Aubrie's Journey
Spende geschützt
Described by "Mom" Becky Allen:
As some of you know, Aubrie has struggled with health issues since she was a baby. We have went to countless doctors appointments who have ran a tremendous amount of test but never really came up with any answers. In 2015 we discovered that Aubrie had moderate hearing loss in her left ear and later that year also learned that she had sever immune deficiencies. At that time I thought we were on the road to answers but unfortunately we never received any.
In 2019 we were at a routine Audiology appointment when they questioned if we had ever thought about or been recommended to complete genetic testing. This was a different Audiologist than who we usually see and sometimes all it takes is one persons curiosity! The hope at that time was to see if we could get some answers into the future of her hearing. Was this something that would get worse or stay the same? Since we didn't know what caused the hearing loss (no history of ear infections) we didn't know what the future looked like. Little did we know that genetic test would hold all our answers!
I left that appointment with the name and number of who she recommended we see. Like most of us, the next day was back to work. I thought about when to make the appointment but we had large projects going at work that required my attention. Then the pandemic hit. Not knowing how much time I had off work I knew I wanted to get this appointment scheduled.
We had our first virtual meeting with the geneticist in April and testing started shortly after. The first round of test came back and much to my disappointment did not hold any answers. They wanted to do further testing that was much more detailed but insurance would not cover. I agreed to the test and decided I would pay out of pocket if this is what was going to give us answers. In August I received a call saying they wanted to schedule an in office appointment to go over the results. WE HAD AN ANSWER, finally after 11 years!! Mom's never give up when you feel like something is not right. Even if it takes YEARS.
At that visit Aubrie was diagnosed with ADA2 Deficiency. In short, this is the chromosome responsible for regulating the inflammation in your body. When you look up symptoms, Aubrie fits them to a T. The most serious issues are heart attack, stroke and internal organ damage. Luckily Aubrie did not have any of these!
In September we started her on Humira with the hopes of lowering the inflammation and raising her immune system. Thankfully it lowered her inflammation but unfortunately did not raise her immune system. Which brings us to this page.....
The only known way to fix her immune system is through a Bone Marrow Transplant. We are currently in the process of testing Haylie to see if she is a match. We should have some answers later this week or early next week. If she is not a match, they will go to the donor list and will continue the search there. This is going to be a long road. Aubrie will be hospitalized for the first 3-5 weeks with only her dad and I able to visit (unless COVID restrictions are lifted). Once she is released from the hospital we will have to stay at the Ronald McDonald apartments for up to 5 months. She will not be allowed to be more than 50 miles away from the hospital and my house does not fall within those limits.
I will do my best to keep everyone updated through this page but please feel free to reach out with any questions!
Update 1 - Received some exciting news today.
There was a donor that popped up on the list that is a 10/10 match!!! They have requested the high resolution testing from them.
The original (9/10) matches located had blood drawn last week and we should have those results by the end of the month.
Looks like transplant will be some time in April. We'll know more once we have a confirmed match.
Fingers crossed that the 10/10 match works out!!!
As some of you know, Aubrie has struggled with health issues since she was a baby. We have went to countless doctors appointments who have ran a tremendous amount of test but never really came up with any answers. In 2015 we discovered that Aubrie had moderate hearing loss in her left ear and later that year also learned that she had sever immune deficiencies. At that time I thought we were on the road to answers but unfortunately we never received any.
In 2019 we were at a routine Audiology appointment when they questioned if we had ever thought about or been recommended to complete genetic testing. This was a different Audiologist than who we usually see and sometimes all it takes is one persons curiosity! The hope at that time was to see if we could get some answers into the future of her hearing. Was this something that would get worse or stay the same? Since we didn't know what caused the hearing loss (no history of ear infections) we didn't know what the future looked like. Little did we know that genetic test would hold all our answers!
I left that appointment with the name and number of who she recommended we see. Like most of us, the next day was back to work. I thought about when to make the appointment but we had large projects going at work that required my attention. Then the pandemic hit. Not knowing how much time I had off work I knew I wanted to get this appointment scheduled.
We had our first virtual meeting with the geneticist in April and testing started shortly after. The first round of test came back and much to my disappointment did not hold any answers. They wanted to do further testing that was much more detailed but insurance would not cover. I agreed to the test and decided I would pay out of pocket if this is what was going to give us answers. In August I received a call saying they wanted to schedule an in office appointment to go over the results. WE HAD AN ANSWER, finally after 11 years!! Mom's never give up when you feel like something is not right. Even if it takes YEARS.
At that visit Aubrie was diagnosed with ADA2 Deficiency. In short, this is the chromosome responsible for regulating the inflammation in your body. When you look up symptoms, Aubrie fits them to a T. The most serious issues are heart attack, stroke and internal organ damage. Luckily Aubrie did not have any of these!
In September we started her on Humira with the hopes of lowering the inflammation and raising her immune system. Thankfully it lowered her inflammation but unfortunately did not raise her immune system. Which brings us to this page.....
The only known way to fix her immune system is through a Bone Marrow Transplant. We are currently in the process of testing Haylie to see if she is a match. We should have some answers later this week or early next week. If she is not a match, they will go to the donor list and will continue the search there. This is going to be a long road. Aubrie will be hospitalized for the first 3-5 weeks with only her dad and I able to visit (unless COVID restrictions are lifted). Once she is released from the hospital we will have to stay at the Ronald McDonald apartments for up to 5 months. She will not be allowed to be more than 50 miles away from the hospital and my house does not fall within those limits.
I will do my best to keep everyone updated through this page but please feel free to reach out with any questions!
Update 1 - Received some exciting news today.
There was a donor that popped up on the list that is a 10/10 match!!! They have requested the high resolution testing from them.
The original (9/10) matches located had blood drawn last week and we should have those results by the end of the month.
Looks like transplant will be some time in April. We'll know more once we have a confirmed match.
Fingers crossed that the 10/10 match works out!!!
Organisator und Spendenbegünstigter
Tina Wideman
Organisator
Warrenton, MO
Rebecca Allen
Spendenbegünstigte