Resources: Community Resources
Discover a wealth of resources curated by our community.
Our collection includes valuable information and materials created in collaboration with parents, doctors, and researchers. Stay informed, empowered, and connected with the latest insights and resources related to Lesch-Nyhan syndrome.
If you have something you’d like to add, just let us know!
Community Resouces
You are here (read below)
Global Contacts
Lesch-Nyhan Community Resources
General Lesch-Nyhan Information
HPRT1 Disorders Synonyms: HGprt Deficiency, HPRT Deficiency, Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Hyder A Jinnah, MD, PhD.
IDC code for Lesch-Nyhan is E79.1
Purines, HPRT, & Uric Acid Lesch-Nyhan.Org
Teeth Removal
Behavior Help
Department of Health and Human Services Centers for Medicare & Medicaid Services (page 71405)
Matheny Articles written by Dr. Gary Eddey (please note Dr. Eddey is no longer accepting phone calls at the number listed in the articles)
Modes and patterns of self-mutilation in persons with Lesch-Nyhan disease
Kenneth L Robey 1, John F Reck, Karen D Giacomini, Gabor Barabas, Gary E Eddey
Standards for Joint Commission Accreditation and Certification | The Joint Commission Type in your ‘State’ and Lesch-Nyhan for regulations
HPRT1 Disorders Synonyms: HGprt Deficiency, HPRT Deficiency, Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Hyder A Jinnah, MD, PhD.
Hospital Settings Lesch-Nyhan.Org
Health
https://yoursexualhealthtoolkit.org/how-to-use-this-toolkit/
Note for Families and Caregivers:
This Sexual Health Toolkit was created to provide supportive and educational information around sexual health, relationships, and body awareness for individuals living with a disability. We recognize that families and caregivers have diverse values, beliefs, and comfort levels around these topics.We encourage you to preview the materials first to ensure they align with your values and to help determine whether the content is age-appropriate and supportive for your loved one.
Our goal is to offer tools that respect each family’s unique needs while promoting dignity, safety, and well-being. See link to learn more about who should use this toolkit and how to use it. There are special tips at the end of this page for youth, parents and caregivers, and disability support professionals.
Social
https://www.bestbuddies.org/ Best Buddies International is a nonprofit 501(c)(3) organization dedicated to establishing a global volunteer movement that creates opportunities for one-to-one friendships, integrated employment, leadership development, inclusive living, and family support for individuals with intellectual and developmental disabilities (IDD).
https://www.specialolympics.org/ Every day, Special Olympics events are taking place around the globe transforming the lives of millions of individuals with intellectual disabilities both on and off the playing field.
Diagnosis
Global Genes Genetic Testing: Is this my path to Diagnosis
For Doctors
LND Websites
Social Media
Facilities/Organizations
Monarch Initiative Lesch Nyhan Information
Caregiver Support/Guidance/Advocacy Organizations
Courageous Parents Network For more than a decade Courageous Parents Network, a nonprofit organization, has oriented, equipped and empowered those caring for children with a serious medical condition.
Remember the girls is committed to advocating for females impacted by X-linked conditions.
Medicaid Waivers
Katie Beckett waiver, many states in the US have Medicaid waivers that allow children under the age of 19 who have complex medical needs or long-term disabilities to become eligible for Medicaid coverage. https://www.kidswaivers.org/
Financial Help
Help Hope Live Medical fundraising for the expenses insurance doesn’t cover
PAF This division of PAF offers one-on-one personal advocate services to patients battling serious disease. Our staff helps seek out options to overcome insurance denials, healthcare access issues and medical debt crisis challenges.
HealthWell Foundation When health insurance is not enough, we fill the gap by assisting with copays, premiums, deductibles and out-of-pocket expenses for essential treatments and medications.
Partnerships
Informational PDF
Lesch-Nyhan Handout for Printing and Sharing
Lesch Nyhan Information Welcome Packet
Global Genes Genetic Testing: Is this my path to Diagnosis toolkit
Guides, videos and other community shared items
Videos
Commonly Recommended Products
You’ll come to find the products that work best for your child over time, but these are some of the most commonly recommended products among LND families. Some of these items, like products from Special Tomato and Firefly, may be covered by your insurance.
Billy Footwear: BILLY Footwear incorporates zippers that go along the side of the shoes and around the toe, allowing the upper of each shoe to open and fold over completely. This allows the wearer to step into the shoe while wearing their AFO, then just zip it closed.
EazyHold: Soft silicone that attaches to many regular items and helps children and adults grip the item more securely.
Elbow Immobilizers: Most commonly used to prevent the hand from getting to the face during times of self injury.
Firefly Products: Clinically sound postural support solutions to enhance participation in everyday activities.
Special Tomato: These pediatric adaptive products incorporate soft design and comfort while providing the correct positioning and support children need.
Freedom Concepts Inc.: Featuring items like an adaptive bicycle, each Freedom Concepts product is thoughtfully designed and hand built to accommodate the needs of individuals living with limited mobility.
Despite the challenges, parents agree their children with Lesch-Nyhan are a joy. Here are frequent ways parents describe them, which seem to be consistent personality traits among most children with LNS.
“They are loving and full of smiles for strangers and friends alike.”
“They have strong auditory comprehension and understand everything said to them.”
“They are very outgoing and love being social.”
“They have a witty sense of humor.”
“They are so sensitive to the feelings of others, always asking “are you ok?” at just the right time.”
“They are warm and lovable.”
“They are highly socially intelligent.”
“They remember everything they learn and love to share their knowledge.”
Advice from Parents and LND Individuals
“Be prepared.
Just because today I'm smiling like an angel, in an hours time I might be trying to destroy myself Knowing that you won't get upset with me, that you will help me no matter what...
In EVERY LN person is a total angelic personality - you won't ever meet nicer people. Although sorry I'm a bit biased 😂😂” - John, 41 year old with Classic LND
“My main advice would be don't Google it and don't fully believe what the doctors etc say to you. We were given the absolute worst case scenario with Harley and the things we read on Google, broke our hearts. But, the young lad he's become is completely different and I wouldn't change him for the world. Also, don't forget about this group. Everyone will give you amazing advice and support and most important of all. Never forget that Love Never Sinks ⚓️❤️”- Stephen, parent of 9 year old with LND