By: Berni, Parent of Tristan, a 23 year old with a GRIN1 genetic change
“You are your child’s best advocate.”
What is your child’s relationship like with his/her siblings?
Tristan is the youngest by 12 years. His brother lives in California. His sister now lives in Media, PA after being out of the area for a number of years. He and his sister are very close.
What does your family do for fun?
Tristan loves the water. We go to the beach and we have a pool in our yard. Tristan goes wherever we go. We go to museums, Broadway shows, light shows, family gatherings, etc.
Tell us about the biggest hardship your family faces.
The daily fights. Fights with schools, government agencies, insurance companies, medical device companies, etc. It adds a layer of exhaustion to the already difficult days.
What about your child puts a smile on your face?
He is tenacious. He keeps trying. His infrequent smiles light up the day.
What motivates you to participate in research?
Tristan is almost 24. He wasn’t diagnosed until he was 19 and 1/2. We have always felt that like everyone else, Tristan’s life needs to have a purpose, a legacy. Participation in research is his legacy.
How do you feel you are impacting our understanding of the genetic changes being studied in Simons Searchlight (16p11.2, 1q21.1, or single gene changes)?
Doctors and clinicians spend a very limited amount of time with Tristan. They cannot know his daily struggles, triumphs, symptoms, likes, dislikes, etc. I think that interaction between professionals and families completes the picture.
What have you learned about your child’s condition from other families?
There are so many things. Behaviors that we have seen with Tristan over the years, that we were unaware happened in other children too – leg flapping, dislike pillows and covers, don’t like things touching their palms, CVI, especially that I wasn’t the only one who hadn’t had a full night’s sleep in 20 years.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
You are your child’s best advocate. Keep going until you find the team that best suits your child’s needs. Professionals don’t know everything. Make sure they listen or find someone else who will. Breathe – this is a marathon, not a sprint. Be prepared, especially if you are a young parent. People will leave your life. They have trouble knowing what to say or do, so they leave. You will find out over time who you can count on.
What is one question you wish researchers could answer about your child’s genetic change?
Tristan changed at 5 months of age. He lost 1/3 of his body weight in 30 days. We were told that he most likely wouldn’t make a year, then 3, then 5. We finally told his team that Tristan would set his own path. I had a lot of questions then, now, not so many.
Is there anything else you would like to share with other families?
Check out Grin groups on Facebook. We are out there and we are a family of warriors.