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Meet 8 precious kids who have rare diseases — and learn all about them.

They may not be common, but a whole lot of people are affected by rare diseases.

A disease is considered rare in the U.S. when fewer than 200,000 people have it at any given time and in Europe when it affects fewer than 1 in 2,000 people.

In the EU and U.S. combined, as many as 60 million people may experience one — because there are around 7,000 known rare diseases.


Ceridwen Hughes, a U.K.-based photographer, has a particular interest in rare diseases because her son Isaac was born with one.

Hughes, frustrated with the assumptions people made about Isaac based on his appearance, decided to start a community she called Same But Different. "I very much wanted people to see the person behind the condition," she told Upworthy.

She later launched a photo series called the Rare Project, where she captures photos of children with different rare diseases and helps them tell their stories. She puts a great amount of care into taking several photos of each subject and learning about their histories, struggles, and triumphs from their parents.

To further the spread of awareness, Hughes shared with us the following eight photos she took of children with rare diseases.

Below each is a brief description of the disease and, in some cases, a little info about the children. You can click through to read more about them. Up first is her son Isaac!

1. Isaac, who has Moebius syndrome

All photos belong to Ceridwen Hughes/Same But Different and are shared here with permission.

A rare neurological condition that affects facial muscles by weakening or paralyzing them, Moebius syndrome makes it impossible for the person to smile, frown, or raise their eyebrows, among other limitations. The muscle weakness also makes it difficult for babies with Moebius syndrome to eat.

2. Grace, who has periventricular leukomalacia (PVL)

PVL is a rare condition where the white matter in the brain dies due to a lack of oxygen or blood flow. Babies don't usually have symptoms, but as children get older, they are "at risk for motor disorders, delayed mental development, coordination problems, and vision and hearing impairments."

Grace also has some other health conditions in addition to PVL. "Grace is a wonderful child whom we love very much," her mom told Same But Different. "We encourage her to try everything and allow her to make her own decisions (within reason!)."

3. Mari, who has WAGR syndrome

Touching 1 in 500,000 to 1 in a million people, WAGR syndrome is a disorder that affects many of the body's systems. In Mari's case, she has experienced a bowel malrotation, seven tumors that required surgery and radiation, and eye surgery. She is legally blind.

“It is very rewarding having such a lovely little girl who has overcome so many hurdles and is coming on in leaps and bounds," her mom Caryl told Same But Different. "We are so proud of her and she constantly amazes us with her capabilities despite her difficulties.”

4. Jake, who has Angelman syndrome

A complex genetic disorder that mainly affects the nervous system, Angelman syndrome causes "delayed development, intellectual disability, severe speech impairment, and problems with movement and balance." Jake wasn't diagnosed until he was 7 years old.

"Most people who meet Jake are greeted with a hug but then they struggle to communicate with him. His smile says a thousand words," his mom told Same But Different. "I think it is important that people have a better understanding of rare diseases. I believe that with greater awareness there will be more acceptance. "

5. April, who has Hurler syndrome

Hurler syndrome is a genetic metabolic disorder that prevents the body from breaking down glycosaminoglycans, which are long chains of sugar molecules, because of a missing enzyme. Without it, glycosaminoglycans build up in the body and damage internal organs. Hurler syndrome is treated with IV enzyme replacement therapy.

6. James, who has Coffin-Lowry syndrome

Affecting 1 in 40,000 to 1 in 50,000 people, Coffin-Lowry syndrome presents differently in boys and girls. Boys with the genetic disorder suffer from "severe to profound intellectual disability and delayed development." James, who is nonverbal, can sometimes feel frustrated when others don't understand him. That makes every day more challenging because he cannot communicate his needs, such as hunger and thirst. He also has low muscle tone and low mobility.

"James is our little boy and all we want is that as he grows older he is accepted just the same as any other child would be," his parents told Same But Different. "He has so much to give and the world is definitely a better place with him in it."

7. Isabel — HSV encephalitis

HSV-1 encephalitis is a rare but dangerous condition in which brain inflammation results from the virus that causes cold sores. Isabel, who was diagnosed at 13 months old, had a stroke as a result, which caused a brain injury. She has epilepsy, a hearing impairment, is nonverbal (but communicates with an assistive device), a developmental delay, and autism.

"She is strong willed and independent, she is absolutely perfect in our eyes and the sunshine in our lives," her parents told Same But Different.

8. Percy, who has Prader-Willi syndrome

Around the world, between 1 in 10,000 and 1 in 30,000 people are born with Prader-Willi syndrome, a genetic condition. As a baby, these individuals usually have weak muscle tone, feeding difficulties, poor growth, and delayed development. As they grow, they develop an insatiable appetite that leads to obesity and they often experience intellectual and learning disabilities as well as behavioral issues.

Percy's parents are preparing for the challenges his extreme appetite will bring by moving all food to a locked portion of their home and by installing a surveillance system so that if he tries to leave the house in search of food, they'll know. "{W]hen we were given his diagnosis we were devastated but in some strange way a bit relieved as his diagnosis could have been so much worse," his parents told Same But Different.

Hughes has found that even though these children's diseases are different, their families can find strength by supporting one another.

"[U]ltimately we all share the same fears, difficulties, and challenges no matter what the rare disease is," she told Upworthy.

And for the rest of the world, she's hoping to help others understand that medical differences aren't reasons to stare, mistreat, or make assumptions.

"If everyone could know one really important thing about rare diseases, it would be that everyone deserves kindness," Hughes said. And by shining light on the children, their conditions, and their personalities, she's helping educate others and make the world a better place — for all of us.

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Three women, three MS journeys: How multiple sclerosis looks different for everyone

Gina, Nathalie and Helga share their reactions to being diagnosed with MS and how they stay informed and positive in the face of ever-changing symptoms.

Courtesy of Sanofi

Helga, Nathalie and Gina all have MS, and their experiences show how differently the disease can manifest.

True

It’s been 155 years since neurologist Jean-Martin Charcot gave the first lecture on a mysterious progressive illness he called “multiple sclerosis.” Since then, we’ve learned a lot. We know MS causes the immune system to attack healthy tissue, including damaging the brain and spinal cord. Resulting symptoms can be debilitating and include fatigue, blurred vision, memory problems and weakness. Huge advancements in our understanding of MS and its underlying causes, as well as treatment advances, have been made in the past few decades, but MS remains a complex and unpredictable reality for the 2.8 million+ people diagnosed around the world.

Ironically, the only real constant for people living with MS is change. There’s no set pattern or standard progression of the disease, so each person’s experience is unique. Some people with MS have mild symptoms that worsen slowly but sometimes improve, while others can have severe symptoms that drastically alter their daily lives.

All people with MS share some things in common, however, such as the need to stay informed on the ever-evolving research, find various lines of support and try to remain hopeful as they continue living with the disease.

To better understand what navigating life with MS really looks like, three women shared their MS stories with us. Their journeys demonstrate how MS can look different for different people and interestingly, how the language used to talk about the disease can greatly impact how people understand their realities.

woman with horse, woman riding horseGina loves riding her horse, Benita.Courtesy of Sanofi

Gina—Hamburg, Germany (diagnosed with relapsing multiple sclerosis in 2017)

When her youngest son was 4 months old, Gina started having problems with her eye. She’d soon learn she was experiencing optic neuritis—her first symptom of MS.

“Immediately after the diagnosis, I looked up facts on MS because I didn’t know anything about it,” Gina says. “And as soon as I knew what could really happen with this disease, I actually got scared.”

As her family’s primary income provider, she worried about how MS would impact her ability to work as a writer and editor. Her family was afraid she was going to end up in a wheelchair. However, for now, Gina’s MS is managed well enough that she still works full-time and is able to be active.

“When I tell somebody that I have MS, they often don't believe me the first time because I don't fulfill any stereotypes,” she says.

Overwhelmed by negative perspectives on living with MS, Gina sought support in the online MS community, which she found to be much more positive.

“I think it’s important to use as many positive words as you can when talking about MS.” It’s important to be realistic while also conveying hope, she says. “MS is an insidious disease that can cause many bad symptoms…that can be frightening, and you can't gloss over it, either.”

To give back to the online community that helped her so much, Gina started a blog to share her story and help others trying to learn about their diagnosis.

Though she deals with fatigue and cognitive dysfunction sometimes, Gina stays active swimming, biking, riding horses and playing with her sons, who are now 11 and 6.

Cognitive dysfunction is common in MS, with over half of people affected. It can impact memory, attention, planning, and word-finding. As with many aspects of MS, some people experience mild changes, while others face more challenges.

Gina says that while there’s still a lot of education about MS needed, she feels positive about the future of MS because there’s so much research being done.

woman in wheelchair holding medal, woman rowingNathalie is an award-winning rower with multiple international titles.Courtesy of Sanofi

Nathalie — Pennes Mirabeau, France (diagnosed with relapsing-remitting multiple sclerosis in 2002)

Nathalie was a teenager and a competitive athlete when she noticed her first symptoms of MS, but it would take four years of “limbo” before she was diagnosed.

“Ultimately, the diagnosis was more of a relief, than a shock,” she says. “Because when you have signs and you don’t know why, it’s worse than knowing, in the end, what you have.”

However, learning more about the disease—and the realities of disease progression—scared her.

“That glimpse of the future was direct and traumatic,” she says. Her neurologist explained that the disease evolves differently for everyone, and her situation might end up being serious or very mild. So, she decided to stop comparing herself to others with MS.

She said to herself, “We’ll see what happens, and you’ll manage it bit by bit.”

By 2005, Nathalie’s MS had progressed to the point of needing a wheelchair. However, that has not dampened her competitive spirit.

Nathalie began her international rowing career in 2009 and has won multiple world titles, including two Paralympic medals—silver in London and bronze in Tokyo. Now, at 42, she still trains 11 times a week. Fatigue can be a problem, and sometimes hard workouts leave her with muscle stiffness and shaking, but she credits her ongoing sports career for helping her feel in tune with her body’s signals.

“Over the years, I’ve learned to listen to my body, letting my body guide when I need to stop and take breaks,” she says.

Nathalie explains that she used to only look backwards because of the initial shock of her diagnosis. In time, she stopped thinking about what she couldn’t do anymore and focused on her future. She now lives in the following mindset: “Even when doors close, don’t miss out on those that open.” Instead of focusing on what she can’t do, she focuses on the opportunities she still has. Right now, this includes her training for the 2024 Paralympic Games in Paris, where she will compete for another rowing medal.

“I only go forward,” she says. “Well, I try, anyway…It’s easy to say, it’s not always easy to do. But that’s what I try to do.”

woman exiting water after swimming, woman with great daneHelga's Great Dane has become a helpful and beloved companion.Courtesy of Sanofi

Helga—Johannesburg, South Africa (diagnosed with relapsing multiple sclerosis in 2010)

When Helga first started having balance issues and numbness in her feet, she chalked it up to her training as a runner. But when the numbness moved to her face, she knew something was wrong. She never guessed it was MS.

“When I was diagnosed, I felt completely overwhelmed and clueless,” Helga says. “I felt that I had nowhere near enough information. I did not know anything about the disease…I had no idea that it was going to be a process of continually monitoring and adjusting your lifestyle.”

In the beginning, Helga’s symptoms developed slowly, and she didn’t appear ill to others. She was even able to run for a few years after her diagnosis, but she couldn’t do marathons anymore, and she began to fall frequently due to balance issues and right-foot dragging. Then her cognition issues became more problematic, especially in her job as a trainer in a printing company.

“My executive function, decision-making and short-term memory were affected to the point that I was eventually medically unfit for work,” she says. She stopped working in 2017.

However, she didn’t stop living life. Even though she could no longer run, she continued to swim competitively. She got a Great Dane puppy and trained him as a service dog to help her walk. She also serves as vice chair of the patient support organization Multiple Sclerosis South Africa, and she advises others who have been diagnosed to join a patient advocacy group as soon as possible to get reliable information and meet others with MS.

Helga says she is “hopeful” about the future of MS. “I must say that I am so grateful that we have all the new medications available, because my life would not be the same if it wasn't for that,” she adds.

Part of how she manages her MS is by looking at the positives.

“If I could tell the world one thing about MS, it would be that MS is an incurable disease of the nervous system, but it's also the greatest teacher of valuing your health, family, friends, and managing change in your life,” she says. “My life is diversified in a way that I never, ever thought it would, and MS has been honestly the greatest teacher.”

Each MS journey is unique – with each person impacted experiencing different struggles, successes, and feelings as they manage this unpredictable disease. But the common thread is clear – there is a critical need for information, support, and hope. We are proud to participate in World MS Day and share these incredible stories of living life while living with MS. To learn more about MS, go to https://www.sanofi.com/why-words-really-matter-when-it-comes-to-multiple-sclerosis.

MAT-GLB-2301642-v1.0-05/2023

This article was sponsored by Sanofi. Participants were compensated when applicable.

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