Kiira Faith Kinkle was born October 12, 2014. After only a few short moments of life, her parents noticed blood on her body and her lips. The nurses rushed her to the NICU and there she stayed for 10 days. She was diagnosed with Recessive Dystrophic Epidermolysis Bullosa (RDEB-Generalized Severe or previously know as HS), a rare genetic skin condition in which the skin is so fragile it easily tears and blisters from friction or trauma. The only treatment is for her wounds to be bandaged similar to a burn victim and to be healed on their own. As she grows, the healing process can be more painful because of the natural progression of life – learning to roll over, crawl, walk, etc. Right now, Kiira’s doctors feel that she has a mild case based on her presentation, but that can change as she gets older, wounds get bigger and deeper and more difficult to heal.
RDEB means that Kiira has two gene mutations and in her case, both cause no Collagen VII formation, which is essential for binding the lower layers of skin to the upper layers. Unfortunately, this is not a favaorable mutation, and it means that no matter how much we try to protect Kiira, her skin won’t ever produce it and she will always be at risk, externally and internally (mouth and esophagus). However, we have to keep remembering that Kiira has her own genetic make-up and some of that could override the lack of Collagen VII, making her have a more mild case. Whether she is non-severe or severe, EB will affect her drastically.
We do know that she can wear clothes and diapers, and she is eating and gaining weight. We haven’t noticed any trouble with breathing or reflux, and she seems healthy and her blistering is somewhat localized to her knees, feet, wrists and hands, but a bump or fall can create blisters or peeled skin anywhere on her body. We know some with RDEB are not this fortunate. We often find ourselves looking down the road, wanting to know what challenges we’ll face with Kiira, but everyone tells us to take it one day at a time. Stay focused on wound care, try to minimize infection, and maximize nutrition–those are our tasks for each day.
Thank you for all your prayers and support in our journey!
For more information on EB please visit http://www.debra.org/