July 25th, 2010

As part of my involvement as a CTX patient advocate, I will do a Google search periodically for CTX to see if any new research articles have been published. The goal of this is to locate potential resources or advocates in the medical community who may be able to contribute to helping us accomplish our continually growing list of goals for CTX patients with a diagnosis and for those yet to be diagnosed.

The other day I was doing just this and to my surprise happened across an article by Fernando Quintero published on April 4th, 2010 in the Orlando Sentinel. The article highlights a dermatologist, Dr. Michael Steppie who was in New Orleans at the time a family came to him presenting with Xanthomas on a woman, her sister, and her cousin. Dr. Steppie performed an examination and determined that the xanthomas were not characteristic of a common cyst that he typically sees. He enlisted help from a researcher who sent him numerous articles on CTX. It didn’t take long for Dr. Steppie to surmise that he was likely looking at a set of CTX cases. Dr. Steppie contacted Dr. Salen and a CTX diagnosis was confirmed in the 3 individuals. There was a video segment filmed to with the article that I assume aired on a New Orleans news channel, you can view the video segment by clicking here.

This experience drove Dr. Steppie to want to be a patient advocate and realize the need for patient and physician education about CTX. To that end, Dr. Steppie has filmed a segment for Mystery Diagnosis! That’s right, there will now be TWO separate segments about CTX on the Mystery Diagnosis show. This may be first, I am not aware of any other disorder that has had 2 segments filmed for the show. This is outstanding news and I am pleased to see that the producers of the show are able to see the importance of raising awareness about CTX to have filmed two separate segements about it. I am quite excited about this and anxiously await the first airing of the show which will be on airing on Monday August 2nd at 9 p.m. on the Discovery Health Channel. Be sure to check your local listings to make sure you don’t miss it. Here’s the description of the show:

Mystery Diagnosis

The Girl Who was Covered in Bumps


Holly experiences horrifying pain that coincides with her menstrual cycle, will this threaten her chances for having children? Then Tina is struggling to keep up in school. Life gets worse when disfiguring growths start to form all over her body.

For those who haven’t seen the segment that Angie and I filmed for the show, you can view it by clicking play on the video above.

I have reached out to Mr. Quintero and to Dr. Steppie to open a line of communication and to ask how Dr. Steppie may be able to contribute as a patient advocate in the field of Dermatology. I admit that I had not thought of the Dermatology field as one that would see, nor assist in getting a diagnosis for a CTX patient. It just proves that no stone should be left unturned when it comes to CTX.

Work continues on developing a newborn screening test for CTX. A couple of weeks ago I spent an afternoon with Dr. Andrea DeBarber and was able to get a glimpse into her world and her work on this important facet of this disorder. She continues to amaze and impress me with her dedication and skill as a researcher. I am very fortunate to know and have people like her on my side in this fight. Thank you Andrea.

Lastly, I want to just say a big thanks to Manchester Pharmaceuticals and Centric Health Resources for all they’ve done so far in helping the patients and families in getting medication and keeping it coming on a regular basis. I know I speak for everyone when I say that this has been a huge relief in managing the care of those in our lives affected by CTX.

That’s it for now, I’ll post more as new developments occur with Dr. Steppie.

Posted in Updates.