1. What is the Association for Creatine Deficiencies (ACD)?
To create a unified community, the ACD was established in 2012 by parents of children diagnosed with a Cerebral Creatine Deficiency Syndrome (CCDS). The association is dedicated to three different creatine disorders: Creatine Transporter Deficiency (CTD), Guanidinoacetate Methyltransferase Deficiency (GAMT) and L-Arginine: Glycine Amidinotransferase Deficiency (AGAT). Even though each disease is a little different, they are all connected to issues related to creatine, an amino acid that helps supply energy to all of the body’s cells. All CCDS patients have an error in their metabolism that interrupts the formation or transportation of creatine, impacting the body in numerous ways.
ACD’s mission is threefold: to provide patient, family and public education about CCDS; to advocate for early intervention through newborn screening; and to promote and fund medical research for effective treatments and cures. The association is dedicated to providing support for all CCDS families needing guidance, and they touch many people around the world. Their vision is to change the long diagnostic journey that typically occurs with a CCDS, shortening the time to treatment so all patients can achieve their highest potential. While CTD is not currently treatable, GAMT and AGAT can be treated with supplements, and with treatment at birth, children with these conditions can go on to lead normal lives, making newborn screening and early diagnosis critical. Early diagnosis is especially critical for GAMT and AGAT so treatment can begin immediately, and with CTD early diagnosis also benefits patients and families to end their search for answers, understand their child’s difficulties and help them with appropriate medical care and therapies as needed.
2. What are the symptoms of CCDS that patients typically face? What is their long-term outlook?
All three CCDS disorders have very similar symptoms that differ in severity among patients. They may experience intellectual delays, autistic-like behavior, hyperactivity, seizures, expressive speech and language delay, projectile vomiting in infancy, failure to thrive, gastrointestinal problems, muscle weakness, delayed walking, and other movement disorders.
The exact prevalence of CCDS is unknown; however, sources estimate that approximately 1% of individuals with intellectual disabilities of unknown origin may have a CCDS. These numbers are expected to increase as testing becomes more readily available and awareness among doctors increases.
While there is no cure for any of the syndromes, there are effective treatments for GAMT and AGAT that make the diseases manageable if appropriate therapy is given soon after birth. Unfortunately, some patients with severe symptoms require intensive care throughout their lifetime. Several exciting research studies are underway that may provide effective treatments, and the CCDS community is very hopeful that new advances will soon be made.
3. What are some of the biggest challenges patients and their families deal with who have a CCDS?
The long diagnostic process is a major challenge for families, as it often takes many years before the CCDS patient is accurately diagnosed due to the non-specific symptoms of the disorders. Patients are often first misdiagnosed with other conditions, which can delay treatment. For the two syndromes for which there are treatments, GAMT and AGAT, early diagnosis and prompt initiation of therapy are essential to achieve optimal outcomes. Unfortunately, widespread awareness and understanding of CCDS is lacking across the medical community, so most doctors and laboratories are learning about these disorders alongside patients.
The physical problems caused by a CCDS can be quite severe in some patients. The challenges resulting from muscle weakness and movement disorders can be daunting, and many patients require intensive physical therapy. Ongoing gastrointestinal problems can lead to feeding tubes, placing an added burden on caregivers who must prepare the liquid nourishment, administer additional medications and maintain the equipment.
Emotionally, day-to-day life can be very challenging for families, due to the lack of communication and behavioral issues caused by intellectual disabilities and speech delay. Many CCDS patients cannot express themselves and easily become frustrated. Parents of adult CCDS patients must also deal with the complex and emotional issue of developing long-term care plans. Understandably, many are fearful of what the future will hold.
Some families also have financial difficulties, as the creatine supplements many patients need can be expensive and are often not covered by insurance because they are off-the-shelf products.
4. What resources does ACD offer patients and the medical community?
ACD has a comprehensive website with many useful resources for families. For instance, a series of essays, called “Creatine Decoded,” presents scientific information in a more understandable version to help families comprehend the disorders and the research in progress. Additionally, webinars are held on helpful topics, such as how to read a genetic report. Information is also available on special technologies that can assist CCDS patients, such as sensory stimulation products, along with links to various organizations that offer support and outreach to parents and families of children with disabilities.
The website also provides access to the CreatineInfo Registry for all CCDS patients worldwide. Created by ACD and hosted by the National Organization for Rare Disorders (NORD), this patient-reported registry and natural history study is designed to further research and empower the CCDS community.
Links to supportive services, along with legal and advocacy resources, are also offered by ACD, as well as a Facebook family and caregiver support group. Additionally, information is available for clinicians to help them better understand symptoms, screening and diagnostic indicators for CCDS.
5. What outreach activities does ACD use to connect with CCDS families and other stakeholders?
The organization maintains a strong social media presence on Instagram, Facebook, LinkedIn, Twitter and YouTube, reaching out to the worldwide CCDS community. ACD’s website events page also lists upcoming and past events and is a good resource for families to find out what is happening in their area.
Each summer, ACD sponsors The Walk for Strength, the biggest event for the organization held simultaneously in various cities around the world. Patients and families can connect with one another, while raising funds for the organization.
ACD also holds a patient and scientific symposium every year: the Cerebral Creatine Deficiency Syndromes Conference. The goal of the meeting is to share the latest CCDS research and to broaden the research network by encouraging early career researchers to explore CCDS. Talks cover a variety of topics, such as natural history data, the role of mutations, gene therapy and other new directions for treatments. Attendees include researchers, scientists, medical professionals and industry stakeholders, as well as CCDS families. This is a powerful event that connects the brightest minds in the field, helping the CCDS community make great progress each year.
6. What volunteer opportunities are available with ACD? How can people support the organization?
ACD is always looking for volunteers. Community members can join various committees, such as fundraising, grant writing, research, advocacy, community outreach and communications. Employers can also match volunteer hours. Additionally, families of patients can volunteer to help organize a local Walk for Strength event or share their experiences on various blogs.
Donations are always welcome. People can also support the organization by purchasing CCDS awareness merchandise on ACD’s website.
7. Where can patients and families get the most up-to-date information on new advances in CCDS?
The CCDS community can access the most current information about these disorders on ACD’s website. The news page on the website contains news articles, press releases and announcements about research, development of new treatments and other topics of interest. The organization’s Facebook page is also a good source for the latest news.
8. What closing thoughts should readers remember?
Getting a CCDS diagnosis is often very challenging. If the symptoms a child is experiencing sound similar to those of CCDS, it is important to make sure clinicians check for these disorders as soon as possible by screening blood and urine levels of creatine and GAA. This will ensure treatment begins promptly, giving the patient the best chance for an optimal outcome.
While living with CCDS is a difficult journey for families, there is much hope for the future. Thanks to the large volume of promising research now in progress, new treatments and cures could come soon from a variety of different avenues currently being investigated.