Ava Needs Your Help To Get Better!

Our 3-year old, Ava, suddenly became very ill before Thanksgiving this year. She became very swollen in her face and stomach, so we rushed her to the hospital.  We recognized her symptoms were that of Nephrotic Syndrome, a rare kidney disease that almost overcame our firstborn, Conner, 8 years ago.  We are now facing a mounting pile of medical bills as we help Ava fight her disease and we need your help. 

(Here's Ava this fall with her brothers, Aiden and Conner.)

Our History with Nephrotic Syndrome

At 11 months, Conner was diagnosed with Nephrotic Syndrome.  He was hospitalized for 5 months because he was resistant to steroids, the first line of treatment, and not responding to other medicines. It was a scary time; we were not sure if he was going to make it. Conner underwent a kidney biopsy, had a PICC line (a catheter inserted into the arm to deliver medicine over a prolonged period) because of the length of his stay, and was given tons of immunosuppressant drugs.

 Eventually, the doctors determined the right combination of medicine and treatment and, after a few years and several hospital stays, they officially diagnosed Conner with Minimal Change Disease, a type of primary Nephrotic Syndrome.  He has been in remission since he was 5, now he is 9! The doctors told us this disease is rare and not likely genetic, so we did not have anything to worry about with our other kids.

But here we are, battling Nephrotic Syndrome again with our baby girl. This time, it looks like we are dealing with FSGS, a more severe form of the disease than Conner had. She has been in the hospital for the majority of the last 5 weeks. If you know Ava, you would barely recognize her due to the swelling, which has made her beautiful face look totally different. 
 (This is a picture of Ava before and after being diagnosed.)
(Here's Ava, joyful as ever, despite being hospitalized, swollen, and with a port in her arm.)

Our first battle with this disease took an emotional and financial toll on our family.  Quite simply, it took all the money we had to fight this disease on Conner’s behalf.  Once again, we are faced with mounting medical bills and costs. 

Ava’s Future?

The worst-case scenario could be many hospital stays, immunosuppressant drugs, a future of dialysis, and a potential kidney transplant. (Any other possibility would be wonderful!) Since we have 2 children with the disease, the doctors suggest genetic testing to better understand the type of Nephrotic Syndrome she has and to determine the right treatment for Ava.  To learn more about Nephrotic Syndrome, please see the information at the end.

 We Need Your Help

My husband and rock, Shawn, has been a stay-at-home dad ever since Conner’s diagnosis, because Conner could not be around other children while on the immunosuppressant drugs and he needed full-time care. Shawn continued to stay at home with our other children and was planning to go back to work once Ava was in school. Now, of course, all of that is on hold until we find out how Ava will be responding to treatment. Because we are a one-income family, we are struggling.

 As any parent knows, the concern for your child's health and well-being can be overwhelming when they are sick. And we will do anything to help our Ava, even ask people for help.

The medical bills are already beginning to pile up. We have a $12,000 yearly deductible, which we met for 2016, but will reset on January 1. So out of the gate we’ve had to pay $24,000. The monthly medicine is an additional $300-500 a month, which does not count to the deductible and is only partianlly covered by insurance. We will each be undergoing genetic testing, estimated to cost $36,000 ($9000 per person), to help determine the form of her disease and our treatment options, which is also not covered by insurance.  There are countless other costs associated with being in and out of the hospital and this is a chronic disease that we will be dealing with for years.  In the short term, we believe that the costs will be over $60,000, which does not include any potential dialysis or transplant.

We didn't expect to battle this illness again. We don't want to ask this of our friends and family, but we must for the sake of our kids. Anything you can give is so deeply appreciated, more so than you'll ever know.  If you can't contribute, please share your prayers and support, and if you could share our story with your friends and family we'd appreciate it.

Ava is our baby.  She is always happy, smiling, and friendly.  She has an amazing sense of humor and has been an unbelievable trooper through all of this. She loves to tell the nurses to smell her feet just to make them laugh!
 
We love all our children, but Ava is the light of our life. She is the one who cheers us up when we are having a bad day, she is the one who demands that we all hang out together as a family, she is the one that enjoys making others laugh with her amazing sense of humor. Without her, the light of our life would not be as bright. She touches everyone she meets with her big smile and laugh.

Please help us get our Ava Bear the help she needs so she can get back to the important work of being 3.

- Breanne and Shawn Buterbaugh
 

More About Nephrotic Syndrome and Minimal Change       

 Nephrotic syndrome is a rare syndrome that later develops into a kidney disease--the kidneys start dumping protein into the urine instead of keeping it in the bloodstream. There are two variations of the primary Nephrotic Syndrome.  The first is Minimal Change, which is what Conner has and which people grow out of.  The second is FSGS, which later develops into end stage kidney disease and kidney failure. It is very rare for 2 children in one family to get this syndrome, which likely means it is a genetic strand.

Minimal Change disease, usually means a few hospital stays, being on some strong medicine and growing out of it by teenage years. If it’s FSGS, it is likely that Ava’s kidneys will fail and she will be on dialysis. They sometimes do kidney transplants, however it is likely that the FSGS will come back even after a kidney transplant. Also, it takes up to 3 years to wait for a kidney for a transplant. There are 100,000 people in the US waiting for kidney transplants. Every year 5,000 people will die just waiting for one.  

Usually the genetic strands are FSGS, however Conner did not follow a normal course with the disease so the future for Ava is very unclear as to which type of Nephrotic Syndrome she will have. We need to do genetic testing for us as the parents, Conner and Ava to determine what type of nephrotic syndrome she has and how to adequately treat her.

 For Ava, we were in the hospital over Thanksgiving for her to be started on Steroids for 6 weeks. She also got albumin to try and replace the protein that she is losing and Lasix to decrease the swelling. She was discharged after 4 days and then we went back to the hospital about a week later for about 3 days. As I am writing this now, Ava was readmitted on Dec 22nd, 2016 and will be in the hospital until at least Saturday Dec 31st.

 The hospital worked with us to allow her to have a few hours at home on Christmas day, which was amazing. She is getting a lot of the same meds through IV to give it one more hopeful shot of working. If not, she will get a kidney biopsy on Thurs to see if she has any permanent kidney damage already and we may find out if she has FSGS or minimal change. The problem with FSGS is it is not present in all parts of the kidney, so even if we do not see it on the biopsy, there is still a possibility that she has FSGS. Only time will tell as we see how and if she responds to the medicine. Genetic testing and repeated hospital stays and medicine over time will tell us what she has.