***I thought I would update the introduction to our family. Here is a brief synopsis of our family and our journey.***
Waverly just turned 10 years old and Oliver is almost 7. They were diagnosed 5 years ago with MPS IIIA, also known as Sanfilippo Syndrome. (I have a detailed explanation of the disease on the right side of the blog.)
Wavey is a beautiful little girl. She has always been kind and gentle. She was an easy baby. She was big for her age and lagged behind her peers in gross motor skills. Otherwise, she met all of the usual milestones. Around age 2, I started to grow concerned that she seemed to have slowed down in her development. Our pediatrician was not concerned, since Wavey was incredibly social and happy.
When Waverly was 3 years old, her little brother Oliver was born. He ended up spending 2 weeks in the NICU with heart and lung issues. We thought for a few days that he wasn't going to make it. During his time in the hospital, he failed his newborn hearing screening test. We discovered he had a severe hearing loss at 6 weeks of age. Our audiologist suspected Wavey had the same hearing loss, after meeting her. We thought that the hearing loss was the answer to our question of why she seemed behind the other kids her age.
The kids were fitted with hearing aids and the family moved to London for my husband's work. Waverly was enrolled in a preschool program run by speech therapists and OTs. Everything felt perfect.
After a few months, Wavey's speech therapist met with me to discuss her concerns. Wavey's behavior was not typical for a child with a hearing loss. She was concerned there may be something additional going on, so she referred us to a Pediatric Neurologist and a geneticist. We had multiple appointments, blood tests, urine tests and an MRI done in London. The doctor suspected there was an underlying issue, but no diagnosis was made.
I ended up getting a report back on some blood work from the lab. One item was flagged for follow-up. The neurologist was not concerned, but when I googled it I became VERY nervous. That particular item was associated with another serious disease. I grew tired of waiting for the doctors to figure out the problem, so I ended up flying back to the US with the kids.
We were able to get Waverly in to see the chief neurologist at CHoP. The doctors there were incredible! Waverly underwent a battery of tests. One month later, after Matt had flown back for the appointment, we sat in a hospital room along with 4 doctors. I knew that was a bad sign. They suspected Waverly had Sanfilippo and they received the confirmation test results that morning.
That meeting is a bit of a blur. I remember them telling me she had MPS III. They began to explain what that meant and I interrupted. I wanted to know if she was going to die. He told me that yes, children with Sanfilippo die tragically young. I then asked what treatments were available. He told me there was nothing we could do. We talked about Oliver and the potential that he had it as well. In my heart, I knew he was going to test positive.
Our life changed dramatically that day. I remember staring at Waverly in the back seat of the car during our hour long drive back to my mom's home. She was completely unaware of her fate. I wept. She sang "If You're Happy and You Know It".
I appreciate the little things now. That is a recurring theme here. Each smile and laugh mean so much more to us. We try to create memories with them whenever possible. We love them for who they are....while mourning who we wish they could be. They bring incredible joy to us and to all who meet them. They have impacted the world more in their short lives than most people do in a lifetime.
Waverly no longer speaks. She is cannot walk safely without adult support and uses a wheelchair. She has had a feeding tube for a little over a year, after a swallow test revealed she was a risk for aspiration. She can no longer scribble with a crayon, put together a puzzle or stack blocks. Her fine motor skills are deteriorating. However, she is happy. She loves to look right in your eyes and smile. She loves to giggle and be tickled. She loves to watch Cinderella and Winnie the Pooh. She loves to hear us sing her favorite songs. She will sit and listen to her favorite stories, like "Sammy the Seal" and "Click. Clack. Moo".
Oliver has never really said a word. He loves to take walks and explore playgrounds - slides and swings are his favorite. He loves to watch Mickey Mouse Clubhouse. He is a very active TV watcher - running, jumping and clapping throughout the show. He enjoys the water - bathtubs, sprinklers, pools - he doesn't care. He likes paging through his books, but refuses to sit still long enough to be read to. He willingly climbs into his bed each night for bed, with his duckie and Mickey Mouse football in hand. He is my cuddle bug. Ice cream cones are the way to his heart.
We are not sure how much time we have with them. The life expectancy for children with Sanfilippo type A varies. The doctors have told us between 10-18 years is typical. I am not convinced that there is enough time for the current research to save Waverly & Oliver. However, I would do anything to prevent another family from going through this heartache.