Keep your face to the sunshine and you cannot see the shadow, it's what sunflowers do.

-Helen Keller

NEWLY DIAGNOSED FAMILIES

Welcome Packet

The Newly Diagnosed Family Welcome Packet contains information to help navigate the rare journey with Malan syndrome. Sections include an overview of Malan syndrome, school/therapy guidance, Medicaid waivers (US-based families) and parent education/support resources. If you would like to receive the Welcome Packet, please email us at info@malansyndrome.org.

Understanding Your Child's Genetic Report

A one-page reference guide can be downloaded here. A webinar on how to interpret your child's NFIX gene variant can be viewed here.

NORD Disease Report- Malan Syndrome

The National Organization for Rare Disorders (NORD) provides non-technical reports on rare disorders. The Malan syndrome report in English can be viewed here. The report is also available in Spanish and Portuguese.

Unique Guide- Malan Syndrome (published November 2024)

Unique is a UK nonprofit and provides family-friendly information guides on rare chromosome and gene disorders. The Malan syndrome guide can be viewed here.

Prep Guides: Parent Preparation for Specialists Visits (*New resource, 2025)

This resource is designed to support parents/caregivers in preparing for medical appointments. Each guide includes frequently asked questions to consider before your appointment, relevant publications that your specialist may find helpful, and important points to consider when discussing Malan syndrome and related health needs.

PARENT SUPPORT GROUP

This support group is intended for parents (or primary caregivers) of individuals with a confirmed diagnosis of Malan syndrome. If you would like to be added to this secure WhatsApp group, please email us at info@malansyndrome.org. By participating in this online group, you agree to the Parent Support Group and Community Guidelines found here.

To learn more about WhatsApp, click here.

MALAN SYNDROME FOUNDATION INFORMATION CARD- PRINTABLE

Click here to download.

MALAN SYNDROME PROFESSIONAL GUIDE- PRINTABLE

English version
Spanish version
French version
Portuguese version
Italian version
Dutch version

PARENT SOCIAL HOURS

These virtual social hours provide an opportunity to meet other parents and caregivers with children affected by Malan syndrome. Chat, vent, discuss child development, parenting concerns and exchange ideas in a welcoming and safe space.

HELPFUL ONLINE RESOURCES

Communication

Apraxia Kids A comprehensive website for information on childhood apraxia of speech and children's speech and language topics, including evaluation, speech therapy, research and other childhood communication issues. PrAACtical AAC PrAACtical AAC (Augmentative & Alternative Communication) supports a community of professionals and families who are determined to improve the communication and literacy abilities of people with significant communication difficulties.
Vision and Hearing

CVI Hub Cortical Visual Impairment (CVI) is a brain-based visual impairment. Perkins is leading the way in educating families and professionals about CVI. CVI Scotland CVI Scotland is devoted to helping people understand cerebral visual impairments, providing tremendous resources for parents and educators. Pediatric Cortical Visual Impairment Society (PCVIS) PCVIS was created to advocate for children with Cortical Visual Impairment (CVI), heighten public awareness and promote research and other activities that lead to improvement in vision care for children with CVI. National Center on Deaf-Blindness Does your child have both vision and hearing loss? Contact your state deaf-blind project for information and assistance. Your child may qualify for additional therapy services. Veda Veda is a highly respected source of information on vestibular disorders.
Seizures

Epilepsy Foundation- Seizure First Aid and Recognition The Epilepsy Foundation provides trainings on how to recognize signs of a seizure and how to use basic first aid steps. Seizure Action Plan Coalition A Seizure Action Plan contains tailored guidelines on how to respond during a seizure, based on the patient’s medical history. It includes health and medical information specific to the patient and helps others recognize seizures and the appropriate steps to take to keep him or her safe from injury or damage caused by prolonged seizures.
Special Needs Parenting

Abilities A valuable resource for the disability community. Global Genes RARE Toolkits These toolkits provide information on a variety of topics related to living with and/or advocating for individuals with rare syndromes. The Mighty The Mighty is a digital health community created to empower and connect people facing health challenges and disabilities. Wonderbaby.org An online community of parents and caregivers who are living with the challenges and joys that come with special needs parenting. This website is dedicated to helping parents of young children with visual impairments as well as children with multiple disabilities.
Genetics

American Society of Gene and Cell Therapy Parent Education Glossary of terms National Institutes of Health (NIH)- Genetics Home Reference An introduction to topics related to human genetics. Genetic Testing: Is this my path to a diagnosis?- Global Genes RARE Toolkits Learn about the many genetic testing options for individuals seeking a diagnosis.