Cure Sanfilippo Foundation

A parent's worse nightmare is losing their child. Our daughter Lydia is 1 year old. She will turn 2 in October. She is so full of life. She loves playing right along side with her big sister. But her little body is dying. Before her disease takes over her body and brain damage starts to occur, we have one chance to change her fate & it has to happen soon. What if money was the one thing that stands in the way of your child's chance to live? We need your help to save our sweet Lydia. **donations are tax deductible**

Our Story

When Lydia was born, we were so excited. Her big sister was so happy to have a forever best friend. Our hearts were so full. She had a perfect birth. The doctor said “she’s perfect”. We were so in love with her. We were so happy to have our new girl to take home with us. 18 months of our lives were just full of happiness. Until April 4, 2024, the day our lives changed forever.

Our sweet Lydia was diagnosed with a rare genetic disorder called Sanfilippo Syndrome type B, which is terminal. Life Expectancy not passed teenage years. Our hearts were shattered and it was a dark place I cannot even explain. How was our child slowly dying and we did not even know it?

In March, my mother sent me a TikTok of a little girl named Olivia with the TikTok account "Saving Liv". This little girl could have been my Lydia's twin. It was a gut punch when I saw the diagnosis of Olivia being a terminal illness. Of a disease I did not even know existed. So I started researching more of the disease, with symptoms that went along with it. I found frequent ear infections, sleep disturbances, distended belly, GI issues, and prominent thick eyebrows, which were all the symptoms Lydia had. The thick eyebrows were something I thought she inherited from my husband. Everyone always said "They look just alike". I knew then when I saw the symptoms, this was what my daughter had. My gut told me so but my heart told me there was absolutely no way (it is 1 in 70,000) that my baby who has met all milestones in her life and to me, was a healthy baby as I thought.

I took my concerns to our pediatrician in our hometown of Natchitoches, Louisiana. I showed him side by side pictures & the TikTok I had seen. He told me "I have never been asked this before, nor have I ever seen a child with it". He told me he would have to go do research himself and come back into the room. He came back into the room and tells me "I cannot come back in here & tell you she does not have it, so I will order you the genetic testing for it, but you will have to do it at another hospital because our town does not have that type of ability to test for it. I want you to assure you that this is very rare, and children come in all the time with issues not sleeping, constipation, and frequent ear infections still after tubes". I was so grateful that he listened to me, ordered us the testing, and did not make me feel crazy. We went to another hospital to have the testing done the very next day. It was a blood test and a urine test.

A week of anxiously waiting to "rule it out".... the following Thursday I pull up my patient portal to see POSITIVE MPS III (Sanfilippo Syndrome). That exact moment was the worst feeling of any day I have ever had on this earth. My heart sunk, I felt like I could not breathe. The instant feeling of "my baby is going to die".

This dark place my husband and I were in last for about 2 weeks. It was then, I was ready to fight for her. I contacted the Cure Sanfilippo Foundation to figure out what I could do as a mother to fight for her and the treatments available for her. There are no current treatments or cure approved by the FDA, only clinical trials. But there is HOPE. These clinical trials have a gene therapy treatment and an enzyme replacement therapy. In Sanfilippo Syndrome, Lydia's body is missing an enzyme that is used to breakdown sugar molecules. Without this enzyme, toxic waste build up in her body. This would explain her distended belly from an enlarged liver. That I thought was just from constipation. As the years go by and more toxic waste build up, it will start affecting her brain, causing damage, leading to her to lose or forget all of her abilities such as walking, talking, and feeding herself, everything she has already learned. This is why it is called Childhood Dementia. She will also eventually endure pain and suffering, and then die. This is 100% fatal. WE NEED A CLINICAL TRIAL. Before this starts to damage her brain.

Luckily, we were able to get diagnosed early because of TikTok and our pediatrician. The regression usually starts around age 3 and 4. But every child with this disease is different. This would mean we have a year or two before her brain will become damage. The only way clinical trials happen, is funding for research. They are happening now. There are trials happening for Type B, but there are currently no openings for our Lydia. With that, we need an opportunity for another clinical trial to become available for her. This is how you can help us Save Our Lydia. So one day, when my 4 year old daughter, Heidi, is able to understand, I will not have to explain to her that her little sister is going to die. The words I never want to hear is "I don't want my sister to die". After the diagnosis, that is the moment I am dreading. She is the best big sister to her. Her sister deserves a chance at life.

As a mother, feeling helpless and knowing this disease is out of my control.. the only thing I know to do is fight for her. Fighting for her in this case is making awareness of this disease, sharing her story, fundraising, and in hopes her story will reach the world. Hoping the world will help save her. We pray everyday for this. We will never stop fighting for her. Every dollar counts. We need a miracle and this world of a community could be our miracle. Along with all the other children and families suffering with this disease and heartbreak.

Our goal is to raise $1 million dollars to help fund a clinical trial and give our Lydia a chance at growing up, a chance at life. We can't just sit back and accept that she is going to die with knowing there are treatments out there. Previous clinical trials done for Sanfilippo Syndrome have shown real promise. We just need to fund more trial opportunities like this for children. Our Lydia needs treatment!! This campaign for her LIFE is as urgent as it gets. It's now or never for Lydia.

There is no guarantee Lydia will be among the children accepted into the trial, but with the funds and early diagnosis, there is a larger chance. But we have hope. This is truly our only hope. Her story has already reached millions. People Magazine, VT, Daily News, & News stations. Help us keep sharing her story. In hopes it will reach a celebrity or millionaire that will be these children's spokesperson and help fund for them. They deserve a chance at this life. A parent's love is like no other. If you are a parent, you understand.

There are three things we are asking you to do. A campaign like this can grow quickly if supported and if shared with great mass. We can reach this goal if it goes viral.

1. Please donate what you are able. All donations go to the 501c3 nonprofit Cure Sanfilippo Foundation (Tax ID: 46-4322131) to fund a clinical trial and are tax deductible.

2. Please take a few minutes and share our GoFundMe everywhere you can. It’s really easy to do. Just click the “Share” button and send it everywhere you can. Please help this reach the right people. I know if they see it, this can happen.

3. Please leverage any avenue you have to make this go viral.

Thank you for making it this far in our story. I hope you are able to help save our girl.

-Morgan & Kirk

Other ways to donate:

-- By check: Cure Sanfilippo Foundation, PO Box 6901, Columbia, SC 29260. Include “Save Lydia” in the memo.

Our daughter Olivia just turned three. She is energetic and loving. And she’s dying. We have one chance to change her fate and it has to happen soon. We need your help to save Liv’s life.

When Olivia was born, we were so excited! We couldn’t wait to start showing her the world and watching her experience life. Dance lessons, teaching her guitar, and baking together. All those things you envision for your child.

When Olivia was born, she passed all the newborn screening tests and was given a clean bill of health. However, in her first two years, she constantly had recurring ear and sinus infections and frequent loose stools. We pressed Liv’s pediatrician for answers at her two-year-old check up and began seeing a series of specialists, hoping for an answer. We were so scared the answer would be some type of chronic condition that she would have to live with her entire life. Little did we know that something even worse lay ahead.

In March 2022, our world came crashing down. Olivia was diagnosed with Sanfilippo Syndrome Type B, a genetic degenerative brain disorder in children caused by a single missing enzyme. It’s the worst disease you’ve probably never heard of. It’s like Alzheimer’s, but in children. It’s 100% fatal and there currently is no FDA-approved treatment or cure.

Because Liv lacks this single enzyme, toxic cellular waste material is building up in her brain every second and damaging it. As the degeneration rapidly progresses, Liv will stop walking, stop talking, stop being able to feed herself. She’ll develop movement disorders and seizures, suffer severe dementia, endure a lot of pain and suffering, and then she’ll die. All in the coming years.

Today, Liv loves playing waitress, helping take care of her baby brother Liam, and singing with us during bedtime snuggles. Without a cure, that will all go away and Liv will pass away in her teens.

But there is hope! There are promising forms of treatment that are already being investigated for Sanfilippo Syndrome. They just need funding to continue and reach the clinical trial stage.

Current promising research underway that could lead to clinical trials includes gene therapy, substrate reduction, and drugs already-approved for other diseases that could also help children with Sanfilippo. All of these focus on lessening the build up of the toxic cellular waste in children’s brains and bodies, which reduces neuroinflammation in the brain and prevents development of Sanfilippo’s many disease symptoms.

It just needs funding.

Large pharmaceutical companies have little interest in rare diseases like Sanfilippo because they don’t see ways to make a profit. Angel investors and federal grants are incredibly difficult to obtain. Which leaves funding the research that could save our children to parents, patient-led organizations (like Cure Sanfilippo Foundation), and kind-hearted people willing to donate.

We need your help to fund research so a clinical trial can happen.

Our goal is to raise $1 million dollars to fund the research that could lead to a clinical trial and give Liv a chance at growing up, a chance at life. We can’t just sit back and accept that she’s going to fade away and die, not when there is something we can do to try to save her.

This is as urgent as it gets. It’s Liv’s only chance.

There is no guarantee Olivia would be accepted into a trial. But it’s the only chance. And without funding for research and clinical trials, her future is certain. But we have to try. This is our only hope.

A parent’s love for their child is like no other. If you are a parent or simply love kids, you understand. Please, please help save our daughter.

There are three things we’re asking you to do. A campaign like this can grow quickly with your support. You are the key! We have faith and pray every day that your kindness, generosity, and compassion will help us make the difference for Liv.

1. Please donate what you are able. All donations go directly to the 501(c)3 nonprofit Cure Sanfilippo Foundation (Tax ID: 46-4322131) to fund research for Sanfilippo Type B and are tax deductible.

2. Most importantly, please share this page with everyone you know via social media and email by clicking share button or typing in SavingLiv.com.

3. Please leverage any avenue you have to make this go viral. Send leads or tips to us by clicking the Contact button at the bottom of this page.

Please help us give Olivia a chance at life. It has to be now.

Our deepest thanks. Words can’t even express how incredibly grateful we are.

Erin and Tyler Stoop

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I'm Christin, Mom to Veda. When Veda was born, Jericho and I thought we had our fairytale life. That this was the beginning of our happily ever after. We never expected that our entire world would turn upside down in a matter of years. And that one TikTok video would change our lives forever.

When Veda was born, she seemed like a completely normal baby, aside from some breathing issues right at birth. Those first days, weeks, and years were just bliss. Counting fingers and toes, and dreaming about our family’s future.

Veda is one of those “big personalities,” filled with vibrance and joy. She is always smiling and loves to be goofy. And, I’ll admit, she’s definitely Daddy’s little girl, through and through. She has this second sense for when it’s time for Jericho to come home from work and she always waits for him to arrive. As soon as he walks in the door, she’s running to him, giving him hugs and kisses. The two of them together are something special.

But Veda began falling behind in meeting some developmental milestones and we became concerned. Like every parent, we went to the pediatrician in search of answers for her delayed speech and chronic ear and upper respiratory infections. Sadly, we were met with repeated assurances of “She’s fine.” and “She’ll catch up,” from doctors, despite having a growing list of concerns. We had to push relentlessly to be referred to specialists. We spent months trekking to appointments with specialists, who ran test after test, but they didn’t have answers either.

My mother’s intuition was telling me there was something wrong, something causing all these concerning symptoms in Veda. Despite all the assurances from doctors, I knew there was something going on and I had to find the answer.

I never imagined what I was going to find and how I would find it. Especially since I wasn’t even looking.

One night, I’m scrolling TikTok in bed after Jericho had already fallen asleep. I see a video of a mom talking about her daughter, Haidyn, who looks like Veda’s twin. In the video Haidyn’s mom is talking about how Haidyn has a disease called Sanfilippo Syndrome and so many of the symptoms sounded like what we were seeing in Veda.The realization Sanfilippo Syndrome could be the reason for all Veda’s symptoms hit me like a punch.

I immediately Googled “Sanfilippo Syndrome” and, as I started to read, the world came crashing down.

Sanfilippo Syndrome is like Alzheimer’s, but in children. It is a terminal, degenerative disease that causes children to lose all the skills they’ve gained, suffer seizures and movement disorders, experience pain and suffering, dementia, and then die usually in their teen years. It’s caused by a single gene defect which leads to lack of a necessary enzyme in the body. This lack of enzyme results in the build-up of toxic storage in every cell, and is especially harmful to the brain. This build-up causes a cascade of detrimental effects and ultimately death. Currently there is no FDA-approved treatment or cure for Sanfilippo Syndrome.

The fear racing through me was like nothing I had ever felt. I was so scared that I woke up Jericho, hoping he could convince me this couldn’t be true. We both prayed it wasn’t Sanfilippo. We couldn’t face the idea that our daughter has peaked in her development, that she would lose every single skill she’s ever gained, and that she will die in the coming years after years of extreme suffering.

In September 2022, genetic testing confirmed that Veda has Sanfilippo Syndrome. All those years of searching, begging doctors for help, and we finally had an answer. An answer that was worse than anything we could have ever imagined. We were completely crushed.

We spent the first few weeks after her diagnosis stricken with grief. But we decided we had to fight. We had to do our best, like any parent would, to save our child. We reached out to Cure Sanfilippo Foundation, for opportunities that might give Veda a chance.

But there is hope! A clinical trial for Sanfilippo Syndrome is in the preclinical stages (drug production, drug safety testing, efficacy testing, IND application process, etc.). With enough funding, this will become a clinical trial that begins treating multiple children. And we need it to start as soon as possible. Not just for Veda, but for all children with Sanfilippo.

It just needs funding, and a lot! Clinical trials for rare diseases are enormously expensive.

Large pharmaceutical companies often have little interest in rare diseases like Sanfilippo because there isn’t enough of a business incentive. Angel investors and federal grants are incredibly difficult to obtain. Which often leaves funding the research that could save our children to parent-led organizations like Cure Sanfilippo Foundation. Cure Sanfilippo Foundation works with the community of Sanfilippo families to rally kind-hearted people (like you!) willing to donate.

Your donation will help make the clinical trial happen!

Our goal is to raise $500,000 to help fund the clinical trial. Being part of a clinical trial will give Veda a chance at growing up, a chance at life. We can’t just sit back and accept that she’s going to fade away and die, not when there is something we can do to try to save her.

This is as urgent as it gets. It’s Veda’s only chance.

There is no guarantee Veda would be accepted into the trial. That decision is up to the clinicians running the trial. But it’s the only chance. We have to try. This is our only hope. And without funding for research and clinical trials, her future is certain: she will lose all of her abilities, suffer, and pass away, likely in her early teens. All right before our eyes.

We’ve had to let go of a lot of dreams, of things we thought our future held. We have one dream now, one desperate hope: Saving Veda.

Please, please help save our daughter.

There are three things we’re asking you to do. A campaign like this can grow quickly with your support. You are the key!

• Please donate what you are able. All donations here go directly to the 501(c)3 nonprofit Cure Sanfilippo Foundation (Tax ID: 46-4322131) to help fund this clinical trial and are tax deductible.
• Just as important, please share SavingVeda.com with everyone you know via social media and email so it keeps spreading.
• Please leverage any avenue you have to make this go viral. Click 'contact' below to share any leads you might have with us.

Please help us give Veda a chance at life. It has to be now.

Our deepest thanks. We are so moved and humbled by your support,

Christin, Jericho, Elise (Veda’s older sister), and Veda

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The words Alzheimers and childhood should never have to be spoken in the same sentence, but did you know that 1 in 70,000 children suffer from Sanfilippo Syndrome, a disease referred to as childhood Alzheimers? Most do not. With your donation, a cure is possible.

Treatments for Sanfilippo are out there, though due to barriers in funding and policies, they remain unavailable. It will be years before they are released, but the children suffering from this disease now do not have years or even months to spare as their bodies, skills, and livelihood are being taken from them every moment. Awareness can help break down barriers to treatments for rare diseases like Sanfilippo.

For rare disease day 2023, many Sanfilippo families will be taking a cold plunge to raise awareness and much-needed funding for the research of treatments for this devastating disease. All funds will go directly to the Cure Sanfilippo Foundation. Join us in saving these children and fighting for their cure.



Update 2/15/18 The Wells Warriors wrestling team are raising awareness & crucial funding to find a cure for Spencer.  We need a cure before time runs out.


We need your help today to SAVE Spencer, and other kids with Sanfilippo.  Their only chance at life is a treatment in an experimental clinical trial.  Clinical trials take millions to fund and we are hoping to raise $500,000 to help fund a clinical trial.  The clock is ticking and due to the rapid degenerative nature of the disease, time is running out.  Very soon, severe dementia could take away all of what Spencer has learned if a cure doesn't come in time.  From there it gets much worse.  This is TOO MUCH to bare. Please consider giving today and please share, to help save his life!

Our sweet Spencer has Sanfilippo Syndrome. It's known as the Children's Alzheimer's. But worse. Can you imagine? Neither could we.

Sanfilippo is a rare and fatal genetic disease that robs children of their brain function and gradually kills them. Starting often around age 3, Sanfilippo kids begin to lose critical skills. They stop talking. They become extremely hyperactive and can go days without sleep. They lose the ability to walk. They can lose their hearing and their eyesight. Eventually they suffer seizures and stop being able to swallow, meaning they need a feeding tube to survive.

Most kids with Sanfilippo die in their early teens.

And there is no cure.

In fact, there's not even any kind of treatment to help mitigate Sanfilippo's devastating effects.

Spencer already has significant hearing loss; he can't talk like normal 3-year-olds and communicates mostly through some sign language.  We are in a race against time to try and save him from this horrible cruel disease.

Can you help?

There are some exciting possible treatments and a possible cure on the horizon -- especially in the realm of gene therapy.   We need to fund this as soon as possible so that it can be adminstered to children like Spencer.  It's their only chance at LIFE  before this severe dementia sets in, followed by life.

Because Sanfilippo is a rare disease, it hasn't attracted interest from big pharmaceutical companies. That means it's up to the families of those suffering to fundraise for the clinical trials that could lead to a cure. With your generosity, we have a chance to help Spencer and other children suffering from Sanfilippo.  

Please considering donating today. All funds raised go to the Cure Sanfilippo Foundation, a group of families across America helping to fundraise for these important clinical trials. 

No donation amount is too small! All donations are tax-deductible.

Want to know more about Spencer? Follow him on Facebook at My Pal Spencer .  And share our campaign!


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Original Story

Like all toddlers, I love to splash in the pool with my daddy, dance in the yard with my mommy, and pet every puppy dog I can get my hands on. But unlike most boys and girls, I'm battling MPS-III, commonly known as Sanfilippo Syndrome.

Sanfilippo Syndrome is a genetic neurological disorder that can be easily understood as the childhood Alzheimer's. Both are a death sentence, but where Alzheimer’s strikes people toward the end of their lives, Sanfilippo attacks kids just as they have begun to learn to walk and talk. Also unlike Alzheimer’s, Sanfilippo is considered an "orphan disease," which means there isn’t enough incentive for drug companies to pursue a cure.

There are several teams of researchers around the world who are studying ways to treat Sanfilippo kids like me who lack an enzyme that breaks down complex chains of glucose. Sadly, some of the treatments already put through clinical trials have not panned out. What this means is that without more awareness of this terrible disease, and crucially, the money to fund more research, many kids with Sanfilippo will die as their peers head off to high school.

I don't want to be one of them.

I don't want to stop being able to walk. Or talk. And eventually, to swallow. All of which could begin happening, progressively, as early as the year I should be entering kindergarten.

I want to live.

I hope you will help me in this fight.

Follow me on Facebook (My Pal Spencer #mpsIII is Fighting to Cure Sanfilippo Syndrome). Please like and share my page! 



All donations will go to the not-for-profit Cure Sanfilippo Foundation, a 501(c)3, and will be used for research to find a cure.  Donations are tax-deductible tax ID (46-4322131).


I've been learning sign language since I got my hearing aids last summer. "Please" was one of the first signs I learned. 



The Goldfish Photo. It's one of my dad's favorites of me! (credit: Dahlia Rin) 





 
Told you I love puppy dogs!!!

Sanfilippo Syndrome have you ever heard of it? 

Gene Therapy have you ever heard of it?

If No, than consider yourselves fortunate.

The children and families suffering from rare genetic diseases are not so fortunate.  Parents of terminally ill children love their children everyday as if each day could be their last.

Sanfilippo Syndrome is a horrible genetic disease, caused by a gene mutation that stops a specific enzyme from doing it's job. Without the enzyme, children slowly loose all of their skills that they had learned from talking, walking, eating everything goes and they die.

Gene Therapy is a treatment that binds a virus to the missing enzyme. The virus delivers the missing enzyme to the children.

Sanfilippo Syndrome type C is ultra rare, occurring in 1 in 1.5 million births. Most drug companies don't see the financial value in producing and commercializing a drug for our dying children. 

It's up to the parents of Sanfilippo children to fight their fate!

Ten years ago a group of foundations across the world found each other and banded together to find and then fund millions of dollars towards research and a treatment for Sanfilippo Syndrome type C.  H.A.N.D.S. 

Our scientists have proof of concept  and we are now ready to manufacture our vector in large quantities so that we can conduct a clinical trial. For this we need your help in funding!

Be part of something that you can smile about.  Help our Sanfilippo type C families fund the production of a drug that will halt this disease for many of our surviving  children and save the lives of the next generation to come.

Translations: Spanish, German, French and Portuguese below video.



Spanish
Síndrome de Sanfilippo ¿has oído hablar de esta enfermedad?

Terapia génica ¿Has oído hablar de este tipo de terapia o tratamiento?

Si no, entonces considérate afortunado.

Los niños y las familias que padecen enfermedades genéticas raras (enfermedades huérfanas) no son tan afortunados. Los padres de niños con enfermedades terminales aman a sus hijos y cada día los tratan como si pudiera ser el último.

El síndrome de Sanfilippo es una enfermedad genética horrible, causada por una mutación genética que impide que una enzima específica haga su trabajo. Sin la enzima, los niños pierden lentamente todas sus habilidades aprendidas, como: hablar, caminar, comer, etc, hasta causarles la muerte.

La terapia génica es un tratamiento que une un virus a la enzima faltante. El virus entrega la enzima faltante a los niños.

El síndrome de Sanfilippo tipo C es extremadamente raro y ocurre en 1 de cada 1.5 millones de nacimientos. La mayoría de las compañías farmacéuticas no ven el valor financiero en la producción y comercialización de un medicamento para nuestros niños moribundos.

¡Depende de los padres de los niños con Sanfilippo luchar contra su destino!

Hace diez años, un grupo de fundaciones de todo el mundo se encontraron y se unieron para encontrar y luego financiar millones de dólares para la investigación y un tratamiento para el Síndrome de Sanfilippo tipo C.    H.A.N.D.S.

Nuestros científicos tienen pruebas de concepto y ahora estamos listos para fabricar nuestro vector en grandes cantidades para que podamos llevar a cabo un ensayo clínico. Para esto necesitamos tu ayuda en la financiación!

Sé parte de algo sobre lo que puedas sonreír. Ayude a nuestras familias Sanfilippo tipo C a financiar la producción de un medicamento que detendrá esta enfermedad para muchos de nuestros niños sobrevivientes y salvará las vidas de la próxima generación.

German
Waren Sie schon einmal mit dem Sanfilippo Syndrom konfrontiert?

Haben Sie sich mit dem Thema Gentherapie auseinandersetzen müssen?

Wenn nicht, dann können Sie sich glücklich schätzen.

Familien, die von seltenen genetischen Erkrankungen betroffen sind, haben weniger Glück.
Eltern todkranker Kinder verbringen jeden Tag mit ihren Kindern, als könnte es der letzte sein.

Das Sanfilippo Syndrom ist eine folgenschwere genetische Erkrankung, die von einer Genmutation
verursacht wird. Diese hindert ein spezifisches Enzym daran, seine Aufgabe zu erfüllen. Ohne
dieses Enzym verlieren die Kinder langsam alle bereits erworbenen Fähigkeiten von der Sprache
über das Gehen bis hin zur Fähigkeit selbstständig zu essen. Am Ende steht der Tod.

Die Gentherapie ist eine Behandlungsmethode, bei der ein Virus durch einen Vektor an das
defekte Gen angebunden wird, der den Kindern das fehlende Enzym liefert.

Das Sanfilippo Syndrom Typ C ist extrem selten. Es kommt nur bei einer von 1,5 Millionen
Geburten vor. Die meisten Pharmafirmen sehen keinen wirtschaftlichen Nutzen darin, ein Heilmittel
für unsere sterbenden Kinder zu produzieren und zu vermarkten.

Es ist also an den Eltern der Kinder für ihr Schicksal zu kämpfen.

Vor zehn Jahren hat sich eine Gruppe von Stiftungen gefunden und zusammengeschlossen um
Millionen von Dollar für die Forschung zur Entwicklung eines Heilverfahrens für das Sanfilippo
Syndrom Typ C aufzubringen: H.A.N.D.S.

Unsere Wissenschaftler haben den Machbarkeitnachweis (Proof of Concept) erbracht und wir sind
jetzt bereit, den Vektor in größerer Anzahl herzustellen, um die klinischen Tests durchzuführen.
Dafür benötigen wir Ihre Hilfe.

Seien Sie Teil von etwas auf das sie stolz sein können. Helfen sie den Sanfilippo Typ C Familien
die Herstellung eines Heilmittels zu finanzieren, dass die Krankheit in den betroffenen Kindern
aufhalten und zukünftige Betroffene retten kann.

French
 

Le Syndrome de Sanfilippo En avez-vous entendu parler?

La Thérapie Génique En avez-vous entendu parler?

Si non, vous avez de la chance.

Les enfants et familles qui souffrent de maladies génétiques rares n'ont pas cette chance. Les parents d'enfants souffrants les aiment tous les jours comme si ça pouvait être leur dernier.

Le Syndrome de Sanfilippo est une maladie génétique horrible, causée par une mutation génétique qui empêche une enzyme spécifique de réaliser sa fonction. Sans cette enzyme, ces enfants perdent peu à peu leurs facultés telle la parole, la possibilité de marcher, de manger. Eventuellement c'est une perte motrice en chute libre qui se termine avec une mort prématurée. 


La thérapie génique est un traitement qui attache un virus a l'enzyme en question. Ce virus permet à ces enfants de retrouver cette enzyme manquante.

Le syndrome de Sanfilippo de type C est une maladie très rare. Seulement 1 naissance sur 1,5 million. La plupart des compagnies pharmaceutiques ne voient pas d'intérêt financier à produire et commercializer un remède pour ces enfants.

C'est donc aux parents d'enfants Sanfilippo de se battre! 

Il y a dix ans, plusieurs fondations à travers le monde se sont trouvées et réunies sous le nom de H.A.N.D.S. pour trouver et financer des millions de dollars de recherche pour trouver un traitement pour le syndrome de Sanfilippo de type C.

Nos scientifiques ont abouti leur recherche et nous sommes maintenant prêts à créer un vecteur en grandes quantités pour pouvoir passer aux essais cliniques. Pour ceci, nous avons besoin de votre soutien financier!

Faîtes partie de quelque chose de beau. Aidez nos famille Sanfilippo de type C a financer la production d'un remède qui puisse arrêter la progression de la maladie de leurs enfants, et sauvez les vies de la prochaine generation. 

Portuguese
Já ouviu falar da Síndrome de Sanfilippo?

Já ouviu falar de Terapia Genética?

Se nunca ouviu falar em nenhum deles, considere-se uma pessoa com sorte.
As famílias e crianças que sofrem de doenças genéticas raras não são tão afortunadas. Pais de
crianças com doenças terminais olham para os seus filhos todos os dias, como se cada dia
fosse o último.

A Síndrome de Sanfilippo é uma doença genética terrível, causada por uma mutação num
gene, que impede uma enzima específica de degradar açúcares. Sem a enzima, as crianças
perdem lentamente todas as suas capacidades, desde falar, andar, comer, sendo a doença
fatal.
A terapia génica é um tratamento em que a enzima em falta é colocada num vírus ou vetor. O
vírus entrega a enzima que falta às crianças.
A síndrome de Sanfilippo tipo C é uma doença ultra rara, com incidência de 1 em 1,5 milhão de
nascimentos. A maioria das empresas farmacêuticas não tem interesse na produção e
comercialização de um medicamento para uma doença tão rara.
Cabe aos pais das crianças Sanfilippo lutar contra o seu destino!

Há dez anos atrás, um grupo de fundações de todo o mundo juntou esforços para angariar e
depois financiar milhões de dólares para desenvolver um tratamento para a Síndrome de
Sanfilippo tipo C. H.A.N.D.S.

Os nossos cientistas fizeram a investigação pré-clínica e agora estamos prontos para avançar
para a produção do nosso vetor em grandes quantidades, para que possamos realizar um
ensaio clínico. Para isso, precisamos da sua ajuda!

Faça parte de algo que o faça sorrir. Ajude as nossas famílias Sanfilippo tipo C a financiar a
produção de um tratamento que mudará o destino dos nossos filhos e salvará vidas nas
próximas gerações.

__________________________________________________________________________________________________________________________
More information about Cure Sanfilippo Foundation : Cure Sanfilippo Foundation works to fund urgent research for treatments or a cure for Sanfilippo Syndrome. Sanfilippo is rapidly degenerative.

Jonah's Just Begun  (JJB), raises funds under Cure Sanfilippo Foundation (CSF) a 501c3 not-for-profit.  JJB has terminated it's 501c3 status and joined forces with CSF. JJB Co-Founded: H.A.N.D.S., Mission Hide and Help and ConnectMPS.org 

A big thanks to our scientists and their lab members that have stood by us and work everyday towards a treatment: Dr. Alexey Pshezhetsky and his lab at Sainte-Justines, Montreal, Dr. Brian Bigger and his lab at Manchester University, Dr. Patricia Dickson at WASU and Tsui-Fen Chao at LABiomed. Special mention to: Dr. Claire O'leary thank you for your dedication.

A special thanks to: CBS, Jonny Lee Miller and Kristine Johnson. Our families greatly appreciate all your help in fundraising and raising awareness. #CUREmps #CUREsanfilippo #CUREmpsIIIC

Six-year-old Grey hosted her first "Purple Lemonade Stand" after her sister Blair was diagnosed with Sanfilippo Syndrome, a rare, genetic disorder that slowly takes away a child's ability to walk, talk, and care for oneself with a life expectancy in the teens. The goal of the Purple Lemonade Stand was to raise funds and awareness for Sanfilippo Syndrome.

The fundraiser has been hosted annually each Spring and with the support of our community, thousands of dollars have been raised to help fund a cure for Sanfilippo Syndrome. It is up to the families of these children to continue raising funds for research.

Grey's sister Blair passed away in April of 2017 at the age of 15. Grey continues her efforts in hopes that other families won't have to go through what hers did.

April 2020 would have been the tenth anniversary of the Purple Lemonade Stand. Due to COVID-19, the special event was cancelled. Unfortunately, while much of the world has paused this year, the disease continues to progress. 

With the help of Grey's club at school, Students Stand for Courage, we are excited to host the first ever Drive-Through Purple Lemonade Stand! If you are unable to attend the fundraiser in person, please consider donating here. 100% of your donation will go to the Cure Sanfilippo Foundation.

Learn more at PurpleLemonade2020.com.

Every single dollar raised here has, and continues to go to Cure Sanfilippo Foundation, a 501c3 nonprofit (tax ID: 46-4322131).  Donations are tax deductible.  Cure Sanfilippo has a mission to advocate and fund research directed toward a cure or treatment options for children with Sanfilippo Syndrome.  In short, we fund research to save children via treatments & clinical trials.  No dollars ever go to or for any particular family or child.   We tell individual stories, for the greater cause and mission....which is to cure this terrible fatal brain disease in little children, often referred to as a Childhood Alzheimer's.  Our deepest and humble thanks for visiting this page and considering support.  You are our hero!   Glenn O'Neill (Dad, Donor and President of Cure Sanfilippo Foundation)  [email redacted] (anytime)
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When:  10 Days from Nov 6-16th.  
Goal:  Raise $300,000
How:  4,000 supporters donating $77 each (although every bit helps)

Why? 
Saving Children's Lives is one of the most noble efforts in the world. If you've been  one of our supporters who has given or shared over the years, you've directly been part of this effort and we THANK YOU again immensly. Our daughter Eliza and other children now have a chance at LIFE, thanks to you!  There are MANY MORE kids that need this chance, before its too late, as they are taken away from their parents in front of their eyes.  Sanfilippo Syndrome, is like a rapid childhood Alzheimer's.  As a parent, you just begin to start getting to know your beautiful child's personality around age  3-4, and then it is all taken away. The disease is terminal with no current cure or treatment, but HOPE exists in these clinical trial paths, which lack funding. That is the HOPE you gave my daughter Eliza as she was treated in a clinical trial.  We must save these children, and it must be NOW for chidren like Sawyer, Rylan, Keira, Spencer, Carter & Abigail...just to name a few.   


If you've never heard of Sanfilipo Syndrome, please watch the 3 minute video here:  


Eliza’s “Cinderella themed” birthday is going to be incredible this year! We are fortunate to be able to place that 7th candle on her cake with tears of joy and hope, instead of only dread and fear for what her future would hold. For Sanfilippo parents, the truth is that without a treatment, birthdays are terribly difficult reminders of what is to come. Watching your child go backward and lose more and more skills each year is unbearable. It is like taking candles off the cake each year as your child slips away. There are so many little Sanfilippo princes and princesses that are hoping for a chance at LIFE. There is no better gift for Eliza’s birthday, than to help give her friends a chance at LIFE, by being one to donate $77…and for these children, it must be NOW before it is too late


This year is a celebration of LIFE and a CALL TO ACTION for Sanfilippo children everywhere.  

Our goal is to raise $300,000 in 10 DAYS, from November 6-16th.   How?  We need 4,000 supporters donating $77 by Eliza's 7th Birthday!  We need you to #Give77 and help this to go #viral by sharing.  And please don't just share, but if you would validate this cause with some comments about the importance and how you've helped already. 

The funding goes directly to Cure Sanfilippo Foundation toward urgent research and treatment options for children (and is tax-deductible). This degenerative disease Sanfilippo Syndrome, like a 'Childhood Alzheimer's', CAN be stopped in children.  

We must save them and we can't do it without EACH of you.  BE ONE of our 4,000 donors and help Eliza's freinds have a chance at LIFE.  These precious Sanfilippo princes and princesses need your help. #Give77 today!

Our deepest THANKS!

The O'Neill Family and Cure Sanfilippo Foundation 

PS: By helping here, you are continuing to save children's lives.  Every child pictured (and many more) are just hoping for a chance at life.

#Give77

Cure Sanfilippo Foundation is a 501c3 non-profit (Tax ID: 46-4322131).  All donations are tax deductible.  Visit www.CureSFF.org for more information on the Foundation.

Thusfar, supporters, freinds and families like you have allowed Cure Sanfilippo Foundation to drive Sanfilippo research forward at an unprecedented pace.  You've helped fund 8 research grants, one treatment center, and one project which is now in clinical trial and treating children.  We race forward urgently as we continue to hear the heart-wrenching stories of pain, suffering, and loss from Sanfilippo.  We have much more work to do.  

 

Our son Carter who is four years old was diagnosed with Sanfilippo Syndrome type A this past May.  Sanfilippo syndrome is a rapid degenerative and terminal disease in children.  It's like alzheimer's and there is currently no cure, but there are clinical trials, testing, and hopeful treatments are starting.  

We created this challenge to help raise money and awareness for this rare and fatal disease in children.  We are hopeful that with your help, we can find a cure for all types of Sanfilippo Syndrome and give these children a chance at life!  

All donations will be going to the Cure Sanfilippo foundation and used to fund more options for children in clinical trials.  Also, all donations are tax-deductible!!!! 

There are many more children that need treatment than there are spots in trials.  
Please help us give Carter and many other kids a chance at life, we don't want to lose our baby boy.                    

So how can you help us...
Two years ago this summer, you likely participated in the ‪#‎ALSIceBucketChallenge‬ and helped them raise $110 Million for research for a cure.  Will you now participate in our ‪‬ ‪#‎Splash4Life‬ challenge to ‪#‎CureSanfilippo‬, in our effort to raise $5 Million to give children a chance at life? Your participation is the only way this will go viral, and we thank you for helping.   

You do not need to participate to donate! Even if you can only donate a dollar, anything helps!!!

There are two ways you can play!  The rules are simple and both need 2 players for these fun outdoor games for a great cause!! 

Option 1-The Original :  


1) set one or a few cups filled with water on both ends of table for each player.
2) each player gets 2 shots to try and make the ping pong balls in the cups.

3) player with most points gets to splash the other player.  The looser is asked to donate at least $10 on Splash4Life.com.  Please nominate at least 2-3 other people and tag your videos with #splash4Life.

**If tied (0-0, 1-1, 2-2) both players splash each other at the same time and we ask both to please donate.

To watch another example game please Click Here 


Option 2- Don't have cups or ping pong balls??? That's ok option 2 is for you!!!!

1) Grab a friend, partner, child, whoever you can. 
2) Play one game of Rock, Paper, Scissors
3) The player who wins gets to splash the other player with water from a cup, hose, bucket…use your imagination the sky is the limit!! The looser is asked to donate at least $10 on Splash4Life.com. Please nominate at least 2-3 other people and tag your videos with #splash4Life.

For an eample, please watch the clip above :) 

Please video and post your ‪#‎Splash4Life‬ challenge and most importantly tag & challenge 3 friends. Support and donate to this great cause!  

For more information on this urgent cause to cure Sanfilippo Syndrome, a fatal and rapidly degenerative neurological disease in children, visitwww.CureSFF.org

You do not need to be nominated in order to participate. If this inspired you please, lend us your voice to help find a cure for these children!! Challenge a friend and others to participate so you can get it up and running in your community.

Everyday these children are at risk of loosing major motor and developmental skills they already have acquired and a day closer to their untimely deaths.
Please, help us and be apart of finding a cure for these children!

Sometimes it's ok to be a follower... To follow Carter's Story please find his information below.
FB:  Carter's Challenge 
Instagram: @carterschallenge
Twitter: @carterchallenge
SnapChat: Carterchallenge
Website: Carterschallenge.com 
#Splash4Life #curesanfilippo #curesanfilipposyndrome 
#curesff  #careaboutrare #viral

My name is Luke McMahon and I am 15 years old.  Since preschool Blair Chapin has been my friend.

Blair is an amazing person.   Anyone who knows her, knows she has an infectious smile that lights up our world.  Blair is also a fighter.   She is battling a rare disease called Sanfilippo Syndrome.   It is a degenerative cell disease with no cure today.

Blair turns 15 on December 21, 2016.  We want to make it a big celebration.

Music is one of the things that brings Blair so much joy.  She loves it, she always has.

I wrote this song called "I Won't Let Go" for Blair, to let her know I will always be here fighting by her side.

Right now there is no cure for Sanfilippo Syndrome, but there is promising research and a cure is within reach!

If you feel led, please lend your support to 
CURE SANFILIPPO FOUNDATION and share this video. 

Together, I hope we can make a difference for Blair.  

Thank you,  
Luke

Help spread the word!

For more information on the 501c3 nonprofit, Cure Sanfilippo Foundation, and Blair's story, please visit www.CureSFF.org/Blair.  

Preschool photo of Me and Blair


Blair's Beautiful Smile!
My Letter to Blair's Parents