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Savannah – or Sassy Savvy as she’s known by her family – is a caring sister, a strong-willed daughter and above all else, overfilling with creativity, happiness and laughter. Savannah is also living with a rare disease, fibrodysplasia ossificans progressiva (FOP), and while it has a great impact on her life, she nor her family let it define her.

FOP is an ultra-rare disease that impacts the lives of fewer than an estimated 400 people in the U.S. The disease causes new, abnormal bone to form in muscles and joints, which over time severely restricts mobility and function, such as eating and walking independently or providing selfcare.

For Savannah, the physical challenges of FOP have led to limitations in what she can do when compared to others her age. However, her passion for singing remains unchanged. She practices with her keyboard and often encourages her dad to join in (although he admits he’s “not as good” as Savannah).

Despite the day-to-day challenges of life with FOP, such as the pain resulting from the abnormal bone formation, Savannah’s mom Christina explains that “she is so strong-willed.”

Currently, Savannah is also home schooled, so her family is her primary social network. “The social aspect of Savannah having FOP has been big,” shares her father, Jamal. “We are the people she sees for the most part. We’re her best friends, so she’s not getting interactions with kids her age.”

Savannah’s big sister Saniya is her biggest advocate and provides incredible support. Yet, Saniya recognizes that the support is two ways – Savannah “helps me with my nerves. She helps me to feel confident in myself. And she helps me just really strive and just be the best that I can be.”

Her family agrees her “positivity is a big thing that she’s taught this family. She has the ability to be so impactful to other people. Without her we wouldn’t be as positive as we are and I never want her to lose that.”

For others living with FOP, Savannah wants you to know “FOP is rare and that means you’re special.”

Learn more about Savannah and hear her family’s story:

Nora and her husband, Hector, met 39 years ago, got married shortly after, and have been inseparable ever since. In 2021, Hector was diagnosed with metastatic pancreatic cancer, which threw their entire family into navigating a very difficult diagnosis. Nora has taken on the role of Hector’s advocate and caregiver.

Metastatic pancreatic cancer is one of the hardest to detect and most difficult cancer types to treat when compared to all solid tumor types. Emotionally, metastatic pancreatic cancer can affect daily life, negatively impacting a patient’s psychological and emotional well-being just as quickly as their physical health. Since the diagnosis is serious with an average survival of less than two years, people diagnosed and their loved ones experience stress, uncertainty and a mix of other emotions.

For Hector, the first sign he had that something wasn’t quite right was when he started having problems with his stomach. A visit to the GI doctor revealed spots on his pancreas, which he was told were not a big deal. But, after about three more months and numerous visits to the hospital, one day, Nora noticed that Hector’s skin had a yellow hue. The couple rushed to the hospital, where Hector was diagnosed with stage IV metastatic pancreatic cancer. Speaking to the severity of the diagnosis, Nora said, “we both knew what it meant.” It was devastating news for their family, especially after being told nothing was wrong.

But, the couple decided they would not give up. “We’re going to fight it. We’re going to do everything we can,” explains Nora. She made it her mission to become Hector’s best advocate by joining him at all of his doctor’s appointments, and keeping a notebook of everything to remember – from names of doctors to ideas about how she could support Hector with nutrition.

Nora reminds people who are caring for a loved one that it’s important to make time for yourself and maintain your own physical and mental health as a caregiver. She notes that by taking care of yourself, you’re enabling yourself to best support your loved one. For her, she finds respite when listening to music and loves going for hikes to clear her head.

Although Hector and his family have a very difficult diagnosis of metastatic pancreatic cancer, Nora believes in the power of positivity and offers advice to others going through a similar situation: “Don’t give up. There’s always hope.”

Learn more about Nora and Hector’s story:

Sabrina is a lover of nature, mother and grandmother, whose outlook on life is to make every moment count. Sabrina lives with primary biliary cholangitis (PBC), which means every day is different depending on the severity of her symptoms, but this doesn’t stop her from doing the things she loves the most.

Sabrina’s favorite ways to pass the time include family time and enjoying the great outdoors. Growing up in rural Washington state and growing her own family with her husband Jason, the place she calls home is a true source of love and adoration. Sabrina finds herself spending weekends with family camping, hiking, barbequing, and enjoying the natural beauty of where she grew up ─ when she has the energy to do so, and on top of her full-time job and responsibilities as a mother and grandmother.

“You need to make every moment count,” describes Sabrina on her ambition to live life to the fullest. “I want to live life while I can live it. I want to have those experiences with my family. I want to do those things with my kids and my grandkids. Don’t give up hope.”

PBC is a rare, progressive, autoimmune cholestatic liver disease in which bile ducts in the liver are gradually destroyed. The damage to bile ducts can inhibit the liver’s ability to rid the body of toxins, and can lead to scarring of liver tissue, known as cirrhosis.¹ The symptoms that impact Sabrina on a daily basis are severe itching (pruritus) and debilitating fatigue. Every day is different but on a typical day, Sabrina lives with symptoms that tend to be invisible to others.

“It can be downright awful,” Sabrina describes her PBC. “I have upper right quadrant pain quite frequently. I have itching. It can happen during the day. There’s no rhyme or reason.”

Sabrina also experiences challenges in her personal ability to access care while living in a rural area. Her local hospital does not have any PBC specialists and Sabrina, similar to many other people living with PBC, often finds herself educating healthcare providers on the disease and advocating for herself. When Sabrina needs to see her hepatologist in Seattle, she and her husband take a seven-hour drive from her home. Advocating for herself includes monitoring her symptoms closely, including checking her blood pressure daily.

Life with PBC for Sabrina has not been easy, but she has developed a support system and leaned on her family and loved ones. Finding a community of other people, especially women, living with PBC has been very important for Sabrina’s journey.

“I’ve met so many people I would have never known that I love dearly,” shares Sabrina on finding her community of others living with PBC. “They’ve become family.”

Learn more about Sabrina and hear her story:

References

1. Kimagi T, et al.. Orphanet J Rare Dis. 2008; 3:1