We would like to honor children with a rare disease for this month like our son Nicholas who has batten disease (LINCL).
The statistics around rare disease are astonishing. 1 in 10 Americans is affected by some type of a rare disease. That’s a huge number of people – 30 million in the U.S. according to the NIH (and over 350 million worldwide.) Did you know that there are 7,000 different types of rare diseases? The amount of drug approvals for the entire rare disease community each year is extremely low – potentially only 5 or so drugs a year out of a 21 total drugs the FDA approves. To date, only 5% of rare diseases have a treatment! For 95% of rare diseases, there is not a single approved treatment. Batten disease is one of those 95%!
For more information about Rare Disease. Please Click here for the RARE DISEASE WEB SITE
Epidermolysis Bullosa (EB) Click here for the natinoal web site
EB is a group of diseases characterized by blister formation after minor trauma to the skin. This family of disorders, most of which are inherited, range in severity from mild to the severely disabling and life-threatening diseases of the skin. This rare genetic disorder affects all ethnic and racial groups. Estimates indicate that as many as 100,000 Americans suffer from some form of EB.
Try to imagine a person with painful wounds similar to burns covering most of his or her body. Unlike burns these wounds never go away. For children, riding a bike, skating, or participating in sports is difficult because normal activities of children causes chronic sores. Wounds may cover up to 75 percent of the body. Imagine a diet of only liquids or soft foods because blistering and scarring occur in the mouth and esophagus. Scarring also causes the fingers and toes to fuse, leaving deformities which severely limit function. Imagine a life tied to hospitals for wound treatment, blood transfusions, biopsies and surgeries. The eyes often blister preventing sight for days. Chronic anemia reduces energy and growth is retarded. There is little hope for life beyond 30 years. Children with EB are often referred to as Butterfly Children because their skin is as fragile as a butterfly’s wings.
Watch this Video: The Boy behind the bandages
Aleternating Hemiplegia of childhood (AHC) Click here for the Web site
Imagine your child
· Was CRIPPLED by a mysterious disorder that left him paralyzed for minutes, hours, even days at a time…the mental anguish of hearing your child say “bye-bye arm”, the physical injury you endure carrying him when he goes limp suddenly.
· Was ROBBED of his or her childhood and future. Instead of soccer, baseball, and karate, your child goes to OT, PT, Speech, and numerous doctor visits. Imagine hearing your child will at best barely attain an 8th grade level education. Instead of planning for college & helping him shape a career, you’ll be planning for his care & doing your best to teach him basic life skills.
· Is IMPRISONED FOR LIFE trapped in a body that won’t work right, and a mind that won’t let him flourish, all because of a disease. How would you feel knowing your child will be forced sooner or later to live in group homes or institutions?
I don’t have to imagine. I am Matthew’s father. Matthew suffers from a rare disease called Alternating Hemiplegia of Childhood (AHC). He was born with complications & spent the first 10 days of his life in the NICU of Rex Hospital in Raleigh, NC where we live. The doctors originally thought he had epilepsy. This is one of the challenges with AHC. As there is not known root cause YET (thought researchers are VERY close), the symptoms of AHC can look like other diseases, like epilepsy or cerebral palsy. While there are only approximately 700 cases identified in the world, there are likely thousands undiagnosed (based on 1 in a million current ratio extrapolated to world population yielding 7000, not 700)
To make matters worse, about 50% of AHC sufferers do have true epilepsy. Matthew is one of these. In fact we almost lost him in February, 2009 to an epileptic seizure. After that I made the decision to do whatever I could to get some answers for this extremely rare, debilitating neurological disorder. I became President of the AHC Foundation in August, 2010. The AHC Foundation is funding breakthroughs in the quest to treat & cure this devastating disorder, but funds have run out!
This Rare Disease Day, we are launching a campaign to change that!. This video will show
Watch this 3 minute video. CLICK HERE!
National Ataxia Foundation Click here
Web site on Friedreich Ataxia Click here
What is Friedreich’s Ataxia?
Friedreich’s ataxia (FA) is a debilitating, life-shortening, degenerative neuro-muscular disorder. About one in 50,000 people in the United States have Friedreich’s ataxia. Onset of symptoms can vary from childhood to adulthood. Childhood onset of FA is usually between the ages of 5 and 15 and tends to be associated with a more rapid progression. Late onset FA (LOFA) can occur anytime during adulthood. FARA is supporting research that will improve the quality and length of life for those diagnosed with Friedreich’s ataxia and will lead to treatments that eliminate its symptoms.
Alena and Alisa
Alena is in fifth grade and is the oldest of three children. Her pets include two dogs and three gerbils, whom she loves very much. Alena plays the violin, is excellent at spelling, enjoys reading, loves horses, and hopes to be an artist, singer, songwriter, violinist, movie director AND author when she grows up! She is very talented, writing songs in her head and always coming up with new ideas for stories.
Two years ago, she was also diagnosed with Friedreich’s Ataxia. Her condition first became noticeable when she was only 5 years old. We noticed that she had trouble learning how to tie her shoes, button her jeans, roller skate, ride a bike and jump rope. Then we began to notice that she was very clumsy when walking and would trip and fall in odd ways. It wasn’t until she was 9 years old that we discovered that the worsening in her balance and coordination was caused by Friedreich’s Ataxia.
FA makes it difficult for her to write in school and she uses a laptop computer in class; she also is no longer able to participate in P.E. Having FA means that riding a bike or rollerblading is not possible and she becomes tired very easily. Alena uses a wheelchair when we go to events where there are big crowds or when there will be a lot of walking. Having FA also means that she spends a lot of time at doctors’ appointments to monitor her heart and spine. So far, the supplements that she has been taking have helped to keep her heart healthy, but there is nothing we can do to stop the progression of her ataxia or to stop aggressive curvature in her spine.
Last year, Alena received a Disney Cruise from Make-a-Wish. She wanted something that the whole family could do together, so the cruise was perfect. We were picked up in a limo and got VIP treatment at the airport. Alena got her hair braided in the Bahamas, met Mickey Mouse and all the Disney Princesses, swam in the ocean, saw musicals, saw fireworks at sea during the Pirates in the Caribbean deck party, hung out with other kids the Oceaneer’s Lab and even graduated from D-Sea-U (Disney Sea University)! It was truly the trip of a lifetime. Alena’s younger brother, Adam, said his favorite part was the food and swimming (in that order)!
Recently Alena has developed problems swallowing, and needs to use a thickener in her beverages. Her scoliosis has also progressed significantly over a short period of time; so, the time has come for Alena to undergo spinal fusion surgery to correct her curvature. Our plan is to have the surgery done after school gets out for the summer, right after MDA camp.
Alisa is Alena’s younger sister. She loves school and loves reading. She loves to play with her baby-dolls, Barbies, Polly Pockets and Groovy Girls. She also loves art and will spend hours drawing, coloring, painting, cutting and gluing anything she can get her hands on. But mostly she wants to do whatever her big sister Alena or big brother Adam are doing. Alisa may be smaller than most kids her own age, but she makes up for her small size with her love of life. She has a lot to say and loves to sing and laugh.
When Alisa was in kindergarten we felt the same familiar pang in our hearts. One of Alisa’s teachers commented on how Alisa would suddenly fall down while the class was walking in line and how she would lose her balance while standing still in P.E. class. Shortly before Alisa’s 6th birthday, she was diagnosed with Friedreich’s Ataxia. Being only six years old, Alisa had mixed feelings about her diagnosis. She already had an idea of what it was after seeing her sister deal with it every day, so she already knew that basics. Her first reaction was excitement, proclaiming, “Yes! Now I can get a Wish too!” Followed later by a more profound realization when she said, “I don’t want to be like Alena.”
Upon receiving the diagnosis, Alisa was evaluated by a cardiologist who found that Alisa has moderate cardiomyopathy. We were not totally surprised by this since Alisa has complained of chest pains from time to time. Alisa’s ataxia symptoms are still very mild, but we know they will get worse until a treatment is found.
WILLIAM’S SYNDROME CLIICK HERE TO GO TO THE WEB SITE
William’s syndrome is a disease that affects one out of every 20,000 babies. It is a genetic defect and is not curable thus those affect it will have it for life. The disease is known for the myriad of issues that affect each person and the lifespan and quality of life is different for each individual with the disease. The symptoms can include varying degrees of issues ranging from high blood pressure, diabetes, sensitive hearing, narrow arteries, and poor vision just to name a few. Some experience all of these and some hardly any.
Stephanie has a severe case, but this also means she experiences the positive symptoms to a greater degree. For example, people with William’s syndrome are extremely friendly and she is no exception! From her years as toddler, she would explore social situations with glee often inviting herself to other people’s picnic tables or beach towels for a snack and a conversation! Somehow animals see this love within her. She can bring out the best in cats who fear most other people. As an animal lover, she is excited at any opportunity that she is given to work at an animal shelter or simply just meet a friend’s pet.
The William’s Syndrome Association has been instrumental in helping us not only understand the disease, but in gathering together those affected by it to expand our knowledge, share insights, and simply be together. While it is never easy to have a sick loved one, Stephanie has helped us all to appreciate more within our lives. She is an inspiration in her strength, positive attitude, and love