John, our firstborn, was a healthy baby, curious and a bit colicky as a baby. Milestones were all normal for John, but whenever he caught a cold, or any other virus, it seemed he took a long time to recover. He was almost three years old when he was hospitalized for a bad stomach flu, was dehydrated and was not bouncing back as doctors would expect. This was the first indication that something was very wrong, as John became acutely paralyzed and deteriorated before our eyes. He was transferred into ICU, and no one could determine why he was decompensating. We did not have the benefit of any newborn screening when John was born, as there was not newborn screening for fatty acid oxidation disorders at that time.
He remained in the hospital on IV fluids, and received a diagnosis of Guillian-Barre. Once he was strong enough to be sent home, after about 7 days, we entered the world of physical therapy to try to rebuild his strength. One important medical fact we learned at this time, was that John had no reflexes in his ankles, knees or elbows. Doctors determined that this was an indication that the diagnosis could only be Guillane Barre syndrome, but we would find out years later that this was not correct.
He was “hospital free” until about the age of 4, and we had another stomach flu….and we found ourselves again back in ICU with a child who was not able to walk on his own. Recovery was slow, and again, we attended physical therapy to rebuild strength. Another interesting thing began to happen when John was physically tired, and he began walking on his toes. This became a problem as he grew during elementary school, and we consulted a doctor about trying to help strengthen the tendons in his legs that became so tight as he toe-walked. This lead to casts being placed on his legs, and he slept with the casts for many years as he grew, up through the end of 5th grade. We had additional hospitalizations over elementary school, and continued to search for a diagnosis, with multiple tests showing no answers. At one point John saw a neurologist, a physical therapist, his pediatrician, an immunologist, and a pulmonologist.
Our diagnosis came after a trip to Washington, DC, when John was in significant metabolic crisis and a nephrologist suggested that the condition may be genetic. This was in early in 2010, and we began the search after a google search lead us to Cleveland Clinic, to see a pediatric neurologist that specialized in metabolic disorders. It was through this connection that we were finally clear on the diagnosis, as John suffers from Trifunctional Protein Deficiency. In high school, John would be hospitalized 5 times during his Junior year alone, which made the prospect of a rigorous college education seem out of reach.
Thanks to the efforts of the team at UMPC, John continues to do well in his daily life, attending college, travelling and maintaining a moderate exercise program. We are a grateful family for all that INFORM does for the Fatty Acid Oxidation community, and look forward to the continued research on fatty acid oxidation disorders and treatment options for John and the community.
My name is Tasia Rechisky. From the outside, I look like the average twenty-seven years old, but in reality, I live with a rare, chronic, but for the most part invisible, illness. At four months old, I was medevaced to Boston Children’s Hospital after falling into a coma. No one had any idea why. My parents had started that day expecting to go to my cousin’s wedding and ended it rushing to the hospital, hoping their child would live.
A few weeks earlier, my parents brought me to my local pediatrician. I was projectile vomiting and very lethargic. My pediatrician agreed that something was, in fact, wrong, but he could not figure out what. He ran countless tests, but they all came back negative. Knowing this was out of his area of expertise, he referred me to the larger regional hospital for further testing. That further testing included an echocardiogram, since he heard a distinct heart murmur. Unfortunately, I did not make it to that appointment before going into a metabolic crisis, but that was not known at the time.
The echocardiogram was done upon my arrival to Boston Children’s Hospital, showing my heart was enlarged five times the normal size. Under the care of the cardiology unit, they still could not figure out the cause of my cardiomyopathy. The only thing they could think to do was to do a heart transplant because my heart, as it was, was failing.
By some stroke of luck, there were two residents, specializing in genetics and metabolism, doing their rotations at Boston Children’s hospital at the same time. They saw me in the cardiology unit that day, read my case and asked if they could run some further test. They sent blood tests and a skin biopsy to Duke University to find more answers. The tests took weeks to come back. When they finally did, the tests confirmed the doctors suspicion that I had a fatty acid oxidation disorder. I was first diagnosed with LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency,) but further testing showed that I had VLCADD (Very long-chain acyl-CoA dehydrogenase).
Having a new baby is change enough, never mind learning your child has a rare disease that will impact them for the rest of their life. I was in the hospital for months recovering. My Mom slept (or likely didn’t sleep) on a cot next to my bed every night while my Dad traveled back and forth from NH to continue working and supporting our family and the compounding medical expenses. Eventually, I had recovered enough to go home. Little information was available about what it was like to actually live or care for someone with a fatty acid oxidation disorder. At the time, there were not many children surviving. My parents were warned to not look on the internet. The several support groups and resources now available did not come until years later. They just did the only thing they knew how to do which was take it day by day. There was a lot of trial and error. For the first two years of my life, I had a nose tube to ensure I got enough nutrients. My dad became an expert at putting in my nose tubes to spare my mom from having to essentially inflict torture on her child. Eventually, with occupational therapy, I was able to get rid of the nose tube and orally consume all my food.
After those early years, my childhood was relatively symptom free with the exceptions of bouts of low blood sugar. My parents were warned by some not to send me to public school, as I would be too susceptible to illness, but they refused to let my disorder control my life. I went to public school and participated in extra-curriculars, including sports, just like my friends. It just required a few more precautions. I would have to take my medicine during school and always carried snacks and Gatorade, especially when taking part in physical activity. My parents educated the teachers and administration about my disorder and set up a 504 medical plan with the school, but most importantly, they taught me to advocate for myself. There were always going to be people, despite what any documentation said, looked at me and saw a normal, healthy kid. They thought my disorder was an excuse to get out of doing certain things, when really that was the farthest from the truth. I would often push myself beyond my capabilities just to please people or not let people down. Coming across those people and confronting them always hurt. It still does to this day.
I always knew I was different, but I did not really feel the heavy social and emotional weight of my disorder until adolescence. Once puberty hit, I started to experience many more symptoms including severe pain, fatigue, and worst of all, rhabdomyolysis. Any time I got a cold, I would end up in the hospital. One day, after skiing too much with my friends, I ended up with CPK levels exceeding 40,000 and had to stay in the hospital for two weeks. I was out of school for at least a month with an in-home tutor. I started to not be able to keep up with my peers, miss out on important events, forced to quit my favorite activities and sports and even lost friends who just did not understand. I started to resent my disorder and become bitter and depressed. I also felt very alone, as on the surface, everyone around me seemed to have a perfect, illness-free life. I would constantly ask “Why did this have to happen to me?” While my friends worried about what to wear to the next dance, I was all the sudden stressing over adult things like doctors’ appointments and test results. I was also struggling with pain on a daily basis. I was too stubborn to seek counseling, even though it had been suggested many times and my depression became worse.
Luckily, I had an amazing doctor who always went above-and-beyond. Do you remember the medical resident who figured out my diagnosis earlier in the story; it was him! He was my metabolic specialist for twenty years. He started to notice my quality of life was decreasing and the toll it was taking on my overall health, but especially my emotional well-being. He suggested a new medicine that was part of a medical trial. It was in the early stages and the risks and effectiveness were not completely known. My parents being the super parents they are looked at each other, obviously concerned, but then looked to me and said “This is your decision to make.” At that time in my life, being desperate to return my life to the way it had been, I would have tried anything. I eagerly said “yes.”
Later that year, I flew to Dallas to start the trial. It truly changed my life. I never quite returned to the carefreeness of my childhood. But with discipline and caution, I was able to do things I had once done without the constant interruptions of rhabdomyolysis and hospitalization. I had to make slight adjustments in my diet, but for the most part, the medicinal regiment was very similar.
I was able to go away to college and get two degrees from Boston University. I was involved in many clubs, including the occasional club sport. Again, I was in a world where unless I told someone, they probably would have never known I had any type of illness, but for the first time, I had the strength and the attitude to be able to share my story. As I started to see how sharing my story could help and provide hope others, I also became empowered. I started thinking about what my disorder had given me rather than what it had taken away. There is definitely a stigma around illness and talking about it. It makes most people uncomfortable even though all of us, on some level struggle with illness or have a person we are close to who does. With all my relationships, I try not to hide my disorder anymore and rather have an open, honest discussion about what it means.
I know for a fact that I would not be the same person I am today if I did not have VLCADD. It has its positives and its negatives, but I try to live every day focusing more on the positives. I still get super frustrated that I cannot be spontaneous. I will admit my disorder has made me somewhat of a control-freak as regimen and planning is what has kept me alive and helped me become so successful. And I won’t lie, there are still times that I wonder what it would be like to live, even just a day, as a completely healthy person. But I also think it has made me more empathetic to others and their struggles. Everyone is fighting a battle. It is so much easier when there are other people who at least try their best to understand. I am a very team-oriented person because every step of the way I have had support, from my parents, friends and a team of doctors. I often think about the people who do not have that same level of support or access and how much harder it must be to thrive. That is why I so admire the mission of INFORM to promote research and information on fatty acid oxidation disorders. The more awareness we bring and the bigger our community, the greater our understanding and the more we can accomplish!
The day had finally come. The day we were to bring our long-awaited, beautiful baby boy home from the hospital. It couldn’t have come any sooner. Between the constant monitoring of his low blood sugar, regulating of his body temperature, and the time he spent away from us in the warmer, we were ready for some quality time alone with our little Promise. That’s what his name means, promised one. Our sweet Canaan. We finally get the green light for our departure from Northside Hospital, formerly known as the Baby Factory. We get home and settle in with our newest addition, my brother and my husband’s mother. It was an exciting and exhausting first night.
No one could have warned us how quickly that excitement would turn to paralyzing fear and helplessness. We wake up the next day to a phone call from the Emory Genetics Clinic. I answer the phone and everything from the moment I said hello is a blur. I do recall an explanation of a disorder I had never heard of, strict instructions to stop breastfeeding immediately, and an urgent request to go to the local children’s hospital. They would be waiting for us. We needed confirmatory testing as some children in the past have received false positives on the newborn screen. The statement that was stamped in my mind was, “I am pretty confident that your child has VLCAD because his CKs are so high. We like them to be under 300, and his are 5,000.” Cue the uncontrollable tears and my husband taking the phone to continue the conversation. The next hours and weeks really, was a complete whirlwind consisting of blood draws, echos, IVs, conversations with doctor after doctor, research, explanations to close friends and family, and prayer. So. Much. Prayer.
Absolutely nothing could have prepared us for Canaan’s first crisis. Or his second. Or his third. No amount of research prepared us for the arguments we would have with hospital staff who assumed to know more than us about a disorder they have never even heard of. Or how assertive we would have to be with insurance companies refusing to cover Canaan’s lifesaving metabolic formula. No one could have prepared us for the financial strain we would experience due to week long hospitalizations, ambulance rides, ER visits, specialty doctor’s appointments, or the expense of buying food that he can actually eat. But we also weren’t prepared for the amazing connections and friendships we would create with other FOD families. Or how the need to stay home with Canaan as opposed to sending him to daycare would create a bond between us that is stronger than I’d ever imagine. And never in a million years would I expect Canaan being born with a serious and rare, metabolic disorder actually strengthen our faith and trust in God and His oftentimes mysterious plans for our lives. But it did. And I am forever grateful.
My gratitude doesn’t stop there. My family is ever grateful for the dedicated INFORM team and their commitment to research and treatment of fatty acid oxidation disorders that is sure to help not only Canaan, but many more families and the entire FOD community.