It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they found out Levi has Jansen’s metaphyseal chondrodysplasia — an extremely rare form of dwarfism. “The hardest…
A newly identified mutation is the probable cause of X-linked hypophosphatemia (XLH) in a young girl, according to recent case report. The study, “X-linked hypophosphatemic rickets: a new mutation,” was published in the Brazilian Journal of Nephrology. XLH is caused by mutations in the gene …
One-year treatment with Crysvita (burosumab) reduced bone damage and increased phosphate levels in children and adolescents with X-linked hypophosphatemia (XLH), a study showed. The study, “Real-life clinical study: 1-year of treatment with burosumab of children and adolescents affected with X-linked hypophosphatemia,” was presented online at…
The Virtual XLH Week 2020, a series of online events bringing together people with X-linked hypophosphatemia (XLH), their families, caregivers, and healthcare professionals, is open for registration. Organized by the XLH Network, the virtual week will run Oct. 3–10. Those wishing to take part need to register here…
The International Osteoporosis Foundation (IOF) has given its first five Skeletal Rare Diseases Academy Awards to researchers working on rare bone disorders, including X‐linked hypophosphatemia (XLH). Selected by a panel of academy members, the awardees received a certificate along with a grant totaling $1,000 in recognition of…
Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…
The International Osteoporosis Foundation (IOF) has launched a global initiative to increase awareness and understanding of rare skeletal diseases such as X-linked hypophosphatemia (XLH). Called the IOF Skeletal Rare Diseases Academy, the initiative was announced ahead of this year’s World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases. Funded by…
Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…
Most children with X‐linked hypophosphatemia (XLH) have complex deformities in their lower limbs that cause significant gait abnormalities, a study has found. Notably, a distinctive gait problem called “waddling gait” — moving the trunk sideways while walking — is a major mechanism to compensate for bowed legs, and…
The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…
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