I know all of you have heard very little from me this summer. It has been a hard time. This chronic syndrome of which very little is known about is slowly sapping my strength. It is scarring my joints and who knows what else. Every day I live with pain. Chronic, nagging pain. What I fear is that even more pain and debility is in the future. It is hard facing my own mortality.

Why am I writing this? My trachea has developed scarring from the last intubation. It is minor for now. We will be monitoring it closely but I, now, have a life-threatening complication from Myhre. Because of this, I had to schedule an appointment to discuss my wishes for end-of-life care with my primary physician. I do have a living will. It clearly specifies a few things I do not want. However, it did not address the trachea scarring specifically. It now does.

That leads me to what is important to me. I love being with my friends and family. I adore sharing a good meal and conversation with them. I like swimming, hiking, walking the dogs, shopping, doing crafts. Reading is like breathing to me. I can’t even count the number of books I have read. I am house proud. That means vacuuming the dog hair weekly. Keeping up on the cleaning. Gardening in my back yard. Since joining choir last year, music has come back into my life. I had forgotten how vital it is to me. All of these things make my life worth living.

I urge you if you have not thought these things through with or without Myhre Syndrome, do so. Have a plan in place for the worst-case scenario. Your loved ones will thank you.

Another piece of this summer is what kind of legacy will I leave behind…. I have chosen to look at my diagnosis as a blessing. I have the ability to use my life story and history as a learning opportunity for the next generation to benefit from. I want all the little ones to know that I think of them often. I will make a difference for them.

One of the things I did was visit NIH this summer for their immunology study. I am not going to lie. The trip was exhausting for me but it was so worth it. To participate in research on that level was amazing. The skin sample they took will live on long after I am gone. If there is a breakthrough with Myhre years from now, they will be able to use my skin cells for study. Holli and I went together so the researchers were able to see living examples of the 496 and 500 variant side by side, compare our stories, and see our differences. I feel so incredibly blessed to be able to take part in this and other opportunities!

If I had any words of wisdom at all after this summer, they would be: I choose joy. I wear a bracelet every day to remind me of this. Take advantage of every opportunity you can to live out your happiness whatever it might be. I am. I will write more soon!