10-6-88 ~ 3-18-07
CS – 1
“The purest wonder in life is found in the sharing of love.
And the real gift is to have known love at all.
Blessed are we who have held the gift in our hands.”
— Flavia Weedn
Good morning class. Today, I would like to tell you about having a sister with a rare disease. Her disease is called Cockayne Syndrome (CS). It is a rare form of dwarfism meaning small in size. It is genetic and recessively inherited which means both parents are carriers. There is a 25% chance that each time my Mom has a baby, it may have Cockayne Syndrome.
Some of the characteristics are that they usually develop fairly normal the first year. They are microcephatic meaning small head. They sunburn easily (even with strong sunscreen.) They experience progressive hearing loss and retinopathy and/or cataracts which affects their vision. This is something that gets worse until eventually they can no longer hear or see. They many have many cavities. Facial appearances can be pinched faces, sunken eyes, and beaked noses. They suffer pre-mature aging—shortened life span (usually from about 13-20, although some have lost the battle at as little as 3 years old.) They also lose subcutaneous fat.
Brittany, my sister who has CS, had a tube placed in her stomach at the age of 1 1/2. It enabled us to feed her at night the extra necessary calories, minerals, and vitamins she needs to stay healthy, keep meat on her and do as well as she has.
Having Brittany to me is a blessing because of how happy she makes you feel with her big kisses, hugs, and with her smiles. She makes me feel special when I see and feel how much she loves me. I make her happy when we play or dance or just snuggle. Even though she can’t walk or talk, I know that inside she is happy. A lot of times I’m the only one she wants when she gets frustrated.
There are sometimes when the disease is horrible. In September through November 1997, she was in the hospital because of an infection she had because of her stomach tube. Things got really bad and seeing her in so much pain was a very difficult thing for me. It seemed like such a long time, but thankfully she is better now and her disease hasn’t been affected. Things are as normal as normal is with this disease.
Over the years since Brittany’s been diagnosed, we’ve had the pleasure of meeting another family with a little girl who has the same disease as Brittany. Though separated by hundreds of miles, there was a bond made from the moment we met. Our families stay in touch and we have someone who, without having to explain or say anything, knows how the other feels. We were no longer alone in the world. Four years ago poor little Candice lost her battle. I had seen her two weeks before and it was the saddest thing both me and my mother had ever seen. The reality of the disease really hit home and worried me about Brittany. I didn’t want to leave her.
We also met a boy from New Jersey four years ago and he could do more than Brittany and it was so much fun to meet him. The weekend of June 5, 1998, my family and I went to meet with other families for the First Annual Retreat for Cockayne Syndrome. There were 3 other children with Cockayne Syndrome. It was so nice to meet them. As horrible as the disease is, we gained such joy from each one. We are all part of a special family. My heart was touched by 3 more of these special children. Each family said the same thing, that their child touches people in a special way and are loved by so many. Just like Brittany, she’s everyone’s favorite at school and people see something special when they look in her eyes.
In conclusion, I’d like to tell you that for as long as we are blessed with Brittany and we have her, we will have all that we need. Everything else is so unimportant. She will always touch hearts and even change lives.