Friedreich’s Ataxia

I was stress googling some of my son’s symptoms trying to find the least harmful possible explanation after the latest visit to his neurologist.  I came across the words  Friedreich’s Ataxia and clicked the link, hoping that Friedreich was the person who found the cure to the disease and all would be well.   I imagined Freidreich an eccentric older man, with wild hair, working alone obsessively in his laboratory for years.  And then at the end of one exhausting day, nearly broken by frustration, a moment of inspiration struck and he realized what he had been overlooking all along.  He then ran to the old chalk board covered in complicated chemical formulas, and changed a couple of coefficients.  Great Scott! But of course, it was so obvious now! It had been there all along!  Next he would move over to a row of test tubes, knocking over a few beakers in his excitement.  He would combine a couple of ingredients and viola!  He would hold up the test tube in triumph, his eyes wild with excitement.  Mr. Friedreich would forever be memorialized in med school text books and this terrible disease he had just cured would now be know as Friedreich’s Ataxia.

Unfortunately, such a scenario only exists in movies and the optimistic imagination of a worried parent.  There is no cure or treatment for Friedreich’s Ataxia. It is a rare, degenerative, neuromuscular disease.  My son Andrew received the devastating news that he indeed did have Friedreich’s Ataxia, about 30 days after my evening of searching his symptoms.  The neurologist matter-of-factly informed us Andrew’s unsteady gait and balance problems that caused our initial concern would only get worse.  He told us that within 5 years he would probably been in a wheelchair, followed by blindness, deafness, loss of speech, and finally a premature death.

This was crushing news for me, but Andrew handled it incredibly well.  Andrew is only 20 years, old and he decided to speed up his education and enrolled in an intensive all-day programming boot camp run by the University of North Carolina in Charlotte.  He has worked through this course work with amazing dedication and is now about to complete it.  He has not wasted time feeling sorry for himself.  The picture above with his beaming smile was taken after another neurologist visit in which we discussed his future.

In the months that followed I found a non-profit group, Friedreich’s Ataxia Research Alliance, and learned that medical breakthroughs don’t come from eccentric scientists working alone in their laboratories as I had imagined.  The breakthroughs come slowly through the work of universities, scientists, doctors, pharmaceutical companies, hospitals, clinical trials, and most importantly the patients themselves.  Each project, whether successful or not, adds a little to our collective understanding and inches us a little bit closer to a cure.  Research on Friedreich’s Ataxia has been going on for decades. There are a few exciting clinical trials going on now and a few more getting ready to start.

It is like a relay race expanding careers and lives, and now the baton has been passed to Andrew for him to play his part.  Andrew didn’t choose this race, but is facing it bravely, and we are so proud of him.  He is running for himself, hoping for a cure before his disease progresses too much further.  He is running for the courageous patients that came before him.  In life they gave their precious time, blood, and tissue samples to help find cure.  And when that cure did not arrive in time they for them, they donated their organs to research in death.  He is running for kids now who are happy and healthy, symptom free and blissfully unaware that they are carrying the gene for Friedreich’s Ataxia.  That they may forever remain symptom free and not endure the pain that he has.

For info on how to help find the cure to Freidreich’s Ataxia see the Lend us Some Muscle campaign.

A Boy Gets His Bike

I knew I really should have felt happy for the 170 kids with special needs who did win an adaptive bike in the Great Bicycle Giveaway.  It was a privilege to be a part of this three week contest, and I am very grateful to all my family and friends who supported by donating and promoting the contest.

But it did hurt not to see my son’s name and picture amongst the winners.  This was the second year that we participated and did not win. Adrian has always loved anything with wheels and movement.  So far he has not been able to learn to ride anything, a bike, skateboard, or scooter on his own.  Somehow though, we have always found a way to have something for him to ride.

 

But now he had completely outgrown his last bike trailer and it looked like we would be facing a spring and summer without bike rides.  The adaptive bike we were trying to win is called the Buddy Bike and costs over $2,500 with delivery, assembly, and taxes.  The Buddy Bike is a specially designed tandem bike that allows the adult to ride in the back and steer while the child rides safely and happily in front with his/her own set of pedals and handlebar.  Having an autistic child is financially crushing for a middle class family and there was just no way I could afford it, although I was very tempted just to purchase it and then deal with financial chaos it would cause to our little family budget. Adrian has autism, is non-verbal, has some trouble with coordination, no impulse control and ADHD which makes bikes difficult but not impossible. It was my disability to purchase a bike that would keep him from riding.

It was with these thoughts and sadness that I sat down at my computer two days after the contest had ended.  I also had a saved craigslist national search set up for over a year that had found only three Buddy Bikes.  One in Maryland with no picture for $900 last year, one rusted out in Miami for $500 in January, and one for $1,500 in Oklahoma.  There have only been a few hundred Buddy Bikes produced so the odds of finding one were slim.  But suddenly I was staring at one listed about 4 hours away that looked to be in good condition.  I could hardly believe what I was seeing. I really couldn’t believe the timing just two days after the contest ended.  Those who like stories where the pieces fit neatly together will also appreciate the fact that it happened to be World Autism Awareness day.  It was in the Cobb Antique Mall, of all places, in Marietta, GA and they were closing in a few minutes.  I managed to get someone on the phone there to look and confirm that the bike was still there and then convinced her to hold it for me until they opened in the morning, while my wife hurriedly starting packing.

As I ran to the car with the last bag for our trip my wife Maggy said to me, “You know we are crazy right?”  I hadn’t thought about it, but I guess it is a little crazy to be thrilled to drive two states over for the chance to drop $500 on a used kid’s bike, but we march to the beat of a different drummer.

The next day,  I was standing in front of a bike that I had only seen in pictures and my imagination.  I still had one more nagging worry before my quest would be over.  Would it even work for Adrian? Or would it by like so many other expensive gadgets that seemed like a great idea but Adrian just didn’t have a use for them.

We took the bike to an empty school parking lot.  I got on the bike alone and starting riding around to get the feel of how it handled before putting Adrian on it with me.  The whole time he was running behind me chasing wanting to get on.  After a couple of laps I stopped and had him climb on.  But he got real nervous with the large handlebars coming back past his head and the pedals moving under him.  He started fussing and wanted to get off.  I made a few adjustments to the position of the handlebars, but he got nervous again and refused to get on.  A few more laps around the parking lot without him, and then he came running over wanting to get on.  And that’s when the magic happened, he got on and rode happy as can be.

 

We are so happy that everything worked out for Adrian.  I do feel for the other kids who didn’t win a bike and are still seeking a bike.  I hope to use this bike and my experience to help other families find adaptive bikes.  I know there are much more pressing issues in the world, but this cause is meaningful to me.

For All that You Have Accomplished

June 13, 2015

This is a proud moment for me.   I’m sitting several rows up in a crowded arena straining to see the face of my oldest son, Andrew, amongst  the small crowd of young people in caps and gowns sitting in front of the stage.  Today he is graduating high school, an accomplishment that 15% of his peers did not make.   I know this number because, in an act that is symbolic of my parenting of him for the last 18 years , I looked it up only this morning.  I have always compared Andrew’s accomplishments to something.  To his peers, to my idea of success, and perhaps most ridiculously, to my memory of my own self when I was his age.  This comparative analysis has robbed a little joy from every celebration and a little sincerity from every complement I have given.  Certainly in life there is always someone better, faster, stronger, or smarter.  This almost involuntary reflex to compare led me to looking at graduation rates with the idea that the higher the failure rate of other kids, the more significant Andrew’s accomplishment today.

There are a some things in life that always seem to be with me.  This one is a dull ache that usually resides just outside of consciousness, but comes to the forefront now triggered by what I am watching.  My mind wanders to a gray filing cabinet, in a gray school admin building 30 miles away.  This filing cabinet contains a document, an “Individualized Educational Plan,” for my son Adrian.  The document outlines goals for Adrian and steps that will be taken to achieve them.  The two parts of this document that bother me are a paragraph stating that  Adrian’s course of study will lead to a “Certificate of Attendance” instead of a high school diploma, and my signature at the bottom.  Adrian is 6 years old, has autism and as of yet is non-verbal.  I can’t help but wonder what this day will be like for him.  Will he be given a cap and gown? Will he get to walk across the stage?

Comparative analysis with Adrian is useless and painful.  The majority of his peers are far ahead of him in all recognizable ways, and there is a constant stream of reminders of this every day (thanks Facebook!). With Adrian every preconceived guidepost, every milestone, and every point of reference is wiped away.  Without a frame of reference it is difficult to set goals, to know how hard to push, to know what is realistic and what is not.  The only thing that I do know and believe with absolute certainty is that he is capable of learning.  I have foregone comparative analysis in favor for longitudinal analysis.  His progress is measured only against himself over time and our ideas of success are adjusted accordingly.  If he puts on his shorts by himself there is genuine celebration and congratulations all around, because it is something that he hasn’t been able to do consistently.  It doesn’t matter that other six year olds don’t have any problem with this task at all.   If he doesn’t look at what he is doing and puts both feet throught the same leg openining then his attention is called to the task and he is made to try again.  If he does focus and makes a genuine effort, but doesn’t get the shorts on quite right then he is praised for the effort and gently encourage to keep trying.  This is very counterintuitive for me and I believe for most people.  We all love inspirational stories of people that overcome great challenges and meet one of our common definitions of success.  We are less willing to adjust our ideas of success to suit individual circumstances.  I have to keep reminding myself that when I signed that document I wasn’t giving up on Adrian, I was giving up on the world’s idea of success for him.  I do hope that he graduates high school, but I just don’t know and can’t let that define him.

This brings me back to Andrew and his day.  Today I will stop comparing him and just celebrate his success fully.  He has accomplished quite a bit over the years.  The challenges that he has overcome are are unique to him and he has progressed remarkably.  Tomorrow and going forward I will be more personalized and thoughtful in the way I measure his success and set his goals.  In two days he will be 18 and this process of setting goals and measuring success is becoming more his responsibility and less mine with each passing day.  I hope that he will be able to see himself objectively, that he will be able to recognize his own triumphs and not get stuck always comparing himself to others.  Equally important, I hope that he will be able to recognize and correct his own shortcomings.  Outside the doors of this arena is the “real world” and 7 billion people waiting to stack rank, compare, categorize, and criticize.  When I walk through those doors there will be at least one that sees him as a person, that challenges him according to his own unique abilities, that celebrates his improvements, his genuine efforts, and his success, and provides fair and honest guidance when necessary.

Independence Day

I always knew that eventually one day this would happen, but my blood still ran cold seeing the empty shopping cart seat.  Adrian was gone.  I was turned around for only a few seconds trying to pick out a couple of ripe avocados from the pile of green ones.   Adrian was buckled into the shopping cart, but now he is gone.  This is the type of shopping cart that has a seat similar to a park bench at the back.  The buckle must have failed.

My first guess is that he ran to candy machines by the doors on the right side of the grocery store.  I bolt over there, but my guess is wrong, no Adrian. I peer through the doors to the water fountain about 50 yards away, but no sign of Adrian.   I look to the doors on the opposite side for a split second.  50 yards past those doors is a two lane road with a 45 mile per hour speed limit.  Then, gambling more than I can bring myself to put into words, I run back into the grocery store.  I see an older employee with a radio near the entrance, and grab him by both shoulders.  I had passed him earlier on my way in with Adrian in the cart, he had smiled at Adrian and I, and made a joke about maneuvering the long cart.

“Sir, I need your help finding my son!  Do you remember him?” I say.

“Yes” he answers.

The gentleman heads to the opposite side of the store.  I start running around as far as I can into the store while at the same time keeping the entrance within eyesight and within a 1 second sprint should Adrian suddenly appear running towards the door.

After what seems like an eternity, I hear a shout and wave and turn to see Adrian running from the opposite side of the store.  He has a big grin on his face and is as happy as I have ever seen him.  When he is very happy his run turns into a sort of stutter step-skip-run that is hard to describe but a vision of pure joy.  His feet are almost a blur and he is saying “bybybybybybybybybyby” very loudly.  In one hand he has two big limes, in the other hand a jumbled pile of Macy’s gift cards, and tucked under his arm is a big box of Popsicles.  Some people reading this will instantly understand.  These are just his latest obsessions.  He loves limes and will carry them around all day for some unknown reason.  He has no idea what a gift card is used for, he just loves the Macy’s logo.  Not sure where the Popsicle obsession came in but every time we are in the grocery store he pleads for them like they are the most important thing in the world. But they have all the sugar and artificial colors so he only gets the fruit bars.

He is struggling to hold onto his loot when I catch him by the arm.  Clearly the Popsicles where the last item on his shopping list, and he must have struggled to open the freezer door with two full hands.  I put back the Popsicles and gift cards, the limes he can keep.

I put him back in the cart, make sure I hear the click from the buckle, and head to the register white as a ghost. I hear a click, click, click and look down.  Adrian is opening and closing the buckle of the safety belt.  So the buckle didn’t fail, Adrian has learned something knew that will be an added complication for my wife and I going forward.

On my way home my mind races with what to do to prevent such a thing from happening going forward.   I start thinking of safety harnesses, a special cart of our own just for him that he can’t get out of, bracelets with alarms that will sound should he get too far away etc.

But now that I have a little more time to think about it, one thing that stands out to me was his pure joy.  He didn’t pitch a fit when I took his items away from him, it was those few seconds of independence that made him so happy, not the Popsicles or gift cards.  I have often looked at other families with kids much younger than Adrian and been jealous of how the parents can let the kids walk freely by their side through the parking lots and into the grocery store.  The kids stop when they are told, and come when called.  But that jealousy has been comparing the parents to myself.  It must be much harder on Adrian, to be over 6 years old and have never been able to be in a store without being tied to a cart or held by the hand.  It must be tough on him not to be able to independently choose to walk over and look at something just a few feet away.

Adrian is not so different than the rest of us.  It seems like ever since we are born our desire for more independence grows ever stronger.  If there is one sure way to make someone unhappy it is to restrict their freedom.  As parents I believe one of our main jobs is to train our kids to become independent.  I am enough of a realist to understand the independence for Adrian will always be something completely different then independence for my oldest son Andrew.  But it is my job to help them both prepare for independence.  In the past with Adrian, I have seen my job as eliminating risks in order to keep him safe.  But no one wants to have their freedom overly restricted in the name of safety.  My job with Adrian, just as with Andrew, isn’t to eliminate risk, but to manage risk.  That is a much tougher job, to find that delicate, unique balance between risk and freedom that is constantly changing.  It is crazy scary, but along with dreaming up ways of keeping Adrian safe I am going to be constantly seeking ways to give him more freedom.

Sticks and Stones

There was no malice in my friends joke.  He was just trying to be funny and meant no offense.  It was just some words and didn’t mean anything.  Similar jokes had seemed very funny to me, and I had used a variation of the punch line myself many times before.   But this time is wasn’t funny.  I just sat there in stunned silence.  Now that it was my little boy riding the figurative “short bus” that punch line wasn’t funny at all.  Of course it has always been cruel, but I was too wrapped up in myself to notice. All of the other phrases, jokes, and insults that I have used and condoned over the years towards other groups were cruel and hurtful too.

That joke was over three years ago and it has taken me that long to process the emotions I felt then and put them into a logical argument.  Below is my attempt to explain.

I can’t be with my son all day.  Short bus jokes and slurs like retard convey the idea that those with intellectual disabilities or developmental delays are a category of people that are defective, less than human, and fair targets for ridicule.  On any given day a google news search on the word autism will return a news story about abuse less than 24 hours old.     One day my son will be on this earth without me.  History is full of examples of what can happen when one group of people feel that a subgroup of people is inferior and the horrific abuse that follows.  A group can be a few kids on a school playground, a department in an organization, a state, or a country.  All that is needed is a prevailing disdain and not enough people to stand up insist that all be treated equal.  I need and depend on whatever group Adrian is in to view him as an equal and deserving of treatment equal to any other human.

I didn’t say anything to my friend that day, but I did make two promises to myself.  The first is to “do no harm.” To be careful with my words and to make sure that I don’t contribute to the idea that any group of people are inferior.  The second promise is to not remain silent when I hear others expressing these types of ideas.    I am not the word police, the PC police, or a wimp contributing to a nation of weaklings.  I get it.  People can and will say what they want.  People have the right to be offensive.  I can’t stop it.  I’m not the boss of anyone.  But I don’t find those words offensive, I find them dangerous.  I also have a right to my own free speech and an obligation to speak for a little fellow that has no words of his own.

A few times since then I have heard the jokes/words being used.  Each time I believe the comments were made out of ignorance or carelessness.  I politely approached the speaker with a heavy heart, humbled by the weight of my own past transgressions, and politely requested that he/she not use that type of language.  I haven’t always exactly received an apology, but without exception each person has agreed that such language should not be used.

I am sure one day I will encounter someone who is intentionally using such language with the intent of causing harm.  And when I do, I am not worried.  I have the calm power and strength of conviction on my side.

Drop that Beat

In 1994 a very talented pro baseball and football player, Deion Sanders, released a rap album with a single titled “Must be the Money.”  In 2001  rapper Nelly arrived at the same conclusion and released a song titled “Ride Wit Me” featuring the same “must be the money” chorus. In 2013 Honey Nut Cheerios did a remake of the Nelly song, cleverly changing the chorus to “must be the honey” and adding the line “drop that beat!” to the beginning of the song.

In 2014 my five-year old, Adrian, found the commercial on You Tube and watched it over and over again.

In 2015 Adrian surprised me one day by saying the word “beat” after watching the Cheerios commercial.    This was a surprise because Adrian only knows a handful of words. What is even more special is that he will say the word when prompted.  If I say “drop that” he will answer “beat.”  At first it was a struggle for him.  It would take a full two seconds for him to form the word in his mouth before “beat” would triumphantly cross his lips.  He would put his lips together and I could see them start to move a little before the word would come out.  It reminded me of those times when I was a boy and we would eat watermelon outside.  Invariably a friendly competition would break out between my brothers and I to see who could spit a watermelon seed the furthest.  The looks on my brothers faces was the same as they would prepare to launch what they hoped would be the winning seed.  It is a look of concentration as the mind struggles to coordinate muscles, tongue,  and breathe into one fluid, unfamiliar motion through the lips.

It has been two weeks now and everyday we practice.  I say “drop that” and he answers “beat.”  “Beat” comes out much easier now, it no longer requires concentration and a 2 second build up.  Could it be that there is now a permanent path from his mind to his mouth for the word “beat”?  Or will it disappear as has been the case with other words?  Maybe this will be the break through word, and other words can use the “beat” path to find their way from his mind to his lips.  Only time will tell, but for now this is the hope that keeps me going.   Every time a “drop that” is echoed by a “beat” in this home it is a victory.  It brings joy to my wife and I, and the grin of a watermelon seed spitting champion to Adrian.

A Trip to Nowhere

It’s getting close to bedtime and Adrian comes and takes my hand with a sense of urgency.  He has only a very few words to use, so this is how he communicates with me.  He has put his Crocs shoes on already by himself, which is an accomplishment even though they are on the wrong feet.  When he puts his shoes on, it is not to protect his feet, he is much happier barefoot.  Shoes on feet is his way of telling me he wants to go outside.  He takes my hand and urgently puts it on the doorknob to make sure I understand.  I remember that earlier in the day he left some of his toys in the car.  Yes, that must be it. I grab the keys, take his hand, and he happily pulls me along to the car giggly with excitement. I open the car door, he crawls in, ignores his toys and sits in his booster seat.  Oh no!  I guessed wrong. He looks at me, points toward the dashboard, shakes his hand and speaks in his syllables that don’t form words.  He is watching my facing hoping for some sign of understanding of what he wants.  He gets out of the car, looks at me, does the sign for “all done” to let me know to stop standing there and pushes me towards the driver’s seat.  Clearly he wants to go somewhere, but where?  He crawls back in to his seat, frustration is now starting to set in.  He starts to hit his head against the seat and bite his index finger.  I move his hands from his mouth, feeling the rough callused skin on the outside of his finger from the months of biting. His desire to be understood is so great I can feel it in the air, and see it in each tear now  starting to roll down his cheeks.

I’m trapped now at the car.  I shouldn’t have left the house without thinking it through, but I’m tired too.  I don’t have my wallet, driver’s license, or phone.  I have some pictures in the house that might be able to help him tell me where he wants to go.  But, I can’t go back to the house now, he wouldn’t understand, he would think we were going in for the night.  The frustration and disappointment would be too much for him, and he would have a full blown tantrum and the finger biting would be worse.  He knows exactly what he wants, he has done a great job of communicating everything, but now we are stuck.   All we need is one word for the place he wants to go.  But there is nothing he can do to give it to me and nothing I can do to hear it.

So I buckle him in to his seat and start the car.  I can’t take him anywhere; he is too tired and fussy.   If I guess the wrong place it would be just more disappointment and the dreaded tantrum.  I would take a guess on McDonalds but I don’t have my wallet so I can’t buy him the nuggets he loves so much.  So we drive around the neighborhood a couple of times.  Of course he is not fooled; he fusses every time I drive past the entrance out to the main road.  He settles down a bit, but when we stop back at the house he increases his fussing to let me know his disappointment.

I unbuckle him and take him by the hand and start walking towards the house.  He is pulling back on my hand and still protesting, and wanting to go back to the car.  But then about halfway between the car and the door, he stops pulling against me, picks up his pace and now he’s pulling me towards the front door.  In that split second I know we are ok, crisis and tantrum averted.  We had our argument, he compromised a little, I compromised a little.  We didn’t fully understand each other, but we gave it our best shot and reached an agreement that was acceptable to both of us. The early autumn night is a little chilly, the air is especially clear and there’s a big beautiful moon in the sky.  “Luna, moon” I say. He turns his head sideways, looks back at me, a big grin of self-satisfied recognition spreads across his face and he points his finger towards the sky.  Not the word or location we needed tonight, but I’ll take it.

Language and Plans

We narrowed down our list of names and chose Adrian before he was born. I had envisioned a multilingual life for my son. His inheritance would be two languages, his mother mother’s native Spanish and his father’s native English. He would not have to struggle to learn either language, or be burdened by accents. His understanding and opportunities would be double, fluent in two of the three most popular languages in the world. He would be able to flow seamlessly between cultures and languages, and choose where to spend his time. Yes, the name Adrian would suit him well; it rolls off of the tongue as easily in English as it does in Spanish.

Today Adrian is 4 years old. As has often happened in life, things have not turned out as I had imagined. Adrian speaks neither language. He is blessed with a bright, inquisitive, and very unique mind. To Adrian words are little more than acoustic curiosities, competing with a vast number of much more interesting stimuli around him. Sometimes he will learn a new word, and there is cause for great celebration. He will use the word for a few days almost as he would a new toy, and then loses interest in his verbal toy sets it aside. Throughout each day, in every activity we do together has an element of speech therapy. I am always trying to get him to attach meaning to these sounds we call words. I am trying to teach him the basics, the building blocks of life for a four year old. Words like “mom”, “dad”, “hungry”, “I want”. I have learned that it is a process, that just because there might not be any words spoken on that day, doesn’t mean that there wasn’t any learning, that there wasn’t any progress. And through it all Adrian is teaching me to attach a deeper understanding to basic words such as “success,” “life,” “love,” and “perseverance.”