Hello Everyone!

I am excited to invite you to our 3rd Annual Move for Malan fundraiser!

Since my younger sister, Aashni, was diagnosed with Malan Syndrome in 2023, we have hosted this event to raise awareness and support for individuals around the world living with this ultra rare disease.

With your support, Aashni has accomplished so much over the past three years:

• She has graduated from middle school in 2026 with a rigorous public school curriculum and will begin high school this year.
• Aashni has been part of the competitive and year-round USA swimming program, and she continues to grow stronger in the pool each year.
• Aashni is surrounded by supportive friends, family, and teachers which continues to be the foundation for her growth.  Her happiness while singing and dancing to Taylor Swift and Michael Jackson (and sometimes even rap music that I absolutely do not approve), is just contagious!

Thanks to your donations, the Malan Syndrome Foundation partnered with the Children's Hospital of Philadelphia (CHOP) to open the first-ever Malan Syndrome Care Clinic. The clinic provides immediate benefit through better clinical knowledge and better coordination of complex care. This infrastructure will make treatment development and potential cure more feasible.  

The 3rd Malan Syndrome Family and Scientific Engagement Conference was held at CHOP in Philadelphia in July 2026, our best one yet! The Malan Syndrome Foundation welcomed more than 220 attendees comprised of families, physicians, researchers, scientists, and industry partners, including 68 Malan syndrome families from 8 countries, both in person and virtually.  After the conference, Aashni was seen by various specialists at the CHOP Malan Syndrome Care Clinic along with other Sunflowers.  The families left with a few more answers, support, and hope for a brighter future for all of our Malan Sunflowers.

Please join my family in celebrating all that our Sunflowers have achieved and in supporting our community as we work toward a better world for my wonderful sister and her fellow Malan Sunflowers.

With love and gratitude,

Sohum

What is Malan syndrome?

Malan syndrome is a rare, genetic neurodevelopmental disorder caused by a mutation in the NFIX gene on chromosome 19. The NFIX gene is a protein-coding gene that plays an essential role in brain and musculoskeletal development. Currently, there are only ~400 people in the world diagnosed with Malan syndrome. However, it is estimated that thousands of people with the disorder remain undiagnosed.

The clinical features of Malan syndrome vary but may include:

• Tall and thin stature
• Macrocephaly (large head size)
• Distinct craniofacial features
• Intellectual disability
• Hypotonia
• Speech delay
• Vision and/or hearing impairment
• Seizures
• Skeletal anomalies, including scoliosis
• Chiari malformation
• Connective tissue disorder
• Joint hypermobility
• Sleep disturbances
• Behavioral challenges