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

205
205
0

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.

Love,

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.

205
205
0

RELATED VIDEOS

JOIN THE CONVERSATION

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

355
355
0

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”
“Asthma”
“Oppositional defiant disorder (ODD)”
“Attention-deficit/hyperactivity disorder (ADHD)”
“Autism”
“Dwarfism”

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.

355
355
0
JOIN THE CONVERSATION

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

5k
5k
3

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
3
TOPICS
, , Contributor list
JOIN THE CONVERSATION

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

872
872
6

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
6
TOPICS
JOIN THE CONVERSATION

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

171
171
2

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
2
JOIN THE CONVERSATION

The Honest Reality of Living With a Life-Limiting Condition

77
77
3

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
3
JOIN THE CONVERSATION

Real People. Real Stories.

8,000
CONTRIBUTORS
150 Million
READERS

We face disability, disease and mental illness together.