Meet "angel" Kate
June 28, 2014 - September 25, 2014
My husband John and I found out we were expecting another child on October 24, 2013. We couldn't wait to give our then 1yr old son, Jack, a sibling. On February 4, 2014 we found out that Jack was going to have a little sister and couldn't be more excited. It was going to be just perfect, we were going to have a boy and a girl. My pregnancy was also much easier this time around which was a bonus! Kathryn Jane Bamford, aka "Kate", was born June 28, 2014. She was a beautiful, healthy, full term baby girl weighing in at 7lbs 7oz. The first 6 weeks of her life were pretty uneventful health wise. In those first 6 weeks, life was perfect. Kate met her cousins, spent lots of time with her goofy older brother, went on lots of Target runs, to the zoo twice and on lots of family walks. She was turning in to a great sleeper which was a nice change of pace from her older brother. Everything was going wonderfully until mid August. That's when what started as a simple upper respiratory infection turned into a parent's worst nightmare.Through the course of several hospitalizations things went from minor to worst case scenario. Our first hospitalization we left with the diagnosis of rhinovirus(the common cold). When she continued to breathe fast a few days after we were discharged, we were sent back to hospital. This time we learned that she had a defect in her diaphragm known as an eventration and that her diaphragm was partially, if not fully paralyzed. This explained the persistent rapid breathing as she was using all of her chest muscles to breathe to compensate for her defective diaphragm. We were told it was something to watch closely and that she may need surgery in the future, but that as long as she was eating well, gaining weight and maintaining her oxygen
saturation(which she was at that time), that we could go home and follow up in a few weeks when the she was over her virus. The following week however, she began having trouble eating and subsequently wasn't gaining weight. After speaking with her pediatrician several times and attempting reflux medications with no improvement, we decided she should be evaluated again. I took her to the pediatrician's office and upon arrival, we noticed she was looking very pale. They checked her oxygen saturation and it was in the 80's (normal is 92-100%). They quickly put her on oxygen and called for an ambulance to take her to the ER of our local hospital. Assuming she needed surgery to repair her diaphragm sooner than anticipated, we were flown from the ER to a Children's Hospital that could do the surgery. Once there, Kate stabilized on her oxygen and because she still testing positive for rhinovirus, surgery was put on hold. We then spent 6 days working on a feeding plan and preparing to take her home on oxygen until she was stronger and healthier for surgery. During this hospitalization though, I noticed that her feet were looking funny. When I asked the Dr's at this hospital, they assured me it was just normal "in-toeing" and would go away as she grew and began to bear weight on them. After much frustration with getting her to eat by bottle(I had been breastfeeding until this point), we were sent home and told to follow up in a month with surgery. I took her home, knowing that the feeding plan we had put in place would likely fail and I'd be back at her regular Dr's office soon. The day after discharge I spoke with her pediatrician again and we agreed that she needed a temporary feeding tube to help her eat and we were sent to a surgeon at our regular hospital to get one(luckily I knew how to manage this tube because I did it regularly as a nurse in the NICU). We got our supplies, I put the tube in, and hoped that would be it until she was ready for surgery. Sadly, it wasn't. That evening and the following day she started showing signs of discomfort with eating, even through the tube. I knew something just wasn't right, so we went back to the ER. We were admitted and that's when we started to investigate more. She was seen by a GI specialist, Neurologist, OT, Pulmonologist, Surgeon and her regular pediatrician at this point. Immediately the OT and Neurologist noted that her feet were NOT normal and that she in fact had foot drop. They also felt her tone was not normal, which was something that had been questioned in the past by myself and other Dr's, but it was never quite apparent if this was related to her breathing and nutritional decline or a new symptom. An MRI was ordered to see if she had suffered a stroke or had any other abnormalities that could explain her symptoms. That came back normal. The Neurologist then decided that she would need an EMG to check the nerve that controlled the diaphragm.
While we waited for this to be done, I continued to research her growing list of symptoms on my own. One night when I searched for "eventration and foot drop" I came across another parent's blog. As I read through the list of symptoms my heart sank. Out of the 15 symptoms listed for a disease called Spinal Muscle Atrophy with Respiratory Distress or SMARD, Kate had 11 of them. Suddenly symptoms we didn't quite know why she had all fit into one package, and it wasn't looking good. I knew in that moment I had figured out what was going on my little girl and I was sick to my stomach. The following day a Geneticist came to see Kate to determine if all of her symptoms fit a particular syndrome or disease. I mentioned my findings about SMARD and was shocked when he told me he had never heard of it. He assured me that he would look into it though and discuss it with her team if he felt it fit her findings. He also told me that he teaches his residents to listen to the parents because, "90% of the time they are right or at least on the right path." Later that morning her pediatrician came in to see her and I mentioned SMARD to her as well. She also told me that she had never heard of it and would be sure to research it. About 20 minutes after she left she called me and told me that she had looked it up. She agreed that it all made sense and told me she was forwarding the info to the rest of Kate's team. I was devastated, I had wholeheartedly hoped that my suspicions would have been met with a response of, "stop reading the interent" or "you're crazy". Instead I had gotten, "wouldn't it be something if you're the one who figured this out?!". That afternoon, I received a call from the neurologist who told me there was one piece to the SMARD diagnosis that didn't fit Kate. She explained that upon her first examination of Kate she noted her tone to be "high" and SMARD kids have "low" tone. She told me she'd be by in a few hours to reexamine Kate and conduct the EMG and discuss SMARD more. When she came in for the EMG, she noted that Kate's findings were abnormal, especially in her legs. She also told me that on this day, Kate's tone did appear to be more 'low" than "high" like it had a few days before(most likely because we had switched her from a regular nasal cannula to a high flow nasal cannula and as a result decreased her work of breathing some, allowing her to relax a little more). She sat my husband and I down and told us that based on her findings, she would recommend testing Kate for SMARD. This was a genetic test that could take up to 40 days to come back. Even if she tested negative for the known mutations, it did not completely rule it out though because it is such a rare disease, that all the mutations were not known. My husband and I were crushed, it didn't seem real. How did we go from having the common cold to this?! We cried and discussed what this would mean for Kate, and our family. That evening we sat down with her whole medical team and discussed what this could mean for Kate. We were told that SMARD, which is similar to SMA, is essentially like ALS(Lou Gehrig's disease) in babies. Her mind would remain unaffected, but her body would continue to lose strength. Having researched SMARD myself, I knew what the options were-tracheostomy or hospice. We were advised to not make any decisions until we had an official diagnosis, but in my heart I knew that the diagnosis would take longer then Kate had. Eventually, the Dr from the PICU came to discuss Kate's "code status" with us. This was a difficult conversation to have, but one we knew was coming. We agreed that in the event that Kate stopped breathing or her heart stopped, we would not intervene and we would let God take her. This was not an easy decision to make, but we knew putting Kate on a ventilator to wait for a diagnosis only meant that we would be faced with having to take her off the ventilator once those results came back. All of her Dr's had agreed that whatever she had, SMARD or not, that it was something neuromuscular, progressive and if she was unable to breath on her the only option would be to trach her. For my husband and I, we knew the diagnosis didn't change the outcome for Kate. We were soon moved from the pediatric floor to the PICU so Kate could be on higher oxygen flow. We attempted CPAP and BiPAP, but Kate HATED it. It was extremely stressful to sit by her bed day in and day out, wondering if today would be the day she stopped breathing and if I would have the strength to let her go when it happened or if I would panic and ask them to do everything to save her. They then asked if we'd like to take Kate home on hospice. Until this point, we didn't think it was an option. Over the next few days arrangements were made and after lots of planning and some critical thinking by the respiratory therapists at the hospital and the hospice team, we finally got to take our girl home.
It was so nice to be together as a family again and away from the hospital. After a month and a half of being in and out of the hospital, we were finally home to stay. It also was a relief to know that her when she passed, it would be more peaceful and she'd be surrounded by her family. Kate was home for 3 days before she passed away in my arms, on September 25, 2014, at just shy of 3 months old. She was surrounded by her family and it was a peaceful as it could be. When she died, her SMARD testing was only on day 10 out of a possible 40. Her official results did not come back until October 12, 2014 and they confirmed what I had known since the day I read that blog, Kate had SMARD. My husband and I were tested and we each carry a different gene mutation in the IGHMBP2 gene-the gene responsible for SMARD. Kate got a copy of each of our mutations which is why she was born sick. There was no way to see this coming, because SMARD is not something that they routinely test for prenatally and we had no known family history of something like this. Even though Kate’s story didn’t have a happy ending, I feel blessed to be her mother and part of her story. I can only hope that sharing her story helps in some small way to find a cure someday for this horrible disease.
Click to visit Kate's personal blog page