Lisa W.

@lisamighty | contributor
Lisa W.
Lisa W. @lisamighty
contributor

Celebrating Our Supportive Community on Rare Disease Day

Rare Disease Day feels different this year. We’re in the thick of it. In past years, we supported the day in solidarity with other rare families and in celebration of my son Z’s good health. Managing his condition had only required check-ups with specialists while waiting for him to be old enough to tackle eye and head surgeries. We felt connected to the rare disease community, but not exactly part of it. But now we’re in it, the dense jungle of fighting for a medically complex kid. Doing research, finding specialists, getting referrals, making appointments, setting up travel, dealing with insurance — that’s the easy part. The harder, and more important work, is supporting Z through the fear and anger surrounding exams and procedures and surgeries. We knew all of this was coming (“at some point,” as Z likes to say), but nothing prepares one for the emotional, mental, and physical toll of a season like this. Thankfully, we have support. From friends and family, other parents dealing with anything “extra” like ADD and Autism, and others with rare diseases. The funny thing about rare disease is that it’s not rare. A disease is considered rare if less than 1 in 2,000 people have it. Z has two genetic conditions, and his combination is 1 in 1,000,000 chance. (He really is one in a million!) But in total, 300 million people are living with a rare disease. Which means rare is actually many, and we personally know families facing multiple sclerosis, Fanconi anemia, trisomy 9, and more. They’re an incredible source of strength. We’ve also found support from total strangers. When Z was a baby, I shared our story on The Mighty. Three years later, a young mom reached out to me on Facebook. She’d read the article and was struck by how similar her daughter’s prognosis was. Z’s story had been a source of hope for her, and she returned the gift by encouraging me to join a Facebook support group for linear nevus sebaceous syndrome (LNSS). That group has been welcoming, generous, and so informative. After four and a half years, four medical systems, and three insurance companies, Z was finally seen by a doctor with actual experience in his rare condition. All because of a referral on that Facebook group, because of another mom reaching out, because I shared our story on The Mighty. To me, that is the definition of community. So yes, we are in the thick of it with medical stuff. But we’re also in the thick of a community of caring, helpful people supporting us every step of the way. And that makes all the difference.

Lisa W.
Lisa W. @lisamighty
contributor

How the Rare Disease Community Made Me a Better Person

On Rare Disease Day, it’s important to remember that parents of medically complex children aren’t heroes; we’re just regular people doing the best we can to love our kids through difficult circumstances. While I’m no hero, I do believe I’m a better person because of what my child and others in this community have taught me. Shortly after my son was born, he was diagnosed with a rare genetic condition with an unknown prognosis. Overwhelmed by fear and uncertainty, my husband and I decided not to share the news with many people. We relied on long-distance family and a few close friends for support. We desperately searched for hope in the scant medical information available online. We faced countless tests and doctor’s visits alone. After nearly a year of privately navigating a complicated and terrifying situation, we felt comfortable enough to open up about his journey. I wrote a story on The Mighty that we shared with friends and family. The response made us feel more loved than we ever could have imagined. People called, wrote, texted, and sent messages to offer support. Overnight, we had a community rooting for us, and the uncertain future was suddenly so much less overwhelming. But then something even more remarkable happened: families we had no idea were facing similar situations reached out. An old friend shared that her daughter had also been born with a rare genetic condition. A friend from work confided she was managing a chronic, debilitating illness. Another colleague told me for the first time that her son is autistic. A college friend revealed that her son had dealt with medical issues since birth. Even close friends opened up to us differently. When I struggled with kids asking about the growth in my son’s eye, a friend shared her experience with kids commenting on her son’s speech disorder. Another family got in touch when they learned their daughter was on the autism spectrum, because they knew we could relate in some small way. It suddenly became clear how many people around me were fighting battles, and I started to see the world differently. I realized the picky eater might have special dietary needs. The guy holding up the line could be struggling with intense pain. The moody coworker might be caring for a sick child. I noticed the “innocent” jokes on sitcoms about skin conditions, eye problems, and other physical differences, and tried to become more sensitive in the words I myself used. I became more aware, more patient, and on my best days, a little gentler with the world around me. My son will have several surgeries when he’s older to remove growths on his head and eyes, but otherwise, he’s a happy, healthy toddler. My gratitude for his health is matched only by my deep empathy for those overcoming even greater obstacles. My hope is that our experience with his health condition and our connection to this community will help us raise him to be gentle and compassionate to everyone he meets. So, thank you to everyone who has reached out and opened up. You’ve reminded me that we’re not alone, and you’ve helped me become a more understanding person. I hope we can all feel like we’re a little more similar than different, and each feel a little closer to one another this Rare Disease Day, regardless of our individual challenges ahead. Together we are strong.

Lisa W.
Lisa W. @lisamighty
contributor

Parenting a Child With Linear Nevus Sebaceous Syndrome (LNSS)

When our son was diagnosed with a rare genetic condition shortly after birth, the first question my husband and I asked was, “What do we do?” The answer will not surprise anyone who has dealt with a rare illness: wait. Baby Z was born with a large growth on his head, a small hole in his head, and three growths on his right eye. If these turned out to be his only issues, we were dealing with best case scenario. But the combination of these symptoms meant he had linear nevus sebaceous syndrome (LNSS), a disease that usually impacts multiple organ systems in severe ways. In many babies with such a large nevus growth on their heads, the brain inside the head is affected in the same way the outside skin is – as one doctor put it, “like scrambled eggs.” So when we asked the doctor who made the initial diagnosis what to expect, she said, “You wait for things to blossom.” I now hate the word blossom, along with the phrases “Vegas odds” and “crystal ball.” Like with many rare diseases, there is no one doctor who treats linear nevus sebaceous syndrome. For Z, a geneticist looks at the big picture, but doesn’t treat anything. A pediatrician manages his overall health and keeps an eye out for anything unusual. A dermatologist treats the exterior skin issues. A neurosurgeon and craniofacial plastic surgeon monitor the hole in the head and plan the surgeries needed to remove the growth. A pediatric radiologist oversees the complicated process of performing MRIs on a baby. An ophthalmologist regularly examines his eyes to makes sure the growths aren’t interfering with his vision, and will perform eye surgery to remove the growths once he’s old enough. If other symptoms present, other specialists are added. Our job as parents, the doctors said, was to love our baby. But the overwhelming love I’d felt since his birth had instantly transformed into an equally powerful feeling of helplessness and fear. Was his forehead uneven? Did that mean he had cranial asymmetry? Was he on the short end of the growth chart because his bones weren’t forming properly? Did he just have an infantile spasm – or was he simply reacting to bumping his knee on a table? As he grew older, each milestone became a victory. Every mom feels excitement and pride when her baby sits or babbles for the first time. I felt soul-shaking relief. I cried when he rolled over for the first time, and when he started crawling, and when he got his first tooth. And still I waited. I felt guilty that he was healthier than so many kids with this illness. I felt resentful that he wasn’t as healthy as the other babies around me. I felt grateful with each day that passed. There is no set timeline for manifestations of this syndrome, but the general sense is that he’ll be “out of the woods” if serious symptoms don’t present before his first birthday. He’s 9 months old now, and seems to have been spared the worst: no neurological problems or development delays, no vision impairment or cancerous tumors in his eye, no issues with his teeth, bones, or muscles, no seizures or infantile spasms. The very best case scenario. Yet being “out of the woods” does not mean his medical journey is over. Over the next few years, he’ll have a series of surgeries to remove the large growth on his head, ear, and neck, which has the potential to turn into skin cancer. Each of these procedures will involve several months of preparation that entails inserting a balloon under his skin and pumping it up with salt water each day to stretch the skin so it can be pulled over part of the growth. He’ll also have surgery or surgeries to remove the growths on his eye. We are grateful, but we also are aware that for Z, the hard part is still ahead. So we try to teach him resiliency for when he’s in pain or exhausted from medical procedures. We work on building his confidence so that he can better handle possible teasing over his appearance. We expose him to lots of different situations and people, in the hope he’ll be comfortable in a hospital staffed with caregivers who are strangers. But mostly we focus on the day-to-day life of raising an incredible kid. Through the exhaustion and exhilaration of everyday parenting, we do the best we can to surround him with love – because that’s our job.