The search for a diagnosis.

I wanted to write a brief overview of what has transpired in our family's life, and especially Alex's life, since May of 2019. It had been five months since we first noticed Alex limping occasionally when she would run. Gradually it became more frequent and consistent. Several visits to the doctor had not given us any more understanding because other than the walk and run being a bit off there were no signs or symptoms of anything being wrong. End of April 2019 we had x-rays done and those were inconclusive. Thankfully our wonderful pediatrician sent us on to pediatric orthopedics because even though the x-ray was read as normal he knew there was something going on. On the last day of April, we had an appointment with Orthopedics and left that appointment with great concern over the possible diagnosis of bone cancer or bone infection and instructions for an MRI the following day, a Saturday. The MRI confirmed that something was there but was not able to diagnose and a biopsy was scheduled for May 7th. The biopsy lasted about an hour and we were so thankful to hear that bone cancer was able to be quickly ruled out but they would need to keep her for approximately three days for more testing. These three days turned to 6 and many tests were run and scans taken. We were sent home with an idea that she had some sort of Vascular Anomaly and we would follow up outpatient. We were all happy to be back home together as a family but not thrilled with Alex's non-weight bearing status requiring the use of walker and wheelchair. Even with these obstacles, Alex was content with her new situation. Sure, she had times of disappointment when she wasn't able to do the things her siblings were doing and especially when she realized jumping on the trampoline was not an option. Over the course of the next five months, Alex was taken off non-weight bearing status several times only to break her leg again and be put back in a cast and back off her leg. Through all of this she persevered. The other kids were sweet to sit on the floor and play with her and adapt their play to work for her. Her casts were always waterproof and we spent much of our summer letting her swim, where she could exercise and enjoy being active without risk of hurting herself.

Our doctors consulted with the three Children's Hospitals who are considered to be the top in Vascular Malformations. Following these consultations, we received an official diagnosis of Gorham-Stout Disease. There are approximately 300 people in the world known to have this disease which classifies it as a rare disease. This is a disease that is treated by hematology/oncology but it is not cancer. It is considered to be in the cancer family because of the way it can spread through the body. For Alex, the femur, muscle surrounding the femur, and the knee joint are affected by the malformation. Gorham-Stout disease, also known as Vanishing Bone Disease and GSD causes an overgrowth of Lymphatic channels in bones and soft tissue leading to a breakdown of these parts of the body. For Alex, the disease is only in her leg but for many patients, it is in their spine, rib cage, or scull. It can be found in any bone and surrounding soft tissue in the body. It sometimes seems strange to say but we are thankful that her disease is where it is because we realize that it could be so much worse.

The search for a diagnosis was long and difficult but we learned a lot during the search, our family learned to trust God in new ways through the trial, and we learned in new ways that fun can be made out of all kinds of different situations, even the less than perfect ones.