How Can You Help?
Finding Therapies and Support Takes a Community Effort.
Our PSMC5 Foundation is all about helping each other as parents in the common goal of supporting our children.
The probability of getting struck by lightning is 1 in 1,000,000 and now through continued research and previous thanks to past donors, it has helped us identify 19 other kids with similar mutations to Ollie & Yoni. So we’re looking at a condition that currently is 1 in 500,000,000. It is certainly under-diagnosed and as genetic testing improves as well as our understand of the proteasomal disorder through this research we are hopeful we may be able to find an easier way to diagnosis and find a treatment.
We realize that you have probably found our website to either help our cause or you may be a parent with a special needs child, or one with another kind of rare gene mutation. Whatever the reason, we hope to connect with you and the community to generate support for our foundation as well as help you on your journey.
Here's a Checklist of How We Can All Help
Step 1: Identify possible genetic issues
Our kids were labeled as autistic, having ADHD, and some other lump sum terms. We knew our kids didn’t fit these standard classifications. So, we dug deeper.
- Enlist a doctor for Genetic Testing
- Cross-reference results with GeneDx
- Find current research on your gene
Step 2. Perform a neurological exam
We’re not doctors although we could possibly pass as them after all the specialists we’ve gone to. To fully understand your child’s challenges, it is recommended to perform a full workup to tackle any challenges.
- Select a local neurological doctor
- Perform full work-up
- Results may be used for schools and possible funding
Step 3. Is my child in the right school?
We’ve done the school swap thing. We tried public school and although we were ushered to the exit door for not being the right fit, we used it to our advantage. Finding the proper school and holding your city accountable is a powerful strategy you should uphold.
- Talk to friends, counselors, and advisors
- Tour special needs & specialized schools
- Objectives: confidence, peer learners, and specialized program for your child's needs
Step 4. After school programs options
At first, we felt a sense of catch up was needed to get our kids up to speed with more advanced peers. Then, we realized our child is at his own pace. Embrace your child’s hobbies and interests. After all, it will flourish their curiosity, growth, and give them a break from school.
- Small group activities should have your child in the middle of the performance level.
- Swimming, soccer, and gymnastics are a few sports to try.
- Speech, behavioral, OT, PT, and social groups should be looked into.
Step 5. Funding
Don’t think you need to pay for everything on your own. There are various ways that your city, state, and insurance may pay for your child’s requirements, conditions, and activities.
- Small group activities should have your child in the middle of the performance level.
- Swimming, soccer, and gymnastics are a few sports to try.
- Speech, behavioral, OT, PT, and social groups should be looked into.
Step 6. Volunteer
Join an organization like ours or another one as a parent. Not only will you be supporting a good cause, but you’ll be able to learn more how to advocate for your child by learning from others.
- Find solutions for the foundation along with other parents in need.
- Locate grants and opportunities for funding.
- Perform community service for those with special needs and genetic challenges.
Step 7. Donate
If you believe in a cause, stand behind it and fund it. That way, it will grow, prosper, and benefit those in need. In turn, your positive energy will go a long way.
- Your contribution will be directly affecting children with the PSMC5 genetic mutation.
- This research study will also be a precedent for similar mutations and therapies.
- This proteasome study will allow kids to fast-track available drugs that are effective.
