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Mar. 20, 2020

TOPIC: Featured News, Head of the Herd, Patient Stories, Patients & Members

Head of the Herd: Michele Sloan, Foundation to Fight H-abc

Posted by Laura Mullen

Head of the Herd: Michele Sloan, Foundation to Fight H-abc

At the head of the herd is… Michele Sloan, Director, Foundation to Fight H-abc

Michele most frequently checks her… Facebook page

Michele advocates for those living with… Hypomyelination with atrophy of basal ganglia and cerebellum (H-abc), a disease caused by a spontaneous defect of the TUBB4A gene mutation.  This gene provides instructions for making a protein called beta-tubulin which, along with another protein, form structures called microtubules which form the framework of cells.

Michele is located in… Rockville, MD

How Michele got here… My husband and I started the Foundation to Fight H-abc in 2015, shortly after our daughter, Elouise, was diagnosed. Knowing that there are other children and families out there experiencing the same unknowns and that there is currently no known cure is what drove us to action. Born in 2005, Elouise initially showed no symptoms of any neurological disorders. She began walking, running, and playing just like any other happy, healthy child her age. Then, at around age 3, she started to pull up her right arm when running. An MRI showed delayed myelination and an undersized cerebellum, which began an endless journey of test after test. Eventually, Elouise was diagnosed with H-abc, a rare genetic disorder with no known cure—a parent’s worst nightmare. Over the years, Elouise’s condition has continued to worsen. She can no longer stand, bathe, eat, or get dressed without help and has lost her ability to walk. Her inability to speak clearly also impairs her communication. Further, a condition called dystonia causes uncontrolled muscle movement in her arms and neck, which—as you can imagine—is extremely painful.

As there is currently no cure for H-abc, doctors can only treat the symptoms, not the cause. Along with muscle relaxants, Elouise receives quarterly Botox injections to help calm her muscles; however, this treatment is becoming less effective over time. She underwent surgery for partial hip subluxation and spinal fusion due to the force this disease exerts on her muscles. More recently, she had a feeding tube implanted in her stomach as the disease affects muscle tone, which in turn affects eating and choking.

What’s working now…  Many people have no idea what H-abc is, not even most doctors. We realize we cannot gain momentum and help children and their families affected by this disease, unless we educate the public and the medical community. We have made a concerted effort to try to get the word out to be a resource for affected families and also to inform potentially interested parties about this disease. Funded partially via advertising grants, we have employed a digital marketing firm to use virtual digital technology on social media platforms to inform and educate people and affected families about H-ABC. Although this is not necessarily a forum for fundraising, it’s the only way to spread the details on this disease and get the attention it deserves, given the limited number of identified children of only 150. As a result, along with our advocacy efforts, we hope to gain momentum in the industry and be recognized, and with luck and a lot of hard work, attract industry participants and advocates who would embrace our effort and help us raise the recognition this disease deserves.

We have also assisted in the funding of a natural history study at Children’s Hospital of Philadelphia, whereby identified patients can join, provide key data on their child on an ongoing basis, and visit and consult with the hospital for critical clinical information. Also, via assisting the funding of family conferences, families from across the world have been able to come to the U.S. and meet with the clinical team and obtain valuable and ongoing guidance on how to help their child, because many doctors have no idea what the disease is or how to treat it. Our foundation has been a key go-to source of information to help establish connections in support of affected families via various social media and other support groups.

What’s happening in 2020…  Since this disease is so rare, we are partnering with other leukodystrophy advocates with the hope of gaining efficiencies that can benefit each of us as we venture down the path of gene therapy and clinical trials for a cure. There are many responsibilities that advocacy groups have to think of and, in some instances, take the lead on. Without being educated in these requirements, it is very difficult to navigate the who, when, how and why, as well as identify potential issues that might cause delays along the way. We are also ramping up our international efforts to bring affected families together to join efforts in advocating and fundraising within and outside of the US. Since many families are outside of the US, advocacy and funding sources vary greatly from one country to the other.

The next five years…  Our objective is to get into clinical trials for a cure for H-abc. We can only do this by gaining momentum on awareness, ramping up our advocacy support and fundraising to fund this work while simultaneously ensuring existing and newly identified families are provided access to clinician resources and the H-abc network to provide key data on the disease. 

Tips for running your organization…  Don’t give up. There is a ton of information to be gained, and connecting with others in the rare disease space is critical to understanding the gene therapy process, supporting the families and collaborating with other advocates in the leukodystrophy space. However, this cannot be done alone or in a silo, so gaining the support and participation of the families, and others in the rare disease space, is critical to gaining momentum on awareness, recognition and being informed.

How Michele remains hopeful…  Faith! Living day by day, always waiting for good news and making headway, and more than anything, maintaining a positive attitude for her family and for other families affected by this disease. Hoping others more fortunate than us will continue to come forward and offer their help and support.

Michele’s lessons for other leaders…  It takes a ton of time and work reaching out to thousands, but a handful of connections with the right people make a huge difference. The kindness and support from people, often strangers, are truly inspirational.

Don’t try and do this alone, connect and network with others.

Know who the key players are in this space, do not depend or rely on one source to get to the finish line and ensure you drive for the results for the children. Try to work through the bureaucracy that can slow the process down — the kids come first.

Ensure to surround yourself with knowledgeable people to help navigate and guide you through your journey. Learn from others’ mistakes, they are invaluable!

Michele’s most recently used NORD service…  Using the resources provided on the administrative side and good counsel and advice provided by others has been very helpful.

If Michele found a cure and had to find another job, she would…  Volunteer to help other rare disease advocacy groups. Knowledge is power and for those new to this space, it is overwhelming.

Michele wants you to read…  The Bible

Michele would rather be…  Freely running, dancing, and talking with my daughter, all things we cannot do together anymore…