A year ago today...

Oilvia was diagnosed with Sanfilippo syndrome. When Olivia was hospitalized for an eye infection in January of 2008 they had one of the interns on the children's ward come do a general developmental test. The doctors all assured me that they didn't have any real concerns but and they were mainly doing it to give the intern some practice administering the test since it was a teaching hospital. The results of that test indicated that Olivia was within the normal range but on the lower side. Olivia was discharged from the hospital with a referral to see an ENT (her eye infection started in her sinuses so the ENT follow-up was an absolute necessity) and a referral to see a Developmental Pediatrician (the would repeat the developmental testing so we could get an accurate result). In the months (yes I say months because we were working with the army medical system here) Olivia had her referral appointments. Those led to more tests and more referrals to different tests. The Developmental pediatrician assured us that Olivia was meeting all of her milestones. She wasn't talking much yet but at this point she was only 18 months old, that wasn't all that oncommon. Some kids are late talkers. He did put in a referral for Olivia to see an audiologist to determine if she was having difficulty hearing. The ENT recommended that Olivia get tubes put in her ears and since she'd had such complications with her sinuses (an infection in her eye that landed her in the hospital) her andeoids should be removed. The surgery was scheduled. That first surgery was so very different. I don't think that we're any less nervous now but there's something about the first time your child is having surgery. So much about the process is unfamiliar and unexpected. I will never forget the way the surgeon came to find Mike and I following the procedure. He assured us that she was doing fine and that he would take us to see her. He did say that he noticed some "genetic abnormalities" and he referred us to a developmental pediatrician again. It took several weeks for us to get in to see the developmental pediatrician again. When we finally saw Dr. H the developmental pediatrician Olivia had just started speech therapy. I didn't have any real concerns about her development, lots of kids need speech therapy and do just fine! Dr. H was always pretty open with us, he was careful not to alarm us unnecessairly but he did tell us what his concerns were. We were told that they suspected that Olivia might have a type of MPS but that she was doing so well developmentally that they were sure it was one of the milder forms of MPS. I was told to bring in some family pictures, especially pictures of Olivia at different ages. The doctors at the army hospital went to a weekly meeting with doctors at Seattle Children's and they were going to present Olivia's case. By this time I was pregnant so we started to become a little concerned. Olivia had several other tests done as doctors tried to find out which type of MPS Olivia had. Dr. H told us not to start looking online yet, he didn't want us to be frightened, they thought Olivia had a mild type of MPS. Of course I went right home and started researching, Mike was able to exhibit some self-control and was there to calm me down when I would completely freak out about what was going on. At one point we were told by specialists at Seattle Children's that they had narrowed it down to MPS types that were treatable with replacement enzyme therapy but that further testing would need to be done.

That brings us back to a year ago today....Dr. H called to say that they had the restults and he wanted to know if Mike and I could come in to meet with him. I was still optimistic, did we really need to come in I asked? Well, do you want me to tell you over the phone, he asked. I could tell by his voice that it was not good. Mike was able to meet me at the doctor's office that afternoon. He told us that Olivia had MPS III type B, Sanfilippo syndrome type B. She woudl continue to make developmental progress for a time but then she would begin to lag behind her peers then she would stop making any progress at all. I remember trying to ask something about her ability to learn and retain knowledge---would she stop learning new things or would she forget/loose the things that she already knows? She would loose the ability to learn new things as well as things she already had learned. Her life expectancy would be shortened, average is between 10-14 but sometimes people live into their 20's. Dr. H referred us to the biometabolic specialist at Seattle Children's and I already had an appointment for a few days later.

Our lives changed in an instant that afternoon. I was a complete mess, I had done all the research, I knew what MPS III was. I thank God that Mike didn't know exactly what we were in for. He was able to help me remain calm and process things one step at a time.

Several different scenarios kept running though my head that afternoon and in the weeks that followed. I never would have imagined that just one year after Olivia's diagnosis we would be 78 days post unbilical cord blood stem cell transplant! We know that this transplant is not a cure for Sanfilippo Syndrome. We are impressed with the developmental progress that she continues to make each day. Olivia's journey will be very different, our journey as parents will be very different than what we had anticipated but at least we're on a road! We might go in circles for a while or get a little lost along the way but at least we're going somewhere! I am so much more hopefull today than I was a year ago. I can't even imagine how I will feel this time next year...