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.

Interview with Caring Voice Coalition

I did an interview with Robin Lawson from the Caring Voice Coalition. They are a nonprofit organization that supports patients with chronic illnesses through a variety of means, including issuing a quarterly Community magazine.  I was referred to them by some folks at Retrophin to do the interview to help raise awareness as part of a partnership to fund a free CTX testing program that will have some oversight or be fully administered by the folks at Caring Voice Coalition.

I’ve seen the draft and it looks great. I’ll link the article in a subsequent post once it gets published.

Updated site

I recently updated my site to bring a fresher, more modern look to it.  I have retained the content of the old site, and also have added a videos page where you can see the 3 videos that I know of that feature CTX.  Two of the videos are the segments from the show Mystery Diagnosis, one that we did that profiles our family, and one that features the Ankar family.  In addition, I added a third video that also profiles the Ankar family and Dr. Michael Steppie, a Florida dermatologist who helped the Ankar family finally find a diagnosis.  2 of these videos are being hosted on my About CTX youtube channel while one is being hosted on  You can watch them by clicking here or going to my youtube channel.

Lastly, I have added an e-mail contact form to the right side of the page.  This will make it easier for people to send me an e-mail straight from the site.

Retrophin Announces Acquisition of Exclusive Right to Purchase Cholic Acid from Asklepion Pharmaceuticals

This is certainly big news.  If my experience is any indicator, this will only serve to be a benefit to patients who are suffering from Bile Acid disorders.  URL and text from press release follow.

NEW YORK & BALTIMORE–(BUSINESS WIRE)– Retrophin, Inc. (NASDAQ:RTRX) and Asklepion Pharmaceuticals, LLC, a privately held rare disease pharmaceutical development company, today announced the signing of a definitive agreement under which Retrophin has acquired the exclusive right to purchase from Asklepion, all worldwide rights, titles, and ownership of cholic acid for the treatment of bile acid synthesis defects, if approved by the U.S. Food and Drug Administration(FDA). Under the terms of the agreement, Retrophin will pay Asklepion an upfront payment of $5 million and up to $73 million in milestones based on approval and net product sales, plus tiered royalties on future net sales of cholic acid. Retrophinhas secured a line of credit from current lenders to cover necessary payments.

“We are very pleased with this agreement, which has the potential to significantly accelerate Retrophin’s growth in 2015 and beyond,” said Stephen Aselage, Chief Executive Officer of Retrophin. “Cholic acid is a natural complement to our current commercial portfolio and upon its approval, Retrophin would be positioned to become the leading provider of bile acid treatments for a number of rare diseases.”

Mr. Aselage continued, “The effort by Asklepion and its investigators is a testament to their dedication and hard work in bringing an important medication closer to the marketplace. The disorders treated in their clinical trial are devastating and we are grateful to have an opportunity to address those patients’ needs.”

Cholic acid is being considered for approval in a late-stage review by the FDA and is currently approved in Europe for the treatment of inborn errors in primary bile acid synthesis. It restores endogenous bile acid pool levels while inhibiting abnormal bile acid synthesis. The clinical use of cholic acid has been documented in medical literature for several single enzyme bile acid synthesis defects since the mid-1990s.

“This agreement could represent a significant milestone for both our company and patients suffering from bile acid disorders,” said Gary Pasternack, Chief Executive Officer of Asklepion. “If cholic acid is approved, we are confident that Retrophin’s expertise in this area would allow for the greatest number of patients to benefit from this treatment.


Report from the ULF annual conference

I recently attended the annual ULF Family Conference.  In a historical precedent the conference was held this year outside of Dekalb, IL for the first time since the inception of the ULF.  The conference was held in Baltimore, Maryland from July 31st through August 2nd, 2014.  The turnout this year was the highest that I can recall in recent memory.  It was nice to see the upswing in attendance and I can only hope that it is a continued trend.

It was great to see everyone again, meet new folks, and re-connect with some that I haven’t seen in a while.  The venue was great and despite the added logistics of having it in a new location for the first time ever, Kirsten, Nancy, and the rest of the staff, board members, volunteers, etc. made it a tremendous success.  Early feedback from attendees is overwhelmingly positive.  The final night of the conference was capped off with a cruise around the Baltimore Inner Harbor where a great time was had by all.

I was also fortunate to meet the rest of the Medical Science Liaison(MSL) Team from Retrophin.  Like the rest of the individuals from Retrophin that I’ve met, I was left with a great feeling about the future for diagnosed, and yet to be diagnosed CTX patients.  They are as passionate as I am about raising awareness, diagnosis, treatment, and newborn screening for CTX patients.  I look forward to working with them in the future in whatever capacity I can to facilitate their efforts.