Meet Sara and Gaby, who've just arrived home with newborn baby Hania. Learn more about Plasminogen Deficiency Awareness Week at plgdweek.com
Meet Sara and Gaby, who’ve just arrived home with baby Hania. Born with no complications, Hania appeared completely normal. At 3-month-old however, she got her first cold, and her first minor eye infection. Hania’s pediatrician prescribed eye drops and, in a few days, her eye seemed
somewhat better. But, every time Hania had a cold or a fever, the eye infection came back…
Which meant more pediatrician visits, and more eye drops. Even worse, Sara and Gaby noticed that, each time, it took longer for the infection to heal. At 1-year-old, Hania developed her first eye lesion, which appeared in a thick yellow, white and red color inside of her eyelid. Since the usual eyedrops didn’t work anymore, they were referred to a pediatric ophthalmologist, who prescribed heparin and corticosteroids.
But, much to their distress, the treatments didn’t help. So, when she was 2, Hania was referred to another pediatric ophthalmologist, who tried yet another course of treatments that sadly were also unsuccessful. They were then referred to an Ophthalmologist who specializes in Corneal Diseases.
This physician recommended surgery to remove Hania’s fibrin lesion. The good news? The surgery was successful.
The bad news? 3 months later, Hania’s lesion returned, and it appeared larger, thicker and generally worse than before. At age 4, after several more surgeries which ultimately provided only temporary relief, Hania experienced light sensitivity and often preferred to wear sunglasses during daylight hours.
Hania’s condition was not improving, and a short time later, Sara and Gaby noticed Hania’s gums were also swelling, due to sores which caused a great deal of irritation and discomfort for Hania. So, they went back to her original pediatrician, who recommended both referral to a dentist, and very importantly thorough examination by a pediatric hematologist. Hania had passed her 5th birthday by this time.
The pediatric hematologist promptly ordered a blood test and a gene mutation test for Hania. She was finally diagnosed with Plasminogen Deficiency, a rare autosomal recessive disorder whereby a person inherits two mutated Plasminogen genes, one from each parent. Oftentimes, the parents do not show any symptoms as they have at least one fully functioning Plasminogen gene which codes for the plasminogen enzyme.
Plasminogen Deficiency occurs when plasminogen, a protein made in the liver, is reduced or absent.
Plasminogen Deficiency may affect many organs, including the eyes, ears, gums, respiratory tract, GI tract, kidneys, female genital tract, the skin and the brain. Left undiagnosed and untreated, plasminogen Deficiency can be life threatening due to risk of rapid accumulation of fibrin protein in areas such as the trachea or cerebral vascular spaces.
Historical treatments to manage Plasminogen Deficiency have been mostly unsuccessful with only temporary or partial symptom relief for patients. At Prometic Life Sciences, we’re developing a new plasminogen replacement therapy for congenital Plasminogen Deficiency. This is a purified, concentrated source of plasminogen protein, to help restore the missing protein which patients are unable to produce naturally.
This plasminogen therapy is currently being reviewed by the FDA. If approved, it may be available in the United States in 2018. As better, more effective treatment options become available, Plasminogen Deficiency management will further improve.
And courageous people like Hania will have the chance to live, active and normal lives, with their Plasminogen Deficiency optimally managed. For more information on Plasminogen Deficiency, please visit the website. www.pts.plasminogen.com