Rare Disease Treatments Are Not So Rare These Days

Thanks to research advances, my rare disease friends are real troopers, enjoying life

I have a friend I’ve written about before who has amyloidosis, a genetically-inherited rare disease that occurs when a protein called amyloid builds up in organs. I’m happy to report Cristina is doing relatively well, considering. And so is her daughter Sophia, survivor of two liver transplants at age 4. They are real troopers – as well as fellow Girl Scout troopers!

Knowing someone with a rare disease is not so rare these days. Neither is the availability of new treatments and clinical trials.

Five years ago, Cristina ended up in one of those clinical trials, testing a novel medication for amyloidosis, all because of the quick thinking of her daughter's liver transplant doctor. The specialist knew the signs of amyloidosis, suspected Cristina had this condition and then a colleague confirmed it. Immediately she referred her to this colleague known to be involved in a novel amyloidosis treatment that I wrote about in 2019 . Cristina was one of the first to be given RNAi or RNA interference infusions for silencing the mRNAs making "bad" misshapen proteins which were going to Cristina’s heart and other muscles.

At the beginning of the trial, Cristina was sadly wasting away and started suffering from chronic heart failure, along with GI issues and bad neuropathy. This new medication for amyloidosis has definitely helped. No, she won't be cured, but the drug maintains her body better with less "bad" proteins clogging up her system. She continues, living as best she can, raising her three amazing daughters, including Sophia, now 9, tall, happy, and energetic.

Sophia, whom I wrote about five years ago when discussing liver transplant advances, is a bundle of energy like you have never seen. This girl is a force of nature and so eager to learn, play and enjoy each day. You would never know that the common viruses our functioning immune system can easily repel would be dangerous for her. We all need to protect transplant patients, including Sophia, by our hygiene habits. And although we never know if a germ is lurking in any potential “Typhoid Mary” situation, it is always good advice to wash our hands regularly and stay home if sick. Sophia’s anti-rejection medication, while necessary to keep that "new" liver transplant happy, allows this risk of infection to flourish.

So, while there is hope, there are still significant challenges for all rare disease patients.

I recently got to go winter camping again with Cristina and Sophia and our fellow Girl Scouts—the first time since COVID shut down our outings in 2020. The girls took nature hikes and worked on science badges, including fun Strawberry DNA isolation, bouncing eggs in vinegar, making cornstarch Oobleck, and using red cabbage juice as a pH indicator. Cristina previously was my vaccination buddy , as we jumped at the opportunity to get our shots and rejoin “normal” life.

And a few weeks ago, Cristina and Sophia and I had a moment to watch the hometown Eagles football team win the NFC Conference and go to the “Big Game” (which they sadly lost). I just happened to put my zebra T-shirt on that day, a chance for visualizing the rare combination of stripes that make each zebra unique and making it a symbol for rare disease patients. In the game of life, with modern medications and treatments, it is thrilling that these zebras like Cristina and Sophia are up and running as best they can. Blessedly, they are flying with the Eagles – and we are cheering them on!!!

We thank the researchers, scientists, medical teams and all who help combat rare disease. We are grateful they are scouting out new cures and treatments. The Girl Scout motto is "Be prepared." The Handbook states: "A Girl Scout is ready to help out wherever she is needed.” We are thankful that through these medications, and advances, our rare Girl Scouts are!

In images above, Sophia with Debbie on left, and Debbie with Cristina on right.