My oldest son (4y) has also a rare genetic disorder (18q12.3q21.1 deletion). Part of the chromosome that is missing is the SETBP1 gene [1] and this deletion can result in developmental delay, reduced speech and motor skills, intellectual disability and other issues such as autism. My son’s speech for example is limited to simple consonant-vowel syllables. Dr. Angela Morgan, who is mentioned on the IDefine website, is also conducting research on the SETBP1 gene [2]. You can take a look at the website of the SETBP1 Society [3] to get some additional inspiration for your foundation. They are also raising funds to promote basic research and awareness.

Community building will be an important part of your foundation and parents. In our case, we joined the SETBP1 support group on Facebook. It is always heartwarming and comforting to read other peoples and to know that you are not the only one that is in a similar situation. The Facebook group keeps us also updated on recent scientific progress and we were able to join a research study on SETBP1.

I know that having a kid that is unable to communicate is hard. Very hard. When our son was younger he was sometimes very frustated because he could not express himself. But communication is more than speech. Our son is now mainly expressing himself with key word signing (in our case the Dutch variant SMOG) and his speech is gradually improving (at a very slow pace). I hope your daughter will also find a way to properly express herself.

[1] https://rarediseases.info.nih.gov/diseases/13379/setbp1-diso...

[2] Morgan A, Braden R, Wong MMK, Colin E, Amor D, Liégeois F, Srivastava S, Vogel A, Bizaoui V, Ranguin K, Fisher SE, van Bon BW. Speech and language deficits are central to SETBP1 haploinsufficiency disorder. Eur J Hum Genet. 2021 Aug;29(8):1216-1225.

[3] https://www.setbp1.org/