IN HONOR OF WORLD RARE DISEASE AND DISORDER DAY 02-29-24

#worldrarediseaseday #healing #chronicdisorders #autoimmunedisorders

MAXX'S STORY

It was a regular day until it wasn’t.  We had walked halfway to the clubhouse when I noticed my youngest son’s shoes, a pair of crappy slides, were slipping off his feet.  I told him to fix his shoes, or he was going to trip.  He said he couldn’t.  His shoes were pointing one way and his foot was twisting another.

Just a few steps later, Maxx’s knees buckled, and he began to wobble.  He began to scream in pain. He fell into me.

And just like that, the sky turned black, lightning began to crack over our heads and rain dumped on us, like a dam had been broken. 

We were too far to go home.  His right leg swelled up and I couldn’t find his ankle.  He winced in pain with each step we took to get out of the storm. 

Maxx grabbed my arm and said, “I can make it mommy”, looking towards the benches we couldn’t see, but knew were in front of the clubhouse. We hugged and I took off running back to the house to get the car, leaving Maxx to drag his leg in the opposite direction. 

I ran all the way back to the house, got my keys and picked Maxx up, both of us soaking wet; and went straight for the ER.

When we got to the hospital, both of Maxx’s legs had doubled in size. 

They looked like sawed off oak tree branches and they were as hard as logs as well.  He also had no feeling in them, except for the piercing pain that shocked him as if he were being electrocuted.  He said it felt like the pain you feel when you take your finger and pull it backwards as far as you can and hold it there for about 10 seconds.  Then it would go away. 

The doctor knocked on his legs and they sounded like they felt.  Hard.  I used my fist and knocked on them to see if they would somehow deflate. 

The ER physician had no idea how to help us.  He told us he had never seen anything like that before.  I asked him what was wrong with Maxx, and he said, “I don’t know.”

And that would be the response for 5 years.

Maxx began having chronic spasms from his neck down.  His arms and hands began to move on their own, bending and twisting in ways you just can’t do to yourself. 

I would watch as his fingers bend backwards.  His feet and toes would wave through the air, twisting Maxx into a human pretzel.

He would cry out in pain every few minutes, sometimes without reprieve, back-to-back, minute to minute, for hours. 

He was put on 7 different medications.  He began having other symptoms, probably contraindications from the mixing of all the meds.  He broke out in rashes.  He had hot and cold flashes.  He had night sweats.  He got bloody noses.  His vision got distorted and blurry.  And he started seeing people and hearing voices in his head.  He gained 40lbs and became obese within weeks.

He was able to walk until he had an episode.  His feet would twist backwards, toes pointed behind him, and he would fall.  Afterwards, he would become nauseous, and then, like a zombie, he would lose all the color in his face and his eye sockets would turn black, like he had been in a bar fight.  After every episode, he would say that he had low energy, and he would be down for days. 

Eventually Maxx became bedridden.  He was having so many spasms and low energy, that he couldn’t get out of bed long enough to stay upright.   The doctors said he has dystonia, which is the same disease his father had brain surgery for when he was 34 years old.  That seemed to make sense. 

We had no choice but to accept the diagnosis.  “Maxx, you have dystonia.  There is no cure.  It might get worse.  Good news, you can get brain surgery if you need it.”

While in a wheelchair, writhing in pain and unable to get out of bed due to low energy, Maxx told me that he would accept that he had the disease.  He would live with the pain.  But he would never give up on walking.   

Maxx spent his good days learning how to fall.  He would go days without getting out of bed.  He would be sick to his stomach.  He would be hot and then cold and wake up soaked in sweat, shivering.  He would clench his teeth through spasms that would shock his body, and then leave him too weak to stay awake. 

After months of sheer torture, we were told that there was nothing else to do.  Maxx needed brain surgery.  It was no surprise since his father had DBS,(Deep Brain Stimulation) surgery once his symptoms began to keep him from chewing or swallowing.  I would try to open Maxx’s mouth that would lock up, using my entire body weight, and it would not budge. His neurologist tried to open his mouth while we were admitted in the hospital and he could not get it to open either.  Next stop, surgery.

We were told they would call us to schedule when they had an opening.  They called the next day.  They asked if we could get to Miami the following day for the pre-op appointment. 

When we got to All Children’s Hospital in Miami to see the neurosurgeon for his brain surgery, she took one look at Maxx and said she would not perform the surgery.  She told us that Maxx did not qualify.  His symptoms would come and go, which was a problem for brain surgery, since dystonia does not come and go.  She said we needed to go home and wait for Maxx to get worse.

Maxx was determined that he was not going to have brain surgery. 

He worked every day, falling, rolling, standing, falling, rolling, standing, falling, rolling, falling, over and over, until he could stand a little longer and fall a little less.

We weaned him off all the drugs, which was a thing all by itself.  Maxx went into detox, and it was like coming off cocaine.  He ran into walls, pointed at people he saw in the room that didn’t exist and had the chills day and night.  It was horrible.  I felt I was making him sicker than he already was.  He cried and begged for pain relief, and I was very tempted to give it to him.  I was always on the verge of breaking down and letting him have a valium, but somehow when lucid, Maxx would reassure me he was ok and not to give him anything, even if he begged.  I wanted to call 911 every single day. 

Meanwhile, we saw a geneticist, who said Maxx does not have the dystonia gene.  She tested Maxx for just about everything and could not find any evidence of any known disease.  Then we learned that Maxx’s father didn’t have the dystonia gene either. 

Maybe his dad was misdiagnosed.  Maybe his dad never had dystonia either. 

Since we have been estranged from his father since Maxx was a year old, we will probably never know what his father really had that caused his symptoms, that led to his brain surgery.  I was with his father when he had the surgery, so I know that the surgery helped something, even if it wasn’t dystonia. 

Maxx and I traveled 4 hours to see a dystonia specialist, whom each time he saw us, told Maxx that he didn’t know what Maxx had, but it wasn’t dystonia.  His diagnosis was what I call, The Shitty Stick Syndrome.  The World Renown Dystonia Specialist said these words verbatim to 10-year-old Maxx, three separate times, “Some people get hit with a shitty stick and you are one of them.”  Thank you, Dr. Doom.  

Once we got in the car, that third visit, I told Maxx that would be the last time we ever see that man and I meant it.  (What I really wanted to do was hit him over the head with a shitty stick…I digress.)

Maxx laughed and said, “Well, at least I don’t have dystonia.”

Maxx has overcome so much, but he still has many strange episodes that puts him into the world of Rare Disease and Disorders. 

Rare Disease and Disorders feels like the land of the lost.  It is like falling into a black hole.

I kept tedious notes over the first 3 years.  I logged every minute of Maxx’s waking and sleeping.  I timed his spasms.  I logged what he ate, when he ate, and how often he went to the bathroom.  I videoed him spasming.  We even measured his pee. 

I slept more when I had nursing babies than I did the first 3 years of Maxx’s illness. 

Maxx has since learned how to walk without falling, and he can even run.  He doesn’t run marathons like he did when he was in 3rd grade, but he hasn’t been in a wheelchair in more than a year.

I don’t want to dismiss Maxx’s pain.  He and I agree that he should share his truth.  The struggle is real. 

There is a loss of what Maxx thought his life was going to be like.  Sports and ball games and his love for running.  He was a rising athlete.  He was fast.  He was quick on his feet.  He could hit a baseball out of the park in elementary school.  His coach would invite Maxx to  hit baseballs after school, just because it surprised him how easily he hit home runs. 

Depression sunk in.  The fear of the future looms over your daily life in Rare Disease and Disorder World. 

Maxx’s symptoms are manageable, but we know there is a possibility of a regression.  Brain surgery, like DNA, may get passed down to him from Dear Ol’ Dad.  Thinking too much about the unforeseen future can turn daunting.  Overthinking is a trap that is easy to fall into.

Maxx began having facial tics.  We saw a therapist that helped Maxx learn strategies to minimize them, but they have a mind of their own.  They happen when Maxx is stressed, but they happen when he is happy, too.  We have learned to accept them as markers of his moods.  There are far worse things than winking and blinking.

Pain.  Well, no one wants pain just for fun.  I don’t feel Maxx’s chronic pain, so it is easy for me to say it must be terrible.  But watching what it does to him is heartbreaking.  To say I would trade places with him sounds good, but honestly, I don’t think I could handle it with the grace that Maxx does.

Rare Disease and Disorders is something Maxx and I are still learning about.  It is one of those subjects that you don’t go looking for.  It’s something, I suppose, that happens to you and suddenly you are in it. 

I do know something about that. My kids and I have fallen into many surprises.

My son Ethyn was diagnosed with autism at 24 months old.  Surprise.  He has P-Ten Gene Disorder and Cowden’s Disease.  Who knows anything about those things without being diagnosed with it?  Ethyn got epilepsy three years ago.  I didn’t know anything about epilepsy until then.

My eldest, Aaron, had a psychotic break at 21 years old. Big surprise.  I did not see that coming.  Suddenly I was learning about schizo-affect disorder and mental illness. 

My son, Eli, was recently diagnosed with severe ADHD, which I heard of, but never bothered to read up on until we realized it affects everything.  And Eli has sarcoidosis, which he also just found out he has.  It explains so many things Eli has struggled with that we went for years not knowing what it was going on.

With Eli’s diagnosis of sarcoidosis, there is at least something to go with.  It took years to get a diagnosis that fit, but it has felt like a relief to at least know what we are dealing with.  Surprise surprise.

There is something about knowing that Rare Disease and Disorders World, doesn’t get.  On one hand no news might seem like good news, but not knowing leaves you in the eternal damnation of not knowing. 

It’s its own kind of pain.

For the nearly 25 to 30 million Americans affected by Rare Disease and Disorders, my family and I salute you for your strength and bravery.  We know what it takes to be in Rare D World.  It’s not a residency anyone wants, but it is a citizenship that deserves recognition, support, and love. 

Your life matters.  Your condition is part of your story, your experience and what makes you, you.  The pain is real. The symptoms are true. It is unfair. 

But like Maxx, you have a life to live.  The unknown is a very wonky place, so try not to live there. 

Maxx leaves the Land of the Unknown alone.  He likes his happy place.  He has declared many times that all he wants in life is to be happy, so he decides to be happy, on purpose. 

And he does a damn good job at it.  I know, I see him every day.  Even when he is doubled over in pain, he waits for it…and the second the symptom subsides, he switches back to happy.  He may have rings around his eye sockets that look like he got suckered punched, which he probably did, he chooses to be happy. 

Please pray for all those who live with pain.  Pray for all those who have rare diseases and disorders, and struggle with not knowing, or just as bad, not knowing enough.

It might be you.  And though your disease may be rare, it doesn’t make you unworthy or unimportant.  Your life matters.  You matter. 

We care about you.  You don’t live in random land.  You don’t have to free fall into the black hole of the unknown. 

Find your family that will hold you up.  That will run in the rain.  That will watch you sleep, measure your pee and wink when you blink.  That will choose happy while hurting. 

If you don’t have a family like that, then let mine be your family.  We choose happy over suffering.

Maxx and me and my boys, we love you.  You belong here, Beautiful.