- STXBP1
- Interviews
Cheri's interview
How did all start?
My daughter, Claire, began having seizures at 5 weeks old. She also had intrauterine growth retardation, so I had a feeling something was wrong when I was pregnant with her.
Do you already have a diagnosis? How long did it take you to get it?
Yes, STXBP-1. We got the diagnosis about 3 years ago. She had gone through several rounds of genetic testing before this, with no conclusive results.
For what medical specialties have you been treated? What has been the most useful specialty for your?
Neurology for seizures. Endocrinology for type 2 diabetes, hypothyroidism, and Polycystic Ovarian Syndrome. Pulmonary for reactive airway disease/asthma and repeated pneumonias. Podiatry for frequent sprains and broken bones. Urology for kidney stones and kidney infections. Ophthalmology for Sabril treatment.
All have been useful- the more information we share and take in, the better the treatment outcomes.
What has been the most useful thing for you so far?
The anti-seizure medications prescribed by her former neurologist, including Sabril. She prescribed this based on the genetic profile of STXBP1 and how GABA related meds help control seizures. Sabril made a big difference.
What have been your biggest difficulties?
Uncontrolled seizures, weight gain, side effects of seizure meds.
How has your social and family environment reacted? Have your social or family relationships changed?
My family is so supportive and wonderful. My new husband is wonderful and supportive. Everyone in our circle of family and friends would do anything to help Claire. She is adored by all who come into contact with her.
What things have you stopped doing?
For awhile I stopped going out as much as I would like. But in the past year, I have allowed others to help me more and to make sure that I usually get out for a night out with my husband 1-2 nights a week.
What do you think about the future?
I think Claire's brother and sisters will take care of her if I'm not here. But I worry that no one can take care of her like I do. She is my life.
So far, which years have been the best years in your life? What have you done during them?
All the years have been good. She is 22 years old and we have gone to Europe 3 times, the East coast when she was 1, Hawaii when she was 5. We just don't let having a child with a disability change our lives. We all deserve to have full lives, and we make adjustments to make sure Claire can go with us.
What would you like to do if you didn’t have your condition?
I would like to travel more. I don't feel like I can leave Claire more than a week at the most, and I need to be a 2-3 hour airplane ride away. So I could never go to Europe without her, but Europe is hard on her. We went this summer, and the flight and the cobblestones were a real problem.
If you had to describe your life in a sentence, what would it be?
My daughter Claire is the joy of my life and I am so blessed to have her.
Finally, what advice would you give to a person in a similar situation?
Count your blessings, look at the positives, take care of yourself.
