As a parent, we all pray that we will never have to say goodbye to our kids. It is even hard to let them go to school and then when they get older, out with friends. Letting them go is painful. I could not imagine knowing that I would lose my child for good and that it is only a matter of time.
For Kat von Tungeln, this is a reality. She has lived with this pain for three years. When I found out about a race for this beautiful girl they were putting on in Hull, Massachusetts, I knew we all had to help. The Backstage Beat has some of the best and most generous friends, and this is why I am telling you this story.
I asked Kat to tell me a little about Rachel and this disease that I had never even heard of. Here is what she said:
Rachel is my 12-year-old daughter that was diagnosed in July 2009 with Juvenile Batten Disease: a fatal, neuro-degenerative disorder. This disease (in a nutshell) causes cell waste material to build up and kill healthy cells in the eyes, brain and central nervous system. Unfortunately, because there is so little funding and awareness, Batten Disease is a death sentence for all affected children. This disease comes directly from a DNA defect and is not contagious.
Rachel is blind and will lose her ability to talk, walk, remember, think and eventually, after becoming bedridden, our Rachel will die. She is also affected by dementia, a condition usually afflicting the elderly.
It is our goal to help raise awareness and money for Batten Disease research so we can start treating this disease and eventually rescue these children (who were born NORMAL) from their fate.
How did you come up with the idea for a race in Hull?
There is a Facebook group for Batten Families and several other families across the country hold Batten Disease Research Fundraisers by way of 5k, 10k etc. It was an easy choice considering how beautiful our little seaside town of Hull, Massachusetts is.
I am sure there are a lot of parents in your situation, not identical of course, but dealing with a situation that will take their child from them. What advice can you offer?
This is a really subjective answer because not every parent will handle a situation like I do. Lots of kids have cancer and other scary, life-threatening illnesses but even with most of those, there is some hope that the child will survive and live a long life. With Batten Disease, death is absolutely certain. In some ways I think parents of kids with Batten Disease have it easier because there is no wasted energy on hope. We know our kids are going to die a slow, miserable death and we have to do everything in our power and ability to make sure that children have the best, most memorable experiences as possible. Don’t be afraid to call and ask for help from organizations like Make-A-Wish. They provided my husband, Rachel and our 3 healthy children with a beautiful, memorable and once in a lifetime vacation. These organizations are out there to make life more memorable and I am extremely grateful for that.
The only other advice I can offer is really something we can apply to everyone and every life. Don’t be afraid to ask people for help. If they are offering, accept it!
What would you tell the parents out there that take for granted their kids?
You really can’t convince people not to take life for granted. I remember when a friend of mine had a son who was really sick with cancer. For a moment we can all remember to hug our children extra tight but the day-to-day reality of life is that we are all human and we all take our health for granted. Try and remember we only live once and to make the most out of the time you have on this earth (for you and your kids). Tomorrow may never come so don’t put off something you’ve been planning because you might never get the chance.
Why is there so little research into this disease?
There is very little money into research of diseases that have little chance that a drug will come to market, especially when so few children will be cured or treated. If there is a lack of an anticipated healthy profit margin, drug companies won’t both. Even if there were more children with Batten Disease it is extremely difficult to convince the brain to accept medication or gene therapy that will successful and safely cross over the blood brain barrier.
Whenever I tell people about Team Rachel and our fundraising efforts I always try to explain to them that research into Batten Disease will also help scientists and clinicians understand more about other brain based illnesses like Dementia, Alzheimer’s, MS, Parkinson’s, etc. Its a true statement and there is a lot of evidence that we can learn a lot about diseases of the nervous system indirectly by investigation into other diseases (genetic or otherwise).
What is Rachel’s favorite thing to do?
EAT! She can eat us all under the table. She also likes to listen to music, play with her polydactyl kitten named “Mittens” (after the alley cat in the movie “Bolt”). Because her disease causes dementia Rachel also finds great enjoyment with listening to movies that she was able to see (she went blind 3 years ago at age 9) when she was little. She remembers what the characters look like and the plot. She has a harder time these days with remembering the details in new movies so old movies tend to be her favorites. She especially loves “Princess Diaries 1 & 2” and “Ice Princess.”
What can we all do to help?
Spread the word about NORD (National Association for Rare Disorders) and about Rachel and Batten Disease. Rachel’s website is www.teamrachel.com.