Natural History Study: A Patient Experience

Behind the Scenes: Why I chose to join the Orphan Technologies Natural History Study.

The patient who shared their experience will remain anonymous to protect the integrity of the data collected by the Natural History Study for Cystathionine Beta Synthase (Classical Homocystinuria).

September 2017
On an early fall morning I sat in the activity room at work. There was a lot on my mind that morning, but the thing that was pushed to the forefront of my mind was the Orphan Technologies (now supported by Travere) Natural History Study for Homocystinuria. I had been considering it and thought about joining, but obligations at work made me question my decision. While I was sitting in there, I told my coworker Lisa about wanting to go to Atlanta. After she responded I decided to go ahead and join the study.

October 2017
As a patient I was genuinely frustrated with the lack of treatment options and the cost of the medications, so I sent an email to a contact about joining. The person responding pointed out that I was not in close proximity to a study location. The fact that this disease is so rare and that treatment options are so limited is part of why I chose to go ahead despite the distance it would take to get to Atlanta. I had experience traveling for medical care so traveling to a study visit was not an inconvenience, but an opportunity to give back. It was also a chance to travel and to get to know a place I had never been to. Before I joined the study, I had only been there in passing when flying and leaving out of Hartsfield- Jackson Airport, also known as ATL. After the first visit what was once foreign became familiar.

March 2018
March 9, 2018, was my first study visit, which was also known as the baseline visit. At this visit they started with blood work. The visit also included a physical where we discussed my medications and the way Homocystinuria has manifested. During this time, I handed in a three-day diet record which requires you to record everything you eat and drink leading up to the visit. The National Institutes of Health (NIH) Toolbox is a series of cognitive tests which was another part of the visit. Later that afternoon, I had an eye appointment where my eyes were dilated and evaluated. A dual -energy x-ray absorptiometry, also known as a DXA/DEXA scan was also performed to assess for osteoporosis.

September 2018
Six months later I went back Atlanta, or more specifically Emory. This time the visit was much shorter and consisted of blood work, a physical and the NIH Toolbox. That is a part of every appointment. Once a year they do the DEXA scan, and eye appointment. Through participating I know I have contributed and am grateful for the opportunity.

Note* Since joining this study, Orphan Technologies has been acquired by Travere Therapeutics