Natalie Stack 5th Patient Stem Cell and Gene Therapy Trial – March 29, 2022

Wow, what a year 2022 has been so far! I have a wonderful boyfriend in my life (we are getting a puppy soon), the beloved show, This is Us is ending and I was the 5th patient to receive a stem cell transplant! For those of you who don’t know the show, This is Us, the show’s message is that everyone is connected in some profound way; a stranger to you may be the person who changes your life forever or may be someone who becomes the most important person in your life. I feel connected to so many of you – you have changed my life for the better.

People who come into your life, come into it for a reason; and, that is how I feel about my life. My parents were meant to adopt me, and they have become the most important people in my life. The cystinosis community was meant to be connected, to support each other and love one another through the good, the bad and the ugly. Dr. Stephanie Cherqui who was once a stranger in all of our lives is now the one person who has changed our lives forever. This is our story.

Since the start of 2022, it has been a year of all things medical for me. I began the year with three weeks of daily tests to qualify for the stem cell clinical trial. The daily testing and long drives down to UC San Diego consumed most of my life for the first month of this year but now, five months later, I am recovering from what is certainly the most significant milestone in my entire life.

The testing for the clinical trial included a multitude of tests such as strenuous eye exams, a skin biopsy, mole mapping, an awkward rectal biopsy, grip strength tests, neurological functioning tests and of course multiple blood draws. It was a lot to manage and a lot of stress on my body, but I knew it was what was needed to qualify for the clinical trial. At the end of the three weeks, I had one final procedure – apheresis. My stem cells were collected over the course of two days and taken to UCLA for repair. This was the final stretch before the team would call me to say I was approved (or not) for the clinical trial.

During this time, while I was anxiously waiting, I tried to make the most of the time left before I was admitted to the hospital for an extended period of time. As soon as I heard that I was able to participate in the clinical trial, a flood of emotions came over me. I was happy, relieved, stressed, nervous and fearful all at the same time. There was a period of time when I started to worry about what could happen but realized that I was overthinking things and that the process was completely out of my hands. I had to embrace each day and take things one day at a time. This was my time to shine. I had to let go of all the pain and struggles I have had over the years caused by this horrible, rare disease. It was time to let go and leave it up to a higher power.

March 22, 2022 was the day I entered Jacob’s Medical Center, 6th floor, Room 634. I had no idea what to expect. The floor was exclusively for Blood and Bone Marrow transplant patients and the floor had purified air and a designated nutrition service just for 6th-floor patients. There was a gym and a beautiful view from the huge windows in each room, a private bathroom and a nice size television. It didn’t seem too bad.

The first night I was there I was informed that I had a blood clot in my chest due to the insertion of the PICC line in my arm. I thought to myself, “How could this happen now? What if something bad happens to me? What if I can’t do the trial anymore? It has been too long of a journey; this can’t be happening”. The blood clot issue paused the trial briefly. Needless to say, I was incredibly worried but once I talked to the doctors and they gave the okay to start the chemotherapy one day late, I realized I was overreacting. There were four days of chemotherapy, two sessions a day, for two hours from 4:00 a.m. – 6:00 a.m. and 4:00 p.m. – 6:00 p.m. The actual chemotherapy was easy, but the aftermath was torture.

Approximately twelve days after the chemotherapy, the side effects hit me. I was nauseous, weak and had headaches, dry skin, a dry mouth, and severe mucositis. I shaved my head. I had horrible, painful sores in my throat, so I could not eat anything for five days. I could barely drink water and could not swallow my medications. I was on a powerful pain medication every four hours, but the pain did not go away. Not being able to drink enough water and having an excessively dry mouth was torture for me considering my chronic kidney disease and the need for copious amounts of water. I was craving water like never before.

As my blood counts improved and went up, I started to feel better and the mucositis gradually went away. After 25 long days in the hospital, the doctors allowed me to go home! I was thrilled to be home to make my own food and sleep in my own bed! I am currently recovering well at home and taking one day at a time.

I am so glad that I decided to do this clinical trial for cystinosis. Even though it was scary to do, the possibility that the treatment could save my life makes it all worthwhile. My hope is that I will no longer need to take Procsybi and that this will be the cure for cystinosis. I hope that one day soon, all of us with cystinosis can receive this treatment and be free of cystinosis. I know we still have a long way to go, but this is the very beginning of what could be something truly miraculous.

I want to thank the cystinosis community and families for being so determined to raise money to find better treatments for this disease. We are at a monumental time for cystinosis and that is because of your true commitment to our community. The generosity, love and passion this community has and their relentless drive to find a cure for cystinosis has shown through every step of the way – I am forever grateful.

Lastly, I want to thank my parents, Dr. Cherqui and her team for making this happen. Dr. Cherqui, thank you for being our shining star. You gave this entire community hope for a cure when we didn’t think it was possible.

My parents, especially my mother, have given me a second chance at life. Their fierce commitment and advocacy for me and others with cystinosis are remarkable. I am beyond grateful to my parents for taking their little girl’s wish seriously. I will never have the right words to say how much I love them.

Above all, thank each and every one of you for never giving up on my wish – to have my disease go away forever.

Love, Natalie