Hi! I’m Miriel. I live in the Midwest with my husband John, our son Gregory (3) and our daughter Rosemarie (1.5). John is completing his training as a hematologist/oncologist and I’m writing my dissertation in constitutional law. We live a chaotic, happy life and the only thing that could make it better is a little bit more sleep. I’m so happy to be here to talk about our experiences as a special needs family!
Miggy: Welcome Miriel! First thanks for coming back. Some readers might recognize your story as one of the finalists from the Alaska Air giveaway. Obviously we loved your essay and I’m excited to dive a little deeper into your story today. First, can you take me back to the day you knew your daughter, Rosemarie, would have special needs? Was this before birth, shortly after birth or sometime after that? Do you remember how you felt? Can you compare those first thoughts and feelings with how you feel now?
Miriel: We first learned definitively that Rosemarie would have special needs when she was about ten weeks old. My husband, who is a physician, had noticed a slight bend in her lower left leg. It was so subtle that I didn’t think it was a big deal, but her pediatrician referred us to orthopedics just in case. I was expecting, worst-case scenario, evidence of a slight tibial bow. What we actually saw on the x-ray–a significant bow in the tibia with a spot that looked like someone had taken a bite out of it–was shocking and confusing. The orthopedist wanted to take her films to the department conference to consult with other surgeons about it, and it wasn’t until about a week later that we received the official diagnosis of congenital pseudarthrosis of the tibia (CPT). CPT is closely linked with a genetic condition called neurofibromatosis type 1 (NF1), and within another month or so Rosemarie underwent genetic testing that also confirmed a diagnosis of NF1.
For a long time, I actually felt very foolish about how lightly I took the news of Rosie’s initial diagnosis. I had never heard of CPT before, and I just assumed that if her leg was bent somehow, the surgeons would be able to fix it. It took months for the full impact of her diagnoses to sink in. And, as I mentioned in my earlier essay, the more studies I read, the more distressed I became. I also focused a lot more on her NF1 diagnosis initially–which isn’t unreasonable, since it’s a systemic and progressive condition–but in retrospect her CPT has had a much larger impact on our day-to-day life in the intervening months than the NF1 has so far. Overall, I am gradually more at peace with the reality of Rosemarie’s special needs as I learn more about who she is and watch her live a happy life exactly as she is.
Miggy: Will you please educate us on Rosemarie’s condition and explain how her needs affect your day-to-day life?
Miriel: As I mentioned above, Rosemarie has two conditions: congenital pseudarthrosis of the tibia (CPT) and neurofibromatosis type 1 (NF1). NF1 is a genetic condition with a broad possible range of manifestations that occurs in about 1 in 3000 births. Its primary characteristic is the formation of benign nerve sheath tumors, called neurofibromas, but it can also cause the development of malignant peripheral nerve sheath tumors, benign or malignant brain tumors, and tumors on the optic nerve that can cause blindness. People with NF1 are at a higher risk than members of the general population to develop scoliosis, learning disabilities, hypertension, and many kinds of cancer, including breast cancer. NF1 is progressive and unpredictable, so we don’t know yet how severely Rosemarie’s NF1 will manifest. Right now its primary effects on her daily life involve eating difficulties; NF1 is linked with muscular atony (general low muscle tone) and Rosie has a harder time eating solid foods than her peers. We have done a lot of occupational therapy to help her with eating, but getting her enough nutrition for her to grow properly remains a challenge.
Her second condition, CPT, is linked with NF1 (about half of all people with CPT also have NF1), though the mechanism of their linkage is not well understood. CPT is exceedingly rare, occurring once in every 250,000 to 300,000 births (about 20 cases a year in the US), and research on how best to treat it is fairly sparse. Pseudarthrosis translates from the Greek to mean “false joint” and it refers to a corrupted point in the affected bone. Some people with CPT are born with their bone already fractured, some never fracture, and many (like Rosie) fracture at some point in their early childhood. The characteristic quality of a bone with pseudarthrosis is that the fracture will basically never spontaneously heal. The most common surgical repair technique at this point involves placing a metal rod through the affected bone, grafting in bone from elsewhere in the patient’s body, and using a biologic material called bone morphogenic protein to try to encourage the bone to heal. This approach is moderately successful, but some patients’ bones never heal, and the bone is always prone to refracture. People with CPT who also have NF1 have statistically worse outcomes than CPT patients without NF1. I should add, because I get this question often, that pseudarthrosis generally only affects one bone in the body; all of Rosemarie’s other bones (with the exception of her left fibula, which gradually bowed because of lack of support from the tibia) are healthy and strong.
Rosemarie’s tibia fractured spontaneously when she was only five months old, and she wore a full leg cast for the first ten weeks post-fracture before transitioning to a brace to protect her lower leg. We made a plan with one of the national experts in CPT treatment to attempt a repair surgery, but we had to wait for her to get bigger first, because at the time of her fracture, her bone was too small to fit a pin into. And as she slowly grew, her fracture continued to worsen and both her tibia and fibula continued to bow. As the months went by, it became apparent that her case of CPT was quite severe, and our research showed that patients with Rosemarie’s profile (children with NF1 who fracture before age 2) have the worst outcomes. We had decided fairly early on that we were not willing to subject Rosie to countless surgeries to save her limb–some CPT patients take this path and have dozens of surgeries over their lifetimes, but we knew that was not right for our family–so we were faced with the decision of attempting a repair that had essentially zero chance of being a permanent solution and amputating at some later point, or choosing amputation as the first line of surgical treatment. After a lot of research, thought, and prayer, we decided to amputate, and Rosemarie underwent a below-knee amputation on her left leg in November of 2017. She’s now eleven weeks post-op and in weekly physical therapy to learn how to use her prosthesis!
Miggy: What are the biggest worries you face for your Rosemarie? On the flip side, what are your hopes and dreams for her?
Miriel: You know, it’s funny, my greatest fear for Rosemarie has evolved significantly since we first received her CPT diagnosis. I remember at one point that my greatest fear related to the CPT was amputation. I remember so clearly a moment when all I wanted for her was to be able to walk on her own leg–a desire that was never realized. But over time, I realized that the real worst-case scenario her CPT could bring us was not amputation; it was the life of reduced function, increased pain, and limitations that would result if we allowed our resistance to amputation to push us down the path of countless surgeries. At one point, I asked myself what I would choose for her if I were not afraid, and the choice became so clear. And now that we are on the other side of surgery, with her making steady progress toward walking independently, I don’t really have a lot of fears around Rosie’s CPT. She is a firecracker and I can easily envision her living an active, happy life free of the limits that were imposed by the leg bone she was born with.
The NF1 is a little trickier. Honestly, my greatest fear regarding Rosie’s NF1 is that it will shorten her life. She has a much higher risk than the typical girl does of a cancer diagnosis in her lifetime, and when people with NF1 do get cancer, it tends to be fatal at much higher rates than in the general population. But short of that, I worry about kids teasing her about the visible differences her NF1 has already caused or may cause in the future (it can be severely disfiguring in some cases), or about how she might feel about her body given those differences. It’s hard enough to be a girl or woman in this culture with the pressure and unrealistic expectations society projects onto all of us; I worry that the dark spots on her abdomen or the visible tumors she will likely develop will cause her to question her worth. One of my most fervent hopes as her mother is that I can raise her (and her brother) to have a strong sense of her inherent dignity and value, and to see that same dignity in the people around her. I dream and truly believe that she will live a love-filled life, in which she feels herself to be known and appreciated for exactly who she is.
Miggy:Now for a lighter question, I’m a big believer in seeing the humor in life and learning to laugh, so have you ever had any funny conversations/moments you never imagined due to your special needs situations?
Miriel: Two situations immediately spring to mind. The first is a conversation I had with my husband John shortly before Rosie’s surgery. It was early autumn, and we were talking about getting her some footie pajamas that might keep her warmer than the shorty PJs she’d been wearing all summer. I wondered aloud whether it might be sort of morbid or upsetting to put her in footie pajamas after she no longer had both of her feet, and John responded: “well, we could always move the foot flap up on her left leg!” He of course meant just cutting off the lower part of the pajama leg and sewing across the opening, but for some reason the way he said it made me think he wanted to cut the foot part of the pajama off, MOVE IT UP to the end of her residual limb, and re-sew it on there. This mental image never fails to make us laugh and it’s become a recurring joke in our family. (For the record, Rosie sleeps in regular, un-altered footie pajamas pretty much every day now and it’s totally not a big deal).
The second story is pretty spectacular, and if you wrote it into a movie script, the director would tell you to take it out because it was too on-the-nose. I PROMISE THIS ACTUALLY HAPPENED: The day that Rosemarie got to bring home her prosthesis, I picked her up from daycare to drive her to the prosthetist. Everyone at her daycare has been amazing with all of her special needs, and the staff was all very excited to see her be able to stand on her prosthesis. After the appointment, I temporarily left her pants off (she was wearing a dress and leggings that day) so everyone would be able to see the awesome flower pattern that’s laminated into the prosthesis. At one point during the 15-minute drive from the prosthetist back to daycare, I had a passing feeling that I had heard the sound of velcro, but didn’t put much thought into it. When I unbuckled Rosie from her carseat to take her inside, I thought “huh, that looks a little strange” but just figured, hey, it’s her first day, we’re all getting used to it! I carried her inside, enthusiastically declared “LOOK AT ROSIE’S NEW LEG!!” to the front office staff, and spun her around–at which point her prosthesis came FLYING off her leg and landed on the floor fifteen feet away. Oops. It’s a good thing there weren’t any babies around, because that thing is heavy!
Miggy: I know the challenges that come from having a child with very visible differences–they never really fly under the radar out in the world. Therefore, how can people best approach or respond to your child? Is there something you wish other people knew so as to avoid awkward or hurtful situations?
Miriel: I have thought a lot about this, because before Rosie’s surgery, she often used a mobility aid called a pacer to help her move around upright, and people had a lot of questions about it. We also got a lot of stares and questions when she was in the full leg cast she wore immediately after her fracture; there’s no obvious explanation for a six-month-old being in a cast the way that people would assume a school-aged kid just had a sports injury. Even at that young age, but especially as she got older and was able to understand more of what people were saying, I have always been sensitive to the way people ask questions about Rosemarie. One time, shortly after Rosie’s amputation, a woman in a waiting room asked me “was she born like that?” and I just wanted to say: “SHE CAN HEAR YOU.” It is really important to me that Rosie understands that she is a person, not a spectacle, and that she deserves to be treated with respect.
At the same time, I tend to take the view that the best way to normalize differences (because they are normal! there is a vast range of ways to have a human appearance and to move your body around!) is not to pretend they don’t exist, but to acknowledge them in a way that frames them positively. When kids in our neighborhood have asked questions about Rosie’s mobility aid or about what happened to her leg, I try to explain in a simple, clear way that emphasizes that her pacer and her prosthesis are the ways that she moves around (emphasizing the enabling aspect of the devices rather than describing them as deficiencies or handicaps). I hope that parents whose kids have questions will take a similar approach, and also take the time to talk about differences with their kids in non-acute contexts. Don’t wait until your children notice differences out in the world to teach them that people are going to look, talk, and move in lots of different ways! I also welcome questions from children–who are naturally curious, accepting, and easy learners–more than from adults, who (in my experience) tend to just come off as nosy. But in the moment, if parents answer questions in a positive way rather than shushing their child, they can teach that differences are normal rather than giving the impression that having a prosthetic leg is something shameful that their children should pretend isn’t real.
Miggy: If you could say something to the mom who just starting on this journey of special needs, what would you say? What would you say to yourself if you could go back in time?
Miriel: Despite the life-altering events of the past few months, we are still very much at the beginning of our journey as a special needs family, so I don’t feel super qualified to give advice, but I can speak from my experience to say this. To the parent who is just starting out on the special needs journey: if you feel completely overwhelmed and you’re worried you can’t do this? You’re not alone. It’s okay to feel that way. You CAN do this. Over time you will come to understand your own strength and the strength of the bond between you and your child in ways that you never would’ve imagined. But right now it’s okay if you feel like you can’t. Our society is so focused on doing pregnancy and parenthood “right” that there’s not a lot of discussion about how to cope with situations that can feel, at first, utterly wrong. It’s okay to be afraid. It’s even okay to be angry. And when you find yourself feeling overwhelmed, turn your attention away from the medical journals and internet research for a while and focus on loving your child. In my experience, that is the key to keeping some kind of perspective. Also, if it’s available to you: get a therapist! Even if you’re not in crisis at this moment, having a regular source of support and catharsis can be invaluable through the ups and downs of special needs parenting.
Miggy: What is the biggest lesson you’ve learned since becoming Rosemarie’s mom?
Miriel: I teared up when I read this question, because in many ways I feel like a completely different person now from the one I was twenty-one months ago. I have done a lot of reading about disability advocacy since Rosie’s diagnoses, and I continue to seek out the perspectives and voices of adults with disabilities as we move forward. But the thing that jumps out at me more than anything else is about Rosemarie’s personality, her Rosie-ness. That absolutely encompasses and includes her special needs, but it is not defined or limited by them. I have gotten to know my daughter as a human person, and she has taught me about perseverance and laughter and joy because of who she is, in the perfection of herself exactly as she is. And as she grows, and we have more time with her, I can’t wait to learn more.
Every week, I look forward to reading your spotlights. I have learned so much. for some reason, reading Rosemarie's story and Miriel's words really hit home today. I think it was this part of a sentence in the section on fears "will likely develop will cause her to question her worth."… Question her worth…Wow. So profound. Thank you for your spotlights. I feel very moved today after reading Rosie's story. Many hugs. Thank you again.