Gwen is the mother of Claire and Lola, teenagers with asparagine synthetase deficiency or ASNS. Both Claire and Lola have microcephaly as a result of ASNS. Despite this, they have filled their family and community with love.
Finding Happiness and Joy
For Gwen and her husband, there was no cause for concern while starting their family. They had one boy, born typically. Gwen’s tests and scans all came back normal during her second pregnancy as well. However, when Claire was born, it was apparent something was wrong.
Gwen recalls, “There was no reason to believe anything was going to happen. I had a pretty uneventful labor, and she was born, and instantly everyone freaked out…they were pretty concerned and called in all the specialists to give her a thorough exam.”
“It Happened Again”
Doctors were unable to find the cause of Claire’s microcephaly and assured Gwen and her husband that there was a 25% chance of it happening again. Confident it wouldn’t happen again, they got pregnant.
At first all of the scans came back normal. It wasn’t until she was 22 weeks pregnant there started being concerns. When Gwen was 26 weeks along, they confirmed microcephaly for Lola, her unborn child. Claire had this to say about it, “I don’t know if I’ve cried as much in my whole life as I did those 24 hours after Lola was diagnosed. It just felt so unfair to have to go through it again..we really, truly thought we had a 75% chance or greater that everything would be fine.”
Even though her obstetrician didn’t push for termination of her pregnancy, he encouraged Gwen to look at all her options. Gwen recalled what happened, “I just remember going back to my OB who said, ‘you guys have been through an awful lot. Look Gwen, you have options, and I’m not going to judge you guys whichever option you take, but I would encourage you to check out every option.’…and I did exactly what he said.”
Gwen did her research. She talked with people who had been through similar situations, visited websites, and read testimonials. She said the following, “Who am I to play God? I was given this child for a reason; why am I to change this path?”
She chose life! A decision to this day she would choose over and over again.
Finding the Reason
It had taken years to find the reason behind Claire and Lola’s microcephaly. After sending blood into different research hospitals, they finally had a definitive answer. Her daughters have Asparagine Synthetase Deficiency or ASNS.
Since getting a diagnosis, Gwen has created a Facebook page. This page has helped other parents connect and find support in each other. Gwen had this to say, “It has been really neat to connect with these other families and see the similarities..How nice is it to know another family who understands what we are going through.”
Sleep is Hard
When asked what some of the challenges for Claire and Lola are Gwen mentioned a few things. The first being the ability to control the girls’ seizures and the other is sleep. “I can’t say that nighttime is normal because they don’t sleep steadily.” Gwen said. Lola requires constant supervision while sleeping. Usually there is a nurse who stays with her to help monitor her sleep and seizure activity.
“Typically Atypical” Life with Medically Complex Children
“There is nothing typical about any of my days, nor are any two days the same..the tricky part is we have PT, OT, speak technology and we have a vision therapist who comes and two teachers who come, so that’s like seven people who are trying to come Monday-Friday every single day.”
“We try to squeeze stuff in for our son. A lot of times in the evenings he’ll have basketball games or practices, or we go with him to the gym..we try to have as much normalcy for him as we can. We’ve always tried to do that. We are a pretty close knit family; we just like spending time together.” Gwen said.
“Life is Special and Perfect and Wonderful Exactly the Way it Is”
Gwen had some great advice when asked what she would say to a parent facing a similar diagnosis. “It’s scary as hell, I’m not gonna lie…I wish someone would have told me that back then, that I could still be happy, and that I could still find joy in the life that I had”
“I just wish that somebody had told me in the beginning..that life is special and perfect and wonderful exactly the way it is. Having these kids and thinking outside the box and not doing things exactly the way that you would with a typical child is basically upping your mommy game; it’s making you a better person, making you stronger, uniting your family… I just really want people to know that they can do it and that they just need to believe and love and find joy in every single day.”