Raising Awareness About Rare Disease
- In honor of Rare Disease Day, we’re highlighting Gaten Matarazzo – the 20-year-old actor who grew to fame from “Stranger Things” and is now a lead role on Broadway.
- Matarazzo is living with cleidocranial dysplasia, or CCD, a rare disease affecting the development of the bones, skull and teeth.
- Handling a rare disease can be very overwhelming, but SurvivorNet’s experts have guidance on how to seek out specialized treatment providers. The most effective place to start is often at academic centers and comprehensive care centers.
- The SurvivorNet Clinical Trial Finder, as well as Clinicaltrials.gov and PubMed, are great resources to use if you’re considering experimental treatment for your rare disease. These databases can also help you find doctors who specialize in your disease.
- Other options you may pursue include researching companies that are in the process of developing drugs to treat your specific disease and investigating the possibility of “compassionate use,” which makes drugs available to some patients before the drugs are officially approved.
The FDA reports that over 7,000 rare diseases affect more than 30 million people in the United States. In honor of Rare Disease Day, we’d like to bring attention to the 20-year-old actor’s journey with his own rare disease: cleidocranial dysplasia, or CCD, a rare genetic condition that affects the development of teeth and bones, according to the Genetic and Rare Diseases Information Center.
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He’ll appear onstage with global singing sensation Josh Groban, 42, and TV and Broadway star Annaleigh Ashford, 37.
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“I couldn’t be more stoked,” Matarazzo told Variety ahead of the show’s debut.
Despite being as busy as can be, Matarazzo has still worked to bring attention to CCD – a disease that’s required him to have four surgeries so far. He even helped found a nonprofit called CCD Smiles, which works to “[improve] the lives of people with cleidocranial dysplasia through connections, awareness, research, education and support.”
““My experience with cleidocranial dysplasia … it’s given me an opportunity to talk about it and not feel ashamed of it. I can still do the same things as many other kids and I can’t say the same about other people that have this condition,” Matarazzo told CCD Smiles. “Thankfully, my case is very mild, and I can live like a normal kid but not everyone that has the condition can, and that’s why I’m talking about it, because many people are not as fortunate as I am.”
He also credits “Stranger Things” creators Matt and Ross Duffer for helping him bring his condition into the script of the show.
“The segues into it are so natural,” Matarazzo said of his CCD being represented in the show. “It makes me emotional thinking about how weirdly accurate they bring it up every season.
“There’s always a little reference in a weird little joking manner. It’s the way I would joke about it with my friends.”
What Is Gaten Matarazzo’s Disease?
Cleidocranial dysplasia, or CCD, is a rare disease affecting the development of the bones, skull and teeth. It is a genetic disease – meaning it’s caused by one or more genes not working correctly – caused by a RUNX2 gene that is not working correctly.
Signs and symptoms of CCD may start to appear as a newborn. According to the Genetic and Rare Diseases Information Center, signs and symptoms of the disease include the following:
- Underdeveloped or absent collarbones (clavicles),
- Dental abnormalities
- Delayed closing of the spaces between the skull bones (fontanels).
- Decreased bone density (osteopenia)
- Hearing loss
- Bone abnormalities of the hands
- Recurrent sinus and ear infections
- Curvature of the spine (scoliosis)
- Osteoporosis, a bone disease that can increase the risk of fractures
- Shorter stature
Remember that the number and severity of symptoms experienced may differ among people with this disease, and the above list is not all-inclusive. Your experience may be different from others, and you should consult your primary care provider for more information.
According to Johns Hopkins Medicine, treatment for CCD varies from person to person depending on how the syndrome affects the patient. Recommended treatments might include:
- For children, facial reconstructive surgery on the bones of the face to reshape the forehead or cheekbones
- Spinal fusion procedures to support the spinal column
- Lower leg surgery to correct knock knees (knees that bend inward toward the center of the body)
- Surgical repair of fractures due to fragile bones
- Removal of small collarbone pieces that can affect the brachial plexus and cause arm pain or nerve problems
- Ear tubes to treat ear infections
- A protective helmet while playing sports to protect the open areas of the skull
- Calcium and vitamin D supplements to strengthen bones
- Orthodontics and oral surgery to address extra or impacted teeth.
Resources for People Facing A Rare Disease
With a rare diagnosis can come all sorts of feelings of anxiety, fear and loneliness. But it’s important to know you’re not alone. Below are some helpful resources for the many people affected by lesser-known or less-researched diseases.
Academic Centers and Comprehensive Care Centers
For some rare disease warriors, community centers provide great treatment options. But for people with rare conditions – cancer or otherwise – more specialized care may be required. In that case, the most effective place to find a specialist is often at academic centers and comprehensive care centers.
In a previous conversation with SurvivorNet, Dr. Kenneth Miller, director of outpatient oncology at the University of Maryland’s comprehensive cancer center, explained what differentiates a “comprehensive cancer center” from other treatment providers.
Seeking Care at a Comprehensive Cancer Center
“Pretty much automatically, there’s going to be a team approach [to your care],” Dr. Miller said. “Surgical oncology, medical oncology, radiation oncology, and all the support services—and also wonderful pathology and radiology.”
Dr. Miller added that at a comprehensive cancer center, all of these different specialists work together as a team to help you find the best course of treatment for your specific kind of cancer.
“We call it a tumor board—a group to go through all the details of your case… so you get a group of very smart people coming up with a plan together that is hopefully optimal and gives you the best chance of doing well.”
Clinicaltrials.gov and the SurvivorNet Clinical Trial Finder
Another place to turn to when you’ve been diagnosed with a rare disease and you’re considering experimental treatment or trying to find specialists is clinicaltrials.gov – a database maintained by the U.S. government that compiles privately and publicly funded clinical trials conducted around the world. Clinical trials, themselves, are research studies that compare the most effective known treatment for a specific type or stage of a disease with a new approach.
Clinicaltrials.gov can help you explore possible treatment options by looking at trials that are actively recruiting. The site also provides the information of some of the most specialized doctors in a specific field since they often end up leading clinical trials that advance our understanding of diseases.
By searching your disease on Clinicaltrials.gov, you will usually come across a list of many studies. The lead researcher will be listed under the heading, “Investigators.” Lead researchers in studies on rare diseases are typically doctors who have specialized in the study of that condition.
Meanwhile, SurvivorNet has a new A.I. driven tool built on top of clinicaltrials.gov called the SurvivorNet Clinical Trial Finder. This user-friendly tool is updated daily and gives users access to more than 100,000+ individual clinical trials to help them find treatment options.
Clinical Trials Can Be Life-Saving for Some
To use the SurvivorNet Clinical Trial Finder, simply answer some basic questions using our custom-designed chat feature and we’ll send customized clinical trial options within your region right to your email. In simplifying the search, we hope to offer multiple opportunities for clinical trial sponsors and clinical research organizations to engage with patients.
“Clinical trials are critical to the development of new therapies, and as we live through this extraordinary revolution in genomics, immunotherapy and targeted therapy, it’s clear that one of the most pressing needs for patients, clinical trials sponsors, and researchers is simply a better way to find patients,” SurvivorNet CEO Steve Alperin said. “Even one percent more people successfully enrolled in clinical trials can change the world.”
Dr. Beth Karlan, a gynecologic oncologist with UCLA Health, previously told SurvivorNet that clinical trials can be play an important role for some patients’ treatment, but they also serve a larger purpose.
“Clinical trials hopefully can benefit you, but is also providing very, very vital information to the whole scientific community about the effectiveness of these treatments,” Dr. Karlan said. “We need everyone to be partners with us if we’re ever going to truly cure cancer or prevent people from having to die from cancer.”
That being said, it’s important to remember that clinical trials aren’t for everybody. And going into a study does not necessarily mean you’ll receive better care than the standard treatment. You should always talk with your doctor(s) before getting involved in one. Some risks to consider are:
- The risk of harm and/or side effects due to experimental treatments
- Researchers may be unaware of some potential side effects for experimental treatments
- The treatment may not work for you, even if it has worked for others
PubMed
Similar to clinicaltrials.gov, PubMed is another place to turn if you’re looking to research your rare disease. This website includes more than 33 million citations for biomedical literature from MEDLINE, life science journals and online books.
If you type in your disease, you’ll see a list of studies and articles about the condition. You can even add a filter to only look at clinical trial information. By looking at the doctors associated with the published clinical trial results and other articles, you may be able to find doctors that specialize in research for your disease.
Newly-Developed Drugs
For those who’ve been recently diagnosed with a rare disease, we also want to highlight reasons for hope since there is something of a revolution going on in the development of drugs for rare diseases. The sequencing of the human genome has enabled doctors to take new approaches to treating some of these uncommon conditions. One step you may take after being diagnosed with a rare disease is looking into the drug companies developing drugs to treat your condition.
Compassionate Use and Off-Label Use
Drug companies may be able to help patients enroll in clinical trials, and, in some rare cases, they may even be able to offer “compassionate use.” Compassionate drug use makes a new drug that has not been fully approved available to a patient facing a serious illness. This only typically happens when a patient has exhausted all other treatment options, but it is an important option to understand.
The “Right to Try” Controversy: When Should People be Given Experimental Drugs?
Similarly, researching drug companies may be a path to “off-label” drug use. Off-label drug use involves taking a drug that has been approved for treating one condition in the hopes that it may treat another condition that it has not yet been approved for.
Contributing: Joe Kerwin
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