Initial Outreach
Date: July 1, 2019
Subject: The Kylie Family
Good Morning,
My name is Kylie.. We have three beautiful children and our newest addition Fynn, age 5.5 months old. He is the main reason we are emailing you, desperate for help. I need to give you so much background information on us and our family to help you, but for now I will tell you what is going on.
I took Fynn to A.I. Dupont in Wilmington, Delaware when he was 8 weeks of age {March 13th}. He was post-frenulectomy after presenting fussiness, unwillingness to eat and spots on his body. He was born at 10 lbs 6oz at 37 weeks gestation due to my type 1 diabetes. He was in the NICU for ten days trying to stabilize his sugars, so even several weeks after… I worried about his sugars from now eats enough. It turned out he had para influenza, but to ensure his health was top notch the doctors asked to do xrays and ultrasound. I absolutely agreed, because I’m his mom and wanted to make sure nothing more was going on.
March 13th was the darkest day of my life. On my new little 8 week old baby, they found 6 healing fractured ribs, that are postolateral in location. SIX. How does this even happen? We asked. A resounding “N-A-T” diagnoses was made, despite the fact that they were able to date one to birth “possibly”. They also found a 4mm extra axial hemorrhage on my son’s high right partial region. Again, the diagnoses was “blunt force trauma.” We had him examined thoroughly, including retinal specialists, a 3 hour full body xray including a cat scan, etc. There were no other injuries except the 4mm bleed. Nothing. AND leading up until that point, we had a doctor or nurse with their hands on him almost every single week from the day he came home from the NICU. Dupont insisted the fractures were in multiple stages of healing and that our son was a very abused little boy. Problem is… that is the furthest thing from the truth. Our son has never experienced an ounce of pain in our arms. NEVER. We also have no previous involvement with the police, no history with CPS, no history of drug or alcohol abuse, no violence history and I am a professional portrait photographer of ten years who specializes in newborns and small children. We are literally a normal middle class family loving our children, and for us to be indicated for something like this is devastating. Even worse, my mother has worked for Social Services as an In Home Social Worker for 23 years.The police are still investigating, but I’m worried they are going to further injure our family for something my husband and I did not do.
So we took him to CHOP for a 2nd opinion. They concluded that his fractures appeared to be in a similar stage of healing, and appear to be acute to subacute. Completely different than what Dupont was saying. While visiting a 2nd time, this instance at the Metabolic Bone dept {Dr. Edna Mancilla’s office}, they took blood to HOPEFULLY get us a T1 Osteogenesis Imperfecta diagnoses.
My main issue is that no one around hear acknowledges that Vitamin D Deficiency Rickets is a real thing. They said it’s no real and made up? How can this be when so many people have found this to be the problem with their child? My mother’s side is all Vitamin D deficient. I am severely low at times. I found some blood work from 2013 while going through infertility that my Vitamin D was 21 on a range reference of 30 – 100 ng/ml. My mother does not make enamel on her teeth. She also has to take Vitamin D supplements. Her mom is also deficient. Everyone is failing to recognize that this is a real problem and it HAS to be the reason for my son’s fractured ribs. So I researched and found a story about a mom similar to our story, who Dr. Holick helped.
We need this same help. And I’d beg for it at this point. My heart is so broken and we have no answers for CPS or the police. We are ready to purchase a plane ticket from Maryland to you at the drop of a hat if you could get us in when Dr. Holick comes back. We are begging for your help to keep our family together and to make sure Fynn has the answers that he deserves more than anything.
Thank you so so much for reading. You can reach myself at the number below my signature <3 I cannot wait to hear back from you all.
Kylie
Dr. Holick’s Evaluation
I saw Kylie, her husband, 3 children and her mother in my Ehlers Danlos Clinical Research Program. Based on the medical histories and physical exam findings I concluded that both Kylie and her mother had Ehlers Danlos syndrome hypermobility. An evaluation of Flynn demonstrated that he had frontal bossing blue sclerae, doughy textured skin with increased elasticity and marked joint hypermobility. He also had a history of flushing without provocation and bruises easily. I concluded that Flynn likely acquired the autosomal dominant genetic disorder, Ehlers Danlos syndrome hypermobility type, from his mother. This helped explain his joint clicking, easy bruisability and flushing without provocation due to mast cell hypersensitivity. This genetic disorder is well documented to cause skeletal fragility. I explained in my expert report that the 6 rib fractures that were observed in Flynn were likely caused by his skeletal fragility associated with Ehlers Danlos syndrome hypermobility type and resulted from normal handling. I found no evidence in the medical record for fractures being caused by nonaccidental trauma. I provided an expert report explaining my findings. Thankfully, as you will read in the letter from Kylie, she and her husband were successful in having their children returned to them.
Follow-up from Kylie
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.
