Five Questions with Stephanie Bozarth, National MPS Society

Annabelle Bozarth

Our latest “Five Questions with…” interview features Stephanie Bozarth, an LH/HG resident and mother of Annabelle Bozarth. On June 5, 2011, family, friends, and neighbors will gather with the Bozarths for a “Mad Hatter” Tea Party (details here and here) to raise funds for research on Morquio syndrome, a disease Annabelle was diagnosed with at six months of age.

We thought readers would like to know more about Annabelle and about Stephanie’s work with the National MPS Society, a research organization for Morquio syndrome and related diseases.

The “Mad Hatter” tea party fundraiser is coming up in a few weeks. How much money are you hoping to raise and where will the funds be directed?

Over the past four years we have raised about $100,000 towards Morquio syndrome (a.k.a. MPS IV or mucopolysaccharidosis IV) research. This year we hope to reach $40,000 in donations through donor sponsorship directly to research, Mad Hatter tickets sales to the party, and silent auction bids. One hundred percent of proceeds from this event go directly toward Morquio syndrome research.

As many know, fundraising money can be lost in administrative cost. The National MPS Society tracks and guarantees that every dollar raised is used for Morquio syndrome research through a scientific granting process. I am extremely proud of the National MPS Society fundraising management process and how they provide grants to worthy MPS researchers. As a fundraiser, it is so important to be transparent and accountable to all our donors. To track grant and research progress, go to www.mpssociety.org.

Annabelle has faced many medical challenges over the past year. Can you tell us a bit about how she’s doing now?

Annabelle has been recovering from her most recent surgery on April 26 to remove hip and knee plates. She is slowly getting back on her feet and healing quickly. This surgery was quite minor compared to previous surgeries; however, having your child go through any surgery is never stress-free. In the summer of 2010, Annabelle had a hip reconstruction surgery and bilateral knee plates surgically implanted. Those were the hardware plates we just had removed. Due to the damage of Morquio syndrome, her hips had basically disintegrated and her legs were becoming very knock-kneed. Both of these bone conditions cause a lot of pain with walking so it is necessary to surgically improve the condition.

Fortunately, we have a world renowned orthopedic surgeon, Dr. Mackenzie, who follows her care closely and is capable of performing these very complex and intricate surgeries on children with bones like Annabelle’s. After her hip reconstruction, Annabelle was in a full-body cast for six months. Once the cast was removed, she went through intensive land and water physical therapy for several more months to learn how to walk again. For a child of only four young years, she has endured so much with courage and strong heart.

What is the current state of the research on Morquio syndrome and other MPS diseases? Are there any particular lines of inquiry that you are watching?

We are on the horizon of many possible research breakthroughs for MPS IV treatments, one of which is the first phases of a clinical trial of enzyme replacement therapy for MPS IV that BioMarin Pharmaceutical Inc. has conducted in the United Kingdom, with promising results. The next step is for phase three of the trial to be held in the United States with Food and Drug Administration (FDA) approval. [Editor’s note: See BioMarin’s website for a short feature about Annabelle.] Enzyme replacement therapy is a proven treatment for other MPS syndromes similar to MPS IV. Enzyme replacement therapy is not a cure and will not completely stop the progression of the disease; however, it should slow the progression. MPS affects every cell of the body, including bone.

There are other research efforts slowly moving forward in gene therapy, substrate reduction therapy, and many other areas that will also complement the treatment of enzyme replacement therapy. We are so grateful that research is moving forward and we may actually have access to a treatment soon.

When a disease is as rare as MPS, it gets very little attention. It is up to grassroots fundraising to move research forward so scientific breakthroughs are possible.

You’ve become involved with the National MPS Society as a member of the board of directors. What kind of work are you doing in that role?

As a National MPS Society board member, I have been able to expand my personal contribution to the MPS community. My role has many hats! Every month I write thank-you notes to donors and condolence notes to families who have lost their loved ones to MPS, make multiple conference calls to manage the legislative and fundraising activities of the society, raise money for the society, educate the community, and provide support to newly diagnosed families, to name just a few of my roles. This volunteer job has been one of the most meaningful things I have ever done (besides being a mom and wife!). I even had the opportunity to testify to FDA Commissioner Margaret Hamburg about MPS and how my family and child are affected.

May 15 is International MPS Awareness Day. In conjunction with that day, I am joining several of the National MPS board members for a legislative visit to Capitol Hill. From May 16 to 18, we will be meeting with various senators and legislative leaders to educate about MPS and how it affects families. Working with Congress for over ten years, the National MPS Society has been successful in having mucopolysaccharidoses included in the Labor–Health and Human Services appropriations language. The House and Senate both recognize May 15 as National MPS Awareness Day. We work with several parts of the National Institutes of Health that fund research looking for treatments and cures. We also work with the Department of Education to improve special education, and with the Social Security Administration, which now recognizes MPS in its compassionate allowances program.

If neighbors aren’t able to make it to the tea party but want to make a contribution, what’s the best way for them to do so?

We welcome all donations in any amount to the National MPS Society. The best way to make a contribution is by visiting www.mpssociety.org and clicking the “donate now” button, which will walk you through the online donation process. We would appreciate all donations to be made in honor of Annabelle for MPS IV and with a note added to say that your donation is made in conjunction with the Mad Hatter Tea. (These are all drop-down menus and text boxes that are available through the process.)

A second way to donate is by writing a check to National MPS Society and dropping it in my mailbox at 6203 Larstan Drive. I am happy to quickly mail checks to the National MPS Society and it gives me an opportunity to thank you for your donation.

We love to know who has donated and it is so important for us to thank you in person or by letter.