First, a reminder that registration closes this week. If you've been considering the match, but putting off registering, now's the time to do it. We're almost to 100 competitors.
Now, I wanted to share the story of another central PA family that was helped by The Prayer Child Foundation. It's a little long, but please take a moment to read through it.
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Averie’s health issues started shortly after birth. She never gained adequate weight. I started out nursing, began to supplement formula and eventually had to put her on formula alone to monitor her caloric intake. She was first hospitalized in September, 2009 for “Failure to Thrive.” At that time, she was only eating about 5oz a day, which was not nearly enough. While there for 5 days, we worked with the feeding team and found that if we thickened her formula, she could eat ok.
She began to eat pretty well for a while. We were home for about a month and the feeding team was not happy with the amount of weight she was gaining and wanted her to be eating 24oz a day. She was only averaging 20oz at the time. In November, 2009, the team decided to place a NG tube in Averie with the goal of supplementing her feeds. The idea was to feed her by mouth first and whatever she didn’t eat by mouth, we would put in the feeding tube. That’s not what happened. Almost immediately after getting the tube, Averie stopped eating from the bottle. Additionally, she no longer wanted to eat baby food or cereal. She began to throw up during every feeding, which is something she had never done before.
We continued to communicate with the feeding clinic and GI departments. We also began working with neurology. Averie had many tests including a swallowing study, blood work, urine tests, sweat tests, upper GI, GI scopes, PH probes, EKGs and a test for SMA Type 1. Everything came back either negative or normal. Though we were happy for these results, we still wanted answers.
Gradually, Averie became weaker and weaker. We noticed she wasn’t meeting her milestones. She wasn’t holding her head up and had very low muscle tone. No one knew which came first, the low muscle tone or the failure to thrive. Averie continued to struggle with every feed and began to lose many of the milestones she had met (rolling and reaching for things). She became less active and just wasn’t her normal happy self.
On December 14th, 2009, we decided to take her to the ER. She was life-flighted to the children’s hospital in Danville, PA. She tested positive for RSV. Doctors there said she was the healthiest RSV baby they’d ever seen and began treating her feeding issues. On December 16th, she was having a stomach emptying study and had a seizure caused by the contrast used in the test. She was sent to the PICU and remained there for the next 2 weeks. During this time, several specialists examined her and recommended tests such as EEG, MRI, CAT scan, another PH Probe, spinal tap, ultrasound of the heart and ENT testing. Again, thankfully, everything was normal.
Doctors said that they were convinced that she was refluxing and that was causing the feeding problems. They couldn’t find anything else wrong. After careful consideration, we decided to listen to the doctors and Averie had a Nissen Fundoplication. This would prevent her from refluxing and throwing up. She also had a G-Tube placed. Things seemed to be looking up. We began to feed her through the G-Tube. She still didn’t tolerate feeds well though. She was getting 3oz in 1 ½ hours. We went home on January 6th, 2010.
After a week at home, feeding began to become miserable. Averie gagged and wretched no matter how much we slowed feeds. We put her on continuous feeds of 1oz per hour. Additionally, she had completely lost all of the motor control she had gained back. On January 19th, I called the surgeon and doctor with her while in the hospital. They wanted to see her right away. The next day, I took her in. The surgeon said everything looked good with her surgery sights. The pediatrician at the hospital admitted her any way because of her rapid decline. He felt that she had a metabolic disorder and needed to be seen immediately by the metabolic clinic in Philadelphia. That evening, we were transferred to Children’s Hospital of Philadelphia by ambulance.
Once here, things happened very rapidly. Averie was admitted to the Integrated Care Service floor. Here, a team of doctors work with children with complicated medical issues. Together, this team works with multiple specialty areas to try to diagnose and treat these children. Thursday morning (the 21st) lots of specialist visited Averie including PT, OT, Speech, the Metabolic team, and the Neurology team. Almost immediately, metabolic disorders were ruled out. They said Averie was too “with it” to have a metabolic issue. Everyone seemed to feel that whatever was going on with Averie was definitely neurological. The ICS team recommended Dr. Carsten Bonnemann, a neuromuscular specialist. Friday, the 22nd, Dr. Bonnemann saw Averie and decided she needed a muscle ultrasound. Immediately, based upon the findings and her motor ability, he felt very confident that she had Spinal Muscular Atrophy with Repertory Distress. This was devastating news for us. We would have the final blood test back in a week. That night, Averie took a turn for the worse. She began having breathing difficulties, a symptom of SMARD. She was put on oxygen and began receiving oxycodone for pain relief.
Tim and I knew what having SMARD meant. Most children with this disease don’t make it past 6 months of age. Averie was 7 months old. The fact that she had taken such a turn overnight was also scary. Doctors began asking questions I never thought I would have to answer. After talking, we decided that we no longer wanted Averie to suffer. We ordered all invasive procedures and activities, including rectal temps, stop. We wanted her to be as comfortable as possible. We also decided that we wanted to take her home where she could be at peace and surrounded by people who loved her. Hospice care was set up and an ambulance was booked to take us home.
Upon discussing our decisions with the Attending Physician, we were told that Averie wasn’t strong enough to make the 3 hour journey home. She didn’t want her to pass away on the side of the highway, in an ambulance. We called all of our family in to say their goodbyes that night. We also began to take pictures like crazy and make footprints, handprints and do all of the other things we thought we would get to later. As difficult as it was, we tried to keep our emotions in check when holding or playing with her. We only wanted her to remember us smiling and happiness. We didn’t leave her side.
Miraculously, Averie began to get some of her strength back. On Monday, Dr. Bonnemann came to see her and was surprised and this development. He was no longer 100% sure it was SMARD. Knowing our plans to get her home, he asked if he could run a couple of tests to check for CIDP and Guillian Barre Syndrome, both treatable diseases. We said yes. The first test was an x-ray of her diaphragm. Children with SMARD have a deformed diaphragm. Her diaphragm was normal and unaffected. The next test was an EMG. This test would check to see if there was both sensory and motor involvement with her muscle weakness. In children with SMARD, there is only motor involvement. Averie had both. Both tests were not consistent with SMARD.
Though we were excited by this news, it was a cautious excitement. We were too afraid to get our hopes up for fear of being let down again. We decided to stay until the final SMARD test results would be back. The doctor suggested muscle, nerve and skin biopsies in order to test for the other two diseases. He also wanted an MRI of her spine to see the level of damage to the nerves. We agreed to the testing with the feeling that if there was any possibility of her having a treatable disease, we wanted to know for sure. We asked that the tests happen consecutively to minimize the pain she would have and avoid anesthesia twice.
In the meantime, Averie continued to slowly improve. The following Friday, we received a miracle. Averie's test for SMARD was negative. However, there was still something majorly wrong with our precious baby. We would spend the next 6 months at CHOP trying to find the appropriate treatment.
While there, Averie’s breathing became more labored. She was put on C-PAP, then Bi-PAP, and finally she received a tracheostomy. At this point, she was dependent upon a ventilator to breathe. As doctors felt that whatever she had was surly treatable, we felt that we must do all that we could to help her. I spent every moment that she was hospitalized by her side. Her dad visited on the weekends and had to work during the week.
The last week of August, 2010 sort of felt like that light at the end of the tunnel that everyone was telling us about was a freight train. We got some bad news. Averie had a gene mutation that has never been seen before. There were 2-3 other children in the world with similar gene mutations that had symptoms similar to Averie. I believe one child was able to walk at 4-5 years of age. However, Averie had the worst nerve demyelination that they’d ever seen. None of the other children were ever as bad as Averie was then. Dr. Bonnemann said that this is something that happened when the cells first began to split during development. It is not something that Tim and I passed on to her. The myelin never fully formed around her nerves. They believe that she then got an infection which sparked CIDP. This caused her to get worse very quickly. The initial plasma exchange worked because it took care of the CIDP. At this point, the underlying disease process had taken over. In similar cases, children have fluctuated, just as Averie had in the past, then plateau and then begin to deteriorate. That’s when they develop respiratory issues.
Averie had made no improvement since March. There is no treatment for what she had. There was nothing more that could be done. Because of the rarity, it was difficult to give us a prognosis. But, we did know that she would not get any better. Her respiratory status was unpredictable at that point. She became completely vent dependent. Because she was not bearing weight and had received high doses of steroids for a long period of time, her bones were very weak and broke even with diaper changes.
Upon receiving an official diagnosis, our goals for Averie and as a family changed. We were no longer trying to wean her from the vent. We were, however, weaning her from other medications that we now know were not helping her. Our goal became making her as comfortable as possible. We did not want her in any more pain. She had truly been through enough. Because nothing more could be done for her at CHOP, we decided to take her home. We didn’t know for sure how long we may have her. But, while we did, we are going to cherish every moment and every breath she took. We returned home on July 14th.
Though this is not the answer we were hoping for, you never want your child to have a problem that’s never been seen before or is untreatable, our hope is that because of what Averie has been through and what has been learned in the course of all this, maybe someday, we’ll be able to help someone going through something similar.
Averie did continue to become weaker after arriving home. On November 8th, 2010, Averie took her last breath. She was in my arms with her daddy and big sister by her side holding her hands. We were surrounded by a room full of people who loved her greatly.
Without the aid of the Prayer Child Foundation, I may not have been able to stay in the hospital with Averie for as long as I did. We had been a two income family and were down to one. I can’t imagine having to leave her side, especially three hours from home. However, the Prayer Child Foundation helped make that happen.