Hope’s journey

Like so many little kids, my daughter, Xochitl Hope Salas, loves pretending to read Dr. Seuss’ books, watching her favorite movies - Finding Nemo and Ratatouille - and splashing in water. However, unlike those kids, my daughter is a 15 year-old high school student with a mind of a two-year old.

I am a single mother to three beautiful daughters and Hope is my youngest. Hope was born five weeks early and had several breathing issues including asthma as an infant. By her first birthday, it was obvious she was developmentally delayed compared to other children. For example, she didn’t learn to walk until she was three.

When she was four years old, Hope had a severe lung infection that landed her in the emergency room of Texas Children’s Hospital. We were lucky to get her in to the ER in time to save her life. She could not open her eyes for days and was in the ICU for 10 days until she was able to breathe on her own.

Those were some very hard days for our little family. I have always had to work long hours to be a good mom and dad to my girls. During those difficult days, I felt very blessed and thankful for my older daughters. They have always loved their little sister immensely and have been wonderful caregivers, even when I was away at work. They have been my pillars of support through our family’s medical journey with Hope.

As Hope grew older, she learned small words and phrases. While she could never hold a conversation, she would find creative ways to convey what she was thinking. Like one day, after pointing to my smartphone many times, she finally said, “Say cheese.” I realized then that she wanted me to take her picture.

When she entered her teenage years, her inability to talk or express her thoughts and feelings frustrated and agitated her a lot. She would frequently hurt herself and us. Her sisters and I continued to love her a lot but we felt helpless. 

So, we finally decided to seek the help of child psychiatrists/psychologists at Texas Children’s to deal with her temper issues and to help her find better ways to communicate. I am extremely grateful for the amazing doctors who counseled and treated her so well that now she is able to express herself better and has reached a point where she is not hurting herself or us as much.

About a year ago, we were connected with Dr. Christian Schaaf, a geneticist at Texas Children’s and investigator at the Jan and Dan Duncan Neurological Research Institute, who is an expert at finding novel genetic mutations responsible for previously unidentified neurological disorders. His team performed exome sequencing on Hope’s, her dad’s and my DNA. They found that Hope had a spontaneous mutation in the SON gene, which was most likely the cause for her developmental delays, autism, and speech impairment. 

Receiving this diagnosis has definitely eased my concerns that she may have genetically inherited it from her father or me. I have also been able to breathe a huge sigh of relief knowing that my other daughters and their future children are not at risk of inheriting this condition.

I am hopeful that with the rapid rate of advances in medical research and technology, my Hope and other children like her, will have a cure in the near future. Someday, I hope my dream of having endless conversations with my daughter about her thoughts, hopes, fears, and desires will come true.