Ruth Ann Svihla came into this world screaming and angry on October 30 2011 at 6:57 am. She was and has always been a beautiful, intelligent child that brought us a great deal of joy, but she was born with many challenges to overcome.
The first such challenge we faced was a pretty severe cleft lip and pallet. Although this turned out to the be the most minimal of her problems, it was significant at the time. She was unable to eat on her own that first day, and we had to feed her through a nose tube. Attempts to teach her how to eat were met with frustration, both from my daughter and from us as well. I went to bed that night distraught and worried at challenges of being a new father of “special needs” child. Would my wife and I be able to cope?
The next day brought more of the same, frustrated parents and angry frustrated baby. But somewhere along the way I realized that she was frustrated not with attempting to eat, nearly as much as being helped to eat. So we stopped trying to help her and she began to eat on her own instantly. We were told most cleft lip and pallet babies take 2 weeks to learn to eat as well as Ruth did that second day. Only two days old and already adaptable and fiercely independent!
A “Normal” Life
After that we settled into being mostly normal parents, my wife made weekly trips to Houston from San Antonio for her plastic surgery consults and we looked forward to the day when she would just be a “normal” kid. However, around Christmas time she became extra colicky and struggled to hold down any food, but otherwise was largely consolable. Eventually she was down to 1/4 of what she’d been able eat before and we ended up in the hospital for a week, just to try to get her some nutrition. She did well once we started getting her fed and we were ready to go home. About an hour before leaving, the doctor pulled us aside in a very concerned tone. Within the hour, we were in an ambulance on our way to Texas Children’s Hospital in Houston and so began our next chapter.
We went through so many hills and valleys with our subsequent trip to Houston, which would become our home, that it would take a book to tell it all. Let me summarize and tell you all that I have watched my daughter lose the ability to move entire limbs, to smile, to otherwise become inert for long periods of time, but I’ve also had the opportunity to watch her go through a lifetime’s worth of conquered challenges.
Pompe disease can be quite deadly and horrible to go through. The key metrics for survivability are catching it quickly (which we did), and having a type of the disease that responds to treatment (which Ruth had). The journey to finding out those two realities unfortunately took a month and a half and the damage in the meantime was quite severe. Pompe disease is exceedingly rare (1 in 40k births depending on population) and is rarely caught when it occurs. Most cases are believed to be misdiagnosed as SIDS as the infantile form of Pompe disease typically has a 6-8 month life span. Pompe patients are unable to process glycogen fully and so it stores in their muscles. Once the levels become toxic the muscle tissue becomes damaged, sometimes permanently. Despite this it can be managed often quite well, and we’d incorrectly believed at the time of her diagnosis we could return her to a “normal” life with some small challenges.
Ruth to her credit treated life as “normal”. Despite having a heart far weaker and larger than many kids on the transplant list and having a muscular dystrophy she was able to become a constant ball of motion and troublemaking whereas many kids on the transplant list are suffering.
After 2 1/2 months in TCH thanks to some amazing doctors, nurses, and therapists (OT/PT and RT) we were able to go to our new home in Houston and manage her disease from there, which was within a mile of TCH so we could make her multiple per week appointments. Initially everyone was pleased with Ruth’s progress and we were filled with hope. However, after 4 months her heart remained stubbornly weak and it had actually slightly grown over the preceding months. Most kids with Pompe disease that can handle it’s primary treatment Myozyme get fully healthy functional hearts in time, their other physical attributes often never fully recover. In Ruth’s case she was able to physically move as if the Myozyme was working exceptionally well, but her heart was telling us it was not working at all.
Routine checkups can be so very non-routine
On sept 18 we checked back into the hospital after routine checkup told us her measurements for heart failure had suddenly gotten very bad. Within the day we were told she was going to have to be intubated and at her level of heart failure it was extremely risky and likely lethal Within 5 hours one change led to my daughter sitting up on my lap and giggling as if nothing wrong had ever happened. By 3 am that night she’d woken up half the infant pod on the CVICU floor with her squeals of delight. I realize looking back now this was the moment that Ruth proved she was just content to find what joy she could at any time. She’d had at least 2 near death experience before her first birthday, and I think she knew at some level she could feel terrible one minute and great the next, so why not just enjoy the good ones.
I wish I could tell you it was an amazing recovery after that. We tried many times to get her onto “normal” support and we failed many times to do so. Her patience with hospital care basically became zilch, however, otherwise she continued to be a very happy baby. She learned a great deal, started to sit up on her own support for up to a minute at a time, and in general was a complete joy in our life. She became very sneaky. She would spend hours trying to pull bandages off, or pull out NG tubes, and do “fake” coughs for somehow more attention. She did all of this in between the constant attention and support she received from her mother, her aunt and I, not to mention the whole hospital of people trying to help us.
Nevertheless her heart continued to be stubborn. We tried to get the board to consider a heart transplant, but as there were many complicating medical factors I chose not to go into that could lead to the heart being destroyed in a matter of months, they were obviously unwilling to take a heart away from another kid waiting transplant that would benefit. By Christmas time the side effects of heart failure led to her lungs filling up with fluid and she became oxygen dependent. We slowly watched her fade away by inches and we were convinced that we’d lost her, despite our constant efforts and the level of care she was receiving. A preliminary genetic test came back indicating she may have a chromosomal defect related to dilated cardio myopathies. This could explain how her heart was so much weaker than is normally seen in Pompe patients, it could explain how the Myozyme was not remodeling her heart. However, this along with several other factors made her case completely unique in the truest sense (the only child on record with her genetic variant of Pompe), and so it made the path much murkier for us and for her team of doctors. It also probably meant that not only would we never be able to give her a “normal” life, and we would be in for the fight of our life to keep her alive. She could have not one by two commonly fatal conditions that have expected lifespans less than she was already alive.
Despite all of the bad news and despair her parents were feeling, Ruthie decided it was time to get better. So much so that we reduced support until we were able to get home January 18th, four months to the day after checking into the hospital this last time.
Joy and Heartache
My daughter was probably happier than all of us to be home. She was surrounded by those she loved the most and was no longer being poked and prodded by strangers. We began to believe again that she may yet surprise us and recover completely. Then one morning she became very clingy. I had to hold her that entire weekend as she seemed unable to be away from me for any length of time. After having gone through what we had I was completely content with the task of holding my daughter close, until Sunday afternoon when she became very uncomfortable. I wrote in my journal that day that I was suddenly fearful she did not have nearly as long as we’d hoped and I was afraid that this may be it. We talked to the on call medical staff, her recent labs had been a bit elevated but otherwise in range for her, they were concerned but knew we didn’t want to go back into the hospital as everyone knew we may never get back out. So we decided to make adjustments in her care to compensate (lay off some diuretics and add some pain meds) and stay home until her appointment the next morning.
Unfortunately, at that appointment her labs came back horrifyingly bad. Her kidneys were in the process of completely shutting down. We tried one last ditch attempt to save her and checked her into the hospital and tried IV therapy. You see if you have an extremely bad heart and your kidneys shut down you’re in a very bad place. Most of the interventions you’d do for one problem are blocked by the other problem. Over the next 16 hours my daughter degraded quickly. We got her quickly into hospice care and at 9am on January 30 2013 while bathed in sunlight and surrounded by family my daughter finally rested a rest that was more complete than her mother and I could ever give her.
A Lesson Of Resilience
It’s easy to see nothing but heartache and tragedy in Ruth’s story, and my humble writing skills and lack of eloquence do her an injustice. Despite this I hope you were able to see that no matter what happened to my daughter, she was happy every moment she could be. She got better every chance she got.
Through all of her tragedy and setbacks my daughter played video games meant for 7 year olds on her iPad, got to see her first birthday, learned how to smile not once but two times, had favorite movies, danced to Miles Davis and Louis Armstrong and screamed for joy an untold amount of times. I’ve never loved anything more on this earth, and I’ve never been so proud of anyone ever as my daughter. She had a mountain sized heart physically and in spirit, and she never ever gave up.
At this horrible time it’s easy to want to stop trying to try at all, but she was unrelenting in trying no matter the difficulty. It’s easy to be sad all the time, but she was happy every chance she got. It’s so incredibly easy to not want to live anymore, but that would do the ultimate disservice to her repeated attempts to live.
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