Today, for International MPS Awareness Day, I'm handing the blog over to a mother whose daughter Waverly was diagnosed with the disease seven years ago. Shannon McNeil and her husband Matt learned, not much later, that their son Oliver, also, has the same form of MPS.
Waverly and Oliver have MPS IIIA, or Sanfilippo Syndrome, a recessive autosomal genetic disease. Children with Sanfilippo Syndrome are missing an essential enzyme needed to breakdown and dispose of long sugar chains in the body called mucopolysaccharides. also known as GAGs. Because these sugar chains cannot be broken down and disposed of they accumulate in the cells causing progressive damage. 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. And now, I invite Shannon to share from her heart a post she had written on March 20 this year.
7 Years
Today is the anniversary of Waverly's diagnosis of Sanfilippo Syndrome.
Seven years. Seven. Years.
I cannot believe so much time has passed since we were handed a few printouts and left with very little hope. Yet time is a funny thing and trying to remember life without the specter of Sanfilippo is growing more difficult. I struggle to remember the levity of living without the weight of a terminal diagnosis over our family.
Returning in my mind to that day sitting at CHoP, I cannot believe the way a brief meeting with doctors can be so transformative. I walked into the room as one person and left very different. It is so clear in my mind's eye sitting in the waiting room with Matt & Waverly for the test results. Following the resident into an exam room and looking out the windows. Seeing the neurologist come in with file in hand and a solemn look on his face. And then it happened.
Your child is dying.
No cure.
No treatment.
Her little brother may also have it.
Waverly was off to the side playing with the resident, who did a beautiful job keeping Wavey entertained so we could absorb the news. Smiles and giggles. Tears in the resident's eyes.
I remember wanting to scream. But tears came instead in waves of breaking down and then pulling myself together. Matt looked stunned.
They wanted to take a skin biopsy to determine what type she had. She still has a tiny perfect circle of a scar on her upper arm. A memento of that day.
Driving home and her little voice started singing "If You're Happy And You Know It" from the backseat. Blissfully ignorant of the horrible hand she was dealt.
In that moment I thought life was going to be horrible. That pain and suffering would dominate our children's short lives. And while they have had a difficult road with much more pain ahead, they are happy joyful kids.
Seven years is a long time for perspectives to shift. Waverly may no longer speak. She cannot eat. She can walk very short distances with full support, but is otherwise confined to a wheelchair. She is incontinent and needs help with all aspects of her care. However when she smiles she lights up a room. Her giggles are contagious. She will always reach for your hand and look deep into your eyes.
We find the little joys and delight in them.
Sanfilippo Syndrome is an awful disease that is slowly taking my children away. 7 years ago, I was capable of only focusing in on their early death. All of these years later I am able to focus on the moment. The waves of sadness come in slower intervals now. Although the depth of love I have for Waverly & Oliver is more substantial, so when the waves come they knock me around a bit more. I am stronger, more compassionate, more tolerant, more patient.
I would take Sanfilippo Syndrome away from them if I could. I would love to know what fantastic little beings they would be without the trappings of the disease. I wish they didn't have to experience daily pain and frustration. I grieve thinking about the way things should be. But I have learned to embrace the moment, celebrate the small things and be thankful for today. I am honored to be their mommy. My friends who no longer have their children beside them remind me to relish every second I am given with Wavey & Ollie.
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