- Current Age:
- Home State:
- New Hampshire
- Diagnosis Date:
- December 2, 2013
- MPS/Sanfilippo Type:
- MPS III-A
- Breanna Smith, Derek Cochrane (passed away), Kyle Davis (step father)
- Rhythm (5), Deklan (10) Ireland (7)
What it felt like when we learned our child has Sanfilippo Syndrome…
After seven years of appointments, tests and the unknown, I will never forget the very moment I got the answer that no parent could be prepared for. It was 9:02am and I can still feel the breath being taken from me, learning that my child’s life would end far too soon. It was already a challenging time for Tosh and I; six months prior to this Tosh’s dad unexpectedly passed away. It was beyond devastating to know that the life I envisioned, the dreams I had for me son would not be. Throughout that difficult journey and today, we are blessed that have family members, friends and Tosh’s stepfather by our side.
WHAT OUR CHILD LOVES MOST IS…
Tosh loves Trains, cars, and emergency vehicles, and all things Disney! He loves to play outside. We spend a lot of time in our giant sandbox, on hiking trials and in the water as much as possible. Tosh loves music, mostly Bob Marley, we spend most mornings singing and dancing. He is the best snuggler and loves to laugh.
How has Sanfilippo affected our child?
Sanfilippo had changed so much with Tosh. As a baby his development was normal, hitting all the milestones. He walked really early; started speaking at an appropriate time and was potty trained by the time he was two. Then, one day he stopped talking and did not speak again until he was 4. Over the next few years Tosh made strides and his vocabulary increased. However, over the past year he has lost most of his speech again and only has about seven words he uses. His walking is unstable, he can no longer ride his bike, and most of the time needs assistance to keep his balance. In the past year I have noticed a significant decrease in his cognitive awareness and there are some days I am not sure that he even knows where he is. His behavior at times is so difficult to handle that it’s hard to leave the house, have company or attend nearly as many outings as we have in the past. For Tosh’s safety we have had to “baby proof” our home something I never thought I would need to do for my 10 year old son. I can see such huge changes in his body and mind; however I am grateful to say he maintains his beautiful spirit.
How has Sanfilippo affected our entire family?
Our whole families’ outlook on life has changed. When faced with challenges we see an opportunity to teach love and understanding or a chance to forgive and move forward. We realize there are no guarantees in this life and we have to live for today… I see this perspective adopted by my other children however I also know they have had to accept the reality of losing their brother; something no child should have to process..
We don’t go to public places as often and I have had to limit the amount of work I can do outside of the home. My whole family, the children included, have learned to become caregivers, assisting Tosh with his needs but also recognizing that we all have needs. We have learned to give up some things that we wanted to do because Tosh physically cannot. Sanfilippo is a teacher from which we wish we didn’t have to learn, but we do.
The hardest part of being a Sanfilippo parent is …
The challenges for me being a Sanfilippo parent is knowing that I might not be able to see my son graduate 8th grade, high school, or go to prom. Knowing that I will not be able to see him get married, I cannot dance with him at his wedding and I will never see him have children of his own. The hardest thing is knowing we are a part of Hospice and he is only ten years old. Watching my son slowly lose all of his functions and suffer from pain is a burden I never imagined. It’s difficult to know that there are other families going through the same thing and we cannot save them. The constant range of emotions every day, the feeling of the constant unknowing what might happen throughout the day or night is more than overwhelming.
The biggest misconception people have about being a Sanfilippo parent is …
I remind myself multiple times a day to be positive and grateful; I wake up with a smile even though my heart is crumbling. It’s hard to express to people that I have to maintain this perspective, yet I am constantly hurting and grieving. As a mom I want to provide every possible experience to my children and its painful to have to say no sometimes; to say no because Sanfilippo limits our abilities. Every moment of everyday I am working at being strong and brave and sometimes its misinterpreted; I still need support and kindness. Sanfilippo consumes my mind, actions and our daily lives. I may not be as strong or brave as everyone thinks; I am just a mother who wants to create the best life I can for all of my children.
If we could tell people just one thing about Sanfilippo Syndrome, it would be …
I am not giving up and will fight for Toshs’s life and all of the children affected by MPS until my last breath. Sanfilippo can happen to anyone’s child.
If we could ask just one thing from the world/people, it would be …
Creating awareness about Sanfilippo and all forms of MPS could give us the chance to find a cure or treatment! If Sanfilippo affected your child what would you do to try and save them?
Why are we asking you to donate to Cure Sanfilippo Foundation?
Our children matter! Everyone deserves to see their children grown into adults, to experience life, to have their dreams fulfilled. To have a treatment or cure for this silent life stealing syndrome would be the most amazing gift for the families fighting every day.