Donate to SPG4 research and treatment for Jack

Our story

We are Richard and Anna from Ottawa, Canada. We gave birth to a beautiful baby boy in 2017 named Jack. There are no words to describe the love and joy you feel when you hold your child for the first time and become parents for the first time. It was one of the happiest and most memorable days of our lives. Our little boy has grown up and is now 6 years old. He is kind, funny, happy, smart, empathetic, considerate, caring, sweet, loving, respectful and hard-working. He now has two little brothers and takes his role of big brother seriously - he cares for them, protects them, watches out for them and makes them (and us all) laugh. Jack has a heart of gold and a bright light that shines within him. It is an absolute pleasure to be his parents. We are so very proud of him.

Around the age of 2, we noticed that Jack’s toes pointed inward when walking (also known as in-toeing) and that the muscles in his legs were stiff. We took him to our family doctor, who mentioned that this can be normal in the early years of a child, and that they usually grow out of it. By the age of 3, with no signs of improvement, we took him back to our family doctor who referred him to pediatric physiotherapy. After a year of physiotherapy, his physiotherapist was concerned that there was no improvement in his feet, legs or gait (how he walked). She noted there may be underlying neurological symptoms and suggested that he should be assessed by a neurologist. Our family doctor then referred us to the Children’s Hospital of Eastern Ontario to doctors in both neurology and orthopedics. After being assessed, the doctor in orthopedics recommended orthotics, and the doctor in neurology started running tests to try and identify the underlying cause of his symptoms.

On December 13, 2023, with results obtained through genetic testing, our son was diagnosed with Hereditary Spastic Paraplegia Type 4 (SPG4). After years of trying to find out why physiotherapy was not improving his symptoms, we finally had a diagnosis. However, it did not come with relief. SPG4 is a rare disease and neurological disorder that is progressive. There is no cure, nor is there any treatment to stop the progression. It meant that his legs were slowly becoming paralyzed, and that there was nothing we could do to help him. This diagnosis took us to the brink of what we can only describe as a deep despair, sadness, and helplessness. On that day, we fell to our knees.

Since that day, we have been on a new journey. The first few weeks were the hardest as we tried to process the diagnosis while trying to keep up our normal daily routines for our three young boys (who were 6, 4 and 2 years of age). The next few weeks, we began to research SPG4 to better understand the diagnosis. We cast a wide net and wrote every expert we could find online that was associated with studying this disease. It was a researcher at the Boston Children’s Hospital who wrote us back and said “yes, I can help you” that gave us the lift we needed to be able to stand up again. He enrolled Jack in his study that follows patients with this rare disease. He told us that while there is currently no treatment or cure, there is currently research being done to treat and to cure SPG4. As parents who feel helpless with a child who has a progressive disease with no cure, we decided that what we could do was support those that could help our son. This research is what is giving us hope.

While we would rather keep this news within our families and close to our hearts, we are sharing our story because we need your help. This is much larger than us, and we cannot do this alone. We are now fundraising to support SPG4 research, treatment and/or trials to save our son from this disease. While this diagnosis is rare, it is not unique. SPG4 affects around 1 in every 50,000 people. The development of a cure for SPG4 could help everyone affected by this progressive disease!

What is Hereditary Spastic Paraplegia type 4 (SPG4)?

SPG4 is a rare genetic disease and neurological disorder. It is caused by a mutation in the SPAST gene, which is a gene that helps motor neurons function correctly in the brain and spinal cord. The main symptom of this disease is muscle weakness and spasticity (stiffness) in the legs. These symptoms arise due to the degeneration of the upper motor neurons in the brain and spinal cord. Upper motor neurons relay messages to the lower motor neurons in the brain stem and spinal cord, and the lower motor neurons carry these messages to the muscles. As the upper motor neurons degenerate, the correct messages are not carried to the lower motor neurons, and thus, the correct messages are not transmitted to the muscles. SPG4 is a progressive disease. Once symptoms begin, degeneration continues, and muscle weakness and spasticity worsen over time. People with SPG4 may then eventually lose the ability to walk on their own and this can be coupled with additional symptoms such as incontinence.

Why are we fundraising?

There is no cure for SPG4, nor are there any treatments to stop the progression of the disease. We are fundraising to support SPG4 research, treatment and/or trials for our son, as well as any supports he may need on his journey with SPG4. We are fundraising with a sense of urgency due to the progressive nature of this disease. Once our son’s neurons degrade, they cannot be restored or grow back. We are hoping that the cure for SPG4 can be developed before our child’s disease progresses to paralysis.

SPG4 cure research

We are currently raising funds for the SPG4 cure research led by an experienced, world-class research team at UMass who are also partnering on this project with other experienced and world-class researchers at Drexel University, the Boston Children’s Hospital and other institutions who may join as the research progresses. The cure they are developing is a gene therapy which aims to replace the disease-causing mutation in the SPAST gene with a healthy copy of the SPAST gene by way of an AAV mediated silence and replace strategy. Their goal is to have an AAV vector that can be used in any SPG4 patient, regardless of their specific mutation or variant. Jack’s incredible doctors at the Children’s Hospital of Eastern Ontario are very interested in this research.

Fundraising timeline

We are starting to fundraise immediately. We will continue to fundraise through all the stages of research required for the SPG4 cure to reach human clinical trials, and until our son is cured from this disease.

Donations

We thank you from the bottom of our hearts for your generous consideration of making a donation. We are so grateful for any and all donations made! Thank you for supporting our family and giving us hope!!!

Resources

If you would like to learn more about SPG4, please see these resources:

Cure SPG4 Foundation https://www.curespg4.org/

The Lilly and Blair Foundation https://www.lillyandblair.org/research

Spastic Paraplegia Foundation, Inc. https://sp-foundation.org/

Hereditary Spastic Paraplegia (Boston Children’s Hospital) https://www.childrenshospital.org/conditions/hereditary-spastic-paraplegia

Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP; study from the Boston Children’s Hospital that Jack is enrolled in) https://clinicaltrials.gov/study/NCT04712812

Spastic Paraplegia 4 https://www.ncbi.nlm.nih.gov/books/NBK1160/

Hereditary spastic paraplegia SPG4: what is known and not known about the disease https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643622/