- Current Age:
- Home State:
- Ontario, Canada
- Diagnosis Date:
- Dec. 9, 2016
- MPS/Sanfilippo Type:
- MPS III-C
- Julie and Michel
What it felt like when we learned our child has Sanfilippo Syndrome…
Devastating – how could it not be? From that moment on, we knew nothing would ever be the same. To this day, it remains difficult.
The stark prognosis is not something you can (or should) envisage, but you somehow come to terms with an unimaginable reality.
You learn so much about yourself and others as it relates to the depth of human resiliency.
What our child loves the most is …
Skip-Bo, Crafts, the Food Network, Peppa Pig, cooking games on her tablet, Massive Hugs, High Fives, Taylor Swift, Birthdays, Playful Teasing.
How has Sanfilippo affected our child?
Charlotte’s development in early childhood had seemed relatively normal, but we were able to reinterpret the challenges we faced in hindsight as being part and parcel of the disease.
Between the ages of 5 and 7, the gaps became clearer as she started losing acquired skills. In short, Sanfilippo is progressively damaging every fiber of her being.
We are fortunate that she is physically robust. Mentally, she is sliding into what could be summed up as dementia.
She continues to be very communicative, but she is losing her ability to enunciate, to conjure proper sentences, and to draw from vocabulary she once possessed.
Interestingly, there is an aspect of her development that seems unaffected, her engagement towards others. Charlotte has the sunniest predisposition imaginable. She is fully invested in every moment and wants only to love and be loved, to laugh and make laugh, and also, to win consistently against you at SkipBo.
How has Sanfilippo affected our entire family?
It has brought us together in ways we could only have dreamed. Although it is challenging, caring for Charlotte is intensely rewarding. It has naturally forced on us an appreciation for simple things, for every single day. We have lost all appetite for petty squabbles. We are in lockstep with our broader family, caregivers, teachers, and community in supporting Charlotte.
The hardest part of being a Sanfilippo parent is …
We must face a future that only promises to bring more setbacks as it relates to her overall health, more adversity, which is in and of itself not for the faint of heart.
We fear the unknown like all Sanfilippo parents do. In practical terms, from day to day, the most difficult part is to contend with her inability to contextualize and rationalize.
We struggle to navigate daily constraints, but we adapt. More than anything, we have become zen masters, because that’s the best way to support Charlotte. We have learned to create ever-evolving strategies and to be patient ourselves.
If we could tell people just one thing about Sanfilippo Syndrome, it would be …
We encourage people to create awareness. Simply sharing the notion of Sanfilippo Syndrome with anyone has the potential to effect change. In understanding Sanfilippo, one also comes to understand the implications of genetic science. A sea of change is visible on the horizon with treatments that require the mobilization of our greatest efforts and greatest minds.
If we could ask just one thing from the world/people, it would be …
To be compassionate of everyone. To be grateful for everything.
Why are we asking you to donate to Cure Sanfilippo Foundation?
So that one day, treatment will become an option. So that eventually, a cure will be discovered. We simply need hope. Knowing that efforts are being made makes all the difference.