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Rare Disease Day- A patient organization leader perspective

The PTEN Hamartoma Tumor Syndrome Foundation advocates for all patients affected by PTEN Hamartoma Tumor Syndrome (PHTS). PHTS is a Rare Disease defined as less than 1 in 200,000 though our experience tells us that our genetic disorder is underdiagnosed. The PTEN Foundation is collecting data in an IRB governed patient-powered registry and advocates for more than 1500 patients Worldwide. PHTS results when a patient is born with a mutation in the PTEN gene. Patients are at high risk of developing breast, thyroid, kidney, colon, endometrial cancers, and melanoma. These are common cancers, but a rare genetic syndrome that can lead to these cancers. Some patients are also affected by developmental delay or autism and other neurocognition issues. What drives our passion? Our Why? "Love for our patients, a desire to bring our patient's experience to the forefront for research acceleration to treatments for our disease," Kristin Anthony, President of the PTEN Foundation

Kristin never thought she'd enter the World of Rare Diseases and shared what having a rare disease means to her. Being diagnosed with PHTS means "hereditary cancer risks, autism, epilepsy, vascular anomalies, tumors, polyposis, advocacy. Trips to Washington, Boston, Cleveland, England, numerous calls with scared patients, silent tears, small victories, late nights, exhaustion, huge smiles from Moms who are now some of my closest friends, hugs with kids whose smiles light up my World."

Kristin was diagnosed with thyroid cancer in 2009, She shared that her Mom had already experienced her first primary breast cancer, and she was experiencing numerous breast health issues. "I felt a tug; something was amiss. I asked my care team if there was any correlation with my breast health issues and thyroid cancer and was told: NO, don't play Dr. Google, we will remove your thyroid, and you will be fine. I did not rest on that statement. Some will say I am stubborn and strong-willed; they are correct, I am. I want to credit those characteristics to my persistence in trying to understand my health issues. Still, I believe it was something more significant that kept me on a path to diagnosis."

Kristin researched and found a disease that did tie together breast cancer and thyroid cancer, Cowden Syndrome, a presentation of PHTS. "I reviewed the major and minor criteria for the disorder, and I fit many of these. Again, I approached my care team to ask if it might be possible that I have this syndrome and was told, No. Many months later, I met a genetic counselor who shared that she thought I was onto something. She and my oncologist invited me in, drew blood, took head measurements, and sent these off to the Cleveland Clinic." Several months later, in 2011, Kristin received confirmation that she was right. She was positive for a PTEN gene mutation.

Fast forward to today, Kristin is a three-time cancer survivor, a three-time previvor, and she has overcome 15 surgical procedures. "The result didn't break me; it strengthened my resolve to work harder for our PHTS (PTEN) families." The PTEN Foundation team believes treatments are in reach. "We have amazing researchers across the US that are tirelessly working at breakneck speed to see this happen," Andrea Beilstein, PTEN Foundation Program Director. "We are working to develop tools open to all PHTS (PTEN) researchers, which include our patient's most valuable asset and legacy for their kids, data. No one understands our patient's journeys better than them; they are the ones that can best articulate what living with PHTS means." Patient's fears and hurts include cancer risk, their autistic child's future, the pain they suffer from vascular anomalies, digestive issues resulting from colonic polyposis. PTEN patients experience depression, anxiety, insomnia, epilepsy, seizures, heart issues, dementia, symptoms similar to Parkinson's, and more. The PTEN Foundation believes its community's stories matter and developed an IRB governed patient-powered registry longitudinal database is to assist in communicating the patient journey in a way that complements current clinical data. Kristin Anthony shared that the foundation "will soon launch a collaborative biobank pilot with biomaterials collected from patients representing all phenotypical aspects of PHTS." Both resources are open to all researchers who apply. The foundation is also developing a PHTS quality of life disease burden study, giving patients a collective voice.

Ms. Anthony shared, "Rare Disease Day, now Rare Disease Week, is a growing movement across the World, giving the rare global community a platform for patients to share their experiences collectively. Our community is grateful for this opportunity. My wish for all rare disease families this rare disease day, reflect with gratitude, and move forward with hope."

If you would like to connect with the PTEN Foundation feel free to reach out to us directly,, visit our website,, and join us for our patient and scientific symposium May 29, 2020, at Boston Children's Hospital. Sign up here:

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