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Jack’s story

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, a gene therapy to cure SPG4 has been initiated at the University of Massachusetts (UMass) Chan Medical School. We then contacted and met the research team at UMass to hear about their SPG4 cure project. Research for rare diseases such as SPG4 present a challenge for researchers as it can be hard to obtain funding to progress to the point of human clinical trials, since they impact a small population of people. 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. We let them know that we wanted to contribute and support their project through all phases of research needed for the cure to reach human clinical trials. 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 research for the SPG4 cure and to save our son from this disease.

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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. An experienced and collaborative group of researchers have come together to develop a cure for SPG4. They need help with continued funding through all phases of research, so that the cure can reach human clinical trials. We are fundraising to support this research. There will be different phases of research as the SPG4 cure progresses to human trials, and different costs associated with these phases. Once it reaches human trials, our aim is for our son to receive gene therapy and be cured from this disease.
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. 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!

SPG4 Cure Research

We are currently raising funds to support research for the SPG4 cure 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 and the Boston Children’s Hospital. 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.
If you would like to learn more about gene therapy, please see the UMass Translational Institute for Molecular Therapeutics website . Their website details previous gene therapy research that they have successfully brought to human clinical trials. They are currently adding more information to this website, including their current project on SPG4 gene therapy 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 receives the cure.

How to donate:

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!

Donations can be made by clicking the donation button below:

Donate to SPG4

Donations are processed by Blu Genes Foundation. The Blu Genes Foundation supports research for rare genetic disorders and has kindly offered to help us tell our story by providing us a forum, our own webpage, on their website. One hundred percent of your donation through the link on our webpage will go directly to funding research for the SPG4 cure and helping us to save our son from this disease. Thank you so much for your generosity in considering our need for help.

Please note that donations from both Canada and the United States, as well as internationally, can be accepted through this link. Upon donation, you will receive a Canadian Charitable tax receipt via email for any donations of $20 or more (For those in Canada: UMass is included on the list of universities outside of Canada registered as qualified donees by the Canada Revenue Agency).

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
• The Lilly and Blair Foundation
• Spastic Paraplegia Foundation, Inc.
• Hereditary Spastic Paraplegia (Boston Children’s Hospital)
• Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP; study from the Boston Children’s Hospital that Jack is enrolled in)
• Spastic Paraplegia 4
• Hereditary spastic paraplegia SPG4: what is known and not known about the disease

Contact

If you have any questions, please feel free to contact us at SPG4CureFundraiser@outlook.com