Amy Malin, Fitperez correspondent, sat down and spoke with Kristal Abner, the mother of Katelynn, who has a very rare disease called Metachromatic Leukodystrophy (MLD), for an exclusive interview.
Amy: Tell us about Katelynn's diagnosis. How did you find out she had MLD.
Kristal: Katelynn just turned 4 years old on Halloween. She was diagnosed just before her 2nd birthday with Metachromatic Leukodystrophy (MLD). Katelynn was born and we were told was a happy healthy baby girl. She thrived and hit all milestones. She spoke 3-4 word sentences by 14 months. She was considered ahead cognitively. She did however show some issues with her walking. Katelynn climbed on everything, could go upstairs etc.
She didn't however want to let go of a persons finger or furniture. So I started taking her in to the doctor. They said she was fine and that she just was a late walker. Finally by 18 months the doctor sent her to physical therapy.
She ended up excelling and was walking on her own up to 60 steps unassisted. Then at 21 months old she started losing the ability to walk again. She lost about ten steps each week and then was needing to use a walker within 4 weeks time. She started undergoing testing at that point. She had an MRI first at the end of August 2010 which came back showing the signs of a Leukodystrophy. The doctors then sent off urine and blood work to discover the type MLD and on September 9, 2010 were told what Katelynn had.
Amy: Tell us about Katelynn's rare disease and how it affects her.
Kristal: MLD is a terminal neurological disease. It simple terms she is missing an enzyme which breaks down proteins. These proteins then build and destroy the wire coating of the brain (myelin sheath) and as this happens Katelynn can't get messages to parts of her body like her arms and legs for example which affects her motor skills. It will continue to destruct and cause more seizures, lung weakness and her heart will get weak. Katelynn lost her abilities all in an 8 week period. She had a G tube & Nissen surgery and has continued to be hospitalized for things like seizures, urinary tract infections and lung infections. Katelynn takes 10 medications daily three times a day for things like pain, muscle spasms, anxiety, seizures, urinary tract infections and thyroid problems.
Amy: How has this rare disease impacted your family's life?
Kristal: Katelynn's illness has affected her and our family greatly. She can no longer walk, talk, eat, smile and play with her toys. Our family dealt with the loss of the little girl Katelynn was and not know what was happening as it was happening to her. Katelynn has a five year old brother that has to learn what is going on and know that his sister is sick and won't be with us for much longer. It takes a lot to care for Katelynn between all of her medicines, catheters, doctors appointments, etc., so that has an impact on the whole family.
Amy: Why should people care about rare diseases?
Kristal: People should know that although each rare disease is in fact rare, that if you add up all of the people affected by rare diseases, this cause touches so many lives around the world. I know a lot of people affected by different rare diseases. It could happen to any of us. We need to learn about these rare diseases and fight for research and spread awareness to help all of the families affected by these rare diseases.
Amy: How can people help?
Kristal: Everybody can help by sharing Katelynn's story and by giving a voice to the millions of children affected by rare diseases around the world. There are so many misconceptions that come with our family's story. I hear on a regular basis that my daughter is too beautiful to be dying from a terrible disease or to be handicapped. Disease affects everyone and doesn't discriminate based on race, religion, sex, wealth or where you live. This could happen to anyone. We hope that you will be inspired by our daughter's story and that you will show that you care by sharing Katelynn's story on Facebook and Twitter and with everyone you know so that one day rare diseases like the one that Katelynn is battling will get the attention it deserves and we can work together to find a cure for my daughter and all of the beautiful children with rare diseases.
A few years ago, Amy Malin of Trueheart Events became aware of a major healthcare issue that affects 30 million Americans (10% of U.S. population, 50% of which are children) and 350 million people worldwide. That’s more than all cancers and AIDS combined. The healthcare issue is “rare disease." There are over 7,000 different types of rare diseases. Fewer than 5 percent of rare diseases have a single approved drug treatment, leaving tens of millions of people without hope.