No one ever thinks that in their seasoned years as a parent, after three beautiful children, they would be fighting false child abuse allegations. Or worse yet, in jail during their child’s first Christmas and first birthday. But that’s exactly what happened to me. My name is Kylie and our third child was misdiagnosed with NAT (Non-Accidental Trauma).
I had taken our two month old son, Fynn, into a well known children’s hospital in Delaware. He is the youngest child of three, between my husband and myself. I ran our son into the hospital, still strapped into his car seat, begging for help. Fynn was refusing to nurse two days post-frenectomy (a lip and tongue tie revision) and projectile vomiting as soon as we pulled onto the hospital grounds. Fynn had a full workup that I was more than happy to go through. He had x-rays (to look for an intestinal blockage), a physical evaluation, and bloodwork. Fynn was diagnosed with parainfluenza, a brain “abnormality”, and eight rib fractures. I was floored, upset, and confused. How could my child have fractures when he had never left my care? How could he have a “brain bleed” when nothing had ever happened to him? I had no answers, only questions and guesses. Because I am Fynn’s mom and I wanted answers more than any medical professional in that building. The hospital did no further research, testing, or evaluating to determine whether Fynn had any bleeding disorders, bone diseases, or genetic disorders. They treated me as a suspect right away.
Thankfully, being of sound mind, knowing the love our three children had always experienced and the patience they had always received, I knew this diagnosis was my first ever life encounter with a doctor being wrong. So I set out to research what other things could have caused this. Knowing my grandmother had been borderline rickets as a child, this was the only lead I had to go on.
One late night, searching the internet for answers, I stumbled across an article about a mom and her very young baby. Her infant son had over 18 fractures and she was immediately investigated for child abuse, but the mom was in the midst of an alternative diagnosis, already backed up by doctors and scientific based medical research. This was so much like my story, I couldn’t stop reading. In the article it stated that this mom not only fought the false allegations, but found a team of doctors who fought for her pro-bono. This team of doctors was led by world-renowned Endocrinologist, Ehlers Danlos expert, and Vitamin D expert; Dr. Michael Holick. Dr. Holick was flanked by numerous other experts, many of whom went on to aid in my own case.
Dr. Holick and his team saved my family’s life. Not only did we receive one on one medical evaluations of the course of several hours, Dr. Holick made sure our time visiting his clinic in Massachusetts wouldn’t be a waste of anyone’s time. Only two weeks prior to our visit, he screened me into his clinic via a phone consultation. He asked me so many questions about my body, “does it do this?”, and “does it do that?”. I thought the questions were weird, but I answered them honestly. At the end of the phone consultation, Dr. Holick told me it sounded like I had a connective tissue disorder and hypermobility disorder known as Ehlers Danlos Syndrome Type 3. It was explained that as a result of me likely having it, my children would likely have it, which they do! It was also explained that this Syndrome wreaks havoc on its occupants for a number of reasons, but one major reason being a Vitamin D deficiency. Vitamin D deficiencies are very serious for pregnant mothers and their babies, as babies only receive 70% of the vitamin D their mother’s body has. Mine was 19 ng/mL, with a normal range being over 30 ng/mL. This would have put Fynn’s Vitamin D levels at just over 13 ng/mL, well within rickets levels.
My mother, myself, my husband, and our three children drove over ten hours to Boston Massachusetts to be evaluated in Dr. Holick’s clinic in July of 2019, where we received our hEDS diagnoses. My husband did not have hEDS, but the rest of us were and it has been evident in my family for generations through so many characteristics noted on our family tree.
We were then referred to a pediatric radiologist, a pediatric geneticist, and a pediatric neurologist. As it turned out, our diagnosis was not only peer reviewed by these doctors, but we were given the official diagnosis of MBDI (metabolic bone disease of infancy). This diagnosis gave us a more specific answer of Rickets. MDBI/Infantile Rickets causes bone fragility, in which infants under 12 months of age, have several unexplained bone fractures due to the perfect storm of deficiencies. There are other identifying features of Rickets, as well, which Fynn presented with. As for the “brain abnormality/brain bleed” diagnosis the Childrens’ Hospital had given us, we received a very in-depth, correct diagnosis of a blood clot. Ironically this clot was caused by the parainfluenza and dehydration, that the children’s hospital had diagnosed right; the only thing they had diagnosed correctly. The doctors who made the additional diagnoses also testified for us in court.
Not only was Dr. Holick a God-send in explaining why our bodies were so different, after years of being able to bend differently and suffering from a variety of ailments, but we were given the answers we needed to keep our family intact. Dr. Holick, and three other doctors, testified on our behalf in family court. His diagnoses guided us out of the nightmare that was three years long. We finally had answers! Our experience with this man, his co-researchers/co-workers, his referrals, and his clinic was nothing short of incredible. Our family knows now, through a large medical file, how to better understand our bodies. But most importantly, we are together. We just purchased our dream home, our life is back to normal, and we are so incredibly happy. None of this would have been possible without him.