Braelyn's Xome Testing Fund for EB
Donation protected
Hi Everyone!
My name is Braelyn Avery Thiess and I was born January 20, 2016 and spent four days in the NICU while Doctors frantically tried to figure out what was wrong with me. The best time of my parent’s life quickly took a turn in the opposite direction when the Doctors diagnosed it as a skin disorder called Epidermolysis Bullosa (EB). This is also referred to as “The Worst Disease You Have Never Heard Of.” It is a skin condition in which the layers of skin and what holds them together is mutated or absent. I constantly have blisters and they can form anywhere on my body. They can be big or small, single blisters or a cluster of blisters. They can be very painful. I am a Butterfly Child; my skin is as fragile as a butterfly’s wings.
There is NO CURE, however, there is wound care to try and make me as comfortable as possible. Bandages, needles, creams, gels, special pads and wraps, and bleach baths are all part of my daily routine. Wound care alone can cost thousands of dollars each month!!!
We recently received the biopsy results and I have a form of Junctional EB. The good news is that I have antigens present that are fighting off infection. The bad news is that doctors cannot diagnose which subtype of EB I have based on the biopsy. Junctional EB can be mild, but it can also turn severe very quickly. It can even be lethal. The mutation can occur in multiple different genes, thus the different subtypes in JEB.
My doctor has now suggested a test called an Xome Slice. This is a blood test in which they can look at the genes and determine which specific ones are affected and hopefully tell us which subtype I have. The information obtained from this could help my parents prepare for any future tests, and/or possible surgeries because JEB affects more than just my skin. My nails fall off and may not grow back. My teeth may not have enamel or grow like they are supposed to so that can require mouth surgeries. I may not grow hair back in areas on my head where I keep having repeat sites of blisters. I can also get them on my eyes, in my esophagus, mouth, intestines and lungs. This can result in many expensive procedures such as surgeries, blood transfusions, feeding tubes and much more.
This Xome Slice test is not covered by insurance and cost around $3000. I know my family cannot come up with all this money at once. I am not expecting to raise all of it through donations, but every little bit of money donated will get me that much closer to an answer for my pain!!!
Thank you everyone for taking the time to read my story. If you can donate to my testing I thank you very much! If not, please spread awareness about this very rare skin condition! For more information on Epidermolysis Bullosa and other ways you can help, please visit www.Debra.org.
Thank you!
Braelyn
My name is Braelyn Avery Thiess and I was born January 20, 2016 and spent four days in the NICU while Doctors frantically tried to figure out what was wrong with me. The best time of my parent’s life quickly took a turn in the opposite direction when the Doctors diagnosed it as a skin disorder called Epidermolysis Bullosa (EB). This is also referred to as “The Worst Disease You Have Never Heard Of.” It is a skin condition in which the layers of skin and what holds them together is mutated or absent. I constantly have blisters and they can form anywhere on my body. They can be big or small, single blisters or a cluster of blisters. They can be very painful. I am a Butterfly Child; my skin is as fragile as a butterfly’s wings.
There is NO CURE, however, there is wound care to try and make me as comfortable as possible. Bandages, needles, creams, gels, special pads and wraps, and bleach baths are all part of my daily routine. Wound care alone can cost thousands of dollars each month!!!
We recently received the biopsy results and I have a form of Junctional EB. The good news is that I have antigens present that are fighting off infection. The bad news is that doctors cannot diagnose which subtype of EB I have based on the biopsy. Junctional EB can be mild, but it can also turn severe very quickly. It can even be lethal. The mutation can occur in multiple different genes, thus the different subtypes in JEB.
My doctor has now suggested a test called an Xome Slice. This is a blood test in which they can look at the genes and determine which specific ones are affected and hopefully tell us which subtype I have. The information obtained from this could help my parents prepare for any future tests, and/or possible surgeries because JEB affects more than just my skin. My nails fall off and may not grow back. My teeth may not have enamel or grow like they are supposed to so that can require mouth surgeries. I may not grow hair back in areas on my head where I keep having repeat sites of blisters. I can also get them on my eyes, in my esophagus, mouth, intestines and lungs. This can result in many expensive procedures such as surgeries, blood transfusions, feeding tubes and much more.
This Xome Slice test is not covered by insurance and cost around $3000. I know my family cannot come up with all this money at once. I am not expecting to raise all of it through donations, but every little bit of money donated will get me that much closer to an answer for my pain!!!
Thank you everyone for taking the time to read my story. If you can donate to my testing I thank you very much! If not, please spread awareness about this very rare skin condition! For more information on Epidermolysis Bullosa and other ways you can help, please visit www.Debra.org.
Thank you!
Braelyn
Organizer
Chelsey Thiess
Organizer
Valdosta, GA