Meet the McNeil Family

Meet the McNeil Family

Tuesday, March 19, 2013

5 Years

Tomorrow it will be 5 years since Waverly was diagnosed with Sanfilippo Syndrome. 5 years. I have been in a state of reflection anticipating all of the emotions that the diagnosis anniversaries always bring. I will write more about my feelings tomorrow, but I wanted to share our diagnosis story.


I woke up the day of our appointment at CHoP with a twinge of excitement. I was confident that we would finally find an answer to the issues we were seeing regarding Waverly's development. Why she was mouthing items? Need to chew constantly? Potty training regression? And overall lack of development. Waverly and I had meet the chief of neurology about 3 weeks prior. He ordered some lab tests and an MRI. His collegue would call me with results that came in eliminating a potential diagnosis. Still no answer, but they were still waiting on a key test. Matt flew in from London to accompany us to the appointment. I remember sitting in the waiting room for a very long time, way past our scheduled appointment time. Finally we were brought back to a room. We walked in to find Dr. Tennekoon waiting for us, along with a few other doctors I had never meet. I knew that was a bad sign. My stomach tighten and I braced myself.

Sanfilippo Syndrome.

Dr. Waldman, a resident working with us, took Waverly to one side of the room to play with some toys. I could see tears in her eyes.

I remember asking if there was anything we could do to treat it, to cure it. We were given papers from Duke about an HSCT (stem cell transplant) and told to contact them for information. We were given papers from the MPS Society about Sanfilippo. They told us there was no other option - no proven treatment.

Then I asked if she was going to die. I knew the answer even before the question left my lips. Terminal - life expectancy 10-15 years.

What about Oliver. Again, I knew he had it and 4 very long weeks of waiting confirmed it.

They wanted to take a skin sample for further testing. I remember Matt holding Waverly as 2 doctors numbed Wavey's arm and then took a metal instrument that cut a perfect circle of skin, leaving behind a scar that I still touch and kiss each time I see it. I remember how much she cried as they peeled it off. The tears in Matt's eyes watching his little girl in pain, becoming more and more aware of what the rest of her life would look like.

 Leaving the hospital is a blur. The only real memory I have is driving back up to my mom's house where we were staying at the time. From the back seat Waverly started singing "If You're Happy And You Know It". We simultaneously started laughing and weeping. The joy of the moment and the pain of our new reality.

Wednesday, March 13, 2013

Sweet Frog Fundraiser

Local friends, please join us this Saturday 3/16 at Sweet Frog in Fairfax for a Sanfilippo fundraiser. They have the best frozen yogurt and a percentage of your bill will be donated to the MPS Society for Sanfilippo research.

Tuesday, March 12, 2013

A Spring-like Day

We had a beautiful weekend here in DC. The sun was shining and it finally provided us with an opportunity to take the kids outside for some warm fresh air. For all of my complaints about living in this area, I truly enjoy the city and all it has to offer. We walked along the National Mall - Oliver loves to kick his feet along the gravel walkways. Oliver was very excited to ride the carousel and after his turn, their workers there gave him a second ride for free given how much he loves it.

Ride 4 Life

Our very dear friend, Paul, is going to bike 1000 miles from Namibia to South Africa beginning next week. He and 2 friends are riding to raise money for Sanfilippo research. His 2 children are pictured above, along with Waverly & Oliver. Please consider following their journey on facebook or visit to donate. Thanks!!!


We took the kids to Bobby's Burger Palace a few weeks ago. Oliver has *finally* started expanding his palate and open to trying new foods. He loved his cheeseburger and sweet potato fries.

Our Walker

(I am trying post the video, but having difficulty.)

Waverly started using a walker at school a few weeks ago. I cannot even begin to describe my excitement when she came *walking* down the hallway. Her aide is amazing and has been working so diligently each day to keep Wavey on her feet and mobile. She had been using her wheelchair as a walker of sorts, with Waverly holding onto the handle bar. The PT brought in the walker, thinking maybe Wavey could try it and off she went. We are working with our equipment rep to purchase one that will offer a bit more support, since this one is very basic. It is incredible to see her have a bit more independence.