Overview: JMD’s Journey

JMD is our daughter, born in 2016, facing the challenges of being the 20th person in the world diagnosed with Human FCH01 Deficiency, which is referred to as IMD76. IMD76 is an ultra-rare genetic Primary Immunodeficiency Disorder (PID) that prevents her body from producing T cells with antibody memory.

Following an 11-month diagnostic journey marked by chronic lung infections, failure to thrive, and a recent neurological crisis, her family is currently managing the condition through monthly IVIG therapy, antibiotics, and protocols to keep her mitochondria as healthy as possible.

While a bone marrow transplant was deemed too invasive without a suitable donor match, the family is actively pursuing a cutting-edge cure through a gene therapy research program at UCLA utilizing Prime Editing technology. Concurrently, we are optimizing her mitochondrial health through strict environmental protocols to help bolster her remaining immune function. In January of 2026, based on some encouraging resarch papers, we also introdced having her drink some Deuterium Depleted Water (DDW) on a daily basis.

Encouragingly, these Circadian & Mitochondrial Optimization protocols, along with monthly IVIG treatments appear effective, as JMD is currently thriving with high energy and has had no recent illnesses. However, recognizing that her condition can deteriorate rapidly, the family is committed to further research and education on Primary Immunodeficiency Disorders.

Context & Details:
The Early Years

JMD’s medical history began with unexplained health struggles from a remarkably young age. At just two years old, she developed a severe fungal infection with no clear cause or explanation. The condition proved exceptionally difficult to treat, setting a precedent for the medical mysteries that would follow. Ironically, the COVID-19 pandemic and subsequent lockdowns provided an unintended shield; by remaining at home, JMD was protected from the constant exposure to germs that her immune system could not handle. Surprisingly, she did contract COVID-19 during this time, but despite having half an immune system, she recovered from it in just a couple of days.

A Seven-Year Struggle

For seven years, JMD’s primary symptom was a persistent, chronic cough. During this time, she suffered from regular vomiting episodes at night. When she entered Grade 1 at our local public school after completing kindergarten online, we noticed she was undersized compared to her peers. This failure to thrive is a common consequence of Primary Immunodeficiency Disorders (PID), as the body fights so hard to survive that it struggles to grow, burning excess calories in the process. While she appeared otherwise healthy aside from the cough and breathing issues, the root cause remained elusive.

The Turning Point (May 2024)

The breakthrough in JMD’s case came in May 2024 during a visit to the family doctor. She presented with an ongoing cough and distinct crackling sounds in her lungs. Recognizing the severity, her doctor sent the family immediately to the Emergency Room at the Hospital for Sick Children (Sick Kids). At the ER, she was found to have double lung pneumonia and underwent a long course of antibiotics. It was there that she was eventually diagnosed with Bronchiectasis, a condition where the airways in the lungs become permanently widened, leading to a build-up of excess mucus that can cause frequent infections. This damage was caused by the severe pneumonias she had endured. This began a complex journey through the healthcare system.

Initially referred to North York General Hospital (NYGH) for complex pediatrics, the medical team there was baffled, initially suspecting Cystic Fibrosis (CF). She was sent back to Sick Kids for specialized care.

Hospitalization and Testing
(August – September 2024)

On August 28, 2024, JMD was admitted to the Sick Kids respiratory clinic. Over the next two weeks, she underwent a barrage of invasive procedures, including a bronchoscopy, lung function tests, and further antibiotic treatments. During this stay, she was diagnosed with pneumonia yet again. The pattern became undeniable: whenever antibiotics were stopped, her cough and severe symptoms would immediately return.

The Diagnosis (December 2024)

Following an advocacy push from their amazing family doctor, JMD was readmitted on December 2, 2024, and spent another three weeks at SickKids. After another round of antibiotics and extensive testing, the team confirmed she did not have Cystic Fibrosis. The answer lay in her genetics. After performing basic genetic testing, they later followed up with an advanced, comprehensive genome sequencing test to look for additional genetic causes. This second whole-genome sequencing finally revealed an ultra-rare PID known as Human FCH01 Deficiency, which is reffered to as IMD76. Though PID comprises over 400 genetic immune disorders, IMD76 is one of the rarest. JMD is only the 20th person in the world and the only one in North America with a recorded diagnosis of this disorder, though many more may exist without having a proper diagnosis.

IMD76 affects the T and B cells of the adaptive immune system. Specifically, her body cannot produce a protein called FCH01. This protein is essential for Clathrin-mediated endocytosis, a vital cellular process. Because of this defect, JMD cannot create T cells with antibody memory, leaving her body defenseless against infections. While most people can fight off an infection and retain the tools to defeat it should they reencounter it, JMD lacks this adaptive capability. She may repeatedly catch the same illness without help from her adaptive immune system. It took 11 months to reach this definitive diagnosis.

The Emergency Room Visit (January 2025)

In January 2025, JMD suffered a terrifying medical event involving stroke-like symptoms that resembled a Transient Ischemic Attack (TIA). She experienced a sudden loss of function in her left leg and arm, memory issues, and slurred speech, rendering her unable to walk. We rushed her down to the SickKids Emergency department. They had no answers to what was occurring, so they ordered an MRI. In a display of incredible bravery, JMD refused to be sedated for her MRI and lay perfectly still for 45 minutes to allow doctors to get the images they needed. Fortunately, the MRI showed no acute issues, but the episode highlighted the fragility of her condition. After further research, supported by a few studies, the family believes this crisis was triggered by liver toxicity resulting from a combination of antibiotics, ibuprofen, and Tylenol.

Current Treatment and Future Hope

Currently, JMD’s treatment path involves monthly IVIG (Intravenous Immunoglobulin) therapy to help boost her immune system. She also takes antibiotics three days a week to combat polycystic pneumonia.

While a Bone Marrow Transplant (BMT) is technically curative, JMD does not have any good donor matches. Aditionally the family has hesitated to pursue this path due to the months of recovery and how invasive the procedure is. For example, doctors use the term "conditioning" to prepare for a transplant; in reality, this means giving the patient a course of chemotherapy to wipe out any existing immune system to make room for the graft. Graft-versus-host disease is also a serious complication of a stem cell or bone marrow transplant in which donated cells launch an immune attack against normal tissues. So instead, the family is placing their hope in the future of genetic treatments.

Fortunately, one of the world's top Gene Therapy labs at UCLA, under the direction of Dr. Donald Kohn, became aware of JMD's ultra-rare condition. In August 2025, they began working to see if they could correct the disorder using Prime Editing, a cutting-edge gene editing techniques that can fix single "letters" in the DNA code.

As of November 2025, the research team has made significant progress. They have successfully created cell models carrying JMD's specific mutation in T cells and B cells. They have designed the molecular tools needed to edit DNA and are currently testing these strategies in the lab to determine whether they can restore healthy function to the cells. This groundbreaking work offers a beacon of hope.

Our Circadian & Mitochondrial Optimization Approach

In the meantime, we are doing everything that we can to keep her minimal immune system as strong as possible. This approach focuses primarily on mitochondrial health. As detailed on other parts of our website, this involves maximizing sun exposure by watching sunrises and sunsets and minimizing exposure to EMF and blue/artificial light, especially after sunset. In January 2026, we also introduced her to Deuterium Depleted Water (DDW). Some studies and research have shown positive results for immune systems with DDW, and in one specific study, after 28 days on very low‑deuterium water, rats had about 25% more T cells circulating in their blood and over three times more early “starter” cells in the thymus that can grow into new T cells, meaning their T‑cell factory was working noticeably better.
(SickKids is currently reviewing a proposal we submitted entitled: Deuterium-Depleted Water and B/T Cell Recovery in Pediatric Primary Immunodeficiency – Pilot Observational Study).

Encouragingly, these protocols seem to be working well; JMD is currently thriving with high energy and no recent sicknesses. However, we realize her status could change quickly. This is why we are dedicated to raising donations for more research and education on Primary Immunodeficiency Disorders to help find lasting cures, support other families navigating similar challenges, and assist others in getting tested, since 70-90% of cases remain undiagnosed due to limited genetic testing access and non-specific symptoms.