Help us reach our family's $5000 goal!
Meet Meg and Daniel,
This year we learned that Meg and Daniel have had a rare genetic disorder since birth – Creatine Transporter Deficiency. This provides some answers as to why Daniel was non-verbal and why his seizures were not controlled. Also, why Meg has difficulty with auditory processing, and her seizures are not currently controlled by medications. We have learned that it affects a gene on the X-chromosome, which may be why it affected Daniel more.
We have connected with the Association for Creatine Deficiency to learn more and to connect with families. We are encouraged to hear that a lot of research is underway, which is not always the case with rare disorders. ACD has been leading the way in the fight against creatine deficiencies through research and encouraging funding for early genetic testing, which can make a huge difference for families.
In fact, since 2012, ACD has led the fight against creatine deficiencies. With **100% of Holiday Heroes donations being directed to research**, your participation in this campaign is crucial in helping ACD continue that fight.
As we continue to support these efforts, we are reminded of Meg’s high school senior quote from JFK: “One person can make a difference, and everyone should try.” So we’re going to keep trying.
Your Holiday Heroes Donation Supports Research
UC Berkeley
1-year research award to accelerate the development of a novel method to deliver a key enzyme directly into cells to enable creatine production in individuals with GAMT deficiency.
Johns Hopkins University
2-year research investment to accelerate their work to deliver creatine to the brain, including to neurons, using dendrimer nanoparticles, without the need of a creatine transporter, to help patients with CTD.
Stanford University
2-year research award to build upon their work developing new ways to deliver creatine directly into cells without relying on the faulty transporter protein that causes CTD.
Ultragenyx
Investment in the clinical development of an investigational therapy for Creatine Transporter Deficiency (CTD) with a total commitment of $4 million as the program progresses.
Research Fellowship
Help us award our 6th year of research fellowships supporting 12 months of CCDS research for young researchers establishing their careers.
CTD Newborn Screening Research
Support assay development for CTD newborn screening technology enabling advocacy for early diagnosis of Creatine Transporter Deficiency.
