Blog and News
Blog & News
Our daughter, Claire Elise, was a huge, and blessed surprise for my husband, Derek and myself. After ten years of marriage, we had concluded our life together would not be one that included children. My pregnancy was a fairly easy one, with the typical nausea, aches, and nervousness about being first time parents. I took every precaution a mother-to-be could imagine.
Our beautiful daughter was born December 20, 2009, perfect and pink, with great APGAR scores. She was jaundiced for about a week after birth, but was otherwise healthy. We took her home and proudly dove into our sleepless nights and joyful days. At just two weeks of age, Claire was incredibly strong, holding up her head, and standing on her Daddy's lap. Just like any other new parents, we were on cloud nine.....visiting family, and learning the new routine of being a family of three.
At two and a half months, Claire began to exhibit some unusual symptoms, and our wonderful doctors were helpful and understanding about our mounting concerns. Claire's condition very gradually worsened, and, by three months, she was blind. We were on our way to a morning appointment to a doctor when I noticed our beautiful daughter had turned blue. We immediately called the doctor, and he said to take her to Akron Childrens' Hospital if it happened again. We went to the appointment, and returned home. Shortly after getting home, she turned blue again. In a panic, we rushed to the hospital ER, where the staff began every test imaginable. By the end of the day, Claire was intubated...never to breathe again on her own. In the ten days she was hospitalized, neurologists and geneticists ran every test and spoke with every contact they could muster. They suspected she had a form of Leukodystrophy, a genetic disease which both parents must carry for the disease to manifest.
Our baby girl passed away on April 26, 2010, at four months of age. The grief of losing a child cannot be described. All of the hopes and dreams we had for her were to be unfulfilled. The pain and helplessness of not being able to help your child unimaginable.
Due to the disease being autosomal recessive, we have been advised not to have another child. The chance of having another child with the same disease is 1 in 4.
There are no mandated newborn screening tests for Leukodystrophy of which I am aware, in any state in our country. Testing has become common for such genetic diseases as cystic fibrosis, PKU and sickle cell anemia, to name a few....once all-too-rare, and untreatable diseases. Therapies for many rare diseases are being developed daily. Unfortunately, the number of rare diseases being discovered far outnumber available newborn screening tests.
Today, my singular goal in life is to assist families in preventing the loss of their children to rare disease. Newborn screening is the best way to begin that journey. Just as I might have been during my own pregnancy, many mothers-to-be do not want to entertain that their child might carry a disease. Worse yet, to conceive of the possibility their beautiful baby might carry an untreatable, voracious, terminal disease. Even though it can be difficult ot hear, every parent-to-be needs to be aware of newborn screening. It is the first defense in finding, treating, and hopefully, curing, all rare disease.
Education, awareness, and new test development is essential to preventing the loss of any child. Early detection can afford treatment, and at times, cures. There are many steps to curing disease- detection, research, treatment, testing, bureaucracy, funding, awareness.
Please take the time to learn all you can about newborn screening. Pass on that information. Volunteer your time to help our cause. Help raise funds. Take part in community events to raise awareness. Every voice counts and every child matters.
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