National Organization for Rare Disorders

@nord | partner
Every day in America, 30 million people wake up to fight the battle with a rare disease.  
Meghan Bayer

Why I Travel 600 Miles to Seek Help for Stiff Person Syndrome

They say, “the journey of a thousand miles begins with a single step.” Well, I didn’t know that when I received my first and only dose of the original Gardasil HPV vaccine at just 16 years old on August 24, 2012. I, like so many others, was genetically programmed to internally “self-destruct.” My immune system turned on my brain and spinal cord, causing disease in the multiple sclerosis (MS) family. It is called stiff-person syndrome (SPS), and it typically first affects women between the ages of 30 and 60. You have probably never heard of it, and if you have, you have probably never seen the aggressive, pediatric onset of the disease. I was living in Pittsburgh when the condition started. I had all this access to “world-class medicine,” and yet, this “world-class medicine” is the same medicine that nearly killed me. It would have killed me had it not been for doctors at the Mayo Clinic in Rochester, Minnesota’s genuinely world-class neurological ICU. And yet, in a way, the Mayo Clinic failed me too, as I had gone there originally for my previously undiagnosed pediatric SPS. I was just “too young” to have a “one in a million disease.” One thing was sure. I needed a “one in a million doctor” to treat my “one in a million neuroautoimmune disease.” Over the years, I suffered mercilessly as we traversed all over the country. The Mayo Clinic, the Cleveland Clinic, University Hospitals, the University of Pittsburgh Medical Center, Allegheny Health Network, Rowan University Medical Center… some of these clinics dismissed me as “crazy,” having a “functional neurological disorder (FND),” having anxiety or making it all up for attention. The “craziest” part? The entire time I had elevated glutamic acid decarboxylase 65 (GAD65) not just in my blood, but in my cerebrospinal fluid too! Not too many diagnosed people know or have the antibody in the fluid bathing and surrounding the brain and spinal cord. I also have antibodies against my thyroid, causing Hashimoto’s thyroiditis and against my pancreas, putting me at increased risk for Type 1 diabetes, a common comorbidity of SPS. My autonomic or involuntary nervous system was failing me, and my limbs were contorting in ways you would only expect from the most pain-seeking contortionist in the world. Finally, I found my “one in a million doctor” in the form of a neuroimmunologist at the Johns Hopkins Hospital. He runs the only outpatient SPS center in the world at the time of this publication. He confirmed my diagnosis with simple electromyography (EMG) that showed that I had agonist-antagonist co-contraction, meaning the muscles that moved my limbs back and forth were firing simultaneously, and they were firing continuously. I had already gone through the first-line steroids and most of the muscle relaxers I could possibly be put on. I had been through plasma exchange where two large 18 gauge needles stuck out of the ports in my chest by a solid 1.75-2 inches two to three times a week and “cleaned” my blood of all the “rogue antibodies” out of my body one and a half times. I had suffered through several rounds of intravenous immunoglobin (IVIG) therapy that caused a myriad of painful side effects. It would take some creativity to figure out a game plan for a body and person unable and unwilling to do an experimental FDA trial stem cell transplant. We finally decided to start me on a form of chemotherapy that I receive every six months, high dose medications that I take just about every four hours, and weekly infusions of subcutaneous immunoglobin (SCIG) that I give myself weekly. With this protocol, I am stable. Not healthy and perfect again. Stable. I am thankful for my parents, and I fighting to find this doctor. It is because of him that I don’t have to worry about dying anymore. I can live and thrive! I can fearlessly take on the world because that’s what we were made to do. I know that some 600 miles away, in a place I visit every six months, a doctor won’t stop fighting to give me the best life possible. I have to give my life my best. Even though it is an aggressive and progressive condition, I have hope that someday there will be a more effective treatment to battle my most formidable challenge yet.

Community Voices
Community Voices
Denise Reich

Not Only Elderly and Immunocompromised Will Be Affected by COVID-19

By now, most of us know the worldwide threat of COVID-19, a new strain in the coronavirus family. Information about the virus, new cases and new testing and containment protocols are being released to the public every single day, piling in from sources ranging from the World Health Organization (WHO) to local news channels. While it’s incredible that we have immediate access to COVID-19 updates, there’s one big problem with the way the media has been covering the outbreak. We have reporters, social media influencers and other public figures trying to reassure us that we’re probably going to be fine — well, most of us anyway. All of us except the elderly and immunocompromised. “Don’t worry,” they say. “Wash your hands and carry on,” they advise. “You’re young, it’s not like you’ll die or anything! It’s just the elderly and people with compromised immune systems that will be affected!” As if people in those groups don’t matter. People like me. I have primary immunodeficiency. Hi. I won’t lie, COVID-19 concerns me, just as it concerns my neighbors and friends who have stronger immune systems. Luckily, the infection control procedures recommended to the general public — things like thorough and frequent hand washing, covering one’s mouth when sneezing and cleaning surfaces that are frequently touched — are standard operating procedure for a lot of people like me. I didn’t need to raid my local store for hand sanitizer and bleach wipes because I already have a cupboard full of that stuff. I’m doing my best to remain vigilant, keep my doctors’ appointments and avoid crowds. As of March 4, the Immune Deficiency Foundation’s stance on COVID-19 has been to provide factual information and encourage vigilance without inciting panic. Many other advocacy organizations for patients with respiratory or immune system conditions, such as the British Heart Trust and the American Lung Association have issued similar advice. The WHO and CDC are also quick to give advice and guidance on COVID-19 issues and acknowledge that some populations may be at greater risk without diminishing the fact that COVID-19 is not just an issue for those groups. Unfortunately, it doesn’t seem like a lot of news outlets are following this sound practice. They’re going on about how only “old folks’ homes” and “sick people” will be at risk. When did it become acceptable to comfort the public by reassuring them that “Hey, you’re not the one who might die”? Or to assume that it will all be cool because only “those people over there” will have issues? Aside from the fact that it’s actually not true — being healthy doesn’t grant anyone guaranteed immunity from potential complications — have they considered, even for a second, that those “old folks” and “sick people” are listening, reading or watching too, and don’t deserve to have their lives considered afterthoughts? Instead of shrugging off more medically vulnerable populations, has it ever dawned on any of these pundits to offer some advice to help? You know, like telling people with robust immune systems to be especially careful because they could still pass COVID-19 to an immunocompromised person? Or insisting that public facilities be proactive about ensuring their restrooms are cleaned often and always stocked with soap and working faucets? How about advocating for more sick day coverage and fewer repercussions for workers who need to take time off to avoid spreading COVID-19 or other illnesses? Or reminding people to check on homebound neighbors and relatives? You can reassure the public about COVID-19 without throwing some of the public under the bus. Really, you can. Please make the effort. Concerned about coronavirus? Stay safe using the tips from these articles: Which Face Masks Prevent Against Coronavirus? How to Make Your Own Hand Sanitizer 8 Soaps You Can Use to Help Prevent the Spread of Illness Coronavirus and Chronic Illness: What You Need to Know 10 Face Masks People With Chronic Illness Recommend

Denise Reich

Staying Optimistic With My Incurable Disease Primary Immunodeficiency

“What goes on in there?” I inwardly cringe at the question. I’ve just been picked up by a rideshare outside the cancer center where I see my hematologist. There are a few quirks in my blood counts that she’s keeping an eye on, especially given that primary immunodeficiency tends to elevate one’s risk for certain cancers. I can’t drive, so I’m sometimes transported by rideshares after my appointments. I don’t talk about my primary immunodeficiency or other health issues with them if I can possibly help it. If I’m picked up outside a nondescript professional building, I can get away with not saying anything. When I’m waiting outside a hospital or another obvious medical facility, though, drivers are often curious. I appreciate the concern, but I try to keep my answers short, sweet and vague: “I have a genetic illness and I’ve just had treatment or seen a doctor.” Sometimes that immediately prompts offers of unsolicited advice. I’ve learned a good tactic to handle that: if someone asks you if you’ve tried “natural treatment” and you cheerfully tell them your medication is made from human blood, they shut right up. I’m not lying — I receive intravenous immune globulin (IVIG) and it consists of isolated antibodies from human plasma. What’s harder is when they want to know more. ”What goes on in there?” today’s driver asks, gesturing to the word “clinic” on the front of the building. My mind snaps back to the present and to the question at hand. ”It’s a hematology/oncology clinic,” I reply. “They treat cancers and blood disorders.” ”And you work there, or…” Yep, here we go. “I’m a patient. I don’t have cancer. I have a form of primary immunodeficiency.” ”What do they do for that?” It’s an easy enough answer. “At this clinic, they just keep an eye on me. I go to the hospital for IV infusions every few weeks.” ”How long will you have to do that?” “For the rest of my life.” Nobody likes that reply, but it’s the one I have. IVIG is not a cure. Nor can it do anything to spur my B cells to competence. It temporarily supplies me with the fighters my body can’t produce on its own — strong antibodies. However, that protection fades with time and thus needs to be continually topped up. ”Well, I’m sorry. I hope they find a cure.” I smile slightly. “Thanks, I appreciate that. A cure is probably not going to happen, but I appreciate the thought.” And now he’s annoyed. ”Oh, come on. You have to be optimistic!” There’s a difference between being optimistic and realistic, I try to explain. I am optimistic: I know research into primary immunodeficiency is occurring every day. They’re working on it, and they’re working hard. I have faith that the scientific community may come to understand my type of PI better. I have faith there might be better treatments eventually. Perhaps a viable synthetic form of immune globulin might be developed — one of the roadblocks patients face is that currently, only antibodies from human blood plasma can be used. The supply of immune globulin thus depends on plasma donations. I have faith that many of the doctors who treat PI patients every day will continue to educate, learn and share with each other. My own immunologist’s clinic often hosts physicians from other hospitals who have come to observe. Things can get better, and there’s every reason to think they might. None of that, however, means they’re going to find a cure for my type of PI or my other conditions within my lifetime. This is where I’m realistic. It might be nice, but I can’t expect it. According to the National Institute of Health, there are more than 7,000 rare diseases. Most don’t even have established treatments, much less cures. Even with more common conditions that have been widely studied for decades, such as asthma, we have lots of meds and therapies that might help patients… but no cures. There’s a long way to go. In that light, if you tell me that you’re hoping for a cure for me, I’m likely to shrug it off. I consider the odds of a cure within my lifetime to be roughly the same as the probability that I will design the next exploration mission to Pluto: not particularly reasonable. I can’t speak for anyone else, but it took me a long time to get my head around the word “incurable.” I cycled through the Kübler-Ross stages of grief for quite some time. Denial: these tests must be wrong. This can’t be it. Bargaining: maybe there’s some magic the doctors haven’t considered. Maybe if I go off treatment I’ll be fine. You’ll see! Anger: Oh yes. Grief isn’t linear, so this one still makes frequent appearances. I’m sick, I hurt, and I can’t do everything I used to, and that really pisses me off. Depression. At some point, though, I did reach acceptance: the tests are correct, I really do have this, and this is what I need to do if I would like to remain alive. Acceptance: this is the world I live in now. And along with that acceptance, even with anger dancing around the margins of my mind, I found hope. There are so many things I hope for that, unlike a cure, seem possible. That’s what works for me. I hope for more accessibility for individuals with all sorts of disabilities and illnesses. I hope that nobody will ever have to forego casting a vote, visiting a monument, taking a train or attending a concert because it’s inaccessible. I hope for more respect, understanding and acknowledgment of those of us who have invisible illnesses or disabilities. I hope for more access to treatment and more ways to make it affordable to all. I hope more people will choose to learn about illnesses and disabilities so they can share knowledge instead of snap judgments and stereotypes. I hope doctors and researchers will take what they’ve learned from me and from other patients to pave the way for better treatment in the future. I hope more people will stick around when their friends get sick, instead of fading away or becoming frustrated because their friend now has some logistical challenges. Back to my rideshare. I try to explain all this to the driver; to convey that it’s better for me to place my hope and optimism where I can envision it actually taking root. It’s a long ride, and as we navigate one freeway after another, the driver’s attitude changes. He’s evidently curious about primary immune deficiency, as he asks one question after the next. I answer to the best of my ability, giving the best PI 101 course I can. I ask if he has heard of David Vetter, the “boy in the bubble” from the 1970s who had SCID. He has. I explain how treatment for SCID has changed since David’s time, and how now, newborn testing and swift bone marrow transplants help many children. And after a while, it seems we reach an accord. We drift away from PI and commiserate about the heavy traffic and the state of the local airport. When we arrive at my destination, he wishes me a bright day. I hope I’ve left him with more information about PI than he’d had before, as well as the knowledge that optimism comes in many flavors. Waiting for a cure is not the only one.

Denise Reich

Medical Professionals, Please Listen to Your Patients

Another day, another doctor’s appointment. The nurse walked into my exam room with a basket of phlebotomy supplies for the blood draw that had been ordered. I didn’t bat an eyelash; I’ve been through this routine so many times I know it in my sleep. ”I had an IV in this vein two weeks ago and blood taken here last week,” I said, gesturing to various bruises on my arms. “These two veins are the ones I save for blood draws.” The nurse ignored what I told her and tried to access a vein right below the dime-sized bruise from my most recent draw. It didn’t work too well, and she was unable to fill even one tube. “I should get something to drink, it usually helps with this,” I said. Hydration usually makes my blood draws a thousand times easier, and I wanted the second stick to be successful. The nurse shook her head. “No. That will take time.” On her second try, she again ignored the “good veins” I’d pointed out and stabbed at a small one that was at an odd angle on my forearm. The needle didn’t hit the vein at all, but she dug it around in my arm until I cried out. ”Stop,” I told her. “No more. Get me the orders for the bloodwork. I’ll have it done somewhere else.” The nurse silently left the room, and when she came back with the orders she was curt and visibly irritated. At that point I really didn’t care if she was offended. Both of my arms stung from her botched attempts at the blood test and I didn’t want to continue to be used as a human pincushion. Another night, a nurse was taking my vitals. He grabbed a blood pressure cuff from his rack and wrapped it around my arm. I knew it was way too small, and politely mentioned that he’d want to use a larger size to get an accurate reading with me. The nurse shook his head. “That cuff is your size.” Except it wasn’t. The cuff squeezed my arm until I was in agony and several small blood vessels burst, leaving a web of red marks on my skin. Needless to say, the blood pressure reading was high. Pain tends to make that happen. When I was having an operation on my knee, a very impatient nurse in the pre-op area insisted I wasn’t having surgery or anesthesia. I most certainly was, on both counts. When I tried to clarify that I was in fact there for knee surgery, she became even more exasperated and talked over me. She finally realized she’d confused me with another patient who was having something else done, and she muttered something under her breath and slunk away. One day during my intravenous immune globulin (IVIG) infusion for primary immunodeficiency, I noticed my arm was swelling. The nurse did check my IV, but after she deemed it fine she ignored other complaints about it. Three hours after the infusion I was the emergency room getting an ultrasound from wrist to chest, because the arm had ballooned so much. Even though the line had been “fine,” it had still infiltrated. Three of these incidents caused pain. Two required the procedures to be repeated. One led to a trip to the ER. The fourth didn’t cause any physical harm but made a stressful day even more stressful. What they all have in common is that they might have been avoided if the provider had just listened to what I was trying to tell them. I’ve read many of the medical professional forums where patients like me are mocked. You went to medical or nursing school; I didn’t. I’m a “special snowflake.” I’m too fussy. You can tell me a thousand stories about how you triumphantly drew blood from a vein a patient said was impossible. How dare I tell you how to do your job! Stop. Let’s both take a deep breath. We’re on the same team, remember? Or we should be. I’m not trying to tell you how to do your job. I’m trying to help you help me to the best of your ability. I’m trying to make things easier for both of us. Unlike some of your other patients, I’ve been put in a position where I have to be knowledgeable about myself and my medical issues, because they’re serious. I have to be aware of how my body works. I’m not just pulling things out of thin air. This isn’t my first rodeo, or my fifth, or my 12th. My illness will likely require me to actively remain in weekly treatment for the rest of my life. In the calendar year 2019 alone, between January and August, I’ve had 74 medical appointments, tests and procedures. After clocking in that many hours, I can share the results of past trial and error with you. I’m also trying to protect myself. If I say I need a certain size blood pressure cuff, it’s because my arm has been injured before and I don’t want it to happen again. If I stress that a certain vein is a hard stick, it’s not because I’m squeamish. It’s because numerous nurses have found that vein very challenging, but they’ve had better luck with some other locations you could try. Yes, I know it looks good. Yes, I know it’s right there. There’s still a reason  I’m asking you to avoid it, and it’s for both of our benefits. I’d like to think we share the same goals. I want my diagnosis or treatment to go smoothly. You want your work to go smoothly. I’m sure neither of us want me to be there longer than necessary, and I’m also sure you don’t want to have to repeat procedures that were botched the first time around. As a patient I’m constantly told I need to be proactive about my health. I’m hammered over the head with platitudes about how it’s a “collaborative effort” and I need to express my needs and concerns to my healthcare team. I’m told if there’s a problem or potential obstacle, I should let them know. There are books and pamphlets and videos on how I, as a proactive patient, need to know what feels right with my own body so I can report issues. I do all that, but it’s useless unless my healthcare team is actually willing to participate in the collaboration. In order to accomplish that, please see me as an ally in my healthcare, not an adversary. Please listen to me, for both of our sakes. It will save me pain and it will save you time.

Sally Fowler

Tips for Calling Health Insurance Companies and Your Medical Team

Last year, I had to call my health insurance company so many times I now have their number as a contact in my phone. This year seems to be continuing the trend of needing to call to discuss one thing or another far more frequently than I’d like to be calling. Frankly, I miss being a kid and being able to hand the phone off to my dad, letting it be his problem. If it isn’t calling the health insurance company, it’s negotiating with doctors’ receptionists who think they know it all when in truth they know very little about your particular case or what’s going on, or the billing department for the fifth time because a bill is still incorrect. Worse still, is calling office after office trying to find someone who will take you on as a patient. If you’re a rare patient, you’ll be making a lot of calls. And to think, people still believe others “fake” their condition or disability for the fun perks! Ha! This is not fun. These are not perks. I’d much rather call someone else than my insurance company, various doctor offices, or the billing department. Nonetheless, these calls are inevitable when you live with a chronic illness, as I do. I’ve had complex regional pain syndrome for about eight years now. In that time, I’ve made a lot of difficult and stressful calls to find answers, fix billing errors, ask for appeals on claims and more. I’ve learned a few tips to pass on for what not to do, and how to handle these calls while remaining calm, professional, and only frustrated on the inside. What not to do: Don’t swear. Don’t yell or use an aggressive tone of voice. Don’t use demeaning words, even if they don’t know what’s going on or haven’t been helpful. Don’t hang up on them. You may not be aware of this, but it is possible for a doctor’s office to “fire” you as a patient. If you are overly aggressive towards their staff, there is a very high chance of this happening to you. It does not matter if you feel justified in being upset – they have a right to not be treated like chew toys. What to do instead: Take notes. Before you place the call, grab a notepad or an empty sheet of paper if you use a medical binder. Write the date, who you are calling, and jot down what you need to talk to them about, as well as any questions you have with space underneath for the answers. As you go through the call, write down what is said. Also, write down what call number this is, so that if the problem persists you can say how many times you’ve called. Use fun colored pens for your notes. This seems silly, but it can make looking at the notepad less stressful. Smile! The person you’re talking to can’t see you smiling, but it’s hard to be terse with someone and smile at the same time. Write down their name, and clarify that you have the right name before you continue with your call. Recording the name helps you keep better records, and can help clear up future problems. Using their name while you talk to them makes them feel like they are being heard and respected. Forgetting their name, even if unintentional, makes them feel like you don’t care what’s being said. “Please” and “thank you” go along way. Even if they weren’t helpful at all, it helps to continue on with good manners. Remember that they are people too. Chances are, the person you’re talking to is not the one who screwed up. They’re probably used to getting yelled at, but that doesn’t mean you have to be one more reason they hate their job. Be polite, say thank you, keep it chill. This will likely surprise them and they’ll be more willing to help you. Also, if this is someone you’re likely to be calling again at some point, it will serve you better to be nice, no matter how angry you are. Find a frustration outlet, other than them. Doing something that allows your frustration to vent out safely can help you stay calmer while talking to them. Pace back and forth, ride an exercise bike or walk on a treadmill, play with a fidget toy, play with therapy or silly putty, stroke your pet. Something that gets the energy out, but that won’t distract you from your conversation. Only do a set number of calls in a day. If you have a lot of calls to make, you are probably going to be more worn out by the last one. A tired person with a chronic illness is a person more likely to be terse and frustrated. Break up the list and limit yourself to two to three calls instead of all five to six. Make your calls first thing. If you can, making the calls first thing accomplishes two things: You know you’re calling at a time when they are open, and you get the calls over with. If your condition is worse in the morning, wait until a time of day when it settles. Be friendly. Sometimes you may hear a representative apologize for their computer being slow. Reciprocate their frustration by making a light comment about how it’s Monday and the computer just doesn’t want to work. Or tell them that it is OK, your computer is slow too! If they ask how your day is going, answer them and ask about theirs. If you have chronic pain, get yourself in a comfortable position. If you force yourself to hold a position that triggers more pain, it will make you more stressed out, tired and less patient. I use all of these tips, and the result? These calls are still difficult, but I’m a lot better at staying professional and tactful, even when I’m furious. I take notes with fun colored pens — usually two colors, one for questions, one for answers. I smile real big even when fuming on the inside. I’ve played with therapy putty, stroked my dog, or ridden an exercise bike while making calls. I use people’s names, say please and thank you, and engage in non-related conversation. I remind myself that they are people too, doing a job where they probably get yelled at more than thanked. Sometimes I even encounter people who are just as irritated as I am that I’m not getting proper care, or that a bill is repeatedly wrong, or that I can’t get approval for a treatment that could help me. Part of chronic illness means having to call these types of businesses far more often than the average person. You’re forever in a long-term relationship with your health insurance company and countless doctor offices. It’s a good idea to cultivate a good relationship, as best you can, even when it’s hard. It’s incredibly easy to yell at the faceless voice on the phone. But easy isn’t always the best method.

Victoria Rio

Questioning Your Identity With Chronic Illness

I developed chronic conditions in adolescence, a crucial period in identity development. Turbulent to begin with, my being sick didn’t help in trying to navigate the search for who I was. My illness became my identity. For the past six and a half years, my life has largely revolved around my symptoms. They dictated how many classes I could take and hours I could work, narrowed my social opportunities, and generally limited my activities to what I could tolerate. Day by day, hour by hour, my plans shaped themselves around my symptoms. I was passive, playing second fiddle to my illness. In the past year, my symptoms have abated to a point at which I can pretty much function through them. I can make it through the work day with migraines, fatigue, brain fog, pain, etc. I’ve learned to accept, manage and work around my limitations. I’m still sick, but I’m grounded, functioning and hopeful. One thought persistently nags at the back of my mind, though: Who am I without my illness? My identity as a young woman, my personal goals and professional aspirations have all been built on the  scaffold of chronic illness. I was the “very sick girl.” Now I’m the “functioning but sick girl,” and someday I might be the “former sick girl.” On some level, I am terrified of letting go of that identity. What would remain? I am torn between the need, on one hand, to pretend to the world and myself that I am healthy and capable, and on the other hand, to justify to myself and others that I really am sick, unlike other employees. I feel conflicted about accepting credit for my accomplishments because of the incredible amount of help and support I’ve received along the way. I simultaneously crave to be normal and special, to blend in and hide, and to stand out. I want my illness to be acknowledged, but don’t want to be judged for it. I’m terrified of being sick, but afraid of being too healthy. Who am I without my illness? I’ve had to make peace with the fact that I will never know the answer. I’ve had to accept that my identity is irrevocably intertwined with my chronic illness. I’ve had to mourn the life I could have had and learn to appreciate the unique opportunities afforded by my experience. My illness shaped my career aspirations, endowing me with an empathetic passion for helping children and families cope with chronic medical conditions. It gave me perspective and determination. I am not my illness, but I am me because of it.

What to Know: Approaching Children With Disabilities and Their Parents

For years we were able to sneak under the “disability radar” with Adelaide. She has no major facial or physical characteristics calling attention to her, so most people just thought her low tone and lethargy were a sign that she was sleepy. But as she is getting bigger and older, her behavior is giving her away. In no way do I mean this negatively, it’s just that I realize now that people can see she is different — which in turn means she is often treated differently. Be it out of necessity or protectiveness, we don’t often spend time with people who don’t already know Adelaide or at the very least her story. For the last five months she was connected to oxygen and often unstable, meaning she didn’t really leave the house unless it was to a familiar place and/or medically necessary. Needless to say, she wasn’t exactly a socialite entertaining gobs of new friends. Still, when we would venture out, I registered the looks of pity on the faces of passersby as they saw her with the nasal cannula taped to her face. I’d overhear their remarks that they were “so lucky to not have a disabled child like her.” At best, it wasn’t helpful, and at worst, it stung. Still, they were fleeting moments with people that I never needed to speak with or see again. Now, she’s off oxygen, and aside from seizures, she’s relatively stable, so we’re no longer on house arrest. So when a friend invited me to her artist-friend’s jewelry release party, I found myself able to say yes! I dropped Jackson for a playdate and headed over early with Adelaide. Her mast cell activation syndrome (MCAS) has been really sensitive lately and strong scents can cause her to have a really uncomfortable allergic reaction. I figured the earlier we could get there the better for Miss A’s mast cells. Prior to other guests arriving, Adelaide snoozed in her stroller and I chatted with a friend and the jewelry designer, who, as a result of Crohn’s disease has a g-tube and the exact same feeding pump as Adelaide. Never before did I think chatting durable medical equipment would put me at ease, but it sure did. As people started to arrive, Adelaide woke and I got her out of her stroller and held her on my lap. I watched as a guest walked in with a baby and I was relieved to feel my anxiety kept in check. I used to have a really hard time being around young children and babies. It reminded me of all the things a neuro-typical baby could be and would be and everything we were mourning (at the time) in Adelaide’s life. Over time, I began to accept Adelaide for all she was and all she could be and those difficult feelings dissipated. After having no issue greeting and chatting with this lovely new mother and her incredibly sweet baby, I mentally gave myself a pat on the back. I have to admit though, that I was completely unprepared for my interactions with other guests. It was the slight stares that I noticed first. Guests would walk in, scan the room for people they knew and stay just a second or two longer on Adelaide. She was quite awake at this point, but required significant support and wiggled around as she does when she doesn’t want to be held. (Side note: now that Adelaide is more alert, we are learning that she has lots of opinions about cuddles, as in, she is not a fan. Strong-willed does not even begin to describe Miss A.) I’m holding her, as we are both trying to be social and “normal,” and she’s not having it. Adelaide does not move the way a typical child would move, nor does she open her eyes all the way as a typical child would. I know that of course, but only two other people at this party did. I watch as women walk up to the mom with the baby and talk directly to the baby, asking the baby her name and how old she is. The baby can’t respond of course. Next, one woman sits near me and I introduce myself and begin friendly conversation. I notice that the woman never verbally acknowledges Adelaide, let alone speaks directly to her. I make eye contact with another woman a few feet away and introduce myself; she asks a question about Adelaide but makes no attempt to interact with her directly. The most common initial question I received was “How old is she?”. It would obviously have been impolite to ask why she is “different,” but I can see the questions running through their heads all the same: She looks mostly normal, right? But something’s not quite right… I wonder what’s wrong with her? Does the mom know something’s wrong with her? I know they were thinking this, because prior to Adelaide, I had all these questions run through my head when meeting other people’s children with disabilities. Before I knew it, I had developed a script: “She’s 3, but developmentally a newborn. She has epilepsy.” With their curiosity quenched, the conversation moved on to other topics with which they were more comfortable. I want to make clear that these were all perfectly nice women that I enjoyed chatting with, but Adelaide’s presence absolutely had a noticeable effect on their behavior. In recounting this experience to a friend, she asked me how I wish strangers would interact with us. I realized I just wanted Adelaide and I to be treated the same as any mom with a child would be: acknowledge both of us, speak to Adelaide directly — regardless of whether she can respond. Also, don’t be afraid to ask questions! I have yet to meet a caregiver who would rather not answer simple questions about their child’s disability and instead welcome the inquisitive stares. At the end of the day I’m a woman who is a mom with a child who happens to have a disability. Those descriptors should make us more interesting, not make those around us uncomfortable. This is clearly a much larger conversation about how our culture views disability, but suffice it to say that I know Adelaide is a kick-ass little girl and anyone who is too blinded by societal norms to see that is missing out.