Elisheva’s Story
By: Sharona, parent of Elisheva who has a CTNNB1 genetic variant
“I think she is a comfort for others who have younger once or who have recently been diagnosed, as they can see how much Eli has/is achieving, so it can encourage others not to give up and have faith.”
What is your family like?
We have 4 children, 3 boys and Eli (Elisheva) is our one and very special girl. We live in Windsor England.
What do you do for fun?
We have a sail boat, we spend most of our leisure time on the boat sailing in England but also we sailed to the Caribbean and the Baltics and the Mediterranean.
We are also a massive Marvel fans!
Tell us about the biggest hardship you face.
Before we make any decision, we always have to think ‘will Eli be able to cope’. Routine is very important for Eli’s stability so the slightest sudden change in routine can cause Eli serious anxiety and meltdowns.
What motivates you to participate in research? How has participating research been helpful for you?
There is nothing more in the world that we wish for than to find a cure for CTNNB1 mutation. It is in out personal interest and communal interest to be part of the research which could one day be life changing for Eli, our family and others like Eli.
How do you feel you are helping Simons Searchlight learn more about rare genetic variants?
By providing information about Eli, we are helping build a more accurate database of statistics from which researchers can use to study patterns and hopefully come to conclusions.
What is one question you wish researchers could answer about this genetic variant?
Originally, my biggest question was, this is condition recessive? having three other boys, I was worried about their future for when they want to start a family. Thankfully, I now know it is not recessive. I guess my next big question is, once there is a cure, will it give Eli a chance to develop like her peers? Will she ever catch up?
What have you learned about your or your child’s genetic condition from other families?
It is comforting to see that Eli’s symptoms are inline with others with CTNNB1 mutation. As Eli is one of the older ones in the group, I think she is a comfort for others who have younger once or who have recently been diagnosed, as they can see how much Eli has/is achieving, so it can encourage others not to give up and have faith.
If you could give one piece of advice to someone recently diagnosed with this genetic variant, what would it be?
Firstly, don’t listen to the doctors! They know a lot but it is still nothing compare to what there is to know. They are not God! I sat in front of the geneticist and neurologist when Eli was 2, I had to sit there and hear both of them saying to me that Eli will never walk or talk! Well, she is doing both! And she was not even diagnosed till she was 10! Secondly, and most importantly, have faith and bombarded your child with every conceivable therapy out there. For about 5 years straight Eli had, physiotherapy, occupational therapy, speech therapy, hydro therapy, horse riding, play therapy, music therapy, cranial osteopath and all other kind of other therapies that came our way.