Joyce’s story Shwachman diamond syndrome

The story of Joyce

My name is Joyce and I was born with a rare disease called Shwachman Diamond Syndrome.
I was born on May 2, 2008 in a hospital in NJ as a so-called “healthy baby”. Everyone assumed I was healthy and up until the 2nd day I was. After the 2nd day of being home everything went downhill, I started experiencing a weird combination of varying symptoms.
I would get rashes all over my skin and my face would swell up like a balloon. Not only did that happen but I would nearly choke on my bottles but was never fully satisfied, I was always just an uncomfortable mess. It wasn’t until I was around 1 year old
till we got answers when one day I couldn’t wake up. I lie in my mother’s arms not moving, unable to be aroused or woken from my deep sleep. My parents freaking out drove me to the pediatricians office where they looked at me and immediately called 911.
I was taken to a local hospital in NJ and it was then determined that I was hypoglycemic with a blood sugar of 36 (normal is 80-100). I spent a week in the ICU of that hospital where nobody could determine why my blood sugars plunged the way they did, and why
it happened so all of a sudden. The doctors there then told us to follow up at Children’s Hospital of Philadelphia which we did. We went there and first an endocrinologist discovered I had an enlarged Liver and many illnesses relating to low ANCs. It wasn’t until a gastroenterologist brought up Shwachman Diamond Syndrome where my parents realized how much the symptoms line up to a perfect match. We were referred to a hematologist who confirmed with a genetic panel that I, in fact, did have SDS.
Shwachman diamond syndrome is a rare genetically inherited disease that occurs at a rate of 1 in every 80,000 people. This is caused by a mutation in the SBDS gene and is inherited through an autosomal recessive pattern (patient must inherit one copy from each parent).
This disease causes bone marrow failure, pancreatic insufficiency, bone problems, genetic predisposition to cancer, and many other defects. It causes the bone marrow to malfunction leading to a variety of problems like neutropenia, anemia, and in rare cases thrombocytopenia. This disease also comes with a predisposition to developing forms of leukemia and myelodysplastic syndrome. Patients have a 5 percent chance of developing leukemia as a child that rises to 25% as you reach adulthood and a 30% occurrence of
myelodysplastic syndrome. Pancreatic insufficiency is a complication that causes a decrease in digestive enzymes in the body which can lead to malnutrition and malabsorption of fats. Bone problems include a high occurrence of low bone density and short stature/delay of growth. Other miscellaneous complications can include dental issues, learning disabilities, and cardiac malfunctions.
Due to this disease my life has been rather chaotic. I’ve been to the hospital thousands of times and have gotten thousands of tests run on me throughout my lifetime. Every fever means a trip to the emergency room to check my ANC levels, which determine if I get admitted or get to go home. Once a year I go to CHOP to get a bone marrow biopsy to check for hematological complications and keep a look out for malignant occurrences. The average life expectancy is >35 and most people ultimately die from malignant transformation or infection. I must be extra cautious when it comes to infection because a normal infection for someone else can lead to me fighting for my life in the hospital. Because of the pancreatic insufficiency I must take medication every time before I eat or else
I won’t be able to properly digest my food. 1, 2, 3, 4 pills every meal, going to the school nurse everyday before lunch to get medication.
Due to having this disease I have gotten used to finding ways to distract myself from hospitals and medicine. One way I distract myself is through the farm and horseback riding. I have been riding horses for 5 years and volunteering at a local farm for 2 years every Sunday all year round and every wednesday during spring and summer. I joined my farm’s show team this year and enjoy competing in local competitions in the western discipline, the show ring is my home. Horse riding is a way I like to escape and think about something else, thinking about the feeling of cantering in the trails or trotting in a show ring. It’s my way of forgetting about the medicine even though I go to a medical based high school, it’s my path besides medicine that life takes me too.
I have been lucky in the fact that I don’t look sick, I look like an average teenage girl. Nobody ever thinks of me having a rare genetic disease until I hit them with the facts, the fact that I won the genetic lottery but the opposite of winning. I’m lucky to not have the worst case of SDS but still I am rare and embrace it. I have learned to live with this disease and make it a part of my personality and of my life. I learned to not hide it and to be open about it, allowing people to know me through my disease
and ask questions. I know that there is no cure to this disease but I still have hope, hope that a miracle will happen and we will get a cure. Even though it seems like a bad thing I learn to make it a happy thing and have a passion to help people just like me make their diseases a good part of them. I continue to raise awareness of this disease and have a passion for helping people all around me. I am unique, I am strong, I am happy, I fight, and I will never ever give up.

Joyce’s story Shwachman Diamond Syndrome