Being the Change: How My Advocacy Started

I remember the day the genetic counselor called me with my son's diagnosis.

She gave me information about a paper published on PubMed, and said that another family had set up a private Facebook group. "Join the group," she said.

She told me it was a variant of uncertain significance. She had nothing else to tell me.

Jumping into action

I immediately got off the phone and searched for those papers on PubMed. When I found the papers, I couldn't understand a word. I was angry and scared that I could not understand a disease affecting my son every day of his life.

After letting myself feel all the emotions, I took action by doing these 3 things:

Be positive

Nothing in the world can prepare you to have a child with an ultra-rare disease. It's the furthest thing from easy, but we're in it, and there's no way out. So, what's the point of being negative? Let's find a way to turn all of the negative feelings into positives. Changing our mindset is easier said than done, but it is possible with an open mind.

Some of the things I did along the way (even when I never knew if we would get there) were:

  • I focused on treatment approaches versus cures.
  • When my son couldn't walk or talk, I pictured him walking and talking.
  • I imagined how our story could potentially help other families 100 years from now.

This or That

Do you consider yourself an advocate for a rare disease?

Learn as you go along

It's totally okay not to know everything about the disease you are interested in. I will never hide that most days I feel like a disorganized mess, but I am doing what I need to do to continue to learn about my son's rare disease and to help contribute to the lives of others now and in the future. My mindset has always been, if not me, then who?

Some of the things you can do as you learn about your rare disease community are:

  • Read books to gain basic knowledge.
  • Watch YouTube videos to create visuals.
  • Reach out to professionals for further education.

Connecting with medical professionals

Being proactive and reaching out to professionals is a great way to continue to educate yourself on a higher level about your disease community. However, know that doctors and researchers are busy and may not respond to you. It's nothing personal against you, your child, or your organization. It is just the reality of the rare disease community. It is nearly impossible to respond to every single email.

Some of the things you can do when reaching out to a doctor are:

  • Ask if they have any presentations or webinar links that can help you gain knowledge. Ask if you can touch base in the future.
  • Ask about their requirements to communicate with someone interested in a specific disease.
  • If they are too busy to speak with you, ask to be connected to a student who is interested in or studying your disease.

If there is one thing I have learned over the last few years, it's that nothing comes easily in the rare disease community. If you want research driven into your disorder, you are going to have to work tirelessly to make that happen.

However, I believe getting there will make it all worth it. You will have the energy and passion to move forward even on your worst days. Because you will be the change and you will be part of the reason that work is being done.

Can you relate to Alex's initial feelings of anger and fear? Can you relate to her desire to jump into action? Tell us about your experiences. Share with us in the comments below!

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