Eliza is now 13 years old and was diagnosed at the age of three with a neurodegenerative disorder known as Sanfilippo syndrome. Eliza’s mother, Dr. Cara O’Neill, a pediatrician and…
We often hear people talking about the stress they are feeling during the holidays, while those in the rare disease community silently think, "You have no idea!" During this season,…
Enzyme replacement therapy (ERT) has been explored as a potential therapeutic option for mucopolysaccharidosis type III A (MPS III-A or Sanfilippo syndrome type A). However, these solutions have not…
Have you ever heard of a natural history study? In short, a natural history study studies people who have, or are at risk of developing, a specific medical condition;…
Seven years ago, David and Amber Negele married. The pair couldn’t wait to begin their blissful wedded life together. Just a few years after their marriage, David and Amber decided…
We often hear people talking about the stress they are feeling during the holidays, while those in the rare disease community silently think, "You have no idea!" During this season,…
Both the 3rd Annual Gene Therapy for Neurological Disorders meeting and the ADVANCE 2022 Sanfilippo Community Conference were held in July 2022. During both meetings, researchers presented new data from…
When Sophia Scott was growing up, her parents noticed that she was displaying a variety of different potentially concerning traits. They began undergoing some tests. Eventually, just one day before…
Fundraising is extremely important when it comes to rare disease research, and recently a community came together to help a little boy living with Sanfilippo syndrome. Simon is 5 years…
In 2019, Connor Dobbyn, now 13, was diagnosed with Sanfilippo syndrome type C, also known as mucopolysaccharidosis III (MPS III). After his diagnosis, his parents came to recognize that there…
We often hear people talking about the stress they are feeling during the holidays, while those in the rare disease community silently think, "You have no idea!" During this season,…
According to a story from Sanfilippo News, the healthcare tech company RDMD has recently announced that it has raised $14 million in Series A financing that will be dedicated towards…
The Connect MPS Patient Registry was created in 2016 to learn more about Sanfilippo syndrome and mucolipidoses (ML). 24 advocacy organizations are a part of this registry, all of which…
According to a story from metro.co.uk, Harley Bond was three years old when he was first diagnosed with Sanfilippo syndrome type B, a rare progressive genetic disorder. Now five years…
A New Partnership Patient Worthy is honored and excited to announce our new partnership with The B.L.A.I.R. Connection. The B.L.A.I.R. Connection was founded by Grey Chapin who knows firsthand what…
Terrence Merrill shares the challenging emotional realities of raising a child with Sanfilippo syndrome. You can read more background about the Merrill's battle against this rare disease in our article here.…
On the pages of the Abby Grace Foundation website, you will find over twenty beautiful pictures of different children. Most of the children are smiling. One looks into the camera…
The FDA approved a human study to be conducted by Swedish Orphan Biovitrum AB to treating mucopolysaccharidosis type lllA patients with a new drug called SOB1003, reported European Pharmaceutical Review. Not only…
On Tuesday night, children hit the streets for their Halloween candy quest. Because of her rare disease, Emily Sawyer, had to stay in. But that didn't stop the community from…
Recent findings from research done at the University of Pennslyvania indicate a new biomarker associated with a group of rare metabolic diseases called mucopolysaccharidoses (MPS). A biomarker is a measurable…
Being told your child has a rare disease is devastating. Then imagine being told that there’s absolutely nothing you can do about it. That was the reality for these parents,…
According to the Daily Mail, Harley Bond is a 4-year-old living in the UK. He has MPS III, or Sanfilippo Syndrome, a rare disease which has no treatment and no…
Lysogene, a biopharmaceutical company, announced at the end of May that enrollment in SAMOS (Sanfilippo A Multinational Observational Study) was completed. This is extremely exciting news for Sanfilippo syndrome (MPS…
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