Our History

2020 — LSA launches the First International Research Symposium. Co-hosted with the University of Montreal and IRICoR, with 14 researchers from five countries convening virtually due to COVID-19. Six drug compounds are identified as promising; three are already FDA-approved and candidates for repurposing. 

2023 — Federal Advocacy, Digital Community, and Monthly Family Support. LSA partners with The Normandy Group for its first formal congressional advocacy effort, while simultaneously launching monthly caregiver Zoom support sessions. On The Beam transitions to a digital-first format after 40+ years in print.

2024 — Largest Single Research Grant Awarded
LSA awards $158,686 over two years to Dr. Jenny Gallop and Dr. Jonathan Gadsby at the University of Cambridge to study how alpelisib acts on kidney and brain cells affected by Lowe syndrome — the largest single grant in LSA history. The grant is paid in full.

2011 — Social Security Administration Recognizes Lowe Syndrome. Lowe syndrome is recognized as a qualifying condition under the SSA Compassionate Allowances program qualifying diagnosed individuals for SSI/SSDI benefits that directly impacts families navigating an already financially demanding road.

2012  — Dr. Lowe Passes Away Dr. Lowe, who lived to see the organization built in response to his discovery flourish, personally writing to LSA and donating $1,000 in 2010, before his death in Cambridge, Massachusetts in February 2012 at age 90.

2013 — 30th Anniversary, New Mission, and Record Research Investment. The 13th International Conference in Orlando marks three decades of LSA. The board adopts a formal mission statement — “Improve the lives of persons with Lowe syndrome and their families through fostering communication, providing education, and supporting research so that individuals can attain their highest potential” — and sets a five-year strategic plan. 

2013 — Record Research Investment. LSA awards $150,000 in research grants in a single year, the largest research investment in its history to that point.

2016 — Research Grant Rewarded LSA awarded $120,549 to Dr. Herbert Lachman at Albert Einstein College of Medicine to develop induced pluripotent stem cells from boys with Lowe syndrome and model the neurodevelopmental features of the disease. Funded by the Jerman family’s gala fundraising.

• 2000 — Launches Leland McSpadden Research Fund The LSA Board launches the Leland McSpadden Research Fund in honor of the passing of the son of Kaye McSpadden, LSA founder. 
• 2000 — Lowe Syndrome Trust (UK) Founded. Lorraine Thomas of UK establishes the Lowe Syndrome Trust as a UK charitable entity, raising approximately £30,000 in its first year. Launching an enduring international partnership.
• 2001 — Income Exceeds $100,000 LSA’s annual income surpasses $100,000, a watershed moment that reflects the growing power of the community’s fundraising and signals LSA’s emergence as an organization capable of meaningfully moving science forward.
• 2004 — Historic Changing of the Guard. After more than 20 years based out of Kaye McSpadden’s home in Indiana, LSA headquarters moved to Dallas under the leadership of Debbie Jacobs. The Parent Directory is renamed the Family Directory listing 228 families from 25 countries.
• 2004 — Conference Scholarship Fund Established. LSA creates its first Conference Scholarship Fund assisting 8 families at the 2006 San Diego conference. This is a commitment that no family should be priced out of community and connection.
• 2007 — Kaye McSpadden Honored as Honorary Board Member. After 24 years of leading the organization she founded, Kaye McSpadden completes her final board term and is awarded Honorary Board Member status.

• 1992 — The Gene Is Found. On July 16, 1992, Drs. Robert Nussbaum and Richard Lewis announce in Nature that they have isolated and identified the OCRL1 gene that causes Lowe syndrome. Simultaneous press conferences are held in Philadelphia and Houston. The families who contributed blood samples through LSA made this discovery possible. 
• 1995 — The Molecular Mechanism Is Identified. Dr. Nussbaum announces that Lowe syndrome is caused by a deficiency of a specific enzyme — phosphatidylinositol 4,5-biphosphate 5-phosphatase — identifying for the first time the precise molecular mechanism underlying the disease and opening the door to targeted therapeutic research.
• 1996 — World’s First Diagnostic Test. Baylor College’s laboratory offers the world’s first biochemical diagnostic test for Lowe syndrome — a direct result of LSA-supported research, translating scientific discovery into a practical tool for families.
• 1997 — LSA Goes Online. LSA launches its first website (lowesyndrome.org), built by Tom Nawara and maintained by Jeff Smith. Within months, NORD — the National Organization for Rare Disorders — named it “Web Site of the Week.” The first member finds and joins LSA entirely through the web.
• 1999 — First Biochemical Prenatal Test Becomes Available. Building on the 1996 diagnostic test, a biochemical prenatal test for Lowe syndrome becomes available — another direct result of LSA-supported research.

• 1981 — The Letter That Started It All. Kaye McSpadden writes to Exceptional Parent magazine seeking other families with children with Lowe syndrome. Six families respond. From that single letter, a community begins.
• 1982 — First Newsletter Published. The first Lowe’s Syndrome Family Newsletter is published, circulating to families, doctors, and professionals across 18 states. Its purpose: reduce isolation, share practical guidance, and build connection across distance. 
• 1983 — Formal Organization. LSA formally organizes as a charitable association in January, with four stated purposes: foster communication, promote understanding, provide information, and encourage research. LSA receives IRS tax-exempt status. First-year contributions by families total $672.30. 
• 1985 — Families Join the Science. Dr. Richard Lewis at Baylor College of Medicine begins the Lowe syndrome gene mapping effort. LSA families contribute blood samples.
• 1986 — Incorporation, First Board. LSA incorporates and establishes a Board of Directors, adding to its bylaws a formal commitment to encourage, assist, and support medical research. 
• 1986 — First International Conference. 1st International Conference convened in Indianapolis, drawing approximately 75 attendees from 14 states, Japan, and England. Dr. Lewis announces at the conference that the gene has been regionally mapped to the X chromosome. 
• 1986 — Scientific Advisory Committee Founded. LSA established its Scientific Advisory Committee — a formal structure of distinguished physicians and scientists to help lead research and education efforts.
• 1987 — First Edition of Living with Lowe Syndrome Published. The first comprehensive guide written on LS at the time, Living with Lowe Syndrome: A Guide for Families, Friends, and Professionals is published in August 1987. Supported by a $1,000 grant from the Willen Drug Company of Baltimore. Several thousand copies are printed and distributed to LSA members, hospitals, physicians, and more. 
• 1988 — First LSA Research Grant. On June 19, 1988, the LSA board approved its first-ever medical research grant — $5,000 to Dr. Richard Lewis at Baylor College of Medicine for gene mapping, carrier detection, and prenatal diagnosis. 
• 1989 — First Comprehensive Survey. LSA distributes its first comprehensive, community-wide, survey questionnaires to families, beginning a decades-long commitment to systematic patient data collection to create a registry for future natural history studies.