Understanding Hurler Syndrome
- Roman Perkins, 25, graduated college despite being born with a rare genetic disease called Hurler syndrome, which has an average life expectancy of five years old, with many children living with this disease passing away before turning 10.
- According to the Icahn School of Medicine at Mount Sinai, Hurler syndrome, also known as Mucopolysaccharidosis type I (MPS I), is a rare disease in which the body does not have enough of, or is missing, an enzyme needed to break down long chains of sugar molecules.
- “These chains of molecules are called glycosaminoglycans (formerly called mucopolysaccharides). As a result, the molecules build up in different parts of the body and cause various health problems,” Mount Sinai explains. “The condition belongs to a group of diseases called mucopolysaccharidoses (MPSs).
- Handling a rare disease can be very overwhelming, but SurvivorNet’s experts have guidance on how to seek out specialized treatment providers. More common diseases might not require the same degree of specialized attention, but finding doctors with specific expertise may be necessary for rare ones. In that case, the most effective place to find a specialist is often at academic centers and comprehensive care centers.
- The SurvivorNet Clinical Trial Finder and websites called 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.
Roman Perkins, a 25-year-old man from Pleasanton, California, has just graduated college despite being born with a rare genetic disease called Hurler syndrome, a disease, which according to the the
National Library of Medicine, sees an average mortality of five years, and a large majority of children with this disease dying before reaching age 10. However, Perkins is determined to inspire others living with disabilities that anything is possible in life—as he far surpassed the life expectancy of those with the disease and recently obtained his bachelor's degree from Chapman University in Southern California. Perkins, who graduated with a major in psychology and minor in entrepreneurship this past month, spoke with
KTVU about his milestone accomplishment in a recent interview, insisting, "I want people to see me as someone who can accomplish anything." https://twitter.com/KTVU/status/1796169717494825302 Perkins' dad Ron also spoke with the news outlet, referring to his son's recent graduation, saying, "I knew I would get emotional when he came across the stage. "You always told us you could do it and he just proved it. It's a big deal." Perkins, who graduated Foothill High School seven years ago, has come a long way since his bone marrow transplant in 1999 that left his dad fearful of the future, as the transplant wasn't a cure as he still had difficulty with his ability to walk, talk, hear, and see. He told KTVU, "I just faced it as a challenge, to find my own way to do better and overcome it." Referring to his high school school work, Perkins' dad recounted, "It would take him 2 to 3 times longer to do his assignments, but he would just sit there and go through it. He would advocate for himself."
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Perkins also got a driver's license and a car, but needed to take a break from driving after having a seizure. He eventually underwent a cornea transplant when his eyesight worsened. Despite his health issues he's battled, he picked up a barista job while attending college, allowing him to "finally get to build social skills with people and interact with the customers," Perkins, who needs another cornea transplant, explained to KTVU.
Perkins, who strives to get a full-time job and stays physically fit through mixed martial arts, refuses to let any obstacles prevent him from chasing his dreams.
RELATED: Living with Multiple Sclerosis, Selma Blair Says It’s Crucial To That People With Disabilities Vote To Stand Up For Their Rights "I'm most grateful to my family for always being there if I need some sort of support. I just reach out to them, and they're right there," Perkins said. "I'm always going to stumble upon a rough patch." Perkins' dad added, "He's everybody's purpose, including my own. I don't know what I'd do without him. ...He's given me strength when I didn't have any. "He means everything."
Living With Hidden Disabilities — Voice Over Artist Kat Cressida Shares Her Cancer Story Resilience Through Adversity & Reaching Milestones
SurvivorNet specializes in covering the lives of people who overcome seemingly insurmountable obstacles, like Roman Perkins did by graduating college. Often, seeing the positive helps them maintain their resilience.
Dr. Zuri Murrell , an oncologist at Cedars-Sinai Medical Center, spoke to SurvivorNet about the role of a positive outlook on survival rates: “I'm pretty good at telling what kind of patient are going to still have this attitude and probably going to live the longest, even with bad, bad disease. And those are patients who, they have gratitude in life.”
Resilience: Staying Positive Despite Adversity Meanwhile, resilience is an important trait, but not the easiest to build. When building resilience, the ultimate goal is not to avoid tough times, but to be able to bounce back from them. And yet, when they are faced with an overwhelming, life-changing situation, how do people shift their view? How do they learn to see the problem as temporary, rather than permanent, and figure out a solution? It's complicated, because building resilience is more about your mental and emotional fortitude than anything else. According to the
American Psychological Association , “the resources and skills associated with more positive adaptation (i.e., greater resilience) can be cultivated and practiced.” In other words, resilience is not something you're born with, which should be encouraging. Instead, after every challenge in your life, you build more and more resilience to those hard times. Building resilience is down in the same way you build muscle through patience and steady exercise of the skill. Some lessons learned from other cancer warriors
SurvivorNet has covered include being willing to learn, spending time with people who inspire you, allowing yourself to grieve, being flexible, and leaning in to your community for support. Meanwhile, reaching milestones during or after a battle with disease is huge. These events – like graduating college, getting married, or turning another year older – may mean even more than they did previously, so it's important to take them all in and celebrate all that you’ve overcome.
"
I’m Able to Be Here For More Milestones" - One Cancer Survivor’s Incredible Story Chrissy Degennaro, a cancer warrior determined to keep enjoying these precious milestones, is a great example of this. She has been battling a rare blood cancer called
multiple myeloma for 14 years, and was first diagnosed when she was just 36 years old with a 2-year-old son. When she was diagnosed, she almost expected to not be able to see him enter kindergarten. But thanks to 27 rounds of
chemotherapy , two stem cell transplants, a
CAR-T cell trial and two
CAR-T cell transplants over following 14 years, she’s able to keep making memories with her family.
RELATED: Baltimore Orioles Star and Cancer Survivor Trey Mancini Announces His Engagement to NBC Sports Reporter Sara Perlman; Enjoying Life’s Milestones after Cancer "You know, I do live one day at a time," Chrissy previously told SurvivorNet. "Now, maybe I can go a week, a month, but things are looking pretty good. I’m able to be here for more milestones for my son, for more holidays, more birthdays. I do feel like I have had another chance at life."
"Made as Much Lemonade Out of These Lemons as I Could" – Survivor Rachel Miller Garcia Shares Her Story Understanding Hurler Syndrome
According to the
Icahn School of Medicine at Mount Sinai , Hurler syndrome, also known as Mucopolysaccharidosis type I (MPS I), is a rare disease in which the body does not have enough of, or is missing, an enzyme needed to break down long chains of sugar molecules. "These chains of molecules are called glycosaminoglycans (formerly called mucopolysaccharides). As a result, the molecules build up in different parts of the body and cause various health problems," Mount Sinai explains. "The condition belongs to a group of diseases called mucopolysaccharidoses (MPSs). MPS I (Hurler syndrome) is the most common and other types of MPSs include: MPS II (Hunter syndrome), MPS III (Sanfilippo syndrome), and MPS IV (Morquio syndrome). Mount Sinai explains that Hurler syndrome is inherited and symptoms often arise in children between the ages of 3 and 8. Symptoms may include:
- Abnormal bones in the spine
- Inability to fully open the fingers (claw hand)
- Cloudy corneas
- Deafness
- Halted growth
- Heart valve problems
- Joint disease, including stiffness
- Intellectual disability that gets worse over time in severe MPS I
- Thick, coarse facial features with low nasal bridge
Deciphering whether one has MPS can be done in newborn screening tests, an electrocardiogram (ECG), genetic testing for changes to the alpha-L-iduronidase (IDUA) gene, urine tests for extra mucopolysaccharides, and a spine X ray. Treatment for this disease can include enzyme replacement therapy and even a bone marrow transplant.
Have a Rare Disease? Here are Some Resources
All sorts of feelings of anxiety, fear, and loneliness can come with the diagnosis of a rare disease. 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.
RELATED: If You're Diagnosed with a Rare Cancer like Louis Vuitton Designer Virgil Abloh, How Do You Find Help? "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.
Clinical Trials Can be Life-Saving for Some 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. And if you'd prefer to search for clinical trials on a more user-friendly site, try SurvivorNet's new A.I. driven tool built on top of clinicaltrials.gov: the
SurvivorNet Clinical Trial Finder. This tool is updated daily and gives users access to more than 100,000+ individual clinical trials to help them find treatment options. To use the SurvivorNet Clinical Trial Finder, simply answer some basic questions using our custom-designed chat feature and we'll send 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."
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. 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: SurvivorNet Staff 
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