Hi everyone! I’d like to introduce you to my daughter Maddie. She is 16 years old, and we live in West Virginia.
Maddie was diagnosed with Sanfilippo 3a at 7 ½ years old. Our journey to this diagnosis was a long one in most perspectives. At the age of 3 Maddie was diagnosed with Autism and ADHD. We started OT and PT as well as speech therapy with her at this time. Around the age of 6 she started having seizures. This ultimately is what caused us to get the Sanfilippo diagnosis. While we spent a week in PICU genetics testing was done and 2 weeks later we heard MPS for the first time.
We told our family and close friends in person over the next few weeks and decided a post on social media would be the easiest way to get the word out. I remember saying that I just wanted everyone to know so they could get all of the “pity comments” out of the way at once.
Having the best family and community support was a god send. Everyone jumped to rally around our family and offer whatever support we needed at the time. These are the people that are still rallying with us today, 8 years later–helping us get Mason to and from school events or sitting with Maddie so we can do things that aren’t Maddie friendly as we say.
Maddie has a twin brother, Mason. He is the definition of a super sibling. He has always wanted to be involved from day one. We chose to disclose everything to him from the beginning. He has never been embarrassed or ashamed of his sister. He will explain her disease to anyone with a sense of pride that even though this horrible disease has taken hold of his sister he will always be there to spread awareness. Living in a small town has helped too. Everyone knows and loves both of them. As she has gotten older things in our lives have progressed with her. We now have enough medical equipment for our own mini hospital. Lol We’ve made some changes to our home to better accommodate her such as a ramp and larger doorways. All things that help us give her better care. Lifting 123lbs isn’t easy.
Having a child with a terminal diagnosis is a lot on anyone’s mental health. Some days you feel like you can conquer the world and other days you want to lay alone and cry until you have no more tears. Being a parent and caregiver requires a lot of just that, giving. It’s so important to take some time for yourself. It doesn’t matter if it’s a coffee or a bubble bath or maybe a trip to see your friends in another state, just do it!
That goes for dads, too! I grew up hearing “You’re always hardest on the ones you love most!” That about sums up a marriage of medically fragile children. Don’t forget those “couples” moments. I wish I had words of wisdom for all the newly diagnosed families. I truly do. All I can say is, take the help. My biggest regret is that I was so determined to do it all myself that I quickly burnt myself out. You want your child to have the best version of you. Letting someone pick up your groceries or running your other kids to practice doesn’t make you a bad parent.
Most people genuinely want to help and honestly don’t know how.
Maddie is now 16 and still fighting a good fight. She loves her brother the most out of all of us. Lol She loves Spongebob and people watching. The beach is her happy place. She still smiles when she knows she’s being completely rotten. And yes, she does know!! She is always living her best life. We hate the disease but love all those who have entered our lives because of it. We just take it one day at a time.
