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.


Hi Shannon,

Thinking of you, Matt, Waverly & Oliver.


Julia said…

I honestly can not even begin to imagine the pain that that meeting brought you. I am tearing up at work just reading it. Hopefully like you said in your last sentence, that there has been joy along with the immense heartache you have felt these past 5 years.

Thinking of you!
Joanne Huff said…
Thinking of you all today, Shannon. Love, Joanne
Jan said…
Thinking of you and praying for all of you often.
Renee Little said…
As always, your heart on page is touching and so very genuine. Thank you for being open and thank you for sharing. Praying for strength and peace.
Kathryn said…
Praying for you guys.

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