Reflections on ribbon cutting at new Ultragenyx facility

by Karen Utley, IFCR President

Last month, Samantha and I were honored with an invitation from Ultragenyx to speak at a ribbon-cutting ceremony that celebrated the opening of their new gene therapy manufacturing facility in Massachusetts. I have spoken on behalf of our CDKL5 community many times and it is always humbling, but I was not expecting the flood of emotions preparing this particular speech would cause. I reflected on where our community started, when there was literally nothing being done to advance CDKL5 research, and now where we are. 

I was given an opportunity to tour the new facility. It was thrilling to see the equipment, speak to the brilliant individuals working and leading the efforts in the labs, and to see the excitement in each of them for the potential of the future. I spent the day in somewhat of a fog thinking, “This is actually happening. This is real.”  

I know we have a long way to go. There is still much work to be done, but this milestone event should show everyone that progress is being made! 

I hope you read my speech and feel inspired. As a co-founder of the IFCR, I am so proud of the work we have done, and I know we haven’t done it alone. Every supporter, every fundraiser, every family who has participated in research efforts, every patient who has enrolled in a clinical trial, every volunteer, and everyone who has spread awareness of CDKL5 – you are a part of the story of how we have gotten here. 

Our CDKL5 community has moved mountains. We are not done, but we can take a moment and be proud of where we are.  

Karen’s speech given on June 21, 2023 

“I cannot quite put into words what being present for this momentous occasion means to me. In 2006, when my daughter, Samantha, was born and her seizures began at 10-weeks of age, the diagnostic journey was long and stressful. At 20-months, when she was diagnosed with a mutation on the CDKL5 gene, there were no resources for family support, no treatment pipelines, and it felt like there was no hope.  

Today, I am here on behalf of the International Foundation for CDKL5 Research, witnessing the opening of a gene therapy production facility, and knowing there is a potential for a gene therapy to be developed and investigated in the CDKL5 community. It is almost unbelievable to me…and yet it brings me so much hope for the future of our community and chance for improved quality of life for our loved ones. 

We want treatment options that are tested and as safe as possible, and we want our community educated and empowered to make wise decisions if and when there are clinical trials. The Ultragenyx team has worked diligently to get to know our community and build a relationship based on transparency and trust. They have put in the time and effort to educate our community on the science discoveries and the continued development of potential gene therapy, while setting honest and realistic expectations. Kristin Voorhees and Dr. Heather Lau are always willing to discuss the needs of the community, and then they turn those discussions into action through educational efforts. We could not ask for a better partnership, and we hope everyone on the Ultragenyx team knows we appreciate everything you are doing. 

The importance Ultragenyx has placed on building a relationship with and understanding the community is not surprising if you have followed Dr. Kakkis’ career. His dedication to developing treatments for ultra rare diseases is continually lived out in all his efforts – from building Ultragenyx’s robust pipeline, to establishing EveryLife Foundation to advocate for policies which allow for faster drug development and access to approved treatments. 

This ribbon-cutting is another milestone filling the rare disease community with hope for the future. Thank you for sharing the moment with us. May this memorable moment lead to many more celebrations of successful trials and approved treatments!”