"There are millions of children with rare diseases who have absolutely no where to turn for information or funding for therapies that are crucial for their development. The Children's Rare Disease Network is a magnet and a long awaited home for these kids and their families. We don't have to feel so alone, The Children's Rare Disease Network is on our side."
Kris Howsen, Moorea's mom, Williams Syndrome
Derek Seymour, Age 10, Joubert Syndrome
FOUNDERS MESSAGE
Ten years ago, my friend Kelly gave birth to her first child Derek. He was born with extra digits on his hands and feet, a hooked arm and club foot, clenched fists, contractures in his fingers, nystagmus which affects the eyes, and severe low tone muscle. In his first 4 months, physicians thought he was blind, and because of his low tone muscle (hypotonia), he couldn’t breast feed, digest food or cough up phlegm, leading to several bouts of bronchitis and pneumonia. He lived most of the first two and a half years of his life having his family and physicians working to find a diagnosis. This took both a physical and emotional toll on Kelly and her husband Darryl. Derek was finally diagnosed by chance, and not from his physician, but from his physical therapist. Derek’s doctors later confirmed that he suffered from Joubert Syndrome, a rare genetic disorder. Because of this syndrome, Derek was also missing the cerebellar vermis, the portion of his brain responsible for balance and coordination. Doctors informed Derek’s parents that he would never be able to walk, run or talk, in addition to all of the other challenges that this child would face in his lifetime.
I experienced first hand Kelly and Darryl’s feelings of helplessness, isolation, stress, frustration and anger. This experience served as the catalyst for The Children's Rare Disease Network.
There are more than 6,000 identified rare diseases and more than 25 million people in the United States that are afflicted with rare diseases. Though by definition a rare disease afflicts less than 200,000 people, nearly one in ten people in this country alone suffer from a rare disease. In fact, there is nothing rare about rare diseases. The individual medical problems patients with each of these diseases will suffer vary, however families with children that suffer from a rare disease all experience many of the same challenges. These include finding a doctor who understands their child’s illness, affording medical care, keeping abreast of scientific developments, finding resources that can assist them and coping with social issues.
There is a lot of work to be done and The Children's Rare Disease Network team intends to lead the charge. Rare disease needs a voice, a champion that will tell the world that we can no longer look past these families – and their children – our friends, relatives and neighbors and ignore their needs. There has been little attention paid towards rare diseases as a whole because the families affected by them are focused on their individual issues. As a result the efforts today are segmented. We intend to change that. We believe that by creating greater awareness, educating people about the issues and connecting patients, families, doctors, researchers and charities to one another, we will make a significant difference in the lives of millions of people.
We know this is a winning model. We have seen this work effectively around such diseases as AIDS and breast cancer. Greater awareness leads to greater understanding. With greater understanding comes greater funding for research. And that eventually leads to new therapies, improved lives and hopefully cures. It is really that simple and easily accomplished.
After having met many parents who have children with rare diseases I have come to understand that they are our world’s true superheroes. These parents have given up their careers, their ambitions and their lifestyles to devote themselves to helping their children. Their strength of character, bravery, compassion and sheer will, have made a profound impact on all of us at The Children's Rare Disease Network. Their hope that we will achieve our goals drives us every day.
We urge you to join our cause and recognize the importance of our efforts by supporting us in any way you can through your time, talents, contacts and financial support. Mahatma Ghandi once said “You must be the change you wish to see in the world.” We hope you feel the urgency of this and recognize the difference you can make with your assistance.
Thank you,
Nicole Boice - Founder/President
