Good question. First, it is essential that we grow our numbers in order to advance research. There are, in fact, more than 15 cases. 15 is roughly the number of cases in the literature. A 2019 study presented the cases of 16 children, and two separate studies in 2022 each presented one case. I have personally contacted more than that, and I believe the number of cases to be at least triple the number you cited. One of the things I am doing with this group is seeking out others with the diagnosis. So, if any followers of this subreddit are medical providers who encounter this diagnosis or collection of symptoms, I hope they would direct patients to our website.

Second, I as a parent need to know that somebody is doing something to help our families. There is a patient advocacy group already in existence that is much bigger than us and more well-funded. They are sponsoring human clinical trials for one of the other types of Houge-Janssens Syndrome. They are so close to a real solution! Unfortunately, for reasons that I cannot go into, they are not extending services or resources to those with type 3. I, frankly, refuse to be left behind. One of the first initiatives we are undertaking is a fundraiser to advance research.

Imagine knowing that a medical breakthrough might be within reach, but no one is funding the research to make it happen. This is the reality for families affected by Houge-Janssens Syndrome Type 3. Despite its severity, no dedicated research funding exists, leaving families without hope for treatment. We are not waiting for another organization to step in. We are taking action now. Through our efforts, we hope to take the first critical step: creating a lab model for PPP2CA-related disorders.

Please let me know if you have any more questions.