Hajdu-Cheney Syndrome  •  Personal Story

My 45-Year Journey
with Hajdu-Cheney Syndrome

Thomas Cheesman  •  Grande Prairie, Alberta  •  February 2026

Hello, my name is Thomas Cheesman. I was born on November 4, 1980, in Alberta, Canada. I am 45 years old as I write this. Way back when I was 3 or 4 years old, doctors told my family I have Hajdu-Cheney Syndrome, or HCS. This rare condition makes my bones break down faster than they can rebuild and causes degradation of connective tissues which is quite painful and uncomfortable. It comes from changes in the NOTCH2 gene pathway. I have never tested positive for the most common mutations, but the doctors confirmed the diagnosis by watching my bones change over the years.

The first clear sign was in my fingertips. At age 3 or 4, my thumbs started to club, and the tips of the bones began to shorten. Over 44 years, I had 5 or 6 main phases of bone loss in my fingers and toes. CT scans from 2019 show the ends of my toes are going on both feet. This is called acro-osteolysis. It started one finger at a time, sometimes 2. It slowly spread from thumbs to pinkies and then when I was about 22 or so my big toe began to 'mushroom' as I call it. They get bulbous tips that are squishy and soft and sensitive as all heck sometimes. Most of my toes are deformed now but who's an adult who has perfect toes?

As a child, I had many infections. Pneumonia came every other year. I also had sinus infections, ear infections, and one very bad eye infection that almost caused blindness. My rib cage was slightly deformed, which meant HCS was quite active in the region and likely why I got the constant infections in my upper airway.

Even with these challenges, I grew up active on the farm. I did the same hard manual work as my brothers. In school I played volleyball (grades 5, 6, 8) and basketball (grade 7). I later played slow-pitch softball until 2006. My body had limits: I could not bend my wrists back, could not make a full fist, could not sit cross-legged, and could not raise my arms straight above my head. After a basketball hit my head at age 15, my neck movement dropped to about 70–75 percent. Around 1995, at age 15, I had my first case of shingles.

In my late teens I regrettably started smoking. I worked in restaurant kitchens and while doing so I earned my 4th-class power engineering ticket (and part of my 3rd-class). The industry would not insure me because of HCS. I was not going to let a diagnosis hold me back in life.

In 2004 (23 years old) doctors started me on bisphosphonate medicine (Aclasta, then Alendronate) to protect my bones. Stomach ulcers forced me to stop the pills for several years (2008–2013), and that may have allowed more bone loss in my feet and shoulders.

In 2001 I met my wife Melanie. In 2011 I ran into her again online and we got back together — eventually moving in together, buying a home, marrying, and building our family: Patience, Daniel, and Faith. These years were full of more love and purpose than I ever dreamt. How blessed am I to be here with a wife and three healthy children and a career as a Chef.

After 2015 things moved faster. My shoulders and collarbones changed shape. My feet started getting worse fast. In 2016–2017 I had a blood clot in my neck (DVT). In 2018 I had three heavy nosebleeds in one day and shingles for the second time. By 2018–2019 the pain and weakness in my hands, feet, and shoulders made kitchen work impossible.

I should have known it was too good to last… a sledding accident at the end of 2021 badly worsened my neck — displacement went from 1.7 to 3.4 mm. In 2022 I had emergency cervical spinal fusion. After the operation I caught pneumonia and my weight fell from 122 pounds to 95 pounds. I am now 5 feet 10 inches tall (I lost an inch from spine compression and an inch from collapsed feet). Swallowing is very difficult. Food gets stuck, my heart rate goes above 100 bpm, and I live on soft or pureed food and shakes. My BMI is approximately 13.6 — under-nutrition.

Recent Imaging Findings

• Pelvis X-ray Clear deformity on the left iliac crest — may be from past trauma or part of the syndrome from birth. Soft-tissue calcium over the left inferior pubic ramus. Hip joints themselves are normal.
• Chest X-ray Displaced fracture of the right 7th rib, pushed down approximately 1 cm. Narrow thoracic cavity at the top consistent with skeletal dysplasia. Extra soft-tissue calcification around both shoulders. Old T9 vertebral collapse visible. Cervical fusion hardware present. Kyphosis more pronounced.
• Cortisone injection — left index DIP joint Pain was 7/10 before the injection. Pain was 10/10 immediately after. The injection did not help.

Blood tests from October 2025 show mild anemia: hemoglobin 134 g/L and hematocrit 0.41 L/L, both low. Red blood cells are slightly small, RDW 14.3%. Other values are mostly normal. The anemia is likely connected to ongoing malnutrition from swallowing problems. Numbers dipped lowest in late 2024 — right after surgery and pneumonia — and have slowly improved with better nutrition and iron supplements.

Today I Take

I quit smoking in 2018. I still haven't gotten airway infections other than when I was in ICU following surgery.

HCS has taken height, weight, strength, easy eating, and parts of my daily independence. It has given me deformed bones, fractures that heal slowly or not at all, skin problems, infections, and constant pain. But it has never taken my family, my memories of work and sports, or my hope to help others who live with rare conditions.

I share this full story — childhood signs, active years, surgeries, latest X-rays, blood trends, and daily reality — so no one else with HCS has to feel alone. I keep reading about newer medicines like denosumab and romosozumab that may work better on the RANKL pathway. I hope my complete medical picture helps doctors, researchers, and other families understand what one man's 45-year journey with Hajdu-Cheney Syndrome can look like.