For years, we have been told that my kids had a disease called Shwachman Diamond Syndrome. For the most part, it seemed they had a the text book version but...over time, things got more complicated. It started to look a little different. In 2009, we met an amazing Hematologist at Seattle Children's Hospital. It was serendipity. One long night of searching for help for my kids, I stumbled upon her name. Never in my life, have I thought we would be one of those families who went from specialist to specialist, trying to get answers. Just for 'fun', I called the number on the website...She answered! Not only did she answer, but she said she would like to meet my kids the following week!
Well, long story short...that first meeting we joined some research studies she was working on. Finally, in December of 2013, she found the gene that was making my kids sick. It was not Shwachman Diamond Syndrome as we had thought. It's called Dyskeratosis Congenita. A disease that masquerades and Shwachman's but has more complications and a shorter life expectancy.
Life has been hard this past hear as we try to adjust to a new way of thinking. As we process what this new diagnosis means.
Shelbie, my oldest has been through two years of Chemotherapy, a nine month round in 2007 and 4 months in 2010. It has changed her. Her immune system has gone into failure and she now receives plasma transfusions every months. Her mind is not as sharp as it once was and she often has problems remembering things and processing things. Mitochondrial disease has snatched away so much of her energy. Walking is difficult and we have learned that as much as we hate to use braces and wheelchairs, it is necessary at times and makes life so much easier for her. Day to day activities are often a problem for her.
Spencer has declined a great deal in the past two years as well. Not a day goes by that he isn't sick and nauseated. He often loses feeling in his legs and his hands. He suffers with chronic gastrointestinal problems, chronic diarrhea and his bone marrow is only functioning at about 15%. It appears that his immune system is also beginning to fail and blood transfusions for him are very much in his future.
Samuel is my youngest and though he has been healthier than the other two, he is starting to wear down more than usual. He too has lost a lot of bone marrow function just recently. He is also at just 15%. Despite his decline, he manages to do the things that are important to him. His learning disabilities continue to be difficult for him.
All three kids, in addition to their bone marrow problems and pancreas insufficiency also have Dysautonomia. A condition affecting their autonomic nervous system. They can't regulate their body temperature, they lose their balance, break out into hives for no apparent reason and a host of other discomforts. They have developed tremors in their hands and clonus in their muscles.
Not a day goes by that someone isn't in pain or feeling weak and sick. Life, by all accounts is hard for them but you will rarely see them looking at life from the sidelines. We have learned to embrace each moment we have, we have learned to laugh in the face of fear and to live out each day to its fullest! For each day we have been given, we are grateful and blessed.
Life with chronic illness can be a lonely place and a tiring place. A place of uncertainty. Sometimes, it drains us of energy. I hate those days, the days when I feel weak and fearful. Despite the trials, I wouldn't trade this life for anything! We have learned so much and grown in ways I never thought were possible.
We love deeper, we laugh louder and hold on a little longer. Join us on this journey of life.
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