*Olivia lit up when she saw her Birthday Banner*Peter was so excited to sing Happy Birthday to Olivia and he tried to help blow out the candles from across the table*Olivia actually tried to help blow out her candles*Olivia actually used a spoon to eat her cake and ice cream*Olivia loving her birthday gift of the Princess and the Frog movie*
Sensorineural deafness (or nerve deafness) is one of the many negative side effects of Sanfilippo syndrome. Olivia has had her hearing tested on an annual basis since she was two (even before she was diagnosed with Sanfilippo syndrome). In the last few years we've had to transition to having sedated hearing tests because Olivia just isn't able to actively participate in the traditional audiology exam. Olivia had her first sedated hearing test in September 2010 when she was having her port removed. Unfortunately the test showed that Olivia had mild to moderate hearing loss in her left ear and severe hearing loss in her right ear. The audiologist recommended hearing aides and took impression molds so that Olivia could be fitted for the hearing aides. We were advised to follow up with a local audiologist so that we wouldn't have to travel far if a hearing aide was damaged or needed a new battery, etc. We took a copy of the report and the molds and were on our way. I spent weeks trying to find an audiologist in the area who would work with the information we were given at Duke. Each audiologist I spoke with said they weren't comfortable working with that info and suggested we contact someone else. Add that to the hurdle of finding someone who worked with our insurance company and it was becoming an incredible frustrating situation. I went back to Olivia's primary pediatrician and explained the situation. He suggested that we try UNC and put in the appropriate paperwork for us to be seen there. I faxed over the report from the audiologist only to be told that the audiologists at UNC were not comfortable working from the Duke data. They suggested we start all over by seeing a UNC ENT and then moving forward (because of course you can't do anything with audiology without first going through an ENT). UNC is an in-network provider with our insurance company while Duke is out-of-network. With our particular insurance we aren't given the option of just paying the difference between the in-network and out-of-network providers, it's a all or nothing situation, they either pay all of it or none of it so we are always advised to try the in-network option first. So off to UNC we went, of course the pediatric ENT at UNC had a waiting list almost 2 months long. I went back Olivia's pediatrician and explained our situation, he then suggested that we go back to Duke and put in the appropriate paperwork requesting that Olivia be seen at Duke. I called Duke audiology hoping to FINALLY schedule the appointment to get Olivia fitted for her hearing aides. By this time I'd spent almost 6 months trying to get this resolved. The Duke audiologist said that Olivia had outgrown the old molds and the report was out of date so they recommended another visit to ENT and another sedated hearing test.
So frustrating! Sanfilippo syndrome is accompanied by so many health risks that complicate anesthesia and sedation. I hate to have Olivia sedated and we try and combine procedures as much as possible.
Olivia was being sedated for her MRI last week at Duke so we tried to coordinate with audiology so that they could do the repeat sedated hearing test at the same time. Unfortunately there was a back up with MRI and scheduling glitches so they were not able to do the test.
We headed back to Duke today for a sedated hearing test. I fully expected that they would take another set of impression molds and I'd even gone so far as to schedule an appointment with audiology in 2 weeks so that Olivia could be fitted for her hearing aides. I canceled that appointment today!
The audiologist walked out to find me in the surgery waiting area and we headed into the consult room. I was expecting the worst...increased nerve damage, not repairable with hearing aides, etc....
The audiologist told me that Olivia's hearing tested NORMAL in both ears, her right ear is significantly improved. Both ears are well within the normal limits! We went on to discuss that sometimes patients with Sanfilippo syndrome experience improvement in their hearing post transplant. As soon as she said it I remembered going over that when we were deciding about whether or not to move forward with transplant. But to be honest with all the life/death stuff we've been dealing with hearing was way down on the list.
On the heals of the news we received last week about Olivia's MRI and improved brain activity today's news is icing on the cake! Such an unanticipated blessing!
Today Olivia turned 5. I really can't believe that she's FIVE. If it were not for Olivia's love of the "Happy Birthday song" I think we would have skipped it all together. I'm just not ready. When your child has a terminal disease it just sucks all the fun out of birthdays. But then when your child has been through as much as Olivia has then every day is a celebration. Birthdays are a big deal, we cannot just take them for granted. I'm just an emotional mess tonight. We did have a small celebration today. I think we'll do a birthday party in a couple of weeks (after I've had time to process).
Mike decided on Friday evening that we should head to the mountains for the 4th of July. It was a very last minute trip but we had a fabulous time. We headed up to Asheville, NC for the weekend. It's a beautiful part of the country and it was such an unexpected treat to escape the heat for a few days. We drove up to the mountains and spent a few hours in the Pisgah National Forest. We stayed in an adorable little cabin (thanks to a last minute cancellation) outside of Asheville. We toured the beautiful Biltmore Estate.
We do try and travel and experience new things together often as a family. People often comment that they are so impressed that we're able to travel so often. I'm not quite sure how to interpret these comments. Mike and I have experienced many separations during our relationship so we do value the time that we get to spend together and try not to take it for granted. We also are never sure how much longer we'll be able to do this sort of thing given Olivia's health and mobility so we try to make the most of the time that we have. However I don't want you to think this is easy. Our kids are relatively easy travelers but every trip has it's highs and lows. It's not always a walk in the park. So I'll share just a few of the lows from this trip before I get to the good stuff:
--We had the perfect spot to view the fireworks from a cafe patio but when the fireworks were late starting Mike and I worried that we were missing them and started walking to find a better spot and ended up watching them from the sidewalk under a tree
--Olivia had a diaper leak/poop issue that I wasn't aware of until AFTER I'd picked her up from the stroller to cuddle with her during the fireworks...yuck
--Olivia bit Peter on the nose, really hard, enough to make him bleed. Peter responded by biting her on the arm, hard enough to leave a huge bruise
--We brought a special bottle of wine (bottled by my parents from grapes grown on their ranch) but were not able to enjoy it because I broke it trying to unload the car
--Five minutes into our Biltmore tour I wanted to quit, everyone had their earphones in for their audio tour and were moving 100 times slower than those of us who had not shelled out the extra $10 for the audio tour, it was hot, and crowded, and Peter was heavy and I had a mini-meltdown of my own
--On Monday night Olivia refused to sleep, she was exhausted and fell right asleep around 8:30 but then woke up at 9:30 and refused to go back to sleep until well after 1 am. We were in a one room cabin so that meant that no one was able to get any sleep and Olivia was up again at 7 am
So enough complaining, onto the good stuff. We stopped as the Pisgah National Forest for a quick hike. We wanted to see Sliding Rock. My mom visited Sliding Rock as a kid and told us how neat it was. It's a naturally occurring 60-foot waterslide. I think I surprised Mike with my willingness to try it. He put one foot in water and declared that it was too cold and the kids wouldn't like it. I announced that Peter and I were going to give it a try. It was a little crowded and there was a bit of a line. By the time that Peter and I got near the end of the line Mike had changed his mind so the first time we all went down together. Peter loved it! Olivia enjoyed the slide down but didn't like the plunge at the end very much.
Here's a picture from up above looking down on the sliding rock. It doesn't look steep at all but once you're sliding it does seem to go pretty fast.
Mike and Peter
More of Mike and Peter. They went down at least 4 or 5 times together.
Here's a video of Mike and Peter sliding down. The first part is a little shaky but it gets better at the end. You can also clearly hear me saying "oh my God" as Peter goes under at the end. There were lifeguards and Peter had a life jacket on but it was still a bit too much for me to watch.
We backpacked on our short hike to and from the Sliding rock. The kids enjoyed the ride!
We stayed in an adorable cottage. It was a very last minute trip so we're lucky that there was a cancellation.
We headed into Asheville for ice cream and fireworks. Olivia and Mike shared a milkshake.
We spent the 4th touring the Biltmore Estate. It was amazing. I still can't even fathom that it was someone's home! The Biltmore is not very accessible so we backpacked. Mike is a super stud and could have carried Olivia for miles. I am very glad that I had the lighter child!
I couldn't resist tasting a grape, Peter tried one too! They were pretty sour.
There are 101 bedrooms and 43 bathrooms.
Biltmore House is enormous!
Olivia making a wish!
After our tour Peter was exhausted (I'm not sure why since I carried him the entire time). Peter slept through lunch in my lap. It was one of those moments I'll treasure! When Peter was sleeping I could still see the baby boy, all his sweet infant features. My baby boy is growing up so fast.
We rounded out the weekend with sparklers and bubbles at our cabin.
We hope that you had a fabulous 4th! I know we did!
In October, 2008 Olivia was disgnosed with MPS III or Sanfilippo Syndrome, type B. MPS stands for: Mucopolysaccharidoses. It is a genetic lysosomal storage disease (LSD) caused by the body's inability to produce specific enzymes. Normally, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS and related diseases, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials.
Babies and young children with Sanfilippo Syndrome appear normal, but symptoms begin to appear with age as more and GAGs build up in the cells of the body. There are 3 stages to the disease. Stage 1 the child begins to lag behind peers and begins to display difficult behaviors. Stage 2 the child losing his/her language, becomes hyperactive, chews on everything, and has sleeping difficulties. Stage 3 the child slows down, becomes dependant for all mobility and loses the ability to chew/swallow. There is no treatment or cure for Sanfilippo. Life expectancy varies.
