Laura’s Story

By: Luis, Parent of Laura, a 19 year old with an NRXN3 genetic change

” …the accumulation of empirical knowledge by parents of autistic children is very large, and the exchange of information between these families has been decisive.”

What is your family like?

My family consists of me (father), my wife, Sirlei Rosâni Sturm Vargas, and our daughter, Laura Sturm Vargas, who was diagnosed with Global Development Disorder – Autism at the age of two. Today Laurinha (as we call her) is 19 years old.

What do you do for fun?

Due to the great compromises in the social aspect of Laurinha, who finds it difficult to stay in places of public attendance, we also let her go on very long trips or going out to simply eat out or go to a cinema for example. Therefore, we try to relax or divert attention from problems with simple things on a daily basis. It is a difficult exercise, but we survived and I think we grew up with it!

Tell us about the biggest hardship you faces.

The biggest difficulty we feel is, first, practical: the difficulty that Laurinha always had (and still has) to start sleeping and, sometimes, difficulty to remain in quality sleep or for a more reasonable number of hours. This makes our rest, dignity and health difficult. When it comes time to sleep, Laurinha lights up, gets agitated, anxious and runs away from sleep, resists. We say that she behaves like a zombie, she does not tire and consumes us. Another thing that penalizes us a lot and the tendency to self-harm. It is very difficult to remain asleep, to see the daughter awake and, to bring more terror to the picture, it is a torment to see our daughter bite wrists, arms and pluck the skin from the legs with her own nails. At the moment, it seems, we were able to control self-harm with cannabidiol-CBD from the company Onepure. However, Laura’s sleep remains a struggle. I’ve read cases of autistic people with the same problems (insomnia and self-harm) that they managed to control with a CBD strain with THC. Finally, extremely alienating for us is the alienation of Laura. Imagine! She was awake at dawn and her eyes were a foot from a light, or from a granite sink or other surface for hours. The centers of interest of our daughter are the little films on YouTube from a cell phone, which she recognizes by the photos and chooses (she stays there, changing from one to another, sometimes she doesn’t watch any!). Another activity she enjoys is going out by car. It is very limited! She is not verbal and has a very limited understanding of everything. I’m almost sure that she has no concepts and basics, like day and night, chewing. For example, she does not blow her nose or spit when her lungs are congested.

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

We did the research of the complete genome of our daughter, through the T-Gen exam of the company Tismoo de São Paulo-BR. The result showed changes that are still unknown in the NRXN3 and EPHB2 genes. My question is whether there is therapy for these genes. If there is no therapy yet, we want to know if they are studying these genes as well and what is the chance of having a therapy within the next years?

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

So much! In fact, this aspect is something I want to highlight: the accumulation of empirical knowledge by parents of autistic children is very large, and the exchange of information between these families has been decisive. In this regard, I see more success in medical professionals who admit this, listen to what parents have to say, to inform, and decide together in an attempt to achieve more effective approaches. My wife and I started using melatonin for our daughter’s insomnia, when we realized that, in Italy, for example, this practice was already peaceful and without reservations. But we use it at our own risk (as we also did with CBD), because most doctors, when we talked about cannabidiol, seemed to hear someone who was proposing something absurd, illegal, sinful, in short, a lot of prejudice resulting from ignorance about treatments that they are not on the lists of pharmacies or in the (economic, not therapeutic!) interest of large and old laboratories!

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

Study, parents! Think with your doctors! Don’t settle! Do not intoxicate your children with the first drug you are offered and follow the research. Follow Dr. Alysson Muotri’s research and his team’s work in his research lab in San Diego-California!