The story of Robyn
Friday, February 28th 2014 is RareDiseaseDay 2014. It is important that we recognize the meaning of this day for two reasons. 1.) The need to raise awareness about the number of people living with a rare disease and 2.) to observe the one-year-long journey since (my niece) Paige’s diagnosis of PNH.
Officially, Paige was diagnosed on March 1st of 2013. About a week before her diagnosis, she was hospitalized and underwent a blood transfusion because her body was producing a low level of blood cells, otherwise known as anemia. During her hospitalization, the doctors did extensive testing to reach a diagnosis. Finally they discovered that Paige was living with a rare, life-altering and life-threatening illness, PNH.
PNH, or Paroxysmal Nocturnal Hemoglobinuria is a rare blood disorder. It is autoimmune in nature, meaning that immune cells are mistakenly attacking blood cells. In the case of PNH, the Red Blood Cells are attacked, causing Anemia. The most important function of Red Blood Cells is to supply the body with oxygen. Patients with PNH can quickly run out of breath or lose consciousness due to a lack of oxygen, and that lack of oxygen can be fatal very quickly. The immune system causes hemolysis–or rupturing–of the red blood cells at an alarmingly fast rate. The remnants of these blood cells can cause clotting–or thrombosis–throughout the body. This can result in Deep Vein Thrombosis, Pulmonary Vein Thrombosis, or even a Cerebral Cardiovascular Event–a stroke. More rare thromboses that can cause pain or injury are more common in patients with PNH. The treatment involves frequent blood transfusions as well as suppressing the compliment branch of the immune system and dosing the patient with antibiotics. Because the disease is so rare, the treatment is very expensive. Patients with PNH who are being treated are susceptible to a myriad of common bacterial illnesses that may endanger their lives. The only cure for PNH is a bone marrow transplant–a procedure that involves great risk and pain, and has a high mortality rate.
Over the past 364 days, Paige has been receiving treatment of Soliris via IV forty-five minutes away from her home. The treatments are about three hours. Every other Friday, with great courage, she endures the nausea and exhaustion that go along with them. Meanwhile, her family is showing their strengths by being as supportive as possible and encouraging her every step of the way, not to mention, handling the ongoing hospital bills ($1,685,000 and counting). Because of all this, Paige and her family amaze and inspire me with their strength and perseverance in the face of adversity. Their ability to survive and even thrive through this struggle is what has made me write today. It is what makes me want to help them and everyone else who may have PNH, or any other rare disease. It inspires me to help, and I can only hope it will inspire those who read this to find some way to do the same.
For more information on Rare Disorders please visit NORD (The National Organization for Rare Disorders)
For more information on Rare Disease Day 2014 please visit
http://www.rarediseaseday.org/
Other Information on PNH:
PNH explained http://www.pnhsource.com/patients/pnh-symptoms
http://www.pnhsource.com/