, and with this needed reauthorization, it has the potential to save millions of lives in the future."...Read more