7 Questions to Ask Yourself If You Think Rare Disease Day Doesn’t Apply to You

5k
5k

Approximately one in 10 Americans has a rare disease. That statistic sounds big and meaningful, even considering that there are approximately 7,000 rare diseases collectively.

But on the flip side, that means nine out of 10 Americans do not have a rare disease. Why should they give a flying flip about rare diseases or Rare Disease Day? Of course, some percentage of those people may have someone with a rare disease in their immediate family or extended family, but that still leaves a large portion of the population “unaffected” by rare disease.

If that’s you, why should you care about Rare Disease Day, coming up on February 29? Here are seven questions to ask yourself:

1. Are you or will you be a parent?

When 2009 began, I had three healthy children — or so I thought. Rare Disease Day didn’t apply to me until April 2009, when my youngest son was diagnosed with Hunter syndrome (also known as MPS II), a disease that affects one out of 162,000 live births, according to HunterPatients.com. Although it’s a genetic disease, his was caused by a spontaneous mutation that can happen upon conception, most of which are often not tested for in the womb (reminder: there are almost 7,000 rare diseases, many of which have multiple different mutations that cause them). In many genetic diseases, children (sometimes even into adulthood) appear healthy until the disease begins to manifest itself. One day your child is just a kid. And then the next day, you may find out he’s dying. That may never be you. But it could be.

2. Are you or will you be a grandparent?

Sometimes grandparents or other relatives notice things that (often overwhelmed) parents don’t even see. My mother actually helped diagnose my son after she watched an episode of the series “Mystery Diagnosis” about, you guessed it, a boy with Hunter syndrome. His symptoms were so mild neither his doctor nor I picked up on them. Neither did the several specialists he’d seen for various reasons in his first two years of life. There are countless other stories of an aunt here or a cousin there who helps point their relative in the direction of a rare disease diagnosis.

3Do you work in a school?

There are good odds that at least one child (or teacher!) in your school has a rare disease. Why does that matter to you? Well, remember those grandparents or other family members who notice things? You spend many hours a day with children, and you may notice things, too. Now, of course, sometimes it’s not your place to say anything, but some circumstances can be unique. And sometimes parents freely share their child’s unique diagnosis. Knowing more about a particular rare disease and how you can support that child in a school setting may help you be better at your job.

4. Do you work in health care?

Those who are eventually diagnosed with a rare disease report that it takes on average 7.6 years in the U.S. and 5.6 years in the U.K. to receive a diagnosis. During that journey, on average they see eight physicians — four primary care and four specialists. Even if you are not a physician, imagine all the nurses they see in that process, all the waiting rooms they sit in. Some patients have even been directed toward a diagnosis by another family sitting in the waiting room. And for patients already diagnosed, health care can look very different. They often have multiple specialists, just for the symptoms of their rare disease. I believe awareness of and support for rare diseases is key for anyone working in health care.

5. Do you have health insurance?

Often the medications developed for rare diseases can be quite expensive. While rare disease medications are currently a small percentage of the overall health care spend, as more treatments are developed, the policies surrounding rare disease pricing become important to all of us, considering health insurance ratings and health policy in our respective countries.

6. Do you visit Dr. Google?

One in three Americans has gone online to figure out a medical condition. It could be an ear infection or toe fungus, but sometimes, it could be something more rare. Being aware that rare diseases do exist, of when to see a specialist, and when and how to connect the dots of seemingly unrelated symptoms to push for a diagnosis can shave years off the search for a rare disease diagnosis.

7. Do you have 10 friends?

If you’ve made it through the above and still none of them apply to you, you might just live on a solitary island in the Pacific. Since you’re reading this on the web, I’m guessing not, and I’m guessing you have at least 10 friends. If so, then chances are at least one friend in your life has a rare disease, or has a child, spouse or parent with a rare disease. One way to support that friend is to help them raise awareness on Rare Disease Day on February 29, 2016, or to fundraise in support of an organization for the disease that affects them; for example, through our “I Love Someone #Rare” campaign.

Rare Disease Day is our call to arms as a rare disease community. Join us.

i love someone rare t shirt
“I Love Someone #Rare” t-shirt.

This post originally appeared on Saving CaseFollow this journey on My unPlanned Son.

The Mighty is asking the following: Create a list-style story of your choice in regards to disability, disease or illness. It can be lighthearted and funny or more serious — whatever inspires you. Be sure to include at least one intro paragraph for your list. 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 Submit a Story page for more about our submission guidelines. 

5k
5k

RELATED VIDEOS

TOPICS
, , Contributor list
JOIN THE CONVERSATION

A Mom in the Waiting Room Told Me One Thing Genetic Testing Is Not

872
872

It was mere weeks after Ethan’s diagnosis of Hunter syndrome when I was asked to come in to speak with a genetic counselor and to have my blood taken. My blood test would determine whether or not I had given Ethan a rare genetic syndrome. I hadn’t thought much about how that would make me feel.

I sat watching parents and children being summoned one by one. A woman sat beside me. I smiled as I accidently caught her eye.

“Blood?” she casually asked. I nodded.

“Ah, been there, hate needles. I haven’t seen you here before. Am I right to assume it’s the genetics department you’ve got to go into?” I nodded as she continued, “I’ve got to go in there. I’m getting genetic counseling, ha! I never knew such a thing existed until…” her voice trailed off.

“Oh.” I looked at her. Maybe she could explain what exactly “genetic counseling” was because no one had explained it to me.

She took my “Oh” and ran with it. “My son has a genetic syndrome and…”

I turned my whole body towards this woman, hoping her next words would be “It is called Hunter syndrome.”

“What is it?” I blurted out.

She looked right at me. “Hurler syndrome. We found out when our son was born. He’s now 3. He had to have a bone marrow transplant but he is doing well now, thank God,” she smiled, not a happy smile, not a wide smile, just a smile. The smile I was getting used to showing in public.

“I’m sorry, I’ve never heard of that syndrome.” I mirrored her smile.

“It is also known as mucopolysaccharidoses (MPS) type 1,” she added.

“There’s a type 1!!!” I exclaimed.

Her eyes narrowed. “Has your child got MPS?”

I nodded. “Hunter syndrome. I had no idea there were more. Wow.”

She tilted her head. “There are seven roughly. I am so sorry. Hunter is type 2, isn’t it?” She bit her lip.

“Yes, that’s the one…are the syndromes all the same or are they very different?” I asked.
She paused. Clearing her throat she quietly, she said, “None have cures …but yes, from my knowledge the [more serious] types are those with brain involvement.” She looked around the room. Her eyes fell back to me and she continued, “I know what your next question is and I am not a doctor. I don’t know.” She patted my lap.

“My son could have brain involvement. He has had problems with his development. They told us it could be a phase, is it? Or is it more likely to be the syndrome?” The words exploded from my dry mouth.

She shifted her weight in the seat, picked up her bag, then put it back on the ground before she answered me. “I honestly don’t know much about Hunter, but I do know there is a forum on the Internet where you can speak to other parents. I’ll add you to it, if you give me your email address.”

I gave her my email address.

The receptionist called my name. I looked at the woman next to me and thanked her.

“Promise me no matter what the outcome is, you’ll connect with parents who have children with the same syndrome. They are the true experts.” She rubbed my shoulder.

“I am beginning to see that, thank you,” I smiled a genuine smile. “I was told there are only six other boys in Ireland, is that true?” I added while I gathered my coat and bag.

“No idea. But it is rare. I believe there are only 2,000 worldwide, but you can connect to a good few on the forum, I promise.” She stood up.

“Is your son’s the same then?” I blurted out, as I could see the receptionist was getting impatient.

“No, it isn’t as rare, and normally once they have the bone marrow transplant they have a good chance at an average life, but they need a bone marrow transplant to survive before 18 months… It is different for everyone.” She picked up her bag.

“Wow, thank God they knew then when he was born.” I was shocked.

“A history in the family…” She nodded towards the receptionist. “You’d better go, she is getting annoyed and I really need the loo,” she laughed.

“Sorry, yeah OK. Thank you though, so very much.” I threw my coat over my arm, and we both walked towards the receptionist.

“One more thing, the blood thing, the genetics testing and all that,” she said, waving her hand as though a fly was annoying her. She stood closer to me and whispered, “It is not a blame game …genetic testing is not a blame game.” She turned to the left pushed the toilet door open. “You will be OK.”

Taking a deep breath, I followed the somewhat annoyed receptionist in through the double doors and down to the genetic counselor’s office where my husband was waiting to greet me.

Weeks later I recalled this woman and her wise words as the genetic counselor told me that I was indeed the carrier of the “faulty” gene that gave my son a terminal, life-limiting condition.

I became a regular user on the forum.

I asked the real “experts” about Hunter syndrome and I learned and learned.

I was ready for our first ever trip to Temple Street Children’s University Hospital armed with knowledge and determination.

I pushed the guilt deep down inside. Ethan didn’t need a guilt-ridden mom, he needed a fighter.

Guilt — it never leaves you.

I believe parents are experts when it comes to their child’s condition; I don’t think you’ll ever find a doctor as honest, supportive or knowledgeable.

man and woman overlooking river
Ger and her husband

Follow this journey on It’s Me Ethan!

The Mighty is asking its readers the following: Describe the moment a stranger — or someone you don’t know very well — showed you or a loved one incredible love. 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.

872
872
TOPICS
JOIN THE CONVERSATION

Why I No Longer Pray for a Cure for My Son’s Terminal Condition

171
171

I am a parent of a child with a terminal condition called Hunter syndromeI no longer pray for a cure.

Terminal or life-limiting conditions give you a perspective, one that’s different to most and one you can’t really explain.

When do you stop looking for a cure or a breakthrough in medical research?

I spent years searching for the latest medical advances, and in 2011 we boarded a plane to Birmingham to take part in a new clinical trial for patients with Hunter syndrome.

We spent five days in Birmingham. Our son, Ethan, went through assessment after assessment. On paper, he was a suitable candidate.

We went back to our hotel room to discuss how we would afford the monthly trips to and from Birmingham, and how we could work our schedules so that our other son, J, wouldn’t be too upset with us. We even went as far as to decide which one of us took Ethan over for his first ever treatment.

The treatment scared us, but we danced around that and didn’t discuss it. Instead, we talked about hope — medical advances and all the other wonderful boys in America who were already on the trial. 

The trial: The drug Ethan is already receiving would be put into his brain, as currently it does not pass the blood-brain barrier naturally. They do this by first placing a port in Ethan. That alone has huge risks, as Ethan has a narrow airway, making intubating him a skill in itself.

Once the port is placed, the drug is injected into it, and a tube inside Ethan (which is attached to the port) then brings the drug into the spinal fluid, where it travels up the spine and into the brain. The hope is we would see stability in Ethan’s cognitive levels.

Again, this isn’t a cure, but it’s a way to keep Ethan from losing any further cognitive skills, plus his regular ERT (enzyme replacement therapy — so Ethan’s syndrome wouldn’t progress as fast.

We could have him in good health and cognitively well for a lot longer.

Imagine what it could do for a child who was only a few months old living with Hunter’s?

We sat with the doctor early the next morning. We were getting ready to do Ethan’s final test and the one test we were frightened of: a lumbar puncture.

The doctor straightened his papers on his desk, asked a nurse to take Ethan for a walk and invited two other nurses to sit with us.

He coughed.

I held my husband D’s hand as we watched him.

“Sit down please, guys.” He nodded at the chairs across from his desk.

I had flashbacks of Ethan’s diagnosis day; I knew this wasn’t going to be good.

“Do you want a cup of tea?” one of the nurses asked.

I shook my head as I stared at the doctor who was now scanning the top sheet of paper on his desk.

“Ethan has passed all our tests, as you both know.”

He coughed again. We nodded like bobble heads.

“I see here,” he glanced at the paper on his desk, “that Ethan had reactions to his ERT when he originally began treatment back in 2008.”

“Yeah,” I almost whispered.

“And Geraldine, I also see he has had a reaction as recently as eight months ago.” He swallowed, hard.

I felt my heart drop.

I was nervous about the trial and the risks and the travel and all the other things that came with it… but I never thought about not being part of it. It was a chance at life, a chance of Ethan living into adulthood with disabilities — it was going to give Ethan a fighting chance against Hunter syndrome, a condition that medical advances might still find a cure for.

D’s voice boomed me back into the room.

“So that’s it, is it?”

His voice bounced off every wall of the office. While one nurse rubbed my back, the other tried to explain to D exactly what the doctor was trying to say.

“We can’t be part of it, can we?” I asked. I felt my tears fall.

“Reactions are too risky. Eight months reaction-free is just not enough. We can’t put him through a lumbar puncture knowing he has had reactions; there would be no point.”

“Well, doc, I can’t lie. We had it all planned, we were very hopeful, you guys let us be! We knew there were risks, Jesus, but… but if…” I stopped D mid-sentence.

“One question, doctor… if he were your son?” I squeezed D’s hand. I looked at the wedding finger on the doctor’s hand. I saw his family picture on his desk. I needed to know what he would do as a father.

“Geraldine, D… if Ethan were my boy, I’d thank the doctor sitting in front of me, thank the staff at the hospital and I’d bring Ethan into the town center and enjoy your final day here in Birmingham.” He stood up, walked around to the front of his desk and placed his hands on his lap.

“If Ethan had a reaction, there is nothing any of us could do. It’s not like we can stop the infusion, like they have done with his regular ERT. This drug will go straight to his brain, a reaction will either take what he has left or kill him. So, my answer is: He is here, he is doing well; I’d bring him home.”

He stood up. Then knelt down by my legs.

“I am so very, very sorry.”

He was genuine; I could see he was sorry.

I wiped my eyes while D thanked them all, then we took Ethan and went straight to another Hunter family in Birmingham.

And that was when I stopped researching, stopped hoping for a cure (for Ethan, in his lifetime); I began to “live.”

I don’t keep up to date on the trial, which is still ongoing, but I do know it is successful and there is huge hope for an actual cure. I know money is a huge issue, as research and trials all cost money. That upsets me; money shouldn’t be an issue when there are lives on the line. 

Will Ethan be offered the drug if it becomes standard treatment for Hunter syndrome?

That I don’t know. I don’t think about that. I can’t live with ifs and buts — I need to be able to live.

But what I do know is that it will become standard treatment (eventually), meaning those younger boys or newborn boys will have a better chance at an average life than they do now.

Hope is alive and well. I do believe with every fiber of my being that they will find a cure; I just don’t believe our 13-year-old boy will be here to benefit from it. That is not fair or even remotely OK. It will come too late for many, but for many it will indeed save them from watching their child die, and that is the hope that brings me to where I am today.

Yes, I do have hope and faith in medical advances and the ongoing trials. I just don’t research them anymore. I am learning to live, laugh and love.

If you would like to know more about the current research into Hunter syndrome, please stop by and say hello to all of us at Project Alive.

A version of this post originally appeared on Firefly Friends.

171
171
JOIN THE CONVERSATION

The Honest Reality of Living With a Life-Limiting Condition

77
77

After my son, Ethan, was diagnosed, I spent a huge amount of time Googling Hunter syndrome.

I felt I had no option but to Google as the doctor simply told us, “Go home, enjoy him, you won’t have him for a long time” no one should ever have to hear that sentence about their child. But we heard it, and I choose to ignore it for a very long time. Even today, seven years later, I still ignore that sentence when we speak to specialists about Ethan and how his syndrome is progressing. It is by far much easier to type it.

Today, the specialists don’t say that particular sentence, but they do say sentences that send me into an anxiety-fueled panic. They tend to remind me that “Ethan is doing OK, but there will be a point where the infusions (ERT) won’t work anymore. You must be ready for that day, Geraldine. As you know, ERT is not a cure, it is simply a way to slow down the progression of the syndrome.” I hate that sentence. While I do understand why they have to say it, it stills brings my heart rate up, forcing blood rapidly through my tired body. Ethan is not even close to having his infusions stopped; that is what gives me hope, comfort and eases my pain.

I put that sentence, along with the one we were told on his diagnosis day, into a box and I lock it. I keep the box in my head and as far away as possible from my heart. I can’t bear to even discuss what we would like to happen when Ethan becomes that unwell. And that is how I cope with raising a child who is terminally ill.

I only joined Facebook to find more families like ours. There aren’t many, and I talk to roughly 100 or so. I see my life being lived thousands of miles away. I’ve connected with some families simply because their son has the severe form of Hunter’s, just like Ethan. I check up on all my other boys, read their Facebook pages, comment on their videos, pictures or their posts. We laugh at our poo stories or our temper stories — we bond. When I read about how unwell they are, I feel like scrolling past. I find it so hard to read it. I find it hard to read the posts about “end of life care” or that “ERT is no longer an option,” but I must read them. I must support them because one day I know it will be me. I will be the one online, begging these parents to hear me, to read my pain and to connect with me.

I’ve been friends with a certain family since 2009. I’ve never met this family in person. I felt drawn to them as soon as I saw a picture of their wonderful little man, T. T is one year older than Ethan. T has a big little brother, too, just like Ethan. T has the severe form of Hunter’s just like Ethan, and T spoke like Ethan, played like Ethan, walked and laughed just like Ethan. When I “met” this family, T was doing well. Yes, he was losing skills, but like Ethan, he was replacing some of the skills he lost with new ones. T was very much holding his own against Hunter syndrome. But recently, T is not doing too well. That is putting it mildly.

I froze as I read his mommy’s update. “Hospice”… “Regression”… All the words that force the box I keep locked to pop right open. In what world is it normal to have a Facebook thread about end of life care for a 14-year-old boy? But it is normal in my world. Underneath her heartbreaking post were hundreds of comments offering support, stating that hospice care can be used to ease the transition… words I can’t even type. She updated saying that T was refused hospice care, as he was not sick enough. She was delighted. Imagine being delighted your child doesn’t need hospice care (yet) but actually having to go and check if it was time for hospice services. I don’t know how she did that. How she (and her wonderful husband) went through all that and still had positives to share on her Facebook page.

I know, more than most, that a strength you never knew you had will overcome you, and you will get through things you could have never seen coming. I simply can’t imagine; fear keeps me from imagining. And I am all too aware about what’s coming.

Light a candle for T and his family, pray, send good vibes — whatever you can do, please do it. Kiss your wonderful, grumpy teenagers. Let them know they are special, because they are. Because no one tells you the honest reality of living with a terminal, life-limiting condition — not even the doctors.

two brothers outdoors

Follow this journey on It’s Me Ethan.

77
77
JOIN THE CONVERSATION

When 'How Old Is He?' Isn't a Straightforward Question for a Parent

2k
2k

“How old is he?” you ask at the gym session we both go to.

I always thought that was a straightforward question with an obvious answer. But then my youngest came along.

Now whenever I get asked that question, I hesitate. What do I say? “He’s 3, but…”

I’m not sure when I really started to worry. It was a gradual thing, I suppose. He sat up a little later than some babies, but that was fine. He didn’t crawl until 11 and a half months; I was just grateful that he would still stay where I left him so I could chase the other one. Walking was at 18 months. But there were so many other little things. With my first, I would read the books avidly every month and crow at all the things he had ticked off before time. With my youngest, I gave up as he never did any of the things he was “supposed” to by a certain age. But some children just do things a bit later, don’t they?

“He’s 3, but his understanding is limited.” So when I ask him to do something and he runs off instead, he isn’t being as naughty as you think, it’s just that he doesn’t understand.

“He’s 3, but he’s bigger than a lot of 4-year-olds.” So when he pushes your daughter out of the way to reach his ball, believe me, I’m watching him even closer than you are. I’m very aware that he might hurt her, but I know he won’t intend to.

‘He’s 3, but he’s got…” And there it is, I just can’t say those words. Developmental delay. Additional needs. That’s what they are saying in all these appointments we’re having now. Speech and language, exploratory play, coarse features, portage, Specialist Early Years: I’m having to learn a whole new language myself. Of course I understand what they are saying, and how important it is to ensure he gets the support he needs. But when it comes down to it, I look at his chubby, grinning, open, wonderful little face and can’t bear to label him like that.

He is progressing all the time, and I’m overjoyed at each new thing: walking upstairs by himself, doing an action to a song and saying “moo” when seeing a cow have all been major achievements lately, and I’m so proud of them.

But the reality is beginning to sink in.

I’m afraid about what will happen when I’m not able to watch him every minute, that he’ll be rejected by other children in the school playground for not knowing “the rules.”

I’m envious when I see your 2-year-old trot happily along next to you on the school run. I tried it once — he spent half the time trying to run in the wrong direction, and the rest lying down in protest when I wouldn’t let him. I had to carry him in the end, which is no easy matter — he’s over a third of my weight now.

And worst of all is guilt. Believe me, I’m a past master at the guilt thing — most mothers are. I went through all the normal ones with my first. Was I right to give him a pacifier? Will it hurt him if he has the occasional bottle? Should I really let him watch that much TV? But they pale into insignificance compared to my latest ones. I feel guilty that I often get bored spending time with my own child. I feel guilty that sometimes I wish he was more like his overachieving brother. I feel guilty that I look forward to the mornings I leave him at preschool. And worst of all, I feel guilty that maybe it was me that did this to him — that my ancient, worn-out eggs have failed him somehow.

But as when all the evils of the world came pouring out of Pandora’s Box, at the bottom there lay hope. We don’t know what the future will hold. Sure, the gap between him and his peers may widen, but there is also the possibility that it will narrow.

Sometimes I have to remind myself to keep hold of that hope and cherish it. Why? Because of love.

Love for my boy whose smile lights up my world. Love for my boy who, after I’ve been away for half an hour, greets me as if it was a year. Love for my curly-haired, freckle-faced boy who will chat happily to anyone and anything. My little Pudding, amazing and unique just the way he is.

Which is why I need to relearn the answer to that question.

“How old is your son?”

“He’s 3. How about yours?”

Follow this journey on A Hunter’s Life – Learning to Live With MPS II.

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.

2k
2k
TOPICS
,
JOIN THE CONVERSATION

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

500
500

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.

500
500
JOIN THE CONVERSATION

Real People. Real Stories.

7,000
CONTRIBUTORS
150 Million
READERS

We face disability, disease and mental illness together.