By: Jana Johns

Kenzi and our family traveled to Houston to the Texas Children’s Hospital SMS Clinic. It was very educational and worth the 8-hour trip plus stops. It was a fairly easy process to get started. I emailed the SMS Clinic at Texas Children’s in July and someone contacted me about all the information needed to get started. It took a couple of months to get the information from other doctors/specialists and school to get sent to the SMS Clinic. Once it was sent down there, we were asked if Kenzi would participate in the research study. Kenzi’s Grams and I did a conference call with the coordinator for the research study to discuss what was involved. I always like to have a second set of ears so I don’t miss anything. It was amazingly simple, a skin biopsy, blood draw, and questionnaires. The questionnaires I was able to do ahead of time and at my own pace. There were probably 10 questionnaires which some were really short and others were longer. It took about an hour to do all of them.

When we got to Texas Children’s, we got checked in and waited to do the skin biopsy and lab work for the research study before her other appointments. Once those were finished, we met with the geneticist Dr. Potoki and her colleagues. They were very knowledgeable and easy to talk to. We were able to get some valuable information on things to look for in the future years for Kenzi and the doctors we needed to start seeing for her eyes, orthotics, nutrition, etc. They were with us for about an hour and a half discussing Kenzi and the effects of the disorder. Then we met with Dr. Kaplan who is the sleep medicine doctor. I was pleased to find out we can start taking Kenzi off of a couple of the medicines she is currently taking. The one she is currently on for sleep is not a medicine to help keep her asleep. It will take some time to get her off of it but it will hopefully be worth it in the end. Dr. Treadwell-Deering, the developmental psychiatrist, was the next visit. She was very thorough in going over the medicines Kenzi is currently taking and why she was taking them. By visiting with her, we were able to determine there were several more medicines Kenzi could be taken off of. Dr. Treadwell-Deering and Dr. Kaplan are going to come up with a plan for how to stop these medicines and speak with Kenzi’s developmental pediatrician in Oklahoma about the plan. Kenzi will continue to see her regular developmental pediatrician, so we don’t have to travel to Houston but maybe every year or two. The doctors in Houston are willing to work with our doctors to be there to give guidance to help Kenzi now and in the future. It is a win-win for all of us.

Currently, Kenzi is the only patient with SMS her developmental pediatrician has. Unfortunately, we as parents are finding this is the case no matter where you live. As parents, we have to do what is best for our children, even if it means traveling 8-plus hours to see specialists. I am so thankful we did. We will be staying connected with Texas Children’s SMS Clinic. Hopefully, participating in the research study, it will help scientists to learn even more about this genetic disorder.

By traveling, Kenzi and family were able to experience some new things. Here are a few pictures of Kenzi’s first-time experiences as well as from her trip.

The PRISMS Clinic and Research Consortium (PCRC) is designed to expand the availability of comprehensive, clinically appropriate care for the SMS community. If you would like to know more about the SMS Clinics, click here .