The Beginning

Rachel has a disease, Sialidosis (Type I), that is very rare and affects about 1 in 4 million live births. This is an inherited disease…passed down by a gene from each parent. Rachel started showing symptoms around the age of 16. She had trouble walking, specifically starting and stopping, and started shaking some. At first we thought she was just going through a clumsy stage of life, but the symptoms persisted and got worse. We went to our family doctor who sent her to a local neurologist. He ran tests and could find nothing wrong. He sent us to Children’s Hospital in Little Rock. Every time we went they would run tests and send us home. We would wait for results and then go back and repeat the pattern. After a couple of years and no diagnosis we decided to go to the Mayo clinic. They were able to run more tests and put everything together to find out she has Sialidosis.

This is a disease that continues to progress and there is no cure. At this point Rachel is 20 yrs old and uses a walker to go everywhere. Ataxia, a neurological dysfunction that causes lack of coordination of muscle movement, is also a symptom. This causes her to shake and makes it hard for her to write, cut her food, get on escalators, or do other things involving fine and gross motor skills. Myoclonus movements (jerky movements) are also another symptom that would continue to get worse. One example would be like when you are sleeping and all of the sudden your body jerks. But this can happen at any time for Rachel. Seizures are another symptom. Right now all we can do is treat these symptoms with medication but there is no assurance of how long this will last or how far it will progress.

Through talking with her neurologist we found out about Bone Marrow Transplant and through much research and prayer Rachel has decided this is what she wants to try. The best outcome is that this is will stop the progression of this disease. There is always a chance that there would be improvement, and ultimately this is what they always hope to see, but the doctors aren't very optimistic about this. In fact there is a chance that this will not work at all and the disease could continue its course . This procedure has been performed for several other metabolic diseases, but it still a very new procedure. She will be receiving Chemo and radiation before the actual transplant to suppress her immune system. The transplant is scheduled for Aug.7, which is Rachel's 21st birthday. From this time through the actual first 100 days of transplant will be a critical time. We are praying that her body will accept the new marrow instead of rejecting it, which can have serious consequences.

Rachel and I (Jill) will be leaving on Sunday (7/12/09) for Minnesota and we expect to be there at least through November if everything goes perfectly. Through some missionary friends I have found a place to stay, that is close to the hospital and is a very reasonable rent. This has been a growing closer to God experience for the whole family...so much of this is out of our control. We would appreciate your prayers and good thoughts as we go through this journey. We will try to keep this blog as up to date as possible so check back often!