“I’ve never before felt like I could be proud of my body, my disability…until now. This project is liberating.”
Sometimes, having a disability feels like holding, in the palm of my hand, a grenade without its clip. It’ll explode someday, but it’s unknown how devastating the damages will be to not only me, but also to those around me, the dedicated, loving fools who stick around to care for me. The explosion can take different forms and that, too, is unknown: BOOM! I cannot ambulate anymore; POW! More operations, urgent and immediate; CRASH! Another diagnosis, more medications, more technology, more money money money. It’s not so much depressing as it is exciting, though I’d say the daily feelings around this special kind of disability are more accurately a 60-40 mixture of the two. Whether depression or excitement is the 60 or 40 is really up to the attitude of the disability owner and the day. Whereas most people face their unknown future health with a big “if”, I – and many like me – lucked out with a “when”. Such is the case with Patty, a young, gregarious, impassioned, recent college graduate with an enormous smile that warms away any of the chilly disability foreboding. Like me, Patty is the owner of a special sub-set of disabilities, the kind that 95% of physicians have never heard of; the kind that 100% of people, upon hearing the full syndrome name, screw up their faces in confusion-slash-disgust; the kind that isn’t considered profitable enough to research further; the kind that has a fancy acronym to make it easier to say, but no easier to understand; and the kind that immediately gives the false impression that she’s high-maintenance or a hypochondriac or both, because, otherwise, Patty is a vision of health, youth, and beauty. “People often say to me, ‘You’re too young to have this many health problems,’” she says, leaving her to do little more than shrug in agreement and accept their doubt. Patty has Branchiootorenal (BOR)* Syndrome, which is shorthand for She-Has-A-Ton-of-Shiz-Going-On. Let me break it down for you:
- BOR is a genetic condition that typically disrupts the development of tissues in the neck and causes malformations in the ears and kidneys.
- Patty has three kidneys, and while this usually prompts excitement in people who hear tell, no, she cannot hold her alcohol better than the average person and, no, she cannot donate one of the kidneys. She needs all three as they are each smaller and not as functional as an average kidney. For example, she’s maintained a low-sodium diet her entire life because her kidneys are unable to process the sodium, and when she was 7 or 8, she went into acute renal failure because she had a really bad case of the flu.
- She has congenital scoliosis, which, unlike the more common idiopathic scoliosis, can only be corrected with major surgery. After one of her pediatricians told her she just had idiopathic scoliosis and that it wasn’t a big deal, her mother sought a second opinion. Turns out she had 5 malformed vertebrae, a 55 degree curve in her spine, and needed emergency surgery because the spinal curvature had not only collapsed one of her lungs but was also putting pressure on her heart. At 13 years old, “I had to write an Advanced Directive and a will and was flown to Boston,” she tells me, where one of a handful of physicians who could operate on such a severe case would treat her. For the record, she willed all of her Manga comic books to her best friend. What else is a 13-year-old to do?
- She still suffers from chronic back pain. She shares an anecdote with me that is all too familiar: “People make so many assumptions about me. Two or three years ago, I was having one of those shitty days. My back hurt, my whole body hurt…I sat down next to this really nice, eldery man in the disabled section on the bus – I feel like I belong in that section, I need it. So me and this man strike up a conversation and he tells me about himself and I tell him about myself and we talk about our health and abilities….and this woman, not even in her 50s, confronts me and tells me to get up. She seems combative and clearly wants to sit down. And I’m like, ‘Why do you need to sit down over me?’ ‘Because I’m older than you,’ the lady said.” Luckily, the elderly gentleman with whom Patty had been chatting came to her rescue and explained to the woman that the disabled section was not a matter of age, but one of ability and necessity. Only then did the woman retreat and quietly allow Patty to rest her aching back in a seat. Years later and that confrontation still riles her. “A lot of people make assumptions just based on how I look. Disabilities aren’t always visible, you know.”
- BOR is autosomal dominant, meaning that only one copy of the altered gene in each cell is enough to cause the syndrome in that person. Translation for all you non-geneticists: if one of your parents have it, very high likelihood you’ll have it, too. In fact, in about 90% of cases, an affected person inherits the mutation from one affected parent**. Patty’s father has hearing loss and her aunt suffers from kidney complications, though no one realized their issues may have been a larger syndrome that simply manifested mildly in their bodies. Patty explains, “I have the kitchen sink version. Everything that could go wrong with me, went wrong. My (official) diagnosis (unofficially) diagnosed everybody else in the family.”
- Patty is also Deaf, though some might consider her Hard of Hearing because she is able to hear somewhat with the help of hearing aids. For several years while in middle school and high school she attended a Deaf summer camp in Canada. While there, all the campers would remove their devices if they had any and “just celebrate who [they] were with people just like us”.
So, clearly, Patty and her disability are “many splendored”. But to complicate things further, Patty holds several of those grenades I mentioned earlier. For example, her hearing loss is progressive, and she often finds herself wondering if it’ll ever stop, if she’ll be so deaf that her hearing aids can no longer help her and she’ll need to brush up on her ASL knowledge. Also, many BOR sufferers develop End-Stage Renal Disease (ESRD) and, yes, it is as bad as it sounds. And because it is highly likely that her children, if she ever chooses to have them, will also inherit BOR as she did, a sense of maternal guilt looms over her already. But because her doctors know so little about BOR, they’re unable to give her a prognosis, so she prepares for the worst and hopes for the best, an act of faith to which most people with disabilities can relate.
On so many levels did Patty’s experience resonate with me and her life trajectory seem to parallel mine. We both have obscure syndromes that bring with them so much of the unknown, a sense that we are the lab rats paving a precarious way to health for others, the feeling that we’ll be written about in medical texts, not warmly or of who we were in life, but as patients, anomalies. I feared, too, once upon a time B.C. (before children) that I’d pass my wonky genes on to my kids who I would watch, as my mother did me, writhe in pain for years, be handed diagnosis after diagnosis, only to eventually stand by as their limbs were amputated as their best case scenario. I shared with her my husband’s and my adventures in genetic counseling that yielded very few answers and the final decision to have children, their health and my survival a big, big question mark. That neither of my daughters has my syndrome (though they did get plenty of my wonky genes) and I, clearly, survived pregnancy, labor, and delivery, seemed to give Patty hope that she, too, could have a family of her own someday. Of course, she’s well aware that our bodies and our syndromes are so very different, but I imagine that it’s refreshing to hear of a happy ending from somebody like me, disabled, scared, yet optimistic. So many of us take for granted what people with disabilities dare to hope for.
But I relate to Patty in another, more meaningful (to me) way: we both come from biracial, or more specifically, Asian-Caucasian families. It’s not out of the ordinary to smell our own Hapa kind here in the San Francisco Bay Area, but to find a Hapa sister who also has a ton of weird disability baggage, now that’s special. We spoke at length about the Asian cultural struggle around disabilities, and how differently our respective Asian parents and Caucasian parents reacted to each diagnosis and how each treated us in times of sickness and in times of health. I’ve found, for example, that many Asian communities, both here in the States and abroad, regard disabilities with shame, regret, and disappointment. That’s not to say that the person with a disability is a disappointment, but rather the affliction is bad luck that befalls the entire family. While most Asian families will dutifully care for the person with a disability who is usually limited to the confines of his/her home because of culture and perhaps superstition and not the disability itself, rarely is the disability ever spoken of either in private or in public. However, in the States we have Disability Pride Parades, Abilities Expos, and National Persons with a Disability Day; we celebrate the day ADA laws were signed, we have organizations and centers and special gyms; as imperfect and incomplete as they are, reasonable accommodations and laws to enforce them are relatively easy to come by; it is not uncommon to see Americans wear their illnesses and the suffering they’ve endured as badges of honor. But the months I traveled throughout and lived in Vietnam and my trips to Hong Kong and rural China yielded a very different atmosphere around people with disabilities. I am not saying the Chinese and Vietnamese aren’t loving, compassionate, caring people, but the palpable sadness around disabilities follows Asian émigrés to their new countries and through generations. Patty tells me that her Chinese father, who was a Stay-At-Home-Dad while she was an infant, was seldom present, if at all, during her hospital visits, illnesses, and recoveries. On the rare occasion that her syndrome came up in conversation amongst the Asian side of her family, it was very quickly stifled, fanned away like an unlucky stink in the air. Her aunt, a woman with an impressive fan base and social media following, though I’m not at liberty to reveal more, is very benevolent and participatory in The National Kidney Association, though, according to Patty, hasn’t yet shared with her audience her own kidney issues, most likely because of the tightlipped nature of their culture around disability and illness***. On the other hand, though, is Patty’s mother who is described to me as remarkable, strong, beautiful, and the biggest advocate and cheerleader Patty has ever had. Rather than secretly deal with Patty’s syndrome, she – in typical American fashion – didn’t hesitate to share the story or to fight until Patty received the proper care and attention from doctors and educators alike. When Patty was teased by her peers or felt hurt by teachers who said she would never amount to much and should be put into special needs classes, it was her mother who was both her safe haven and the angry mama bear who would march with her to school the next day demanding equality. “People were terrified of her,” Patty says of her Super Mom. And most importantly, through all of Patty’s operations and hospitalizations, her mother remained a beacon of hope and positivity with her bravest face on so that Patty would have no fear. “If she wasn’t scared, I felt like I didn’t have to be either.”
What’s most obvious in Patty is her ability to roll with the punches. Perhaps it’s her mother’s influence or Patty’s unique cultural upbringing or the fact that having such a strange and rare syndrome is really laughable sometimes. But whatever it is, Patty is a delight, one I think we can all learn from. A couple days after our interview and portrait session, Patty sent me the loveliest text. It arrived on a day, in a moment, when I was feeling physically “meh” myself and was just the reminder I – we all – need: “I have been in the most ridiculous amount of pain today than I have been in a long time,” she wrote. “Walking hurts, sitting hurts, laying down hurts, even breathing and laughing hurt! Being a part of this [project] reminds me that the laughter is the best part, though, painful or not. Silliness is always the way to go! Tomorrow is a new day. Hopefully that one won’t hurt quite so much. ;)”
*Patty explains, “The first doctor I ever encountered who knew anything about BOR was the last pediatrician I had… She said [BOR] was something unique she learned in a textbook and remembered it because it was so weird. She said it was such a rare thing she just remembered it for the rest of her life.”
***To be fair, though, Patty is quick to tell me that her aunt was especially supportive in other respects. An unwillingness or inability to speak of disability issues does not equate a bad, neglectful person at all.