Patients & Families

Patient Affairs and Community Engagement

The involvement of the individuals, their family members and caregivers, advocacy organizations, and the supporting community is significant to Abeona’s mission of advancing treatments for rare diseases. It is how we began and a top priority as we continue our progress in developing potential gene and cell therapies for rare, life-threatening diseases including Epidermolysis Bullosa, Sanfilippo syndrome, and Batten disease.

The children and adults impacted by these rare, devastating diseases and those who care for them can receive focused communication and information through our Patient Affairs and Community Engagement team. Information on gene therapy, the drug development process, available resources, and Abeona’s specific programs are available through this single point of contact. Additionally, our team seeks input from the communities we are engaged with to drive strong communication and incorporation of community priorities and needs, as well as provide insight into the experiences and knowledge held.

Our aim is to serve as a connection point between the communities we serve and the broader team at Abeona, while seeking opportunities and means to reach mutual goals.

What are Rare Diseases?

A Disease is rare when it affects fewer than 200,000 Americans at any given time or fewer than 1:2,000 people in Europe.

There are nearly 7,000 rare diseases, which may involve chronic illness, disability, and often, premature death. More than 25 million Americans and 30 million Europeans have one.

While rare diseases can affect any age group, about 50% of people affected are children (15 million); and rare diseases account for 35% of deaths in the first year of life.

These rare diseases are often poorly diagnosed, very complex, and have no treatment or not very effective treatment—over 95% of rare diseases do not have a single FDA or EMA approved drug treatment. However, most rare diseases are often caused by changes in genes—80% are genetic in origin and can present at any stage of life.

RARE DISEASE FACTS

  • More than 7,000 known with more discovered every year
  • Over 350 million people affected worldwide
  • 80% are caused by a genetic defect
  • 50% of those affected are children
  • 30% of those children will not live to see their 5th birthday
  • 95% have no approved therapy or drug on the market

Rare Disease Day

Rare Disease Day is held on the last day of February every year to raise awareness of rare diseases. See year-by-year highlights and how Rare Disease Day has grown since its first celebration in 2008! Read more at RareDiseaseDay.org

Rare Disease Day

Patient & Family Stories + Resources

Epidermolysis Bullosa

Epidermolysis Bullosa (EB) is a group of life-threatening connective tissue disorders that range in severity and are characterized by skin blisters and erosions, impact to internal organs, and depending upon form, significant shortening of life. The cause is due to mutations in one of 18 genes that result in five major types of EB. Regardless of form, all individuals impacted by EB endure pain and impact to daily life. One in 20,000 in the US is born with EB. At this time, there is no approved drug or therapy and standard of care remains wound care as well as pain management.

Learn more about Recessive Dystrophic Epidermolysis Bullosa

Recessive Dystrophic Epidermolysis Bullosa (RDEB), lack functional type VII collagen due to a mutation in the COL7A1 gene. Skin blisters, esophogeal strictures, corneal ulcers, and a phenomenon called syndactyly, where fingers or toes become fused, cause a considerable amount of intense pain and itch for patients living with EB, and the disease is often complicated by the development of an aggressive form of squamous cell carcinoma.

Resources for Patients & Families

United States

The Dystrophic Epidermolysis Bullosa Research Association of America (debra of America) is the only U.S. nonprofit providing all-inclusive support to the EB Community, through funding research for a cure and by providing free programs and services for those with: Epidermolysis Bullosa (EB) — "The Worst Disease You've Never Heard Of."

The Epidermolysis Bullosa Medical Research Foundation was established in 1991 by Gary & Lynn Fechser Anderson at the request of Dr. Eugene Bauer, then Professor and Chairman of the Department of Dermatology at The Stanford University School of Medicine. His research team was making exciting progress of their study of EB but needed additional funding to realize their goals.

The Andersons lost two children, Chuck and Christine, to Epidermolysis Bullosa. Both children suffered deformities of the hands and feet, chronic anemia, malnutrition and growth retardation. Neither child ever weighed more than 84 pounds. The worst part of the disease was their constant pain.

The EBMRF is unique in that the Foundation pays no salaries. All work, including executive, development and administrative, is done on a volunteer basis. The Foundation prides itself on its efficiency, keeping operating costs at less than 1% of incoming donations so that a full 99% of contributions can go directly to our research programs.

The EB Research Partnership is the largest nonprofit dedicated to funding research aimed at treating and ultimately curing Epidermolysis Bullosa (EB), a group of devastating and life-threatening genetic skin disorders that affect children from birth. 

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We are working to treat and cure EB as quickly and efficiently as possible. We fulfill our mission by partnering with non-profit and for-profit organizations, foundations, individual donors, and the EB and research communities. 


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Leading researchers say treatments and a cure for EB are within reach. Though we have made significant progress, we need much greater resources in our pursuit of a cure. Partner with us in our mission to further life-saving research for EB.

Monsie

RDEB

Monsie was born with Recessive Dystrophic Epidermolysis Bullosa (RDEB) over 30 years ago and has adapted to her condition with a remarkably optimistic candor. At 16, she overcame Squamous Cell Carcinoma, a common threat among people living with RDEB. Then at 17, she met Justin, who had educated himself about the condition—an important factor as the two began a lasting friendship-turned-relationship and eventually married. The couple is stronger than ever, although they have had to legally divorce to maintain access to healthcare while residing in Utah. Jamie Hartley, an RDEB advocate became Monsie’s mentor, before tragically dying from Squamous Cell Carcinoma a few years ago. With Jamie’s memory, and Justin’s day-to-day support, Monsie continues to advocate for herself and other people living with EB, seeking new treatments, and better access to health insurance.

Read Monsie's full story

Full story coming soon.

Christian and Noemi

RDEB

Introduction coming soon

Read Christian and Noemi's full story

“Other than give them the care they need, we refuse to treat them differently. They do chores. It's just a part of our lives. It's just something we have to carry with us as we travel our journey.” - Rich, father

Christian has been unable to open his eyes for several days now, which, much to his displeasure, meant that he was forced to stay home from school this week. “He really wanted to go,” explains his mother, Nadine, as she carefully fits his favorite LA Dodgers' baseball cap on his head. “He's never had it this bad,” adds Rich, his father. “It would happen for a day, maybe two, or three, but it's been almost three weeks now that he's had it almost every day.” Corneal abrasions have left his eyes sore and painful to open. But with the prospect of going to the park on a sunny afternoon, Christian is resolved to battle through the pain—something he's accustomed to—to practice his fastball. He grins and his left eye squints, subtly revealing his iris.

Meanwhile Noemi, Christian's little sister, is busy drinking her favorite beverage: protein-fortified chocolate milk. With her two hands working together, she carefully lifts the cup to her mouth to taste the sweet, chocolatey liquid, which is not just delicious, but an important source of calories for this growing girl. After a big gulp, she motions the bottle toward her plush stuffed animals, who “are also growing,” she says, to share it with them. Noemi squeezes her fuzzy friends with frenzied delight, holding them close to the bandages that cover most of her arms. She puts them down occasionally to give her parents or siblings a hug, running energetically through her family's living room in Chino, CA. When the opportunity to go to playground is introduced, Noemi lights up and, with a plush puppy under arm, scampers to get her soft rubber shoes on, and hurries toward the family's minivan outside.

Christian and Noemi were both born with Recessive Dystrophic Epidermolysis Bullosa (RDEB), a rare congenital skin condition from which their bodies lack the proteins to form type VII collagen, a fibril structure that anchors the dermis and epidermis together. The lack of structural integrity in their skin leads to constant abrasions, blistering, skin loss, and a limited range of motion, especially in the hands and feet. It triggers severe complications in the esophagus, eyes, anus, and extremities of the body. In addition, abrasions in their esophagi cause difficulty eating and can lead to malnutrition, while corneal abrasions can precipitate blindness. Though they are young, living with RDEB means they face a high susceptibility to squamous cell carcinoma, a deadly cancer.

For Christian, none of this keeps him from playing his favorite sport and current life passion—baseball. He lifts the ball with calculated accuracy and winds up for a pitch. His corneal abrasions, present a most basic challenge to playing any position on the field, but where impaired vision gets in the way, his imagination soars. In every way possible, he has adapted, even when his fingers began fusing together as a result of repeated skin-loss on his hands. Christian scoops the ball out of the dirt and deftly balancing the red threads against his impinged fingers, and hurls it toward Rich at the backstop, who catches the throw on a single bounce. In 2016, Christian got the opportunity to exhibit his impressive arm and coordination to thousands of onlookers when he threw out the first pitch at Dodgers Stadium—a day of pride for the entire family.

As parents with a total of five kids (two RDEB-affected), balancing everyone's needs, including their own, brings an overflowing cup to the table each day. “Nadine has a calendar,” says Rich, chuckling a bit as he muses on the family’s weekly schedule. “It looks like it's written in another language.” Both parents work full-time: Nadine as a teacher and Rich as a carpenter. “All our kids play sports, they go to catechism [religious school], and my oldest daughter is in band,” says Nadine. Their mutual determination—an utter blind force of will sometimes—keeps their family afloat, while helping support each of their children's aspirations. “We just take it day-by-day, but we also plan ahead,” says Rich. “I don't know how we do it. But we do.”

Reflecting on how they got to this point, Nadine and Rich recall the day they first realized Christian, their third child, would lead a different life. “He was born and there was skin missing on his legs,” recalls Nadine. “So, they put him in the NICU.” It took some time to get a diagnosis, because no one at the hospital had any information about EB. “They called a dermatologist, who looked it up in a book,” remembers Rich. “She was learning as we were learning.” As the harsh facts came into focus, Rich and Nadine searched for resources and support, and garnered the willpower to make the best of the situation.

“You see families that try to shelter their kids and it's harder. They're not able to do anything,” relays Nadine. “The first couple weeks [after diagnosis], I literally thought we're going to have to create a sterile room in our house, and he's not going to be able to go anywhere. I thought we'd have to carry him like a piece of glass.” They visited specialists at Stanford University to learn more about Christian's condition. It was there where they were first introduced to other affected families. “There was a little kid at the center throwing a tantrum,” remember Nadine. “It was nice to just see a normal two-year-old, doing a normal two-year-old thing... It helped me see that this is something manageable. We can do this.”

With inspiration, Nadine and Rich rose to meet the immense challenge thrust into their lives. When Noemi was born a few years later, they were quick to recognize early signs of RDEB in their youngest daughter. “We knew as soon as she was born,” says Nadine, who noticed skin missing from her ear. The family avoided the NICU entirely, bringing Noemi home. They knew she would receive the best care in their hands. “No one can care for our children as well as we can.”

Since then, Nadine, Rich, and their three older kids, began ascertaining the best methods to keep Christian and Noemi in good health—mainly with the time-consuming task of cleaning and bandaging them, which needs to happen each day. “They all step up,” says Rich, of his older kids. “They all know how to handle them. They know their needs. They know what they can and can't do. They know their limits and they help us out.”

Among people living with EB, there is a wide variety in bandage preferences. Christian prefers Mepilex bandages, which adhere well to his wounds, while not sticking to the fragile, external layers of skin upon removal. Sourcing necessary bandages has become a challenge in itself, as health insurance companies have refused to cover the expense and the family does not qualify for low-income assistance. “It is a battle we are fighting,” says Nadine, who estimates that they spend close to $1000/month on bandages. “We get them from eBay, Amazon... If we can get it cheap, we will.” This means hours of scouring the internet for new bandage sources. “It's not like you can just go to Walmart and get this stuff.”

Noemi traverses the playground equipment in what appears to be slow motion, carefully side-stepping up and down stairways and tunnels, with laughter flowing from her lips. “Look at me,” she exclaims, having reached a pinnacle of the jungle gym. “Hi Mom!” No matter how much fun she’s having, her steps remain cautious and her older brother, Gabriel, keeps a close watch in case she needs to be scooped up or helped along in any way. Noemi calls him Potato, corresponding to the brown jerseys he often wears in his school’s color. In return, he calls her by the same nickname, with endearment—Potato.  Both Christian and Noemi are good at knowing and keeping to their limits; while still having fun. The two are learning important boundaries about how to interact with others—getting themselves ready for more future life-challenges that are sure to arise.

“I'm going to school next year,” touts Noemi, as her smile reveals the spaces in between her teeth. “It's gonna be fun!” Her enthusiasm is well-received by her parents, although with any transition, there is also worry. “With Christian, we were worried about him getting bullied,” says Nadine. “But with Noemi, it's the opposite: We worry about her bullying others. She's stubborn and very strong-willed.” Noemi's direct and forceful attitude lacks inhibition, as do her gentle gestures, which don't go unnoticed. Later, she wraps her arms around her father in a moment of emotional difficulty and then runs off to pick flowers in the field and bring them to her mother as a gift.

Noemi will be attending the same school as Christian—one that has helped facilitate an overwhelmingly positive experience for him. From the start, his teachers supported his personal safety, while not singling him out, or stigmatizing him. “They talked about respecting each other's personal space and that Christian just needs some extra space,” explains Nadine. “He's kind of a celebrity at school,” says Rich. “They gave him a special day. Every year, there is an EB awareness day. This year, we gave everyone a piece of bandage to wear for the day.” With this experience, Nadine and Rich remain quite positive about Noemi's upcoming transition into schooling.

Deconstructing stigmas and making social adjustments has become daily rigor for this family, but it has also taught important lesson. “With EB, you appreciate things differently,” reflects Nadine. “We didn't know if Christian was ever going to walk, so when he did, we appreciated it that much more.” Knowing well the hurdles that come with RDEB, Rich and Nadine have instilled an important attitude in Christian and Noemi: That they are just like other kids. “We do pretty much anything that a normal kid would do,” says Christian. “I play baseball and Noemi does ballet. I go to school like any other kid and I'm in a regular classroom.” This is central to overcoming social boundaries and managing the emotional aspects of their condition. “Other than give them the care they need, we refuse to treat them differently,” says Rich. “They do chores. It's just a part of our lives. It's something we have to carry with us as we travel our journey.”

After the days outing, Christian and Noemi are a bit tired. They settle onto the couch to watch TV while waiting for dinner to arrive from their favorite pizza shop. They play amicably together, sharing openly and filling the room with joyful screams. “I tell them, 'You're brave enough to handle this,'” says Nadine. She keeps herself and the family informed on new developments in treating EB. “He's hoping for a cure,” she relates about Christian. “When there's a cure, we're going to have a big party,” says Christian from the couch. “It's going to be the biggest party ever.”

Sanfilippo Syndrome

Sanfilippo syndrome, otherwise known as Mucopolysaccharidosis (MPS) III, is a group of four genetic diseases, referred to as: MPS IIIA, MPS IIIB, MPS IIIC or MPS IIID, that are among 60 known lysosomal storage disorders. Children with MPS III are missing the enzyme needed to break down glycosaminoglycans or GAGs (long chains of sugar molecules), specifically, heparan sulfate (HS).

Learn more about Sanfilippo Syndrome

Without the missing enzyme, cells within the body are not functioning properly and are unable to fully break down and replace heparan sulfate (HS), a material which is necessary for building connective tissues.

The partially broken-down HS remains stored in cells of the body causing progressive damage. Infants and even toddlers may not show signs of the disease, but as more cells are damaged throughout the body, symptoms gradually appear. Children begin to show neurological and physical decline including loss of skills such as speaking, walking, eating, increased difficult behavior and sleep issues. This regression continues to full dependence, leading to a severely shortened lifespan.

The combined incidence of Sanfilippo is estimated to be 1 in 70,000 births. To date, there is no cure and treatments are supportive in nature.

Resources for Patients & Families

United States

The Abby Grace Foundation is a non-profit organization created to improve the lives of children diagnosed with the rare, genetic, terminal disorder known as Sanfilippo Syndrome. The Foundation strives to promote awareness and contribute to scientific research, with a goal of finding a cure for Sanfilippo Syndrome.

“Ben’s dream was to be a farmer. Not only was Ben the farmer he always wanted to be, he was the best! He was responsible for the planting of the seed of hope—the hope for a cure. A seed valiantly nourished by his family and now by so many others he inspired.” –Bruce Chapin, grandfather of Blair, who also faced Sanfilippo Syndrome

Ben will always be the Sanfilippo Research Foundation’s Chief Inspiration Officer. Let him be yours – have the perseverance to move projects forward, the strength in your conviction to seek cures, the courage to understand when a different path is required and the humility to know that you cannot do it alone.

The Children’s Research Foundation was formed by Kirby’s parents in 1995 to fund medical research and find a cure for Sanfilippo Syndrome and other neuro-genetic disorders.  To date, the non-profit has granted over $3.7 million to eight research groups with more than 95% of all receipts appropriated to fund research.  We invite you to learn more about Sanfilippo Syndrome, the foundation, its work and how to help pave the way for healthy future for Kirby and others like her.

The National MPS Society exists to cure, support and advocate for MPS and ML. The journey to a cure is a long road, but it's a path we must walk. We reflect on the accomplishments made in the past, the strong will, determination and dedication to this mission that continues today, and know a future exists with cures for these devastating diseases.

The strongest love on earth is that of a parent for their child.  Cure Sanfilippo Foundation is made up of a growing group of parents across the country, who are fighting for effective treatments, and one day, a cure for Sanfilippo Syndrome.  Every family has a story, and it is a heartbreaking one for parents of children with Sanfilippo Syndrome. The Foundation's inspiration comes from these warrior parents who, despite the devastating diagnosis, will stop at nothing to change the course of this disease and to find a cure. It is love that drives them forward. With Action, comes Hope.

Team Sanfilippo Foundation is a nonprofit medical research foundation founded in 2008 by parents of children with Sanfilippo Syndrome. Our mission is to fund potential therapies that can be in clinical trials in the near future. We support Biotech, pharmaceutical and research centers with potential therapies that are underfunded and provide assistance with connecting families to companies that need information for ongoing clinical work.

Team Sanfilippo is dedicated to providing assistance to families to gain access to clinical trials, treatments and compassionate use. We help coordinate necessary genetic testing required for families to participate in clinical trials or treatments.

Team Sanfilippo remains dedicated to getting children of all ages access to clinical trials and treatments and assistance to families enrolled in clinical trials.

Australia

The Sanfilippo Children's Foundation is dedicated to progressing clinical research into the effective treatment of Mucopolysaccharidosis III, also known as MPSIII or Sanfilippo Syndrome.

Canada

Entitled “A life for Elisa” the ultimate goal of the foundation is to raise money to fund research and find a cure for Sanfilippo syndrome.

Siblings Jessica and Connor, along with their parents, have devoted their lives to bringing hope to every family who has a child afflicted with Sanfilippo.  Their community of friends, medical specialist and local business have all joined in, surrounding this family with love, prayers, financial support, and volunteering in special ways, helping to raise over $7 million for research since 1999 with a remarkable 96% of every dollar donated being committed to research.

Although Elisa Linton appeared completely normal at birth, she was diagnosed at the age of four with a rare genetic disorder called Sanfilippo syndrome, MPS lllB, for which there is no cure or treatment. Elisa lived to the miraculous age of 22 but Sanfilippo syndrome sadly claimed her life on October 31st, 2016.

Mexico

RS was established in 2012 by Janette Ojeda following the testimony of her son Inaki with Sanfilippo syndrome.  Families, doctors and volunteers work together through this organization to save the lives of children affected with Sanfilippo by supporting research to develop a treatment.

Spain

The Sanfilippo B Foundation defines its aims in the following objectives:

  1. To spread the Sanfilippo disease so that it ceases to be a problem known by few and that it becomes a reason of solidarity and knowledge for the Society.
  2. Promote research related to knowledge of the disease and possible open lines of treatment.
  3. Facilitate the dissemination of scientific advances that are produced to be easily accessible to all interested people.
  4. Participate with other associations or foundations in projects of common interest.

The mission of Stop Sanfilippo is to encourage Sanfilippo syndrome research with the objective of finding a cure or a treatment, improve the quality of life of the affected children and their families and spread knowledge about the illness in order to help achieve early diagnoses.

Switzerland

In August 2008, we were informed that our little Charlotte, 4 years old, was affected by a rare, incurable and devastating disease, Sanfilippo Syndrome. We soon discovered that she was far from being the only child afflicted with this genetic disease.  The purpose of the Foundation Sanfilippo Suisse is to help and develop ongoing research programs.   All funding the foundation receives will be affected to promising new research programs, as well as the development and follow-up of ongoing research projects.

Borja

MPS IIIA

Borja is an eight-year-old boy living in a small town in Andalusia, Spain who was diagnosed with Sanfilippo syndrome before turning three. Since then, his mother Angeles, and his father Borja Sr., have struggled with the harsh realities of the disease, which has no current treatments or cure. They have watched Borja lose physical and cognitive abilities dramatically over the last few years, including the loss of speech. Nevertheless, he loves to play and strum his guitar. Borja’s parents utilize extended family and their local community for support as well as Sanfilippo MPS España. Borja has a younger brother, Confalo, who was not born with MPS, a great relief to the family.

Read Borja's full story

Full story coming soon.

Aislinn

MPS IIIA

Introduction coming soon

Read Aislinn's full story

“When you meet Aislinn, she'll just smile and look at you and give you a hug. I wouldn't change that if I could.” -Brian

“You might want to find a safe place for your things,” says Brian, in anticipation that his daughter Aislinn will soon return from school with her regular force of explosive energy. “You have to be careful where you leave things around here,” Brian adds. He goes on to tell the story about the mistake of leaving a permanent marker out overnight. Brian and Amy woke to an entire wall of Aislinn’s abstract art upstairs. “The wall needed to be repainted,” he laughs. “If she can, she'll draw all over everything.” Brian smiles as he speaks, revealing a playful acceptance of his daughter’s behavior.  

We move our camera equipment and notebooks to a high ledge. True to form, Aislinn bursts through the door minutes later, with Amy closely trailing, and greets us with an inquisitive yet welcoming glance. She pauses, makes eye contact and lets out a loud grunt before bolting off into the living room. Curly locks of hair hang down in front of her eyes, but nothing seems to slow her down, other than sudden shifts in her attention. Her hands fly up above her head and she darts for a pile of toys in the corner of the living room. “Not quite yet,” says Amy, gently guiding Aislinn back towards her room. “Let’s change out of your wet clothes first.”

Aislinn’s erratic behavior is to be expected. At age five, she was diagnosed with Sanfilippo Syndrome, MPS IIIA, a lysosomal storage disorder that dramatically impairs physical and cognitive development. Since then, her family continues to provide care and support with a remarkable blend of hard work and courage. This terminal condition, which has no current treatments or curative measures, has done little to temper her family's encouragement and dedication to enrich their little girl’s life. “Her cognitive abilities are stuck at around two years old and that's about the highest we can expect,” relates Brian. “The hardest part is we now have a 61 pound, four-foot tall, two-year-old that doesn't know her own limits.” Keeping Aislinn safe is a primary concern, as children with Sanfilippo tend to have an extremely high pain tolerance, and in Aislinn's case, no verbal ability to communicate with others what is going on for her. However, Aislinn is undeniably “happy” in her state, which fuels an underlying contradiction. “The joy of a child at that age,” Brian ruminates. “We have that, and we don't want to lose that for anything.” Brian and Amy see Aislinn at an almost fantastic timbre of joy-the playful inhibitions and innocence of a toddler-against the austere backdrop of early mortality. And Aislinn cannot comprehend the gravity of her own situation. She almost certainly never will. It is her parents then, who are forced to cope with this startling dichotomy on a daily basis, while continuing to provide the necessary care that it takes to simply “maintain” Aislinn’s skills where they currently stand.

Continuing Aislinn’s schooling is a cornerstone of this philosophy. Aislinn's wet clothes are a result of her school which focuses heavily on outdoor education, even on rainy days like today. “It's a charter school based on the Basic School philosophy,” Amy explains. “There's a lot of focus on the individual student and they spend much of their time outside.” Aislinn's parents are grateful to have won a lottery spot for the charter school, first for her older brother, Colin, which opened the doors for Aislinn to attend. “Aislinn is the first student they've had with Sanfilippo,” says Amy. In the classroom, Aislinn focuses on physical and occupational therapy, as well as recognizing letters and numbers. There is a heavy focus on speech, which remains severely limited. Supporting Aislinn’s ability to communicate, in the most basic ways, is paramount to enriching her life.

Sounds of glee erupt from the stairwell and Aislinn comes ambling back into the living room wearing fresh clothes. Her CNM, Angelique, takes out a box of art supplies and they sit on the back porch together. The crayons come out and Aislinn starts sorting through the myriad of colors. She finds the right hue and holds it up ecstatically. She flips from page to page, scribbling over the printed images. Her self-expression comes out in colored lines, scrawled amongst the pages of her books-shapes of insects, butterflies, trees, and flowers in bloom.

In Gaelic, Aislinn means “dream” which is apt for her paradoxical story. Brian and Amy had known something wasn't right for the first years of her life, but the diagnosis was certainly a life-altering shock. “Our lives completely changed in that moment,” states Brian. They began to educate themselves about the condition, and made crucial connections, reaching out to other MPS families and patient advocacy groups. “There's an international MPS family, mostly through Facebook,” says Amy. “There are people in England and Australia and Ireland, so when you have a question about anything, you're getting responses from all over the world.” The support of this community has become vital to Aislinn's health as well as her parents', answering key questions that often stump doctors. “It's a family you never want to be a part of,” says Brian. “But once you are, you can never live without.”

After Aislinn's diagnosis, both parents transitioned into supporting roles, relying on their pre-existing skill-sets to provide the best care they could. Amy was a social worker and quickly transferred her knowledge of social services-something she assisted other families with for years-to their own situation. “I was a teaching assistant for special education classes after college,” she explains. “Then, I was a social worker at an HIV clinic. I was referring kids for Medicaid and Make A Wish. And now, I'm dealing with the same things, but on the other side. It's kind of an eye opener now that we’re dealing with getting disability and applying for Medicaid.” She points to the swing-set outside, and the irony that Make A Wish actually came to build it for Aislinn. She provides Aislinn with daily transportation to school, doctors’ appointments, and various therapeutic treatments. However, since the diagnosis she has not returned to paid work.

Brian continues to work as an IT consultant and project manager, providing the bulk of the family's income. Fortunately, from the moment of Aislinn's diagnosis on, his job has tacitly supported him taking time for his daughter. It also helped foster and inspire his MPS advocacy. “A couple guys I worked with opened up a brewery,” recalls Brian. “And they floated the idea of a charity event.” Using his organizing skills, as well as his connections to local businesses, Brian was able to piece together his first ever fundraising event, called “Party with a Purpose.” The event utilized the local brewery, food vendors, and musicians to raise money for the MPS Society. It was a success. “We raised $24,000 and sent it to the MPS Society. We learned a lot and had fun.” Brian became inspired to start his own fundraising project to specifically fund research on Sanfilippo type A and thus came Aislinn's Wish (www.aislinnswish.org). Since then, they have organized two more successful fundraisers: a kickball and a golf tournament. “Having a foundation is A LOT of work,” exclaims Brian, who remains very much at the center of the organization. “I just do it. When they go to bed I work. I wake up early and work.”

Colin scampers around with a buddy in the driveway while Aislinn runs over to her trampoline. She bounces on it for a moment, showing her typical enthusiasm for whatever she's in the middle of, before rapidly changing focus to her bright pink jeep. Her screams of delight echo off the neighbors houses as she circles around the peaceful cul-de-sac where the family lives in the suburbs of Charlotte, NC. Colin and his friend try to compete with the level of ruckus, yelling from the garage and the windows of the house. Despite the cacophony around them Amy, Brian, and Angelique seem at peace.

Aislinn wants to say hi to the neighbors and she gallops towards their house. Typical of their adaptability, Brian and Amy follow her. “They just had a newborn,” says Amy. “I don't want her to ring the doorbell.” The jubilated Aislinn stands at the door, smiling brightly. The neighbor greets her with the infant and Aislinn squeals with delight. Brian explains how Aislinn is quite skilled at opening doors, which has been an issue in their house for some time. “We can’t leave the keys to the front door out,” he tells us. “She will just open it up and let the dogs out.”

Organizing activities as a family-balancing the needs of both Colin and Aislinn-continues to be a challenge, but Brian and Amy have figured out how to make it work. “There's a campground nearby,” says Brian. “Colin and I could camp out for the night, and Amy and Aislinn would come for the day.” Aislinn also doesn't like social gatherings which means birthday parties and celebrations can be overwhelming. “She doesn't like crowds,” says Amy. “We try to keep things small... We like to sit around the fire-pit in the backyard.” In particular, it works well when she's able to play with another MPS-affected peer and it is easier for her parents too. “There's a calmness when you're with another Sanfilippo family,” says Brian. “You both already know what each other are going through. It's easy.”

One thing that is clear is Aislinn's passion for being outdoors. Along with her other therapies she now enjoys riding at a local equine therapy program. “She loves to visit Parker pony,” says Amy about Aislinn's favorite horse. She shows us a video of Aislinn, who, with the help of aides, trots along amused and happy. Aislinn speaks through her smiles, her affability being her strongest tool for communication.

“We pretty much just have to be realistic in our current situation,” reflects Brian. “I tend not to look to the future much, in terms of what that would mean with Aislinn, because I would be a train-wreck.” Their dedication to the foundation and Aislinn's day-to-day care helps Brian and Amy stay grounded amidst the harrowing realities of a Sanfilippo diagnosis. “I've met parents through Facebook who've lost their child,” says Amy. “I read their experiences and I know if it happens to us, we will survive. I know that sounds terrible, but people are still living and happy.” Aislinn 's family remains committed to cherishing each moment, regardless of the passage of time with no treatment. In this light, these moments take on special significance-their beauty stands in direct contrast to the severity of their daughter’s condition. “When you meet Aislinn, she'll just smile and look at you and give you a hug,” says Brian. “I wouldn't change that if I could.”

Brea

MPS IIIA

Introduction coming soon

Read Brea's full story

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Austin

MPS IIIB

Introduction coming soon

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Batten Disease

Batten disease, otherwise known as Neuronal ceroid lipofuscinosis (NCL), is a set of  inherited neurodegenerative diseases, each caused by mutations in one of 13 identified genes. Batten disease mainly affects children primarily, with different rates of progression, presentation of symptoms, but all forms result in premature loss of life.

The symptoms of Batten disease are caused by the buildup of fatty substances called lipopigments in the body’s tissues. As these substances accumulate, they cause the death of cells called neurons in the brain, retina and central nervous system.

Batten disease is one of the most common lysosomal storage disorders.

Learn more about CLN1 and CLN3 diseases

CLN1 disease, often starts to show itself with developmental delays, motor deterioration, visual impairment, loss of speech, and seizures. The time of onset and rate of progression for CLN1 disease has different paths, one of which is typically earlier, often referred to as the classic infantile form. Children with this type experience a slowing of development around the age of one with a continued rapid loss of skills resulting in complete dependence by age three, and loss of life several years later. The other more typical path is a later onset, referred to as juvenile because it sets in between ages 5 and 7. Symptoms start with vision loss, behavioral issues, followed by seizures. The progression, though slower, is ultimately the same in that children lose skills and dependence over time resulting in premature loss of life in late teens or mid-twenties.

CLN1 disease is caused by a defect in the CLN1 gene resulting in enzymatic deficiencies in palmitoyl protein thioesterase 1 (PPT1). This lack of a properly functioning enzyme causes accumulations of materials in the lysosome and subsequent cell death, particularly in neurons. CLN1 disease impacts 1:100,000 live births and there are currently no approved therapies or drugs on the market.

CLN3 disease, previously known as juvenile Batten disease due to its age of onset,The function of the resulting membrane bound protein is not entirely known by scientists. Often the first noticeable sign of CLN3 disease is a change in vision which declines rapidly, resulting in blindness. As the buildup of waste product in cells continues, children lose previously acquired skills such as the ability to speak in complete sentences as well as the ability to walk or sit. They also develop movement issues such as rigidity or stiffness, slow or diminished movements and stooped posture. Beginning in mid- to late childhood, children may have recurrent seizures (epilepsy), heart problems, behavioral challenges, anxiety, dementia, and difficulty sleeping. Most live into their twenties or thirties.

As of yet, no specific treatment is known that can halt or reverse the symptoms of CLN3 disease. The juvenile form is the most common of the neuronal ceroid lipofuscinoses (NCLs) that in total affects an estimated 2 to 4 in 100,000 births in the United States. At this time, there are no approved drugs or therapies available.

Resources for Patients & Families

United States

Taylor’s Tale is one of the world’s leading voices in the fight against rare disease. Founded to honor one little girl with infantile Batten disease, today we work to build a better future for one in 10 Americans – and 350 million people worldwide – who suffer from one of more than 7,000 rare diseases. By advancing breakthrough treatments for Batten disease and advocating for life-changing rare disease legislation, we are continuing Taylor’s powerful legacy.

The Batten Disease Support and Research Association is a world without Batten disease. Its mission is to support Batten families at whatever stage they are in their journey, fund and facilitate research, and advocate for treatments and a cure. Founded in 1987, by parents seeking to build a network for those diagnosed with Batten disease, BDSRA is now the largest support and research organization dedicated to Batten disease in North America. BDSRA believes that to effectively unravel the mysteries of Batten disease, the worlds of medical science, research, and families must work together toward a common goal: discover treatments and cures.

Was originally created to fund research and find a cure for Type 1 Batten Disease (CLN1). Through this adventure we have found the importance of wellness of the mind and body. We also found that many families have a very difficult time finding equipment and the time to focus on their own well-being.  Through this we have created a program which will offer families the opportunity to get out with their loved ones by offering running chairs and handicapped accessible bikes which will fit both children and adults. We are able to sponsor families to run in events to encourage accomplishments and to build stronger relationships with loved ones.

Ireland

The Saoirse Foundation was founded by Tony and Mary Heffernan in 2010 after their daughter, Saoirse, was diagnosed with Batten Disease (Neuronal Ceroid Lipofuscinoses – NCL) – a rare and fatal neurological condition. Tony and Mary were given no information, they had no idea what to expect, and they did not know where to seek help.

Determined to spare other families this experience, Tony and Mary became advocates for families of children with rare and genetic disorders. Their awareness-raising activities and medical research initiatives led to the creation of The Saoirse Foundation, a registered non-profit charity.

Alex

JUVENILE BATTEN DISEASE (CLN3)

Alex lost her older sister, Audreanna in 2014 to Juvenile Batten disease, the same condition she is battling. Being four years younger than her late sister means that Alex and her family have all watched the disease progress, seeing what hardships it brings. The girls’ father Joe, and stepmother, Chrissy (who was once Alex and Audreanna’s at-home nurse) are now Alex’s primary caretakers. In addition to this significant commitment, Joe must also work construction to pay the bills. Along with Coreena and baby Joseph, this non-traditional New Jersey-based family balances the severity of Alex’s condition (her blindness, motor and speech difficulties) with comradery, bravery, and immense love.

Read Alex's full story

Full story coming soon.

Leighton

INFANTILE BATTEN DISEASE (CLN1)

When Ben and Kara first gave birth to Leighton it was a miracle in itself, as she was one of the first children diagnosed prenatally with Uniparental Disomy, meaning her first pair of chromosomes came from one parent. While she was developmentally delayed, Leighton’s early days held hope for the future and passed without major incident. However, after a doctor’s visit to deal with sleeping issues, the family found its way into the gauntlet of genetic specialists, leading to her rare and terminal diagnosis. Since then, Ben, Kara, extended family, and friends, have plunged into the world of supporting three-year-old Leighton through at-home care, and community-based activism in Ohio. This is the story of their love as a family and their local “Love for Leighton” community event and fundraiser. 

Read Leighton's full story

“I can’t imagine my life without Leighton, and I don’t know who I am going to be when she’s gone” -Ben

By nine a.m. a few motorcycles-vintage and otherwise-rumble their way into the municipal park then line up quietly on the grass. A historic candy-apple-red truck enters and slowly backs into a spot at the far edge of the lawn. There will be a full assortment by the day’s end. As others join, drivers emerge, shake hands, and open hoods. Admirers thread between cars and trucks to ogle shiny engines and impeccable interiors. The Ohio wind tousles the trophies on standby as riders and drivers register. Others cast wishes at raffle tables holding prizes from 120 donors. Some children wrestle on the outfield grass as others sit patiently in a queue at the face painting station, requesting animals, flowers, and superhero symbols. In the midst of the hubbub, Leighton lays in the arms of her two grandmothers, who take turns holding her under a large multicolored beach umbrella. Three-year-old Leighton is prone to sunburn but also gets cold easily, so the challenge of keeping her warm, while out of direct sunlight, is one that her grandmothers take seriously yet joyously.

Meanwhile Kara and Ben, Leighton's parents, welcome those who arrive for this special day, a benefit for their daughter born with infantile Batten disease, CLN1. Called “Love for Leighton,” this second-annual poker run and car show aims to increase awareness about Batten disease and raise money to help cover necessary medical expenses. In response to the immense challenges Kara, Ben and Leighton face, their community of friends joined together to create and organize this impactful event, geared towards eastern Ohio motorcycle and car enthusiasts. Throughout the day, riders visit backroad stops to draw playing cards, and those with the best hand in the end-in today’s case, a flush-win a cash prize. As the bikes roar to life and depart for the poker run, classic cars compete for a “Best of Category” trophy and tickets are

For a young couple with their first child, the impact of Batten disease has been enormous. Ben and Kara met in their twenties, and after a nine-month courtship, got engaged then married. Soon they were pregnant. At 20 weeks, Kara and Ben visited the OB-GYN hoping to discover their child's gender. Yet their ultrasound tech asked worrisome questions. "Are you sure your dates are right?” Their baby was measuring small. The ultrasound revealed markers on the bowels, a hole in the heart, and problems with circulation. Kara and the baby began testing four days a week-two at OB-GYN and two at maternal fetal medicine. Tests revealed that instead of having chromosomes from each parent on the first pair, their child had received both chromosomes from one parent. “Leighton was the first Uniparental Disomy to have ever been diagnosed prenatally,” Kara adds. Since only a handful of Uniparental Disomy cases have ever been recorded, no one knew if their baby-now a daughter-would be born with complications.

Leighton was tiny at birth; born three pounds, four ounces by C-Section at 36 weeks. Leighton was hospitalized in the NICU until she gained a few ounces and then sent home. She had some problems breastfeeding then drinking her formula, so she was given a thickener for the formula and put on oxygen for three months. She also began wearing her “signature" pink glasses at six months, which her parents first attributed to bad eyesight on both sides of their family. Although developmentally delayed, Leighton was in high spirits. Stefani, a close friend, remembers, “She was the happiest baby that I have ever met. And she’d scream-laugh. So loud. I don’t think I ever saw her cry.” Kara agrees, "She was doing so great. She smiled all the time. She slept great. She ate great, by that point. We had the perfect kid.” By this Leighton developed one of her most enduring nicknames, Sunshine. She was radiant.

One night everything shifted when Kara and Ben put fifteen-month-old Leighton to bed. Usually a deep sleeper, Leighton bawled all night. The change in behavior alarmed the couple, who took Leighton to the doctor the next day. At first doctors suspected that it was allergies or a sleep-stage regression. Kara and Ben bought air filters and tossed Leighton’s stuffed animals, yet their baby's piercing screams persisted. Leighton slept so infrequently she developed bags under her eyes. "We went back to our pediatrician four or five times. It was not stopping. From that night on, crying and screaming all day, all night,” says Kara. In this state, Leighton grew extremely sleep deprived. Ben adds, "There was not one single night where she actually slept. At this point she was clearly regressing but we were still under the impression that it was related to the lack of sleep."

Leighton began staring into space and losing her balance. “She was falling all the time. She would pull herself up on something and let go,” Kara remembers. "She was hitting her head and constantly had bruises everywhere. We knew that something was going on.” Meanwhile doctors had no clear answers for the family. "When we started saying, ‘Look, now she is missing her mouth when she’s picking up Cheerios.' They said, 'So she’s actually regressing?' We were like, 'Yes, we’ve been telling you there’s something going on.’” Ben confirms that they had to point out deterioration of Leighton’s motor skills to get attention. “The red flag for the doctors to finally accept that we weren’t making these issues up was the word ‘regression.’”

After an exome sequence test, they were “totally blindsided" by Leighton’s actual diagnosis. “The genetic counselor comes in. She has ten books with her,” Ben remembers, getting choked up. When the doctor said that Leighton has infantile Batten Disease, Kara and Ben had never heard of it. He informed them that Batten, also known as neuronal ceroid lipofuscinosis, is a terminal neurodegenerative disease and gave them the number for palliative care. "It’s like getting a death sentence,” Kara’s father, Vance later explained. By this, just after her second birthday, Leighton was given a life expectancy of mid-childhood-up to age five or six. “I don’t know how long it took for us to really grasp it,” says Kara.

Thrown into “fight or flight” chaos, in Kara’s words, they soon informed their large families. Within days, Kara’s aunts and cousins showed up wearing “Love for Leighton” shirts with a logo emblematic of Leighton’s pink glasses. Soon their friend Stefani suggested the poker run and car show. Stefani explains, “I organized this event to let Kara and Ben know, ‘You don’t have to go through this alone. Look at all these people that care about you guys.” Likewise, other events such as charity runs, paint nights, or bowling tournaments, hold the same mission. "The outpouring of support is unreal,” Kara reports. Kara’s boss held a fundraising dinner, child cousins began selling candy, and people began donating labor and goods. Eventually a bright pink bench, inscribed with “Love for Leighton” in serif letters, was dedicated at the family’s favorite park. Leighton has become a beacon to inform the broader public-both in Ohio and beyond-about the very existence of Batten disease.

As other children meet milestones and thrive, socializing with friends can be painful for Leighton’s parents. “What I wouldn’t give for one more messy highchair,” sighs Kara. “The worst days for me are when I dwell upon what I am missing-what we had that we don’t have anymore.” During a group discussion at their first Batten Disease Support & Research Association conference, Kara and Ben confessed their social unease among friends with healthy children and asked for advice. Other families admitted that it’s hard for those with healthy children to understand and encouraged Kara and Ben to seek support from those with empathy. Attending two conferences has given them both community and insight. “We’re to the point where we understand what’s going on,” explains Leighton’s grandfather. “For us it’s not so much the background. It’s where are we going forward.”

Since Leighton’s diagnosis, her family has had to accept that a remedy won't come in time to save her. Knowing this, Kara and Ben can scarcely plan for the future. “We are in survival mode,” says Ben. “Just because we’re not beating down their doors doesn’t mean we don’t care about the research.” They nurture hope when possible. Kara eventually wants more children, although Ben worries about pending loss. “I can’t imagine my life without Leighton, and I don’t know who I am going to be when she’s gone,” he softly admits. On good days he puts such ideas out of mind, but on bad days he plans a funeral. Despite their grief, Leighton's family and community will continue to fundraise for Batten research, ensuring her legacy continues.

This year, the outpouring of affection for Leighton-and her parents-gives the poker run and car show a festive atmosphere, like a holiday. As sleek motorcycles and beautiful cars come and go, a joyous stream of friends and family visit Leighton under the beach umbrella. In two years the event has raised over $12,000 towards Leighton’s care. There is gratitude in every receipt and offer of support. Stefani explains the renewed sense of purpose that she and so many of the other volunteer’s experience. "Every item that we stop to pick up. Every flyer that we put out. Every stamp that we put on a piece of paper. It all matters.” This community is alive with purpose: “After Leighton’s gone, we will still spread awareness,” says her grandfather. “It’s not going to end when Leighton ends.” Even the dedicated park bench will always honor a little girl with small pink glasses and a huge impact. “When we say that she is our sunshine, it really is that,” remarks Leighton’s grandmother. "As bad as everything is, she really has been that light in our eyes. So that has been the big blessing from all of this. Leighton’s mission has become how to bring out the best in people and give them an opportunity to actually do something.”

Theodore

CLN3

Introduction coming soon

Read Theodore's full story

Full story coming soon.

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Patient Affairs and Community Engagement Team

Reach out to us with any questions at all – we are here for you.

Michelle Berg

Michelle Berg

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Judy Doyle

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