FAMILY STORY

Leah’s 16p11.2 Deletion Story

“Your child has a lot of potentials even with this disorder. Unless there are severe medical issues that require specific care, you can expect your child to move into life with a robust vitality.”


By: Kim, parent of Leah, a 20 year old with a 16p11.2 Deletion

What is your family like?

Family of 4 – Parents with two children. Our oldest daughter, age 20, has 16p.11.2 deletion, and our adopted son from Haiti is 12 years old. We live in Denver with my family – Father and siblings in Denver-Metro as well as some of my siblings’ children who range in ages 17 – 40 yo.

What does your family do for fun?

Travel, musical shows and theatre, motorcycle dirt biking, ATV, and baking. My son plays Elite soccer, so lots of soccer games and some travel for that. We love animals. We have 3 small dogs, 2 cats, and backyard chickens. We live in a GREAT neighborhood where we consider our neighbors as our family! We generally have quite a bit going on in our lives.

Tell us about the biggest hardship your family faces.

With regard to our daughter’s deletion syndrome, it is managing her epilepsy and ensuring that she will be financially stable.

What motivates you to participate in research? How has participating in research been helpful to you?

We’ve participated since her diagnosis at age 14 in 2015. Although saddened that she has a rare genetic deletion, I am fascinated by the research and felt it was very important to get involved to help research identify how these anomalies occur as well as support the health and well-being of those born with this deletion. I’m impressed at how much progress genetic research has come over her 20 year life-span.

How do you feel you are helping Simons Searchlight learn more about rare genetic changes?

By simply participating in the research. Being mindful to fill out the questionnaires as they come to us. I feel very strongly about that.

What is one question you wish researchers could answer about this genetic change?

What, if any, research have they discovered in what could cause these kinds of genetic disruptions. Theories? Seems to occur to people of all ages. I was 39 and my husband was 52 when we conceived, so I had often thought it could possibly be our older ages. But it doesn’t seem that way. Has there been any evidence suggesting that as a possibility or other new evidence that would suggest a “cause”? I believe the research has identified a link to epilepsy in children with 16p11.2 deletion. How has that research been furthered?

What have you learned about your or your child’s genetic condition from other families?

I feel fortunate. Fifteen years prior to her diagnosis we recognized a slight developmental delay when she was an infant. Her development was within normal range but always on the back-end and when it came to speech, she talked up a storm and had a lot of thoughts but her expression was challenged. We recognized early in her life there was something different and had her tested. We had/have the financial resources to support her special academic needs. Her learning disabilities are fairly mild, but to be sure challenged. She has some of the facial/body characteristics, but is very healthy from an organ and immune system standpoint. She does have well-controlled clonic-tonic epilepsy which was diagnosed in 2012, and only has 1-2 seizures per month. She just started a supplement medication which we believe is going to prevent seizures altogether. Epilepsy is her biggest concern about herself and can cause her stress. She has a bit of a weight issue as she’s only 4′-11″ and frankly does not eat very well. She is very bright, she drives, she rides motorcycles, she loves history, loves to read (loves her phone) and has a job which she is extremely responsible to/for. She’s a very good baker and plans to pursue that as a career through school.

If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?

Your child has a lot of potentials even with this disorder. Unless there are severe medical issues that require specific care, you can expect your child to move into life with a robust vitality and appreciation for the success of their own making and in their own way. As parents, we have certain ideals, wants and expectations for our child’s life (and Facebook hasn’t made it easy for those of us with a child who has learning disabilities). Embrace your child’s uniqueness and typical joyful personality as they are an important contributor to society and will have a future they can live into and certainly be proud of. I can’t tell you how many compliments I get for our daughter’s kindness and outgoing personality. She is a true gem!

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