By: Scott, Parent of Preston, a 5 year old with a TLK2 genetic change
“Never stop learning…ask questions, talk to as many people as possible”
What is your family like?
I have a very loving and generous family. I have a beautiful daughter (Lilly – age 13) & son (Preston – age 5). We live in the great state of New Hampshire in USA.
Tell us about the biggest hardship you face.
My son Preston was diagnosed with TLK2 when he was 3 years old. This genetic disorder has severely effected his development and at this present time he is completely non-verbal. It’s been a real struggle adjusting to life with a child that has special needs – so I would characterize this as my biggest hardship I have had to face.
What motivates you to participate in research? How has participating in research been helpful for you?
It’s an opportunity to learn more about my son’s genetic disorder as well as contribute to the study of this genetic disorder with hopes of one day to find a cure.
How do you feel you are helping Simons Searchlight learn more about rare genetic changes?
By allowing research to be done on my son’s current genetic disorder with hopes to one day find a cure.
What is one question you wish researchers could answer about this genetic change?
What is the life expectancy of someone with this genetic disorder?
What have you learned about your or your child’s genetic condition from other families?
I have learned that there is really not many people out there with this genetic disorder (TLK2) thus causing little to be known in regards of symptoms, treatment etc. I have been able to get a feel of what our life may look like in the future in talking with families with older children; which has helped with preparation and planning.
If you could give one piece of advice to someone recently diagnosed with this genetic change, what would it be?
Never stop learning…ask questions, talk to as many people as possible in regards to this disorder – whether they be people currently living with this genetic disorder or medical professionals that specialize in it as well.