CTX Patient Advocacy Board meeting in Chicago

This past weekend, I, along with Ashley had the pleasure of attending the first CTX Patient Advocacy Board meeting. In attendance were members of several CTX affected families, as well as members of the patient advocacy team, and medical science liaison team from Retrophin, Inc. The meeting was moderated by members of the Global Genes support organization. The meeting agenda included a disease overview, a scientific Q&A where families asked questions of Dr. Shailendra Patel who attended via teleconference.

Additionally there was patient and caregiver testimony and discussion about the various challenges that are presented with CTX. One thing that was further cemented was the broad spectrum of the genotype/phenotype relationship that the CTX affected individuals present. Despite being involved with and hearing stories from so many families over the 12 years that I’ve been involved I still learned a lot and gained a new understanding on some of the other symptoms that can be present but aren’t really documented in the literature or studies that pertain to CTX.

Overall it was a very successful meeting and wonderful to meet and spend the afternoon with several new CTX family members as well as seeing some that I haven’t seen in quite a long time.

I look forward to our next Patient Advocacy Board meeting.

New Facebook closed group

Just wanted to post a note to say that Bobbi, one of the members of the Inspire CTX community took the initiative to create a close Facebook group for us to communicate amongst ourselves in a more private setting. This has supplanted the yahoo group for communication because it allows us to be able to better vet the members, see who’s active in the community and it’s using a platform that most everyone is already using.

I have placed a link on the Links page of the site but you can also get to it here.

Thanks for reading and please join us on Facebook!

What’s new!

It has been quite a while since I’ve updated the site but that does not mean that there has been no progress on the various things that have been in the works for some time. First an update on the Newborn Screening research. I am very pleased to say that through the hard work of Dr. Andrea DeBarber as well as contributions and financial support by many others, that this Summer, CTX will be submitted to the National Newborn Screening program. This is a huge milestone and has been a long time coming. It’s far from a slam dunk however as there are many criteria that must be met for it to be considered but we will continue to work towards this goal until we are able to achieve it. One of those criteria is disease prevalence, of which there has yet to be any definitive numbers researched or published that have definitively determined the prevalence of CTX.

To that end, as I mentioned in my post in April of last year, Retrophin has been funding a prevalence study, some of which includes working with Pediatric Ophthalmologists to go back into their archives to submit children who’ve been seen with unexplained cataracts for testing for CTX. This will greatly contribute to helping to determine prevalence of the disease. To read more about this study, including how to participate, click here.

CTX Prevalence Study Kickoff meeting

I was invited to attend a kickoff meeting for a CTX Prevalence Study that is being conducted by Retrophin, Inc. on Thursday, March 26th.  I spoke at this meeting to the Ophthalmologists in attendance to provide an example of a patient/caregiver’s experience of the diagnostic journey and to highlight how key the role that Ophthalmologists play in helping to identify potential CTX patients. There was some great dialog pertaining to the various parameters of the study and I am confident it will go a long way to not only potentially identify currently undiagnosed patients, including those who’ve already had cataract surgery and did not go for further screening, but will also help to identify those who may find themselves in the Ophthalmologists office with cataracts and possibly CTX.  I learned in my visit to Salem that disease prevalence is a key criteria when it comes to identifying and approving a test to be implemented into the newborn screening program.  I also picked up some literature that Retrophin developed, one of which is an article titled ‘Ophthalmologists and Cerbrotendinous Xanthomatosis (CTX): Making the Diagnosis.  The other is a two page breakdown of the disorder, symptoms, etc.  I am awaiting electronic copies of them at which point I will post them to the site in the links section.

Additionally the 41st annual meeting of the American Association for Pediatric Ophthalmology and Strabismus was being held as well.  I attended a talk titled ‘Phenotype-Genotype Correlations in Pediatric Cataract, Including Conditions You Don’t Want to Miss’ where Dr. Arif Khan  and Dr. Elias Traboulsi were the speakers.  It was very interesting to learn of the other disorders that can cause pediatric cataracts.  Of course my favorite part was the section of the talk where Dr. Khan spent a considerable amount of time on CTX.  There were some good questions posed afterward and the and the turnout was great.  I estimate about 200 people were in attendance.

Retrophin had a booth set up at the AAPOS meeting hall:

Retrophin Booth

A few of us were able to get out and listen to some music and enjoy some of the sights and sounds of New Orleans:

Retrophin Crew

Everyone I’ve met on the Retrophin team has been great.  I am fortunate to know them and grateful that they include me in their endeavors to help CTX patients by educating physicians, raising awareness and expanding testing and treatment options for patients.  We have come a long way in the 11 years since Ashley’s diagnosis and it’s not without contributions from many people and for that I am very thankful.

Visit to State Capitol to talk about newborn screening

I went to our State Capitol on Tuesday, March 17th and met with the Representative from a neighboring district to talk about newborn screening, specifically for Vitamin D and for Krabbe. This was in support of two other families who contacted me and asked if I could attend.

Two heartbreaking situations. As is typical with Leukodystrophies, one of the famies has two children with Krabbe, one who was not diagnosed and is in the throes of the disease. The younger brother was diagnosed as a result of his brother’s symptoms, has had treatment and is doing great. She recently had an article published online about her family – Family’s Bittersweet Journey Spares One Son From Rare Disease, But Not the Other.

Overall the meeting went great and we managed to hijack a 30 minute slot into an hour and 15 minutes 🙂 I was able to give them a lot of information about CTX, mentioning that a newborn screening test is being developed and will have something to pilot in the hopefully not too distant future. I learned a lot about the process for sure which is good knowledge to have going forward and made a strong ally in the fight to get tests into the NBS program in Oregon.

He does have an uphill battle as the Chair of the House Health Care Committee does not see eye to eye on some of these initiatives, Krabbe being one of them. He says it’s too rare, the prevalence isn’t high enough. The individual I met with yesterday is going to use some of his peers to put pressure on him though to hopefully change his mind. So it’s good to know he’s willing to engage in that fight. I guess we can use our votes to change the situation if it comes to it though. Just have to convince enough people :). One thing is clear though, knowing the prevalence of CTX is key to pushing NBS with CTX.