The Aarskog Foundation

What The Aarskog Foundation does

The Aarskog Foundation is a Scottish charitable organization, founded in 2017, that operates a patient-and-parent-run network serving individuals and families affected by Aarskog Syndrome, an ultra-rare genetic condition. The organization supports beneficiaries across 34 countries through a structured service portfolio that includes a free members-only online area, a UK freephone helpline (0800 001 6623), a closed Facebook peer-support group, Twitter/X presence (@AarskogSyndrome), and the six-step Aarskog Syndrome Care Plan Pathway (ASCPP) that guides families from initial symptom recognition through genetic testing to long-term disease management. Coordination with UK NHS medical genetics, global testing laboratories, cardiology, optometry, urology, and orthopedics specialists, as well as educational psychological assessments and family grants, round out the clinical-adjacent support offering.

The technology footprint is minimal and community-led: a WordPress/GoDaddy-hosted website, PayPal-integrated donations, email newsletter, and closed social groups. There is no proprietary software, no mobile app, and no AI/ML component - all patient support is human-mediated by a small team of 1-10 employees and volunteers. Distribution is exclusively digital and community-based, relying on organic social, content marketing, and word-of-mouth within the rare-disease community.

Funding comes from voluntary cash donations processed through PayPal and debit/credit card (monthly or one-off), branded merchandise sales, external grants, and community-organized fundraising events such as 5K races. Core patient services are free at the point of use; the organization also conducts advocacy with parliamentary groups and the broader #RareDisease community to campaign for equal rights, healthcare access, and educational support for affected patients.

Name

The Aarskog Foundation

Legal name

The Aarskog Foundation

Website

https://aarskogsyndromefoundation.co.uk

Company type

Private

Founded year

2017

Operating status

Operating

Headcount range

1–10 employees

Short description

The Aarskog Foundation is a Scottish charity, founded in 2017, that runs a patient-and-parent network across 34 countries providing free support services - including a freephone helpline, members-only area, closed Facebook group, and the six-step Aarskog Syndrome Care Plan Pathway - to individuals and families affected by Aarskog Syndrome, a rare genetic condition.

Ownership category

akta.pro rank

Product category

Rare Disease Patient Advocacy and Support Services

NAICS

Voluntary Health Organizations (813212), Other Individual and Family Services (624190)

SIC

Services-Social Services (8300), Services-Misc Health & Allied Services, Nec (8090)

akta.pro primary industry

Rare Disease & Special Needs Support Organizations (BPAGACAM)

Keywords

• Rare disease patient support
• Genetic condition advocacy
• Patient helpline services
• Care plan pathway
• Community health charity

Headquarters

HQ city

Scotland

HQ country

United Kingdom

HQ region

Europe

Offices1 record

Markets served

GTM type

B2C

Offering type

Services

Cost components

Personnel, Operations, Technology or R&D, Marketing or Sales, Others

Revenue model

1. Donations and Fundraising: Monthly cash donations through PayPal or debit/credit card. Fundraising events organised by supporters to raise money and awareness.
2. Merchandise Sales: Sale of branded merchandise including t-shirts, backpacks and other items with the foundation logo.
3. Grants: Grants available to support patients and families living with Aarskog Syndrome.

Go-to-market motion1 record

Distribution channels4 records

Marketing channels5 records

Core offering

The Aarskog Foundation operates a patient and parent-run support network for individuals and families affected by Aarskog Syndrome, an ultra-rare genetic condition. It delivers free patient services including a members-only resource area, freephone helpline (0800 001 6623), the six-step Aarskog Syndrome Care Plan Pathway (ASCPP), genetic testing coordination, educational psychological assessments, multi-specialist healthcare referrals, grants, and a closed Facebook peer-support community. Funding is generated through donations, merchandise sales, grants, and supporter fundraising events.

Product overview

The Aarskog Foundation is a Scottish charitable organization operating a patient and parent-run network that supports children and families living with Aarskog Syndrome across 34 countries. The organization offers a unified support ecosystem comprising: a members-only area with educational resources, a freephone helpline (0800 001 6623), the Aarskog Syndrome Care Plan Pathway (a six-step diagnostic and management guide), genetic testing coordination, educational psychological assessments, healthcare specialist referrals, grant assistance, and an online community via closed Facebook group. Fundraising operations include a PayPal-integrated donation platform, merchandise sales, volunteer opportunities, and organized fundraising events. The foundation also conducts advocacy work within the rare disease community to promote patient rights and awareness.

Differentiator

Problem solved

Functional benefit

Products and services

• Aarskog Syndrome Care Plan Pathway (ASCPP) A structured six-step care pathway guiding families from initial symptom recognition through GP consultation, geneticist referral, diagnostic testing, primary and specialist care, and long-term complication management for Aarskog Syndrome. Provided free to patients and families.
• Freephone Helpline (0800 001 6623) A free telephone helpline providing support, information, and guidance for patients, carers, and families affected by Aarskog Syndrome.
• Members-Only Area A free online members-only area with simple registration providing exclusive resources, educational assets, and support materials for families and individuals affected by Aarskog Syndrome.
• Genetic Testing Support Pre and post genetic testing support including referrals to medical and clinical genetics services in the UK and connections to global testing labs to help confirm Aarskog Syndrome diagnoses.
• Educational Psychological Assessments Psychological assessments at primary level designed to identify special educational needs support and prepare young Aarskog children with tools required for high school and future development.
• Healthcare Specialist Coordination Coordination of specialist care across cardiology, optometry, urology, and orthopaedics depending on the individual patient's needs.
• Patient Grants Programme Grants available to support patients and families living with Aarskog Syndrome.
• Online Community (Closed Facebook Group) A closed Facebook group providing peer support and community connection for families and individuals affected by Aarskog Syndrome.
• Advocacy and Campaigning Services Advocacy work within the #RareDisease community alongside other patient organisations, charities, and parliamentary groups to campaign for the rights of those living with Aarskog Syndrome and other rare diseases.
• Donation Platform Online donation system accepting monthly recurring donations and one-time contributions via PayPal and debit/credit card.
• Merchandise Store Sale of branded merchandise including t-shirts, backpacks, and other items bearing the foundation logo.
• Fundraising Events Organized fundraising events including 5K races and tournaments, with sponsorship opportunities for larger events.
• Volunteer Program Opportunities for volunteers to support the foundation across various areas of operation, working directly with families, children, and adults living with Aarskog Syndrome.

Quantifiable outcome

• Operates across 34 countries supporting the Aarskog Syndrome community globally

Segments3 records

Ideal customer profiles3 records

Technology focussed No

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Integration1 record

Partnerships

Five partnerships are on record, tiered core and minor.

• #RareDisease CommunitycoreOthersCollaborates within the broader rare disease community to campaign for rights of those living with Aarskog Syndrome and other rare diseases to ensure equal rights and freedoms.
• Other Rare Patient Organisations and CharitiescoreStrategic or Co-development PartnerWorks together with other rare patient organisations and charities to amplify advocacy efforts and share best practices for supporting patients with ultra-rare genetic conditions.
• Parliamentary GroupscoreStrategic or Co-development PartnerEngages with parliamentary groups to advocate for policy changes and rights for individuals living with Aarskog Syndrome and other rare diseases at the legislative level.
• UK Medical and Clinical Genetics ServicesminorStrategic or Co-development PartnerReferral pathway for genetic testing support through UK NHS genetic testing services and genetic counselling.
• Global Testing LaboratoriesminorStrategic or Co-development PartnerPre and post genetic testing support including connections to global testing labs for patients outside the UK.

Scale indicators1 record

Recent moves6 records

Expansion highlights5 records

Direct peers

• CLIMB (Children Living with Inherited Metabolic Diseases): UK charity supporting children with inherited metabolic diseases. Comparable as a small UK-based parent-run network providing information, family support, and advocacy for ultra-rare genetic conditions in children.
• Genetic Alliance UK: UK umbrella organization supporting families and patients affected by genetic conditions. Comparable as an advocacy-driven network addressing rare genetic diseases through patient support, policy engagement, and information resources.
• Unique - Rare Chromosome Disorder Support Group: UK charity providing information and support to families affected by rare chromosome disorders. Closely mirrors the Aarskog Foundation's model of family-led networks, helpline support, and member resources for ultra-rare genetic conditions.
• SWAN UK (Syndromes Without A Name): UK-based charity supporting families affected by undiagnosed and rare genetic conditions. Directly comparable as a UK patient-support network offering helplines, community groups, and advocacy for rare genetic syndromes.

Broad incumbents

• National Organization for Rare Disorders (NORD): US-based umbrella advocacy organization for rare diseases. Operates in the same advocacy, patient support, and policy space as the Aarskog Foundation but at significantly larger scale across all rare conditions.
• Rare Diseases International: Global alliance of rare disease patient organizations. Operates as a peer-level advocacy network similar to the Aarskog Foundation's #RareDisease community engagement, but at a much broader international scale.
• EURORDIS - Rare Diseases Europe: European non-profit alliance representing over 1,000 rare disease patient organizations. Broadly comparable in advocacy mission and parliamentary engagement, but operates at much larger scale across all rare diseases rather than a single condition.

Others

• Orphanet: European reference portal for rare diseases and orphan drugs providing information on diagnosis, treatment, and specialist clinics. Comparable as an enabling infrastructure resource in the rare disease patient support ecosystem, though operates as a database rather than a patient-led charity.

Peers

• Contact (for families with disabled children):

Market position

Strengths4 records

Weaknesses4 records

Competitive moat3 records

Key risks6 records

Key highlights6 records

Customer concentration

• Xx.com/AarskogSyndrome

Revenue estimate

Valuation estimate

Number of profiles

Funding overview

Funding rounds

Investors

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M&A

Investments

M&A and investment is available on the Subscription and Enterprise plan.Contact sales →

Frequently asked questions about The Aarskog Foundation