Woman writing in notepad at wooden table

Why Accepting My Son's Rare Diagnosis Helped Me Discover My Life's Passion

After having three children in three years, I thought my life’s plan was pretty well outlined. And I was pretty happy about it, in between the diapers, screaming toddlers and late night laundry.

My husband, my three boys (and maybe, just one more…) and I would grow up, laughing and running, teaching and learning. Living life.

The problem with that was — I wanted to live the life I expected.

Two years later, I was driving more than 90 miles an hour. Medians, guardrails, they flashed by me one after another. I didn’t really notice, other than the split second thought that if I ran into one, the pain would stop. The pain that was literally ripping my heart out of my chest.

My child was going to die. A rare disease called Hunter Syndrome would take his life. It might as well take mine.

The thought didn’t sprout legs and grow. I didn’t become best friends with Self Pity, but I did sit at her table quite often, lingering over a glass of “woe is me” and a heaping plate of hopelessness.

She was a bitter companion.

Sometimes other friends would join us, friends also affected by rare diseases and special needs, stolen hope and impending loss — with children healthy one day, then dying the next.

We shared a commonality – our lives felt “stolen.” The lives we thought we would have.

We didn’t necessarily agree about who had “stolen” it. Some thought it was God, others thought Fate. Still, others thought it was the pesticides or the additives.

It didn’t really matter. Blame wouldn’t change it. But Self Pity was more than happy to talk about all the possibilities of whose fault it was.

But as we sat there, sometimes we’d glance at those milling about, not joining us at our buffet with Self Pity. Some had sat with us for a time and now had moved on.

They were different. Their personalities were different. Their lives were different.

Eventually, we outgrew the table. We had to intentionally extricate ourselves from conversations with Self Pity.

We stood up. We looked at our new lives. And decided to live them.


Yes, they looked different. They might have greater highs and deeper lows. But they were ours.

Part of this changed life was the joy and comfort I found in writing. I never considered myself a writer, but it’s funny how reflection happens over time.

I’ve been writing all my life. From “books” in middle school, to essays in high school, papers in college and briefs in law school, briefs and legal opinions as a law clerk, teaching legal writing as a lawyer and writing music for my children as part of momentous (both happy and traumatic) times in my life.

Except for the music, all that writing had been about someone else.

My son Case’s diagnosis in 2009 and his enrollment in the clinical trial in 2010 generated such emotions that I felt I would burst if I didn’t write about it on a blog that later became the website of our foundation. Much of it was just informative – how to get a wheelchair approved, what is a sensory diet, how the trial was going. Although I shared our story and my perspective, most of the very personal, emotionally raw words still sat in drafts, read only by me.

Maybe that’s how it should be, I’ve always thought.

But maybe not.

In the last year, I’ve acknowledged something I feared to say before. Because when we say we love something, I feel we are at the whim of it being stolen. When we say we want something, I feel we are at the whim of our own illusion. When we declare a goal, we are often subject to the fears of failure and criticism, accusations of exhibitionism and narcissism. I hate “-isms.”

So here we go.

I love to write. I love to blog. I love to write music. I love to create things that express the emotions I cannot otherwise express, and I hope, that reflect emotions others share but find difficulty expressing themselves.

I love to bring joy to others with what I write. Or bring tears because the reader can relate. Or laughter because our life might seem so incredibly ridiculous at times.

I once was a lawyer. Or at least my business card said so.

I’ll always be an advocate. My child needs it to be so.

But I’m now a writer too.

If you know me, maybe you’re saying, “But Melissa, I’ve thought you’ve been writing for a long time?”


But writing was always an adjunct to everything else. A legal writer. A rare disease writer.

Of course, all of that will still be part of my writing. And my advocacy work goes hand in hand.

But I’m finally embracing being a writer, about all of my topics, whether it’s about my rare disease, parenting a child with special needs, faith, Hunter Syndrome, writing about writing (so meta), or songwriting.

Maybe it will be too eclectic for some. Too boring for others. But I’m okay with that.

I hope that you will join me for the ride. And I just love to write about it.

Has a diagnosis changed your life, career, or goals?

A version of this post originally appeared on Melissa Hogan


When a Special Needs Parent Asked Me If She Should Seek a Diagnosis

None of us want to be labeled. We’re individuals and want to be treated us such, and rightly so. But is it always something that we should be scared of or avoid? Calling me a white, British stay-at-home mother, for instance, only scratches the surface of what I’m all about, but those labels are still true. They don’t define me, but neither should I reject them entirely.

Of course, there are times when labeling others is much more contentious. While there are parents who have fought for years to get a diagnosis and may never find one, when it comes to delays in any developmental areas, some parents can be nervous about seeing their children put in a box and confined to a narrow description. Recently someone on a special needs Facebook group that I’m a member of, posted to ask whether they should seek a diagnosis for their child or not. I answered with a resounding “yes,” and these are my reasons why:

1. It avoids other labels.

As much as we might not want our kids to be limited by a label, sometimes it is better than the alternative. My son had the opportunity to start at the local school’s nursery last September, but we had to make the decision back in May. This was before we got his diagnosis, and before we had a My Support Plan (non-statutory document identifying special educational needs) in place. I worried the move from his current pre-school to a smaller room with more children could lead to an increase of his more challenging behaviors — pushing, throwing hitting. I didn’t want him to start out on his school career being labeled as a “problem child,”or “that boy who hits me all the time” or “the naughty one.”

Now that he has been diagnosed with Mucopolysaccharidoses (MPS), it is accepted that his behavior is a result of his condition. I’m now looking forward to him starting in mainstream school full-time in September knowing that other children, parents and teachers will be able to approach him with more understanding.

2. It makes getting support easier.


In theory, support in education, health and other areas should be available for everyone who needs it according to their symptoms and presentation. However, as anyone reading some of the many excellent posts written for Undiagnosed Children’s Day last month will have realized, not having a diagnosis can make accessing support so much more difficult. Hopefully things are moving in the right direction now, but unfortunately it’s still easier to jump into a box in order to get help. And heaven knows, sometimes we really need that help.

3. It can be a lifesaver.

Yes, this is my main reason. When I first tried to get some answers about my son’s delays, I was told that he had no problems and shouldn’t worry. But, I knew he looked a little bit different from his peers and was falling further behind. I tried again and again, and eventually got an appointment with a pediatrician who had more knowledge and understanding of genetic disorders.

The fact is, many rare diseases are first misdiagnosed as other conditions or masked by concurrent problems. I’ve heard of other boys with Hunter Syndrome (MPS II) like my son who have gone for years being told their issues are due to autism, or hearing problems or Crohn’s. These are years when their bodies were being progressively destroyed by the build up of waste products, years when they could have been receiving treatment to halt those symptoms.

Not all rare diseases have treatments yet and most have no cure, but new clinical trials are coming online all the time. My son is on one now, and if his diagnosis had come any later, it is unlikely that he would have made it through the assessment criteria. If this new drug works, it will indeed save his life.

I very much hope your precious child will not receive the diagnosis of a life-threatening disorder such as MPS. But, I would say follow your instincts. If you think there may possibly be reasons behind their delays, it is worth looking into. Although I never expected a label as scary as genetic, progressive and life-limiting, I am so glad we found out now rather than when it was too late.

MPS Awareness Day is May 15.

The Mighty is asking the following: What’s one thing people might not know about your experience with disability, disease or mental illness, 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 Submit a Story page for more about our submission guidelines.

To the People Who Say They’re Sorry When I Tell Them My Son Has Hunter Syndrome

I have had plenty of friends and strangers tell me they don’t know what to say when I tell them about my son Ethan.

boy wearing baseball cap and smiling
Ger’s son, Ethan.

I take a deep breath.

I see you’re waiting for my answer.

My palms begin to sweat.

I really don’t know how to say it without stunning you, the person who has asked me about my other children.

And I know what it is like to hear something you’re not expecting.

I remember talking to a mother outside a children’s ward. We were having a nice chat about the weather, the inconvenience of parking in the hospital, and then I asked, “How many children do you have at home?”

The mother’s voice wobbled as she told me she had three, two at home and one had passed away. I was not expecting her to say that.

What could I have said? I knew I couldn’t make it any better. I felt such deep empathy for her. I said the same thing 99 percent of the population would probably say: “I am so, so sorry.”

She nodded as silence fell heavy between us.

I stood watching porters, nurses and doctors rushing in and out of the ward. I was panicking in my mind. What do I say now? Have I upset her?


“I am sorry,” I repeated as our eyes locked again. “What is your child’s name?” I felt my head automatically tilt to one side.

We stood talking about her wonderful, funny, bright daughter Sarah. She told me of Sarah’s sense of humor, her love of animals and how great she was with her younger siblings. I smiled as this heartbroken mother became full of life talking about her Sarah.

I tried to hide my shock, sympathy and pity from her; I couldn’t understand how this mother was smiling and full of conversation about her daughter who had lost her life to cancer. We spoke for about half an hour. She asked me about my children, and back then I was only at the hospital because my eldest son needed grommets. I felt bad — guilty even — telling her my two boys were otherwise healthy.

She smiled and told me her youngest was in getting his appendix out. “Thank you,” she rubbed my arm as she got ready to go back in to her son. “Thank you for telling me all about your Sarah,” I felt a lump in my throat but pushed it down.

“Thank you so much for asking about Sarah and not the cancer.” She walked back into the hospital, and I never saw her again.

That day and that conversation have stayed with me for many years. The strength that mother had was incredible.

I didn’t know it then, but I would soon have to find her strength.

boy wearing costume and wig
Ethan dressed up.

I didn’t know that “head tilt,” that “pity” and that “I’m sorry” would be things many strangers would do in my presence.

Shortly after that hospital visit, my eldest son Ethan was diagnosed with a terminal rare disease called Hunter syndrome, a progressive syndrome that would, in time, leave him unable to walk, talk, eat and communicate. If he saw adulthood, he would need the same level of care as a baby.

How do I say all that when I am asked about my children?

Like every parent, I want to talk about my greatest joy — my boys. My three wonderful boys.

I don’t want to upset, educate and lecture other parents who have simply asked an everyday question. I take my time when asked about my children.

I still get a bit nervous — nervous that I am going to stun and shock.

I have three boys, Ethan, who is almost 14; J, who is 11; and a dictating toddler D, who is 2 and a half (that half is very important to him).

We laugh when I say that. Then comes the usual and fair observation, “Wow, you’ve a houseful; I bet the older two are a great help to you, especially the 14-year-old. He must be a great sitter.”

I am not going to lie or mislead about my children, but if this is said to me as a parent is leaving, I normally just smile and nod. But if the parent is sitting beside me and watching both our toddlers play, I feel compelled to correct that assumption.

I take a deep breath and respond, “Not so much, no. My almost-14-year-old has disabilities, and my 11-year-old has ADHD — so not babysitters.”

I tend to make eye contact with the person asking me the question at this point; I don’t know what I am looking for in that moment — acceptance, understanding, an interest, questions.

“Oh right, what disability does your son have?”

“He has Hunter syndrome.”

I know they will likely have never heard of it. I wait all the same for them to state that and ask, as I prepare myself for telling them what it is.

It isn’t easy for me to say it; my heart beats a little faster each and every time I’m asked. I take a second to think, is there a better way to say it?

“Oh, can’t say I’ve heard of it. ADHD I’ve heard of. What’s Hunter syndrome? Is it like Down syndrome or something like it?”

And so I explain that it is a terminal condition, which currently has no cure. I explain that I have to watch my son regress through his life rather than progress.

I explain that Down syndrome and Hunter syndrome have one thing in common: They are both syndromes, meaning you can see the syndrome in comparison to the likes of ADHD, which you often cannot see.

An awkward silence hangs in the air, one to which I’ve become accustomed.

“Jesus, I am so, so sorry.” I am not surprised by this response at all; it’s very common and very understandable.

Of course you feel sorry; you’re human, you’re thankful it isn’t your child, but you are genuinely sorry that it is another mother’s child.

I am sure that sorry is a mixture of empathy and pity. I don’t feel any anger for you saying you are sorry. I’m sorry. I’m sorry my son is ill. I’m sorry my son has to live with such a cruel syndrome, and I’m sorry my family will be broken beyond repair.

“Me too,” is how I respond.

Here’s the tip: You’re sorry. You’ve already told me that, and I’ve responded. Please don’t stay silent. Please.

Ask me about my son.

Ask me his name.

Ask me what he enjoys.

Ask me what he is like.

Ask about Ethan first, the syndrome second.

I know you’re curious about a syndrome you’ve never heard of, but always, always put the person before the disability or illness.


As for the “I’m sorry” sentence, in my personal circumstances, it doesn’t bother me, simply because I am sorry, too.

What does bother me is that head tilt, one I was so used to doing before Ethan’s diagnosis.

It screams pity. I don’t want pity; I don’t write about my life and Ethan’s life for pity.

The confusing thing is empathy can often look like pity, and I am all too aware of that. When I get that head tilt along with the “I’m so sorry,” I often find myself remembering my encounter with that mother outside the children’s ward. My intentions were honest and full of empathy. I know what it is like to be the parent who wasn’t expecting such a devastating answer to a very average question.

I write to hopefully raise awareness of Hunter syndrome and rare conditions. I write to record all the wonderful things Ethan has done, has taught us and is still doing.

Ethan is almost 14; he still laughs, walks for short distances, talks with some words, cuddles us, kisses us, understands basic language and he still eats. He still tells me, “I lobe you.” In a world where no one is promised a tomorrow, I think we are doing quite well.

boy on couch holding balloon
Ethan holding a balloon.

So don’t feel too “sorry” for us.

We are very lucky to have a child like him and to be shown a world that has changed our perspectives on so many things. Yes, it is “sad,” but Ethan doesn’t need “sadness.” He needs love, laughter and to live his life to the best of his abilities.

I’d be lying if I said it’s an easy life, but I am trying my hardest to give Ethan and his brothers happy memories.

I cry. I scream. I am heartbroken; I didn’t know such heartbreak existed.

My boys don’t need to witness that, so I lock that away and talk about it to those who I know will understand.

Don’t most parents do the same thing with their worries? I am just like you, but different.

I want Ethan’s life on record because he is a gem, and who better to record it than me, his mammy?

Editor’s note: Any medical information included is based on a personal experience. For questions or concerns regarding health, please consult a doctor or medical professional.

A version of this post first appeared on Parent.co.

The Mighty is asking the following: Share a conversation you’ve had that changed the way you think about disability, disease or mental 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 Submit a Story page for more about our submission guidelines.

To Myself Before I Found Hope After My Son’s Hunter Syndrome Diagnosis

On a sunny day in April 2009, I knelt on the steps to my basement and wept uncontrollably. Not the delicate tears of sorrow, but the full-body, ugly sobs that come from a grief deeper and blacker than the ocean.

It was the first day I had heard the words “Hunter syndrome” and knew they applied to my then 2-year-old son. It meant he would lose all he knew, all he could do and then he would die. From that instant, there was no going back, no erasing the knowledge that was collapsing our world and stealing even the breath within me.

It is now six years later, and there are conversations I wish I could have had with myself, comforts I could have offered, insights I could have given. This is my plain and simple effort to go back in time.

Dear Before Me,

You don’t realize you’re living in the “before.” That’s OK. In fact, that’s wonderful.

Life is beautiful right now. Busy, but beautiful. Your children are always moving, laughing, fighting, running, pulling on you and hugging you.

People say they’ll probably be football players, like their daddy. It makes you smile. Don’t lose the hope of what they might become when the future doesn’t seem so sure.

I see how you’re just now ready to take a breath — having three boys in three years is tiring, but now they’re all finally past babyhood, and you’re looking forward to watching their personalities blossom. It seems like they learn something new every day.

But I also see you’re starting to wonder if there’s something more going on with your youngest son. The few little things here and there just keep coming, and life is getting a little more challenging.

I know you have no expectation of what is to come. But I do.

I know about the day when you open your computer and first Google a condition you’ve never heard of. I know you’ll sit there for hours upon hours, reading, making notes, crying, watching videos, not believing those moments are really happening.

Not yet realizing that the before is no longer. This is the nether-time. Time suspended. Over the next few days, you will live through the most trying days of your life — days that will forever split your life into two parts.


So before you enter the after, I’d like to offer some advice.

1. Grieve.

I know you will question how you could feel this horrible when your child is still alive. You will rock between utter despair and sorrow to shame over such massive grief. Do not be ashamed of your grief. Recognize you are losing something precious — the life you thought you’d have, the life you thought your child would have. Those are real losses. Grieve and cry and rail and scream and fall limp on the floor if you need to.

Some days you will have to pretend to be “normal,” and you will hide your grief in the car. In the shower. Under the covers. Slowly, ever so slowly, the pretending will be replaced by a new “normal,” but it’s still OK to grieve new losses as they come.

2. Compare for now, then don’t.

Right now, you’re probably wondering whether it would have been better or worse if he had been diagnosed with something else.

That is normal. You don’t have to decide whether those would have been better or worse. But know as bad as this feels, remember there are definitely things that are worse. He is alive. He still has time. You have time.

You have time to cherish him. To love him. To change your priorities so you focus on the things that really matter in life, including celebrating every smile, laugh and hug. You have time to look your children, husband and other family members in the eyes every time you see them and tell them you love them. To never leave important things unsaid.

But as you move forward in this new life, don’t compare him with other children. He is quite unique. Your journey will be different than it would have been. It may be different than the journey of the mom who is bragging about her child’s honor roll, varsity letter, prom or girlfriend. The fire will burn away many things not central to survival, health and love. That is OK. It leaves more time for the important things.

3. It’s OK that this feels like too much for you to handle.

That’s because it is. No parent should have to watch their child lose the ability to talk, learn, play, eat, walk or laugh. No parent should have to live for years in the expectation of burying their child. This is entirely too much.

Just like four miscarriages felt like too much, just like watching your oldest have a 10-minute seizure felt like too much — but you survived. Each of these events was merely a primer for your heart, your faith and your dependence on a God who you believe works all things for your good.

Live in the expectation of heaven instead of the expectation of death.

4. Find your person.

Many people will soon surround you and do their very best to support you. Don’t be afraid to ask for their help.

But don’t get angry when they say the wrong thing or can’t truly understand. This experience is so extraordinary that you have to live it to truly understand. Find that person you can cry, celebrate and commiserate with. It will help your child, and it will help you. You will be dragon moms together.

5. Don’t give up hope.

I know right now it feels like your life is over. And the things you read tell you what will happen to your son. Don’t believe them. They do not tell the whole story of him. Have hope that a cure could be found. But even more, even more, have hope that your life will eventually be good again. That you will find purpose. That he will touch the lives of so many people in his path. That he will be so much more than this disease.

It will take a long time for the diagnosis to sink in. You will wake up many mornings and mourn all over again, because you’ll realize it’s not a dream or a nightmare — it’s reality.

You’ll stare at people going about their lives and want to scream at them about the pointlessness of the things they’re doing or talking about. Don’t be angry with them. They are living in the before. Or maybe they too are in the after, but they’ve found their hope again. You will, too.

There will be good days and bad.

But when you’re at your lowest, remember you were given this precious child.

And he was given you.


Dragon Mom (future you)

three young boys sitting together
Melissa’s three boys.

A version of this post originally appeared on Saving Case & Friends.

The Mighty is asking the following: Write a letter to yourself on the day of the diagnosis. 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.

It Took Almost 6 Years to Get My Child’s Rare Disease Diagnosis

Many people have no idea that February 29 is Rare Disease Day.

The last day of February is and has been Rare Disease Day (in Ireland) since 2008.

That is the same year my son, Ethan, was diagnosed with a rare disease called Hunter syndrome.

It is estimated that there are about 7,000 identified rare diseases — that ain’t so rare, is it?

Alone we are indeed rare, but together we are strong. Ethan is one of those thousands of people living with a rare condition.

There are eight other children I know of living in Ireland with Hunter syndrome.

Getting a rare diagnosis in our wonderful country took us five years and 10 months exactly. Five years and 10 months is a long time to spend telling doctors and specialists that something “more” was going on with our firstborn beautiful Ethan.

Doctors and specialists alike gave us so many many diagnoses over the years. They were also never shy of telling me how wrong I was…

“Over-anxious mother.”
“He will grow out of it.”
“You are overreacting, a lot of babies get sick easily.”

Then came words and letters I didn’t understand, throughout our almost six-year search:

“Global developmental delay (GDD)”
“Sensory processing disorder (SPD)”
“Hearing loss”
“Weak immune system”
“Oppositional defiant disorder (ODD)”
“Attention-deficit/hyperactivity disorder (ADHD)”

From 18 months old, Ethan was losing skills. Each time we got another “diagnosis,” I felt it wasn’t quite right. How can a child go from walking, talking and engaging to withdrawn, forgetful and unbalanced while walking?

Some of the conditions that were thrown around as a form of explanation did “fit” to some degree. Autism, yep that made sense, but then it didn’t. Hearing loss did explain loss of language skills and the off-balance walking, but then it didn’t.

Ethan had four sets of grommets; he still continued to lose speech and his balance didn’t improve. In fact, it got worse.

Ethan was receiving therapies from occupational therapy to speech and language therapy and everything in between… but he was still losing skills. He was picking up new skills but losing old skills.

One day in March 2008, I simply refused to let Ethan undergo yet another surgery to replace his grommets. I begged for the ear, nose and throat specialist to listen to me. He stood his ground and informed me Ethan was to have his surgery today and that I was causing a huge deal down in the operating room.


I stood my ground, like my father taught me. “When you know you are right, you stand your ground, Mac…” I heard my father voice. I refused to sign anything. I demanded to see a pediatrician.

And so an hour later, the pediatrician listened to me, he really listened. I showed him Ethan’s curled-up fingers, his round little belly, how Ethan toe-walked, how even his hair felt different.

A month later, that same pediatrician sat across from us and explained that all these other diagnoses were symptoms. They were symptoms of a much more harrowing diagnosis which would cut our son’s life short.

Our son had a rare disease called Hunter syndrome. It only affects one in 100,000 to one in 150,000 people in the whole wide world.

“There is no cure. Go home and love him.”

Ethan receives a man-made version of the enzyme his body is missing every week. He began his enzyme replacement therapy (ERT) in September 2008. This is not a cure but, and it is a huge but, it does slow down the progression of the disease. It does not cross the blood-brain barrier, meaning cognitively speaking Ethan will still regress as if he had no ERT. The ERT helps his body, not his mind.

But due to days like Rare Disease Day and International MPS Day (Hunter syndrome is also medically known as MPS type 2) on May 15, awareness campaigns have brought interest to diseases like Hunter syndrome and have helped fund active research into a possible cure.

There is an awful lot of hope and research that one day soon, when another parent faces this path, the diagnosing doctor will not only recognize the early symptoms of Hunter syndrome but will say, “Your child has Hunter syndrome. He will need this treatment to give him as fair a chance at life as any other kid.”

Wouldn’t that be wonderful?

Rare Disease Day is all about raising awareness amongst you and the general public, and hopefully raising awareness so our government and health care system do better when diagnosing and caring for those living with rare diseases.

A rare disease such as Hunter syndrome knows no race, religion, region or sex (we were told only boys have the syndrome, but the very first child we met with the syndrome was a girl). There does not have to be a history of it in the family; there is no person dead or alive in our families who ever had Hunter syndrome. A rare disease like Hunter syndrome can affect your friend, neighbor, family or child.

Help spread awareness this February 29. Tell somebody about the little wonderful boy called Ethan who you read about.

Thank you all so much!

This Rare Disease Day I will be taking any and all questions about Hunter syndrome over on It’s Me Ethan and we (our little family) will be wearing our “jeans for genes” with a splash of purple (which is the color for MPS). Maybe a few of you may join us?

young boy surrounded by leaves
Ger’s son Ethan

A version of this originally appeared on Family Friendly HQ.

The Mighty is asking the following: Tell us one thing your loved ones might not know about your experience with disability, disease or mental illness. 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 Submit a Story page for more about our submission guidelines.

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

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.

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