Stories of Hope
To better understand the impact of bone marrow failure, we present stories told by the patients, parents, family members, and spouses who are living with these illnesses. Our entire community benefits from the insightful stories patients and family members share with us about their personal journeys.
Update for Josh: A Change in Treatment is only a Little Unsettling
2021 Treatment update I am still taking the medication ultomiris, however, in late 2020 I was notified by Alexion (the drug company that makes ultomiris) that the concentration of ultomiris would be changing in 2021. By sometime in 2021 the original concentration of ultomiris will be phased out and will no longer available. The new concentration I would begin getting is 100mg/ml formulation. This new concentration is infused at a different rate and actually cuts down my infusion time to about 40 minutes. It is important to note that the dose of ultomiris has not changed, just the…
Pack your Bags and Head to the Hospital - Hailey's Story
“You will need to pack your bags and head to Children’s Hospital, we think it’s leukemia.” Only a few days after a Complete Blood Count, Christy, Hailey's mom, heard these words from Hailey’s doctor. Hailey had just started kindergarten. At summer dance camp, Hailey won the award for “Most Tired.” That puzzled her mom. As kindergarten progressed, Christy noticed the fatigue. She assumed that kindergarten must be exhausting for children. Christmas was approaching when she noticed Hailey’s bruises, in odd places on her body. Then, in the middle of the night, Hailey started screaming. The
Life Interrupted – Nick’s Fight Against Aplastic Anemia
Here is Nick's story, as told by his mom, Pamela Karavite At 13, Nick was an active teenaged boy. He played on a summer basketball team, and two baseball teams. I had seen bruises on his arms and legs, but they were typical for a teen boy that plays hard. Nick had just pitched his first no-hitter, and lethargically played in a couple of basketball games two days later. It was odd that he seemed so tired, but it was summer, the gym had no air-conditioning, and all the boys seemed tired. We were headed out of town for the weekend, and I thought a little rest would be good for all of us.…
We Made It! – Kristy Shares her Perspective in January 2021
We made it to another treatment day without anyone in our family getting sick! The week leading to treatment day has become pretty worrisome for me. What if someone in our family gets sick with or is exposed to COVID? Josh will not be able to get his infusion within the treatment window and then what? The questions I never thought I'd have to wonder about. I used to dread treatment day because it was a reminder that Josh has Paroxysmal Nocturnal Hemoglobinuria (PNH), but today I celebrate that he is well enough to receive his infusion. A welcomed change in perspective. Almost a year into…
A Caregiver's Story: MDS Diagnosis Changes their Lives
I know my fiancé well. Even though he seemed to be healthy and his job kept him active, I knew it had been a long time since he had a medical physical, so I pushed him into an appointment. Without symptoms, the doctor suggested routine blood work as a part of the physical. We were surprised that all his counts were low. The doctor decided to check again in a month, so I made sure that his diet was healthier and that he took vitamins, hoping that would correct any problem. Because I’m a phlebotomist, I performed his first and second blood draws. When the results didn’t show marked…
Severe Aplastic Anemia and PNH Diagnoses Came out of Nowhere - Marianna's Story
As a typical community college student, Mariana was busy. Classes, studying, day trips, all were part of her life. Yet during one shower, she dropped to the floor, suddenly dizzy. A few weeks later she would be out of breath, with unusual bruises on her skin. At the end of the semester, she fainted in the grocery store while on vacation. Her parents dropped everything to drive the miles in a hurry, returning to an appointment with her family physician. Not yet diagnosed, she went to the first class of the new semester as usual, going to lunch and shopping with friends. The nap afterward was…
Update on Miss Alayna!
Alayna was a toddler when she was diagnosed with severe aplastic anemia. The previous story described the journey of diagnosis and treatment with a bone marrow transplant. Today, Alayna is attending preschool, three days a week. She has had no major “hiccups,” her mom said, after the transplant in September 2019. She’s even doing so well, a year later, that she doesn’t need any more post-transplant biopsies! When does a mom quit worrying? Alayna’s mom, Ashley, continues to worry, especially during this time of the pandemic. All the prognosis from the medical team is very positive in every…
PNH - Traveling with a Rare Disease - Update from Josh
Traveling with a rare disease Traveling as a rare disease patient starts long before the booking of tickets. It starts in the physician’s office where travel is planned around treatment regimen. My wife and I recommend that rare disease patients work closely with their physicians before planning travel to ensure that the patient is healthy enough to travel. Reviewing travel with a physician is important because changing altitudes, sitting for prolonged periods of time, changing time zones and sleep habits, all can stress the body. Paroxysmal nocturnal hemoglobinuria (PNH) poses multiple…
Stacy's Aplastic Anemia Journey Part 3: Disappointing Results from First Treatment
Since treatment in July 2019, I have still been transfusion-dependent, receiving both blood and platelets. I get so short of breath when my blood is low. I really hate this disease. Because I’m still transfusion-dependent, I go back and forth for labs, doctor’s appointments, and transfusions. In September, I started having different problems. I was not feeling well. I kept feeling my heart beating so hard I could not get up to walk a few steps to my kitchen or to my bathroom. I would get short of breath. I could hear my heart pounding in my ears! I felt so weak I figured there must be
Undiagnosed for Years, Josh Finally Finds both a Diagnosis and a Treatment!
My diagnosis with Paroxysmal Nocturnal Hemoglobinuria (PNH) was a lot to handle, as is any diagnosis of any kind. I could talk forever in circles about the experience of my diagnosis and how it changed everything for me. For the beginning of my story, I will specifically focus on my medical diagnosis of PNH. Here are the symptoms I was showing before my diagnosis: I was exhausted, all the time. I could not do any athletic activity without being incredibly shaky for hours after, sometimes having to lay around the entire next day. I can remember lying on my couch after surfing and thinking if…