The Talk I Never Expected to Have With My Uber Driver About Rare Disease

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I love Uber. I mean, who doesn’t? Three taps on your phone and you have a guy in a nice car picking you up, opening your door. It would sound like a great start to a first date if the next sentence wasn’t, “So you’re headed to the airport?” And if the guy didn’t look more like my grandfather versus Adam Levine.

“Yep,” I said, “Just headed home.”

“Where’s home?” He asked the perfunctory questions Uber drivers use to begin the animated but obligatory conversations of the less-than-formal UberX service.

As we drove and chatted, he told me about his daughter and her family who live in Pittsburgh, Pennsylvania.

“I used to live in Pittsburgh,” I added, omitting I ran as fast as I could out of that city when I completed law school. Something about the award-winning rainy season and achingly long winter kept me from staying, surprisingly.

“Oh, what were you doing there? In school?”

“Yes, law school,” I noted.

“Is that why you were here in town? Lawyer stuff?” he asked, speeding down the sunny highway in Huntington Beach, California, the blessed opposite of Pittsburgh’s gloom and snow.

“No, I really don’t practice law anymore. I’m a rare disease advocate. I was speaking at a conference.” I was referring to the annual Global Genes Patient Advocacy Summit, a conference held each year where parent and patient advocates of some of the almost 7,000 rare diseases meet to learn, strategize and network for the benefit of our organizations, our children or ourselves.

My involvement with Global Genes, a leading rare disease advocacy organization, began not long after my youngest son, Case, was diagnosed with the ultra rare disease Hunter syndrome, also known as mucopolysaccharidosis II or MPS II, when he was 2 years old.

He was diagnosed by my mother, an RN, after she happened to watch an episode of the show “Mystery Diagnosis” about a boy with Hunter syndrome. Now, such an event wouldn’t seem so astounding unless you knew Hunter syndrome is so rare that it only “occurs in approximately 1 in 100,000 to 1 in 170,000 males,” according to Genetics Home Reference. So for my mom to sit down and watch that show about that disease with a grandson…oh, you get it.

Hunter syndrome is a horribly cruel disease. It typically causes progressive loss of all physical and cognitive abilities, and the average life span a person with Hunter syndrome is in the early teens. My mom had to tell me she thought Case had it.

She was right.

After his diagnosis, I began blogging at SavingCase.com and started working with the FDA on issues about our disease, eventually forming a foundation and raising money for more research. This summer, we launched a social media campaign at ProjectAlive.org, which garnered a lot of support, and we’re hoping to proceed with funding a clinical trial over the next year. So I was invited to the Global Genes conference to speak about my work with the FDA and to share Project Alive with the broader rare disease community.

It was an eventful conference, but the trip was over, and I was headed back to Tennessee via an Uber driver and Southwest Airlines.

When asked about how I got into rare disease advocacy by John, my Uber driver, I shared the fact that my son was diagnosed with a rare disease at 2 years old, and thus, my passion for the cause.

“Oh, I know about rare disease,” John said.

I could hear the sorrow in his voice. I expected a mention of an elderly relative with Alzheimer’s, not necessarily rare, but thought to be by the general population. Or, a brother with ALS, recently a greater focus of discussion in large part due to the hugely popular Ice Bucket Challenge.

I often receive sincere and hasty quips of sympathy when I mention my son’s battle.

“Yes, you see, my daughter, the one in Pittsburgh, she has two sons. Well, one has already passed away. They have a rare disease called Hunter syndrome.”

Errrrrrrrrr…what?!?!?

Like the snap of a slingshot — bing! My eyes shot up and my mouth sagged in astonishment as I struggled to stutter out my response.

John kept talking about his beloved grandsons, and I was reluctant to interrupt his heartfelt sharing, but I had to speak.

“M-m-m-m-y-y-y-y son has Hunter syndrome!” I almost shouted or whispered — I’m not sure which in retrospect.

He must have thought I was joking, because he looked in the rearview mirror to make eye contact, saw that I was absolutely serious and then the tears started welling up.

I think we both instantly tried to calculate the odds of us both having Hunter syndrome children in our families, him driving Uber, me calling Uber, him deciding to pick up this particular ride, us both being willing to share. Then, we just accepted the odds were incalculable, and we were just simply supposed to meet.

He shared about his two grandsons. He asked about my son.

I shared about the latest research and our efforts at awareness and funding.

When we finally arrived at the John Wayne Airport, we were both in tears at the providential meeting and the openness with which we both shared our private but passionate battles with the monster that is Hunter syndrome.

We hugged.

We parted.

And our far-flung rare disease community moved closer, if only for a day.

Melissa Hogan.1

Follow this journey at SavingCase.com.

Do you have a story about your experience with disability or disease? Maybe a moment that made a big impact on you? Please send it to [email protected] and include a photo for the story, a photo of yourself and a 1-2 sentence bio. Check out our Share Your Story page for more about our submission guidelines.

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The One Painful Thing No One Told Us About Our Child’s Clinical Trial

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“The risks include serious bodily injury, paralysis and even death.”

I’ve read those words now enough times that it doesn’t even phase me. Jaded? Maybe.

But when your child’s disease involves the certainty of death, the possibility of death doesn’t look so scary, especially when it’s coupled with the possibility of life offered by a new and experimental treatment.

How did I end up so jaded? And what risk could be as bad as that?

My son, Case, was diagnosed at 2 years old with the ultra rare disease Hunter syndrome (or mucopolysaccharidosis II). The clear impression from his doctor and the literature is that we would watch our son lose every skill he has — from walking and talking, to laughing and recognizing his family — until he died young, most likely by age 15.

So when we found out that a clinical trial was opening for his condition, we were all in. If we were going to go down, by golly, we’d go down fighting.

The trial planned to give the enzyme his body was missing, idursulfase, via infusions that would travel up his spinal fluid into his brain. The goal was to halt the progressive brain damage that was already stealing his words, his desire to play with his brothers, and his ability to control normal human impulses that would prevent the rest of us from leaping down a flight of stairs, running in front of a car or stuffing our mouth so full of food, we would choke.

At 3 years old, all that made him him was already being stolen moment by moment by a disease so terrifying that I cried every single day for the first year after he was diagnosed.

So when I read the 21-page informed consent for the first time, I didn’t even really read it. What it said was not going to change my decision. We had no other option if we wanted to save our son.

The doctor was careful to emphasize that they were simply hoping for stabilization. They weren’t certain it would even work. Or that the risks wouldn’t be too great.

So when Case slowly started learning again, started singing, playing, listening and swimming, we were thankful we’d made the right decision.

But there was one terrifying thing they never told us.

That 21-page consent never told us we would still have to watch his friends die.

It never said we would be shown the promise of life, but that it would take many years before most of Case’s friends could even dream of having the same opportunity.

Jack and Case

It didn’t say he would become aware enough to look at me and ask, “Why Jack not talk to me?” because his friend, Jack, had lost his words without ever getting access to this treatment.

It didn’t warn us that he would start to play with the siblings of his friends with Hunter syndrome and unknowingly leave his friends behind.

It didn’t warn us that our hearts would burn in pain for our friends, all the while the pain of watching our child slip away… was slipping away.

When your child is diagnosed with a horrible disease like Hunter syndrome, all you want is for your life to go back to what it was before.

But once you’ve lived in this world, it changes you. Your love for innocent children and broken mothers with shattered dreams transforms your world from the inside out. And when the opportunity arises where you can literally almost go back to your life before, you can’t. You won’t. You are forever changed.

You just want to save them all.

Learn more about our efforts to save them all at ProjectAlive.org. Follow this journey at SavingCase.com.

The Mighty is asking the following: What’s one thing people might not know about your experience with disability and/or disease, and what would you say to teach them? If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Share Your Story page for more about our submission guidelines.

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What I'll Never Tell You as a Special Needs Parent

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As a special needs parent, there are many things I will never say.

I believe most parents like me speak in “code.” I’m pretty sure I’m not alone with this.

I will never tell you that today I cried. I will tell you, “It was a tough day today.”

I will never tell you that today I wished I had somewhere else to be. I will ask you to swing by the house, only if you are passing.

I will never tell you that today I got a phone call to let me know that my son Ethan has showed a decline in his mobility and cognitive abilities. I will tell you, “He is holding his own.”

I will never tell you Ethan has a test coming up, which has me awake most nights. I’m afraid of the newest decline. I will tell you Ethan has a hospital appointment soon. I may even ask if you could watch my other two boys so my husband D and I can both attend.

I will never tell you that the school rang with another behavior issue, which made me feel like a sh***y mother. I will tell you I’m a little cranky today, so bear with me.

I will never tell you the real reason I don’t sleep at night. I will tell you I have a slight case of insomnia, or D was snoring so badly last night, or the baby was up…

I will never tell you I don’t want to hear about how great your child is and how much they are thriving. I will smile and cheer along. I do care, but some days it’s harder to look past everything my child can’t do and won’t ever do.

I will never tell you that today I just needed a friend, a helping hand. I will tell you, “Call up and we’ll have a chat!”

Why do we speak in code? For me, it’s easier. It’s hard to be totally honest with your friends and family. It’s even harder to be honest with those who actually want to help and give you some form of support.

The truth is, parents like me don’t want to be a burden. We don’t want to have to ask for help, and we sure as hell don’t want to be pitied.

Well, what do we want?

For you to look. When you visit, just look. You’ll see exactly want we need in that moment during that visit. A simple little thing like a cup of coffee can go a long way. Get to know our special little ones so that when you do offer to babysit, we are happy to take you up on the offer. Visit us. Bear with us as we try to converse. Please never feel you are in the way.

And do talk about your worries, fears, relationships and wonderful children. This makes me feel just like you —a mom, a friend, a sister, a partner.

The author and her son touching foreheads

A version of this post originally appeared on Firefly Friends.

The Mighty is asking the following: What’s one secret or truth you wish you could tell others about your experience with disability, disease or illness? If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Share Your Story page for more about our submission guidelines.

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When a Man Called My Son With Hunter Syndrome a 'That'

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“Can we just make sure he has a room to himself, please,” I called after the nurse as she turned on her heels and left the waiting area.

I could feel their eyes on me as one parent whispered to the other. Ethan was now trying to knock over the huge goldfish tank. I didn’t have time to eyeball them back. I bent down to Ethan. “Room ready soon,” I told him as he began to kick and scream. I tried all the distraction tools, the usual treats and promises, but he was having none of it.

The tears came fast as his demands grew. “I go home,” he roared as he pushed me hard against the tank. She returned at that moment. “Room is ready for…” she glanced at her clipboard. “Ethan,” she finally said. “Here!” I stood up, “Come on baby, we go see TV.” I smiled at him, hoping he’d happily come along. No such luck. I threw his bag over my shoulder and dragged him down the long, busy corridor. “Nooooo fug off,” he squealed as we reached our room.

“Um, sorry but um… this is a ward,” I said, looking at her. “It is,” she looked at me, then at Ethan, who was now trying to gnaw his way free from my grip. “We, I mean, he can’t do a shared room, a ward, I mean,” I almost apologized. The other parents in the ward were now watching Ethan and me and this nurse. “Well, today you’ll have to. Sure, you’re only here for four or five hours, it’ll be grand.” My face flushed. “But, sorry, but… he can’t and won’t settle in a busy ward. You’ll have no hope of getting his infusion done.” All eyes were now on me. She took off her glasses and looked at Ethan, who was now wailing like a banshee and kicking my leg. I didn’t flinch. I didn’t advert my eyes from hers. “Today is too busy. He’ll have to stay here or you’ll have to wait longer, it’s up to you.” She stood firm.

I threw his bag on the bed and brushed passed her while Ethan head-butted her side. “Can you let Susan know we’re here then,” I said, without looking at her. I was annoyed. Ethan was annoyed. The whole bloody ward was annoyed. She left.

Ethan screamed and kicked as I tried to load up his portable DVD player as quickly as I could while dodging his punches. “Excuse me…” his voice was deep but quiet. I looked up. At the foot of Ethan’s bed stood a man I’d never seen before. “Sorry now, but my daughter is just back from getting the appendix out.” He nodded toward a small girl across from Ethan’s bed. I looked over then back at him. “Oh.” I stood up while Ethan was calmer now, throwing his DVDs at my back and laughing.

“You need to keep that under control.” He nodded at Ethan.

My heart literally stopped. Did he just refer to my son as a “that“? My mind raced. “What?” I asked, my voice beginning to wobble. “You heard me. Control that.” He pointed at Ethan this time. I froze. I didn’t have a clue how to respond. He walked back over to his child’s bedside and closed his curtain. My eyes stung as Ethan laughed and laughed, very much like a hyena. My legs turned to jelly and my lip wobbled while I told myself over and over, Get a grip, you can’t handle him until you handle you. I took some deep breaths.

The curtain beside Ethan’s bed slowly pulled open. There was a woman standing there looking at me. “Are you OK, pet?” she gently asked. I nodded. I didn’t look at her. I was afraid that if her face matched the kindness in her voice, I’d break. Ethan was oblivious to the scene which unfolded in front of him and was happily singing along with Mickey Mouse.

The nurse came back in. “The guys are ready now to put the cannula in.” I stood up. The woman was still standing there. I smiled at her as I took Ethan’s hand in mine. “Everything OK?” the nurse asked as I faced her. I nodded. We left to get Ethan cannulated and returned 25 minutes later. The man’s curtain was open.

I sat a very upset Ethan down and handed him a bar while telling him, “Susan will be back next week.” Susan, his nurse for the past six years, was sick today. Susan, who saw us every single week, had to pick this week to be sick. “FUG OFFF FUG OFF,” he roared as I tried to reload the unreliable DVD player.

“Jesus. Can you not control him?” The dad was standing at the end of the bed, again. “How long are you going to be here for? Are there no drugs you can shut him up with?” he asked with venom in his voice. “F**king retard,” he mumbled as he walked away.

I cried. I wish I hadn’t. I wish I could tell you all how I stood up to him, for my son, but that would be a lie. I sat on Ethan’s bed and cried. I cried for Ethan, I cried for me and I cried for how nasty people can really be… yet he, that excuse of a human, was given a perfectly healthy child, while I’d been given a terminally ill child. I cried more when I thought about how unfair life is.

The kind lady was nowhere to be seen, but the other parents there just watched and listened, not one of them saying anything.

Suddenly I heard my mother’s voice in my head, telling me to stand up to his “kind,” advice she’d given us years ago, when neighborhood kids would call my brother a “handicapped” or a “retard.”

Taking a deep breath, I walked over to his child’s bed, pulled back his curtain and calmly asked, “What did you call my son?” My face was bright red, I’m pretty sure of it. “Nothing,” he responded, looking up at me while his child slept. I wasn’t expecting him to deny it.

“I heard you.” I stared at him. He sat straighter in his chair.

“You need to control that over there and leave me here in peace.”

“Stop referring to my son as a that.” I didn’t miss a beat. He rolled his eyes. I could hear Ethan getting off his bed, I could hear him unsteadily coming toward me and I could feel everyone else listening. I lowered my voice. I’m sure I could’ve handled the whole thing better, but emotions and temper did get the better of me. “You, sir, are an a**hole, a very, very ignorant a**hole. I certainly hope you don’t teach your beautiful little girl how to be just like you.” I turned just in time to stop Ethan hitting her bed. “Come on, Ethie, let’s go and play on your bed.”

Ethan took my hand, then suddenly he stopped. I bent down and he gently kissed my forehead.

Maybe he understood how upset I was, or maybe he just wanted more sweets… I don’t know. “Blove you,” he smiled as I looked into his eyes. He turned to the man and roared “NOT YOU.” We walked over to his bed, where we stayed for six painstakingly long hours while he received his ERT.

The man didn’t bother us again.

I told the nurse as we left the whole story and why we need a private room every week, not just when Susan is there. “I’m sorry. The lady told me already and told me to give you this.” She handed me a piece of paper.

Later that night after I relived the day with my husband, D, I remembered the piece of paper. I took it out. There in black and white, she’d written, “You don’t have to be strong all the time, it’s OK to cry.” And so… I cried.

A version of this post originally appeared on GeraldineRenton.com.

The Mighty is asking the following: Describe a moment you were met with extreme negativity or adversity related to your disability and/or disease (or a loved one’s) and why you were proud of your response — or how you wish you could’ve responded. If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our “Share Your Story” page for more about our submission guidelines.

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To the Mom at the Pool Holding Her Son's Hand

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I saw you.

I saw you hold your son’s hand. He looked about 11 or 12. That was my first tip-off. Most boys that age won’t willingly hold their mom’s hand in public.

I saw you checking out the hotel pool, scanning it for potential triggers. Searching for the best place to set up camp for your family — closest to the exit, plus closest to the pool.

I saw you prompt your son into the water, or as close as he could manage at first. His hands over his ears, he managed to sit on the side with his feet in. I saw his eyes squinting tight, but after a while, he relaxed. His hands never really came down off his head, but relaxing, he flapped them from time to time.

I watched you, your husband and your daughter all get in the pool and stand around and in front of him, forming a sensory shield. All smiling. But I noticed you, Mom, still scanning the scene, ever watchful.

I gave you a big smile. I know my tribe. I wanted to swim over and fist bump you or give you a high-five. Of course, I had my own son to keep eyes on. Plus, I never figured out a good opening line when I spot another autism spectrum disorder (ASD) family. “Flap here often?” isn’t so smooth. I could only hope you saw my smile that was just that, a smile. Not condescending or with pity. I just wanted to acknowledge you.

I saw you the next morning at breakfast. You “opened the joint” like we do. I smiled and wished you all a good morning. I overheard your son ask quite anxiously, “What time is it?” to which your husband replied quite wearily, “It’s vacation. It doesn’t matter what time it is.” I heard you sigh. You knew how it mattered but you also knew how your husband felt. Doing that dance of trying to keep the peace.

I hope you had a good vacation. Maybe it’s not the type of vacation others would enjoy, but for your family, it was great. I wish I could’ve told you how nice it was to see one of our own. That just seeing you and your family made me feel less outnumbered by the “typical” families around me. I wish we ran into each other more. Maybe we would’ve thrown our heads back and laughed at a joke only we could understand. Maybe somehow you’ll see this blog and realize you weren’t the only one at that resort with autism in your life. I hope you and I find more of our own wherever we go. To keep us company. To help and support. To sound off and give advice.

Maybe even just to share a side of fries.

A version of this post originally appeared on Autism With a Side of Fries.

The Mighty is asking the following: Share a travel moment related to disability and/or disease that made you laugh, cry, roll your eyes or was otherwise unforgettable? If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our “Share Your Story” page for more about our submission guidelines.

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The Gift My Best Friend Gave Me After I Told Her My Son Has Autism

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For a long time, my husband and I knew something wasn’t quite right.

TJ walked on his toes. He had no words. He squinted when he looked at lights. He stared at ceiling fans. He had frequent meltdowns for seemingly no reason.

It was autism. When the professionals told us, we somehow already knew. But hearing it from them made it real.

We were numb. We took some days for ourselves to absorb the information. We started therapies immediately and took our first steps into this lifelong journey that we weren’t prepared for.

After a day or two of receiving our diagnosis, we started calling our family members to let them know. Some already knew, since we come from a family of educators. Can’t get something like this past them. And they were all strong for us, telling us encouraging words of hope and strength.

Then I called one of my best friends, Jennie. She is one of the straightest shooters I know and doesn’t sugarcoat anything. We’ve already been through a lot together — this was just one more thing. She lives out of the country, and we only get to see each other once or twice a year. But that makes no difference. We always pick up just where we left off. I can always count on her. Always.

When she heard my voice she immediately knew something was wrong. I simply said, “TJ has autism.”

And then she started to cry.

And then I started to cry.

And it wasn’t until that second that I realized I hadn’t really cried yet. Until then, we all were being strong for everyone else. I felt responsible for my husband. He felt responsible for me. And we both felt responsible for our family.

But my no muss, no fuss friend made it OK for me to cry.

What a huge gift that was. Everything between Jennie and me has always been so honest, so straightforward, with no BS. And this was no exception. Once again, my dear Jennie gave me one of the most honest experiences of my life.

It was OK just to cry.

And so we did. And laughed. And talked. And I still got all the hope and strength I needed through those tears. But I really, really needed those tears.

And I don’t know if I ever thanked her.

So thank you, my dear Jennie, for that gift of allowing me to just cry so many years ago. It was the first of many “autism cries” that really helped me move forward with the task at hand and allowed me to get some serious work done with my boy.

I will never forget that first good cry, though. What an incredible gift.

What an incredible friend.

The Mighty is asking the following: What’s one unexpected source of comfort when it comes to your (or a loved one’s) disability and/or disease? If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our “Share Your Story” page for more about our submission guidelines.

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