Living Spinefully

Hi Friends,

First of all, Happy Scoliosis Awareness Month!!! This has always felt a little extra special to me, since June is also my birth month :). I recognize that I haven’t written in over 7 months at this point, and while some of that has been intentional to allow myself time and space to process, some of that has been an accidental result of busy and fun things filling my life. Compared to last year, I’ve been significantly less engaged in Scoliosis Awareness, but I wanted to make sure I at least got on here and got a post in before the end of June.

In the theme of awareness, I wanted to share with you all some information about congenital scoliosis, my specific flavor, as well as VACTERL association, the context in which my spine developed. A lot of scoliosis awareness, social media posts, and information available is specific to idiopathic scoliosis, which makes sense as it makes up an estimated 80% of scoliosis cases. But congenital scoliosis is a thing too, and although there is a lot of overlap with idiopathic in terms of treatment and experiences, there are some differences too. Congenital scoliosis (meaning it is present at birth) comprises 10-15% of all scoliosis cases, and effects an estimated 1 out of 10,000 live births. My scoliosis was diagnosed during an prenatal ultrasound, in which my parents were informed that there were multiple semi-fused and incompletely-formed vertebrae, causing not only scoliosis (side to side curvature) but kyphosis (front to back curvature) as well. They knew that eventually, I would need surgery, as the curves would progress as I grew based on the structure of the bones. For this reason, I was never braced pre-surgery, as a brace wasn’t going to change the shape of my bones. I also have never known a time when I wasn’t aware that I had scoliosis – unlike those with idiopathic, I never had that traumatic doctor’s visit of being diagnosed, it was something I was brought up knowing.

In addition to being diagnosed with congenital scoliosis at that fateful pre-natal ultra sound, it was also observed that I only had one kidney, instead of two. As an adult, it has been further clarified that I technically have a little clump of cysts in the spot where my right kidney should be, that might be a tiny-nubbin under-developed kidney, but regardless, only one of them works. At birth, it was observed that there was only one artery in my umbilical cord, instead of two, and I was also breach. It wasn’t until I was referred to a geneticist by my pediatrician at approximately 1 year old that my parents were informed that all these conditions were related in an association called VATER (later renamed VACTERL). VACTERL association is basically a semi-random ocurrence of problems in different body systems that develop during the same stage of pre-natal development, and thus tend to have co-occurring malformations. Each letter of VACTERL stands for a different system that can be affected. V-vertebral, A-anal atresia, C-cardiac, TE-tracheal/esophageal, R-renal, and L- limb deformity. A single umbilical cord artery was later added as an additional diagnosing feature. VACTERL association is estimated to occur in 1/10,000 – 40,000 births, and a person must have 3 of the letters to be diagnosed. I have the V (vertebral), R (renal), and the single umbilical artery. The presentation and prognosis of people diagnosed with VACTERL association is therefore highly individualized, with each person having a different combination of letters. I am part of a facebook group of adults with VACTERL association and some, like me, have been able to live relatively healthy, unaffected lives, while others had to undergo multiple surgeries during the first days of life and are more severely impacted.

Where the awareness comes in – often, I have noticed, that norms, information, physical therapy training, etc. are applied for idiopathic scoliosis, with minimal consideration for how this could impact those with congenital scoliosis. Not a lot is known about VACTERL as a condition and I’ve had to educate my own health care providers on it in the past. The treatment for VACTERL tends to be rather piece-meal based on the systems affected, without a lot of comprehensive understanding of how the multiple systems affect each other. For example, when I tried to talk to my OBGYN about my condition and a future potential pregnancy, she was very dismissive of my concerns, stating simply that “women with scoliosis are capable of having normal pregnancies” without hearing anything about my levels of fusion or my kidney anomaly. A urologist insisted that I had two healthy, normal kidneys based on a typo in one medical note and initially refused to hear me based on medical information I had been told and had confirmed throughout my entire life. She also told me that VACTERL had no impact on someone’s reproductive system, which contradicted countless peer-reviewed articles that I had read, as well as the opinion of other health care providers I had spoken with. I came away from that appointment crying and frustrated, knowing that I had tried my best to be my own medical advocate and feeling like my concerns were going un-heard.

After significant advocacy, and proof from medical records dating back to 1998, I got my urologist to order a CT scan. I got the results via MyChart message in December, without any information from my provider. The results confirmed my solitary functioning kidney, but also diagnosed another previously unknown, though also VACTERL related, abnormality: I have a unicornuate uterus. A unicornuate uterus (UU) occurs when only half of the uterus, fallopian tube, and/or ovary (or some combination of those) develops prenatally. Without any information given by my doctor on what that could mean, I began frantically searching the internet for information. Contrary to my urologist’s uninformed statement, UUs are very common among people with single kidneys. Research suggests that due to the reduced size and blood flow to the uterus, pregnancies with UU are associated with increased risks of infertility, ectopic pregnancies, second trimester miscarriages, pre-term births, C-sections, and stillbirths. Reading this information made me sick to my stomache, and desperate for answers. For months, I scoured the internet incessantly, trying for key search terms of “Unicornuate uterus and congenital scoliosis and spinal fusion to pelvis, and single functioning kidney and pregnancy,” frustrated with the unsurprisingly non-comprehensive results. It was easy to get pulled down rabbit holes, finding myself worried about high blood pressure, kidney disease, cervical cancer, PCOS, the cost of infertility treatments, and other conditions that had little to do with my known diagnoses. I began to research adoption, getting concerned about the trials and ethics of public vs private adoption, and fretting that every option I considered would come with significant financial, ethical, and emotional upheaval. All of this, without any plans to get pregnant or start a family for probably another 4-5 years. I knew I was grieving. I knew it felt like one more thing my “deformed” body had taken from me. Seeing babies in public and pregnancy announcements on facebook would send me into spirals of stress and sadness, and honestly still do. Without even talking to a doctor, I began to assume and identify as infertile.

With support and guidance, I began to recognize I was creating more suffering for myself by “pre-grieving” things that were uncertainties, as well as things destined for a stage in my life I’m not in yet. Although it made sense to grieve this news, in some ways, I was taking from tomorrow’s grief, which reduced my ability to celebrate the present moment. Furthermore, I was accepting internet statistics, well-researched may they be, without talking to a doctor about my specific situation. There was a seemingly infinite number of possible complications, conditions, symptoms, etc that offered the false promise that if only I found them, I would be better prepared and better able to make an informed decision about whether or not to chance a pregnancy. And while that’s potentially true, no research, doctor’s opinion, or facebook group post is going to be able to look into a crystal ball and determine what exactly will happen. I can be informed as I can be, and yet will still encounter risk.

I did reach out to a maternal and fetal medicine doctor and had a consultation about what a pregnancy could look like for me. And it’s definitely a decision that I will have to make in the future. But all of it made me think a little more broadly about my relationship with health information, and the ways that I access it. In some ways, I am so glad that the internet was in a much more primitive stage in 2008 when I had my first surgery, as my 11-year-old self would surely have gotten completely overwhelmed by irreputable sources, extreme statistics based on faulty research, and opinion-based blogs. I wonder how many young people today are in that place today. But I also wonder, if I or my parents had been more informed, if my scoliosis-saga would have played out any differently. The ability to trust that my body is healthy enough to do the things that it does today, accepting that it will inform me of problems as they emerge, is an ongoing struggle, especially since my second surgery when my body seemed to give out on me without warning. But it’s one that’s worth pursuing.

So where’s the balance between awareness and the empowerment that comes with information, and the non-stop loop of anxiety-fueled internet scrolling? To be honest, I’m still figuring it out. For me personally, I think the rough line falls around what is currently a problem, and what is a hypothetical problem of the future. When my research is present-focused, I stay empowered, with decisions that I can make today – physical therapy exercises that I can do, ways that I can strengthen my mind and body, and improving my understanding of my condition. When I start to wander into things that I am “at risk” for in the future, or experiences that I “might have” based on my spine, kidney, uterus, etc., I cross into the zone of worrying about things that are not yet my reality, that I am often powerless to confront. Of course, I want to set myself up for success and do the best that I can. But sometimes reading about things that may be my future, but also may not be, is hard.

All that to say, yes – I want to promote awareness of scoliosis. For medical providers, patients, parents, friends, and general society, I want people to be more understanding and considerate of this disease, especially how it can co-occur with other symptoms. But when it comes to my own awareness, I often need to remind myself to do what I am capable of doing now – trusting that I will have the resources and support that I need if and when later problems arise. And reminding myself to be aware of the beauty of my life right now – my friends, my family, my amazing boyfriend, my upcoming trips, and what my body can do, right now.