Patients describe what #Rare is for them.


I’m part of a group of amazing parents and children; people bonded by diagnoses — most you’ve probably never heard of.

Many disabilities, differences and illnesses are not easy to identify in people we may know or meet.

In a world where kids think they have to keep their invisible differences hidden, we disagree. 

More than ever before, our world is polarized, separated and less accepting. Thus, we fight daily for awareness, inclusion and compassion.

We’re exhausted by people being ignored or judged because what makes them different isn’t visible at first glance.

If you ask the naysayers or look in history textbooks, they tell you what we’re trying to do is impossible.

So how do we make the impossible a reality?

Because we’re fighting against ignorance, we do things differently. We lead with empathy and education. We don’t have unlimited resources, so we rely on relationships to spread our movement. 


And it’s happening.

Every single day.

It’s happening through books, articles, television shows and films.

It’s happening on playgrounds, in grocery stores, in forward thinking businesses, places of worship and in classrooms.

Acceptance of invisible differences in growing.

We are winning. 

We believe our invisible differences are part of our lives, but they don’t define us.

We won’t stop until we change the world.

This is our manifesto.

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One weekend.

$32,000 in one weekend.

Anxious eyes scan from $32,000 to the bottom account balance you may owe. “This is not a bill” it says. But the weight has already jumped into your stomach. The statement is the harbinger of the bill, the great gust of wind that slams and bounces the screen door open and closed, a squeaking Paul Revere: the bill is coming, the bill is coming!

Yes, it was the 19th floor. No, not the penthouse. Yes, we had room service a couple times, but it wasn’t that kind of party; we didn’t want to be there. We don’t want this statement. It has my child’s name on it from the nearest children’s hospital. It has my name on it as the guarantor.

I swallowed hard, as my brain flashed to the annual salary listed in my very first job offer-letter 20 years ago. This is more. It is more than my brain can imagine for a bill. Not true, I have seen bigger, as memories of hospital sleepovers past dredge themselves up. Still, it jolts me to see a bill with that many numbers next to the two digit utility bill.

“You may owe $8500.” More than a vacation costs — we could buy a used car for that amount. A bill like that can do some major financial destruction. I jump to the computer, looking to see if it has been processed yet. I want to pray, but am unsure what exactly I am even asking. Will we owe that amount? Will it already be processed?

My child is still awaiting a full diagnosis and we have another test tomorrow and five more specialists to see. I don’t know if I have enough adrenaline left for this life. Could my heart please slow down?


One more click. The explanation of benefits file opens. I realize I wasn’t breathing. Deep breath. Out of pockets costs have been met. Congratulations self, you just went from a $32,000 statement, to a “may owe $8500,” to only owing $2800. Only. The statement did its job in managing my expectations, as now the coming bill seems a little less like doom.



But my gut still feels punched because all I can think about is how fast and easy it is for a family to lose footing over health bills. I’ve scanned news articles this year, trying not to be scared about what is happening in healthcare and government while I am up to my ears in caring for my own family. I am exhausted, I can’t write to every politician or dredge up energy to loudly protest. Not today, anyway. Today, I can barely get dinner made and yesterday’s dishes are still in the sink. And there are more, so many more families like mine, so many parents like me.

My husband gets home, and with the opposite of my panicked look, reminds me, as always, “It will be OK.” And this time, for us, it will be, somehow. I am grateful. I know I am lucky, privileged, blessed. But my heart still aches.

It aches for my own family and how illness impacts each of us. It aches for the other families I know, struggling with their own illnesses and bills.

It aches with a feeling of powerlessness, for all these things I cannot control, for the people I cannot help. Discouragement is a
mighty enemy. But this fight is far from over.

Hope is a powerful four letter word.

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After a lengthy legal battle, Charlie Gard, the U.K. infant whose parents fought for him to come to the U.S. for an experimental therapy, died on Friday.

Earlier this week, after months of petitioning multiple British and European courts, Gard’s parents, Chris Gard and Connie Yates, ended their petition after the U.S. physician reviewing Gard’s case said it is too late to give him the therapy.

According to The Guardian, Gard was moved to a children’s hospice center on Thursday and passed away on Friday.

As news of Charlie’s story spread earlier this month, Donald Trump and other U.S. politicians shared their support of the Gard family, offering to help coordinate treatment in the U.S.

The lawyer for the Gard family said Charlie’s family will set up a foundation in honor of their son.

I love celebrating special occasions. I’m a real “Hallmarks moment” kind of girl. Always have been and I suspect I always will be. Cakes, balloons, lots of presents and good food. I especially love making the person who is celebrating their special day feel like they are the most important and loved person in the world.

You would think though I would realize those days may be a bit beyond my reach now, wouldn’t you. Wouldn’t you?

I have a rare disease; my bones break spontaneously. I have two non-healing broken femurs and feet plus other bone-related issues. I also have rheumatoid arthritis and a permanent colostomy. Saying I’m a little limited in what I can do is a slight understatement.


Despite that, I apparently still think I can be a picture of perfect health and energy when it’s my husband’s birthday. He is so special to me that there is no way I am not going to make his day as extra special as possible.

Our first plan is always to go out for lunch, and we pretend in the lead up to his birthday we will be doing that. We pick the restaurant or cafe, check out the menu online and get excited. We do this knowing it most likely won’t be able to happen. The effort for me to get out will spoil the day. By the time I get to a cafe I’m so exhausted it’s hard to talk, let alone make it feel special for my husband.

We know that at least at home I can pace the day and have the energy to get through all I want to do for him. At home I can lie down for 10 minutes here and there whenever needed to recharge a little. I will be determined to make a great lunch with my husband as my kitchen hand. Instead of a restaurant we will sit in our courtyard and both agree it is the nicest café we have been in for ages…even if we do say so ourselves!!

We will eat way too much and my husband will open a special bottle of wine he had been saving for a special occasion. I won’t drink because of my medication but he will say it was fantastic. He always does!


After lunch we will watch a movie on DVD in our living room, in Gold Class style and drink coffee and eat more cake. It will be a really lovely day, it always is. Although it will just be the two of us and quiet in so many ways in comparison to what most people would consider a celebration, it will still be a “Hallmark moment” – no, actually it will be a “Hallmark day.”

If history repeats, the next day I won’t be able to move, and apart from the physical pain, I will be struggling with unbelievable exhaustion. All from doing so little. I’ll remind myself it was worth every moment and I will definitely be gearing up same time next year to do it all again for the man I love so much and who cares for me so beautifully every single day!

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Thinkstock photo via nyul.

Imagine countless trips to the doctors and hospitals just to be told there were no answers as to why the symptoms were occurring and sent home with a handful of referrals being passed between medical professionals like an envelope with no return address. Then imagine, this is your child and all the specialists you have been referred to have no answers. You have hit a roadblock, but as mothers we know when something’s wrong, and we will persist until we have an answer.

Finally you were given an answer; you were told this was a rare genetic condition but no one knew how to diagnosis it. All the symptoms were not related to this genetic condition, and furthermore there is no established “clinical term” for it. What would you do? Where would you go next?

I am a mother. I am not perfect. I have shouted. I have lost my temper and occasionally I need time-out.

I am me. I laugh at things I probably should not. I have felt loss, I have felt pain, I have climbed mountains and tripped over life time and time again.

I have lived through a divorce and have learned to love again.

I have been woken up, I have been pushed down and pushed up, I have thrown up, I have lived up and shut up — but I have never ever given up.

I will not let the unknown scare me. I will continue to climb and soar through life’s challenges. I am a fighter, a fierce worrier. I am me.

I have four children all uniquely special — a 4-year-old son, 5-year-old daughter, 6-year-old son and 7-year-old son.

My 6-year-old has a rare genetic condition 2p16.3 microdeletion — deletions at 2p16.3 involving exons of NRXN1 are associated with autism, schizophrenia (SCZD17), developmental delay, intellectual disability, and dysmorphic features.

My son has minor scoliosis, spinal bifida (the MRI could not pick up spinal bifida at the S1; this can only be seen on an x-ray), generalized weakness, hypertonia/hypermobility (upper and lower limbs), reduced muscle mass, back pain, speech sound disorder, swallowing difficulties, motor coordination problems/dyspraxia, fatigue, poor weight gain, mild gait, posture/balance problems, skin tags at the base of his spine, difficulties with core stability, ADHD and seizures.


Whether he has outgrown some of the above or it’s showing in a different way or being misdiagnosed is unknown. Through these challenges in life and the times when I felt lost and had no idea how to keep moving forward, I did… we did… we are and still are. We gain the power to have an unstoppable mindset.

The first time I held him, I felt a feeling deep inside something was off. I called for the doctor, who checked his breathing but affirmed he was fine. He said to brush off my worries. A mother’s instinct burst out and showed its true force in the form a fighter with extreme superhero strength, voice and abilities.

Ten minutes later I demanded an x-ray, to which I was advised against. However its results showed my son had a hole in his lung, which required him to be in a special care unit for five days until he recovered.

From this point in time, between endless medical visits, facing a broken marriage, studying, working, becoming a single mum, going through family court, finding love, new marriage and every other struggle in this journey called life, my story has become richer and fuller.

We all go face struggles, but we all get to choose how we respond. You are a living testament, standing proof of the human potential. Never underestimate the power of a mother’s love.

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Thinkstock photo by Koldunov

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We face disability, disease and mental illness together.