Patient stories
Taylor
speech given at CIRM in 2019
Good morning, my name is Taylor Lookofsky and I would first like to thank Rosa, who is one of the many doctors in my life. Rosa presented me with this amazing opportunity to come and speak to you today about my life and the challenges living with IPEX.
- I’d like to give you some background into my health challenges I’ve faced my entire life. Now to give some context to my years of struggle, I am 28 years old, not 10 years younger as some may have assumed.
- My first diagnosis came at the age of 1 ½ years old - type 1 diabetes.
- Soon after being diagnosed with type 1 diabetes, I had to have a feeding tube inserted in my abdomen as I was restricted from eating almost all foods due to unknown food allergies. I was not allowed to ingest ANY food until the age of 6 years old. When I was finally introduced to food, any food ingested was tasteless and felt like sandpaper on my tongue since I had to train myself to eat.
- Around age 10, I would be faced with the beginning of a never-ending battle with my dermatitis. I remember specific details where my mother had taken me to a dermatologist to try and figure out what was happening to my skin as it was red, blotchy, oozing. I remember shivering so badly that my mom had to ask the doctor’s office to turn the air down.
- At age 18 I had been formally diagnosed with IPEX. I lost my hair and my skin started a battle that was more intense than any previous episode. I remember taking showers and clumps of my hair would fall out, and I would cry in the shower not knowing what was going on.
- At age 20, I would go through the most horrific episode with my skin to date. I was bed ridden, on pain meds and could not sleep. I had gone to all of my doctors trying to figure out what had triggered this event, and no doctor could figure out what was happening, leaving me extremely frustrated, depressed and drained of all energy. I went to the burn center as a last resort and was then treated like a burn patient. To care for these wounds, I would bathe, take a sponge and physically scrape these wounds to keep them infection free and as clean as possible. When I would exit the bath, I felt like a dried-up sponge and my skin was so tight that any movement would make my skin crack open and start bleeding. To add to this, I had to use medicated wraps to help with the healing process.
- In an ongoing attempt to treat my many symptoms, I took a series of medications that came with side effects. I have had at least 15 surgeries to remove squamous cells caused by one of the medications: In 2018, my colon perforated. As a result, I now have a colostomy bag.
The IPEX symptoms have affected me not just physically, but mentally as well. I had lost all my hair and growth has been permanently stunted, and I have not reached the point in puberty as my male counterparts. I would go day by day and see all my peers and be envious that they were tall, had beards and hair, had relationships, and the confidence that I was lacking and admittedly, still lack to this day at times.
I’ve felt hopeless because there have been so few treatment options and with the treatment currently available, I have tried hundreds of medications and creams, and have had my blood drawn countless times in hopes of finding a medication that works for me, or a cure for this insufferable disease. However, nothing. As a result, I have been battling depression singe age 20. There were days that went by where I thought “I just don’t want to be here if this is what life is going to be like.”
The funding needed for Dr. Rosa’s therapy would be life changing in the way of new treatment options and potentially lead to a cure for this horrific disease.
I am determined to see that there is so much more to life than what society is telling me. I’ve decided that I would not conform to societies rules, and instead, tell society how I am going to live my unique and authentic life with IPEX.
I appreciate your time and consideration to fund this important research.
Jack
Jack received his IPEX diagnosis at age 2 ½, shocking his parents. Prior to his diagnosis, Jack had a few mild but consistent symptoms that led to referrals to pulmonologists, allergists, dermatologists and eventually an immunologist who requested a genetic test after reviewing lab work. Now 3 ½, Jack is largely healthy, struggling with mild respiratory illnesses, diarrhea and eczema. He is closely monitored by the immunology team at St. Louis Children's Hospital. Jack is on the registry to find the perfect match for a bone marrow transplant, in the event one is needed. Jack is a happy, rambunctious little boy who loves fishing, swimming, catching frogs, eating snacks and watching shows. He lives on a small farm with his parents and three siblings in Southern Illinois.
Rebecca Godard is a founding board member of the IPEX Foundation. She is a special education teacher turned stay at home mom to her four children: Lucy, Will, Jack, and Benjamin. Jack was diagnosed with IPEX Syndrome in the Fall of 2021. Along with many other IPEX parents, Rebecca found herself frustrated by the lack of information accessible for families impacted by IPEX Syndrome. The launch of this foundation embodies her goal of bringing actionable resources to other families of children diagnosed with IPEX. Rebecca and her husband, Aaron, live with their children in Southern Illinois. Their family loves to camp, hunt, garden and raise animals - their menagerie includes horses, chickens, a miniature donkey and a Great Pyrenees named Mo, a livestock guardian dog.
Nicholas
Meet Nicholas Kalojiannis, born seemingly healthy August 2, 2005, until his first bout of a “normal” cold at 6 months which never seemed to resolve, just worsen. He mystified doctors for years before learning his exact mutation to blame for all his symptoms. Nicholas, born in Florida, with no luck at getting him better and after exhausting all local children’s hospitals in our area, we as parents were at a loss and felt hopeless. We started digging into research and decided to get him out of the state. Not having much to go off we started to research top children’s hospitals in the US; our search led us to the Children’s Hospital of Philadelphia. It was there we were given an “IPEX like” diagnosis in 2006.
Physicians couldn’t make sense or find a root cause but were confident he had IPEX syndrome. Everything was pointing to that diagnosis except his laboratory FOXP3 gene was normal and proved he did not have IPEX, but left physicians stumped for concrete answers. However, he was presenting like an IPEX patient, with his immune system was ravaging his own body. Right away he was started on immunosuppression medications. After many months he was able to achieve G-tube feeds and get off TPN. Still struggling with severe malabsorption, GI infections, type 1 diabetes, hypothyroidism, and well below his growth chart, we continued to manage and keep him stable. At age 3 the immunosuppression meds started to fail, and he got a serious lung infection that required 4 IV medications for a minimum of a 9-month therapy. This was the green light to a bone marrow transplant.
Nicholas underwent a reduce intensity bone marrow transplant at the age of 3.5 under an IPEX protocol chemo regimen. Nicholas did not fully engraft, so two DLI (Donor Lymphocyte infusions) were attempted, but without positive results. We were advised to transplant him for a second time using a different more aggressive chemo regimen, but we as parents decided to do more research yet again. Our hearts led us to Cincinnati Children’s Hospital and his case was taken over there. Nicholas regained a stable status, and he went home to Florida and managed to get off all tube feeds and even eat 100% by mouth. Nicholas did well for about 7 years. During this time, we met a new immunologist who decided to test Nicholas for a gene mutation known as STAT1 GOF. Not thinking much of it because Nicholas was stable and was off all immunosuppression with an unsuccessful transplant engraftment, we didn’t give much thought to it. Test confirmed Nicholas in fact did have a STAT1 GOF and after all these years of being a mystery to the medical field we finally in 2013 found a true cause for all his symptoms. It was then we flew him to Seattle Children’s under the care of Dr. Torgersen who was able to start him on a Jak inhibitor.
Nicholas is about to enter his senior year of high school. He enjoys playing baseball and recently due to health has stopped but takes great pride in helping to coach his little brothers travel team. He needs another Bone Marrow transplant and is being closely monitored by the National Institutes of Health (NIH) and his team in Florida. We are currently working to get him back to Seattle to undergo additional testing and possibly another Bone Marrow transplant within the year.
Alicia Kalojiannis is a founding board member of the IPEX Foundation. She has a bachelor’s degree in social work, but due to life events she has remained a stay at home parent of two sons: Nicholas and Evan. When Nicholas was born, she was a desperate young mom trying to navigate a life for which she felt unprepared. It was during these times she gained faith in God. Alicia believes Nicholas’ story is meant to be shared. She believed that Nicholas’ purpose was to help other patients get to faster treatments, and earlier diagnosis. Alicia's hope is to assist and guide new patients to actionable resources, and to help patients and families to know they are not alone. Alicia believes this website can directly help new IPEX families navigate through new, uncharted waters. She has two mottos: “Never stop advocating for your loved one!” and, “Trust your gut, and don’t stop believing in a cure!” #neversurrenderN2