Meet our little butterfly Mateo and his beautiful family!
Dayna Gonzalez talks about a particular moment and memory in their story:
“Mateo's diagnosis took almost 4 years to get. We received his genetic testing results in May, and he turned 5 in July. We saw very early on that Mateo was not meeting typical milestones. He was having trouble holding his head on his own, not sitting up by 6 months etc. It wasn't until we had a new doctor for his 9 month well check that she set everything in motion for us. Early intervention is KEY! Without this we do not believe that Mateo would be able to do as much as he can now.”
Mateo is now 5 years old and was diagnosed with Lesch Nyhan Syndrome just 2 months shy of 4 years old. He loves spending time with his sister Kailey, and even though she is only 2 years old, nothing stops her from adventuring with her big brother!
What do you think other people should know about this rare disease?
Often in the literature, it states that those with Lesch-Nyhan syndrome are intellectually disabled. In no way do I believe this to be true. They do have physical and motor impairments that will affect coordination and speech, but that does not make them mentally deficient. From an early age we could see it in Mateo's eyes that he completely understood everything we were telling him, he was just not able to communicate back with us as his physical impairments did not allow for gestures and he could only babble. He is so incredibly smart, mischievous and he is soo funny! From the Facebook group of others that have family with this syndrome I see many of the same observations. Many people have stated that they can see their family members understanding through their eyes when they talk to them.
(Again, due to him having early intervention, now at 5 years old he can say so many words and is now starting to question everything out loud).
Describe your fondest memory as a family:
Our fondest memories are the trips we take together. We do Disney quite a bit and it never gets old! We also love zoos and aquariums. For Mateo's 5th birthday we did Myrtle Beach, and he absolutely LOVED it. We have also ventured into the North Carolina mountains and seen snow and even did the Linville Caverns. We believe we are never wasting money by traveling and making memories as a family.
What's your favourite movie to watch as a family?
What's your favourite activity to do as a family? Why?
Aside from traveling, playing video games! Mateo and Dad are both super into video games. Mom plays occasionally. Kailey is still too young to really grasp the concept, but that doesn't stop her from trying! We usually all get together and play just one level right before it's bedtime for the kids. It lets us bond and helps to instil teamwork in the kids.
What's your favourite family tradition? Why?'
Our annual family vacations! It allows us the opportunity to experience a new adventure together! Sometimes I can be hectic, but all the new things we get to see, and experience is wonderful! It gives the kids many opportunities to ask questions and learn new things!
What quote do you live by?
"Just keep swimming"
What does a day in your life look like?
Our life is pretty typical. During the week, we get up get ready for school. Pick up Mateo after school. Twice a week Mateo has private therapy for an hour and a half after school. Occasionally Mateo has specialist appointments we have to drive 2 hours to attend. Mom's work schedule changes but is usually weeknights. Dad gets the dinner and bedtime routine. The weekends dad works. On Saturdays we visit grandma! On Sundays we have our relaxing/rest day.