View original story as posted by Mississippi Public Broadcasting.

Originally published by Mississippi Edition on 12/04/2017.

Can Mississippi’s Universities afford to keep students safe? Find out why some institutions do not want to leave another legislative session empty-handed. Then on Everyday Tech, tools that can help you and your family stay healthy & safe. And, hear from the Mississippi mother who’s founded the only nationally recognized rare disease foundation in the state. Why time is critical for MS children.

View original story as posted by Infocielo.

Originally published by on 11/06/2017.

 

View original story as posted by Televisión Pública Argentina.

Originally published by Televisión Pública Noticias on 10/23/2017.

Emitido por TV Pública Argentina, el lunes 23 de octubre de 2017. http://www.tvpublica.com.ar y http://www.tvpublica.com.ar/vivo

 

View original story as posted by RARECast.

Originally published by RARECast on 10/04/2017.

When Amber Olsen’s daughter Willow was diagnosed in 2016 with an ultra-rare lysosomal storage disorder known as multiple sulfatase deficiency, the diagnosis was grim. There is no treatment for the disease and most children with the condition don’t live past the age of 10. Unlike other lysosomal storage disorders that have been treated with enzyme replacement therapies, MSD involves a lack of multiple enzymes. It also includes significant central nervous system involvement that makes delivery of therapies that much more challenging. We spoke to Olsen about MSD, the United MSD Foundation she founded to drive research toward treatments, and how she enlisted one researcher to pursue a potential gene therapy.

View original story as posted by The Public Library of Science Blogs Network.

Originally published by Ricki Lewis, PhD on 09/07/2017.

Willow is a beautiful name. Meaning slender and graceful, like the tree, it evokes images of a little girl running through the woods with streams of hair behind her. But Willow Cannan, who lives in Mississippi with her parents and two older sisters, can’t run or do very much on her own.

A Master Molecule Missing

Willow was born on August 21, 2013. At first she seemed fine, except for difficulty nursing.

“Nothing in itself was significant, but a combination of things over time got worse. She crawled a little late. She did walk, but late, at 18 months. She had frequent ear infections, and dry skin that was very bad on her back and her scalp. And she never talked. No words, not even dada. She just made a few sounds,” recalled her mother, Amber Olsen.

The clues started to accrue between 18 and 24 months, when speech therapy didn’t help. Was the problem fluid in her ears, or enlarged adenoids? Willow had her adenoids out the day after she turned 2.

Amber and her husband Tom Cannan probably didn’t know it at the time, but they were about to start the diagnostic odyssey that millions of rare disease families share. It starts with convincing a pediatrician to look beyond the “horses” that are the common childhood conditions to recognize that a child is a zebra or unicorn, with a collection of rare peculiarities that might actually be trumpeting an underlying genetic glitch.

Willow was back at the pediatrician’s three weeks after the adenoid surgery. It hadn’t helped her speak.

“She was walking and running, but she was standing still in time, not progressing like a normal toddler. The pediatrician finally agreed to an endocrinology consult because Willow had been 8 pounds at birth but hadn’t grown at the normal rate, consistently in the 0 percentile,” Amber recalled.

Thyroid tests came back fine. The next stop: a pediatric neurologist, in January 2016. “He looked at her and said there was nothing terribly significant, but she was two and had started having balance issues, and trouble walking. When I said that I had started to see skills undoing, he said ‘ok, we’d better do a genetic panel,” Amber said.

Willow had a chromosomal microarray test, which detects short DNA sequences that are present in extra copies or absent that might explain non-specific findings such as developmental delay or loss of skills. “That test was the only reason we knew what it was,” Amber said. Further single-gene tests confirmed it.

Willow has a gap in both copies of a gene, SUMF1, that normally encodes a protein called sulfatase modifying factor 1, making her one of about 50 people in the world with multiple sulfatase deficiency (MSD). The absence of the one enzyme results in her missing a bunch of enzymes that break down mucopolysaccharides – components of mucus that are mostly sugars with some proteins.

SUMF1 encodes an enzyme, FGE (for formylglycine-generating enzyme), that 17 other enzymes, called sulfatases, require. (Sulfatases remove sulfur atoms from certain proteins.) FGE both activates the sulfatases and ships them to the cells’ garbage disposals, the lysosomes, when they build up. So SUMF1 is a little like a Sprint store activating 17 new iPhones while recycling the old ones. One phone not responding is a problem, but the Sprint store burning down is even worse. Multiple sulfatase deficiency is a big Sprint store on fire.

As a result of the falling domino-like effect of SUMF1 mutations, the urine of kids with Willow’s condition lacks the 17 mucus enzymes, and the child develops symptoms of the other “mucopolysaccharidoses” (MPSs). A good article on the natural history and biochemistry of MSD describes 10 children – 7 from France and one each from Lebanon, Pakistan, and Turkey – who have 13 different mutations among them.

Willow inherited one mutation from each parent. After her official diagnosis in May 2016, things began to move a little faster.

Finding Experts

Willow’s pediatrician and endocrinologist had never seen a child with MSD, but the general supportive care, such as physical and speech therapy, was appropriate. Fortunately, the family could get to Keesler Air Force base in Biloxi, where a geneticist had trained with Brian Kirmse, in Jackson, an expert in lysosomal storage diseases, a broader category that includes MSD.

“Dr. Kirmse had seen a child who had passed away before a year of age. He explained about the enzymes and storage material and that Willow’s form is the worst of the worst, although he didn’t use those words. Her body was slowly breaking down and we’d just have to take care of her,” Amber quietly told me.

In the MPSs, stuff (“storage material”) builds up, drowning and eventually destroying cells in many body parts. In the most severe form, MSD, the corneas cloud, hearing vanishes, ears clog, tonsils and adenoids swell, and the windpipe narrows. Swallowing slows. Teeth are widely-spaced with fragile enamel, and a misshapen breastbone constricts breathing. The liver and spleen enlarge. The skin is flaky and scaly, although it doesn’t hurt or itch. Facial features are characteristically coarse, so that kids with different forms of MPS look somewhat alike.

Taking Action

DNA Science has told the stories of several families leading battles against rare genetic diseases. Like them, for Amber, a devastating diagnosis with no hope quickly transitioned from tragedy to challenge. But she was intimidated.

“I flunked biology in high school and hated the discipline and knew crap about genes and DNA. I googled for many nights. I hired a medical student to help interpret papers and compiled a list of every doctor and geneticist and researcher. I emailed them, telling them Willow’s story.”

Willow recently had an EEG to detect seizures — which fortunately she didn’t have.

Amber found other MPS families and learned their tales. She made contacts at scientific meetings. And although Clinicaltrials.gov lists nothing for MSD, she learned that gene therapy is already helping kids with other forms of MPS, such as Eliza O’Neill, featured in several DNA Science posts.

Eventually, Amber’s networking led to Steve Gray, a gene therapy guru at the University of North Carolina, whom I profiled here. Dr. Gray creates the viral vectors that deliver gene therapies. His team at the Gene Therapy Center at UNC has tackled giant axonal neuropathy (GAN), and 5 lysosomal storage diseases are on his to-do list.

Willow’s dual deletions of a master gene that controls a suite of vital enzymes must have seemed daunting, for at first Dr. Gray discouraged the distraught mother sitting before him in his office. “He said it’s in the brain, it’s too complex, I have too much on my plate. I felt like I was hitting my head against a wall. I sat and cried in his office. So he finally said, I’ll help you.”

And Dr. Gray has helped. The first mice with MSD were born on September 2 at UNC, and the first gene transfer experiments are slated for November. Social networking has drawn the community together, and in Argentina a dad, Seba Ballauz, has gotten his daughter Alma’s case into the media in a big way and joined forces with Amber. She knew of only 23 cases when Willow was diagnosed, but today knows of 48, the most recent a boy in Texas.

But time is running out.

“Willow has lost a lot of her skills. She can’t walk or run or even sit up. She can’t roll over and she’s having a hard time swallowing. She had a feeding tube put in a couple of months ago, and she’s gained 3 pounds. She’s super sweet. Her personality is bright and smiley and she’s just happy most of the time. She loves music and songs and that’s how we get her to smile,” said Amber.

The self-described DNA dunce is now talking about mouse models and the cost of developing gene therapy vectors. Amber has come a long way from flunking biology, and if her efforts to mobilize researchers and bring MSD to public attention can’t save Willow, they’ll almost certainly save others.

View original story as posted by the Associated Press.

Originally published by Leslie T. Snadowsky on 08/27/2017.

Mandeville, LA (AP) — Amber Olsen’s staffing businesses, Nextaff Gulf Coast in Ocean Springs, Mississippi and Red Water Staffing in Mandeville, Louisiana, offer recruiting services for regional companies. But Olsen is using her business experience, organizational skills, tireless work ethic and profits from her Mandeville recruitment office to fund research to find a cure for her three-year-old daughter Willow Cannan who suffers from a rare, fatal, genetic condition called Multiple Sulfatase Deficiency (MSD).

“Our phone doesn’t ring unless we build relationships with candidates and companies to remind them to use our services,” said Olsen. “Finding a treatment is similar. Researchers are busy and working on other conditions, and we have to build relationships with them and bring Willow’s condition to their attention. As an entrepreneur, I don’t give up easily. I started my Mississippi company in 2008 during the worst financial crisis in U.S. history. Almost 10 years later we opened a new office in Mandeville and founded the United MSD Foundation.”

As the chief fundraising officer for the nonprofit 501c3 organization, Olsen said she will not stop until enough money is raised to facilitate research and create a cure for all children with MSD.

The United MSD Foundation’s goal is to raise $210,000 by Oct. 1, to fund the next stage of research. Olsen said $146,000 has been raised so far and a Warriors for Willow GoFundMe campaign is actively accepting donations and spreading the word about the disease.

“Problem solving is a day to day task in a business,” said Olsen. “Finding a treatment is one huge problem that can be broken down into a thousand small steps. One step at a time and eventually we will get there – gather experts, strategize a plan and figure out the solution.”

Olsen and her husband Tom Cannan live in Ocean Springs with daughters Kylee, 14, Jenna, 10 and Willow, 3. On May 9, 2016, Willow was diagnosed with the rare lysosomal storage disorder, which meant she was born with a SUMF1 gene mutation. Doctors found Willow’s body does not create sulfatase enzymes, which prevents her system from breaking down and recycling natural cellular waste. Over the next few years Willow will lose her vision and her brain will eventually shut down. Willow now walks with a walker, has trouble sitting or eating on her own and has never spoken. Most children with MSD die before their 10th birthday.

“The doctors told us to go home and spend time with our daughter, and that there was nothing we could do besides be with her and to make her comfortable,” Olsen said. “We found research online and that a treatment was close but lacked funding. We realized we had to develop a plan and put it into action, so we created the United MSD Foundation to raise money for a cure. We will fund the work needed to develop clinical trials to identify life-saving treatments for MSD, and we just hope it is in time for our daughter.”

Olsen said all tax-deductible donations to the United MSD Foundation go toward enhancing the quality of life for patients with MSD, funding research, facilitating the development of gene therapy treatments to create the first-ever treatment for MSD and providing resources for and building a network of MSD patients and families who are fighting to find a cure for this degenerative disease.

The United MSD Foundation has been successfully working with Dr. Steven Gray at the University of North Carolina School of Medicine’s Gene Therapy Center to create the clinical trials needed to get treatment to help Willow and other children with MSD.

While fewer than 50 children worldwide have been diagnosed with Willow’s specific condition, lysosomal storage disorders are believed to have an estimated frequency of one in every 5,000 live births. A cure for MSD could potentially result in the cure for multiple conditions, saving thousands of children’s lives.

“There’s been a resurgence of new types of treatments for these rare inherited disorders like MSD,” said UNC Gene Therapy Center’s Dr. Gray. “Gene therapy has been at the forefront of this resurgence and has proven to have outstanding results in many cases. Because we know what’s wrong and what genes are missing, I have high hopes that a cure can be identified. However, it all comes down to funding.”

Olsen expanded her staffing company to the Northshore in 2016 soon after Willow was diagnosed, and has been donating all of her profits to the United MSD Foundation.

“We set up Red Water to fund the foundation and research,” Olsen said of her Mandeville business. “Fundraising is very hard and in many ways not efficient. I know staffing and how to build a profitable company so that is my goal for Red Water – to create a stream of revenue to fund a treatment and save our children.”

MSD is so rare, Olsen said, large pharmaceutical companies have ignored their plight and families like hers have had to fend for themselves. She said a clear track to treatment includes generating safety studies, the manufacture of a clinical grade vector, obtaining FDA approval and treating children in a clinical trial.

“In the beginning, we hoped that finding a cure for MSD would save our daughter,” said Cannan, Willow’s father. “We just wanted her to live. But now we are fighting for all of the families worldwide whose lives have been devastated by this condition. We have to give them hope.”

“We named this campaign ‘Warriors for Willow’ because it seems like an insurmountable task, but my friends, family, business contacts and many, many in our community have stood up with us and have been fighting with us,” said Olsen. “MSD may be rare, and this battle may seem impossible but we plan to win for Willow.”

View original story as posted by Clarín.

Originally published by Marcelo Maller on 08/15/2017.

Alma tiene 2 años y lucha contra el Déficit de múltiples sulfatasas, que ataca la motricidad y el sistema nervioso.

Alma Ballauz tiene 2 años y medio y su frágil cuerpito está atacado por una enfermedad que sufren menos de 50 personas en el planeta: el MSD (Déficit de múltiples sulfatasas). que le provoca retraso en su motricidad y principalmente le afecta el sistema nervioso. Por eso la familia inició una campaña que se llama “Una cura para Alma” para juntar 1,5 millón de dólares que le permitiría un tratamiento en el exterior para frenar la enfermedad.

“Es una enfermedad lisomal genética lo que tiene Alma. Ella no camina, no habla, no tiene estabilidad para sentarse e interactúa a su manera”, le comentó a Clarín Sebastián, el papa de la chiquita. Luego agregó que: “Le dieron 5 años de vida, es una enfermedad que progresa rápido”.

Sin embargo una luz de esperanza se encendió poco tiempo atrás. “Hace un año nos dijeron que no tenía cura. pero hace un mes, en Irlanda, hubo una convención internacional sobre esta enfermedad. Y los investigadores dijeron que hay una terapia génica que serviría. Ya fue utilizada en otras, pero no en esta enfermedad. Pero ese tratamiento vale 2,5 millones de dólares y básicamente consiste en un trasplante genético por vía introvenosa e intercerebral”, dijo Sebastián, que es empleado administrativo.

Ese número, por cierto, asusta y bastante, sobre todo teniendo en cuenta las corridas del dólar en nuestro país. Aunque mucho menos con la solidaridad que les llegó desde la Fundación Saving Dylan, de Irlanda, y también de Warriors for Willow, de Estados Unidos. Es que entre ambas aportarán cerca de un millón de dólares a la causa y así se sumará a lo recaudado por la familia que también está tramitando abrir una fundación en nuestro país. “Nos dieron esta oportunidad, ellos ya había comenzado a juntar dinero mucho antes”, explicó el papá, con mucha ilusión.

Ahora el objetivo de la familia es viajar antes de octubre. Hay dos propuestas; una es en el Hospital de Filadelfia, en Estados Unidos, donde la trataría el doctor Steve Gray y la otra, en Italia, en el laboratorio Telthon, bajo la supervisión de Andrea Allabio.

En esta cruzada solidaria de la cual depende la vida de la pequeña, el Estado no dio respuestas positivas. Desde el Ministerio de Salud de la Nación primero prometieron apoyo pero luego “me dieron por respuesta un no porque era un tratamiento experimental y que sólo si era en Argentina podían ayudar”, dijo Sebastián. La próxima entrevista será pronto en el Ministerio de Salud, pero de la Ciudad de Buenos Aires. Y allí esperan tener mejor suerte.

Claro que ya comenzaron a sumarse los apoyos. Los del corazón y los económicos. Ballauz contó que “varios jugadores de fútbol nos dieron su respaldo, aunque prefirieron que no los nombráramos”. El ambiente de la pelota prestó atención al llamado de ayuda e instituciones como Ferro, Argentinos Juniors, All Boys y River se pusieron a disposición de los familiares de Alma para organizar algún partido, evento, o sorteo de camisetas para recaudar fondos. También se comunicó Ulises Bueno, el hermano del cantante ya fallecido Rodrigo, para ayudar. La familia espera que sean más los llamados que tengan que atender en los próximas semanas.

Los Ballauz abrieron diversas vía para colaborar. Una de ellas es en Caja de Ahorro Banco Ciudad $ 000000330203044997 CBU: 0290033910000030449975 (el alias es UnacuraparaAlma), CUIT: 27301366286 Titular: Verónica Joffe. También se pueden hacer consultas en las redes sociales, tanto en Facebook, Twitter e Instagram, bajo las palabras clave “Una cura para Alma”.

View original story as posted by C5N.

Originally published by C5N on 08/08/2017.