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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 (*NEW; 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.

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.

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To learn more about WhatsApp, click here.

MALAN SYNDROME FOUNDATION INFORMATION CARD- PRINTABLE

Click here to download.

MALAN SYNDROME PROFESSIONAL GUIDE- PRINTABLE

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 Action Plan The Epilepsy Foundation of America provides extra information and resources on seizure actions plans (SAP) via the above link and their website.
  • 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
    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.
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