Tag Archives: Mitochondrial Encephalomyopathy

A Garden Just For Joey

A little over a year ago, I wrote about the day my little guy discovered pinwheels.   At that time I had already designed and begun building a garden for Joey, but it was after that afternoon in the doctor’s office that I realized pinwheels would play a very big part in his garden.

https://tohellinhighheels.com/2013/05/14/often-the-simplest-of-things-bring-the-most-happiness/

So, each time I had a few extra dollars, I would buy a pinwheel and store it away until I was ready to add them to Joey’s garden.  During the Roseanna Borellicreative process, the garden took on a life of its own and while the first phase is complete, it’s far from finished.  See, I don’t know what Joey’s next discovery will be.  Joey has the rare talent and ability to see the ‘new’ in the simplest of things.  To find unexpected joy and excitement in things that may seem mundane and ordinary to us.  I do know this, whatever Joey discovers and falls in love with next, I will find a way to make it a part of his garden so he can enjoy it as often as he wants.

“A garden to walk in and immensity to dream in–what more could he ask? A few flowers at his feet and above him the stars.” 

~Victor Hugo, Les Miserables

Here’s a video of the making of Joey’s Garden…

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Mitochondria, Miracles & Mindless Morons

Roseanna Borelli

Joey, December 2005

Some of you already know that my son, Joey, was born in April 2004 with Mitochondrial Encephalomyopathy. September 15-21, 2013, is Global Mitochondrial Disease Awareness Week. Across the globe, this week will be marked with various efforts all designed to raise awareness about mitochondrial diseases.  http://www.umdf.org/  In honor of Global Mitochondrial Awareness Week, I’m sharing a few videos of my little boy, Joey, and his battle with Mitochondrial Encephalomyopathy.  What you are about to see took place from October 2009 to February 2010.

Lack of understanding about this disease is one of my biggest frustrations. I made the videos below after Joey slipped into a coma in 2009 after his O2

Roseanna Borelli

Leaving Children’s Hospital, December 2012

levels dipped into the 50’s at school. A rude and ignorant mom at Joey’s school called DHR and told them I was neglecting Joey and knowingly brought him to school sick that morning. We had never spoke before, she never asked me any questions, she just assumed. So, instead of being with my son while he lay comatose in the ICU, my entire family was interrogated by DHR employees for hours. Of course, the case was closed as quickly as it was opened, but it prompted me to make the videos below to show how quickly things can change for children like my Joey.  The video is in three parts and it chronicles Joey’s coma and recovery from October 2009 to February 2010.

There is absolutely nothing more frightful than ignorance in action – nothing.

This next video was made during weeks 2, 3 & 4 into Joey’s coma.  This is where I learned how powerful touch, sound and familiarity can be to a child’s recovery.  While the doctors hadn’t given up on Joey, their outlook was dim.  Joey wasn’t waking up and machines were breathing for him.  I made the decision to have him moved to a room out of the ICU where friends and family could come and visit for a short time and possibly say their last good-bye to Joey.  Just like his mama, Joey is a very social little spirit.  He thrives when those he loves are near him.  So if this was going be the end of his life on Earth, he was going to be surrounded by loved ones, not machines that beep and doctors that only saw him as a patient with a terminal illness.  The doctors approved my decision (like they had a choice) and Joey was moved to a very large room.  I made it very clear that during this time there was not going to be a limit on the number of visitors he had or the length of their visit.  There is a time and place for rules and regulations, this was not it.

Just watch what happens when people start coming to see my little guy – it’s like witnessing a miracle.  The look on his face when he sees his sister for the first time in two weeks still gives me chill bumps.  Those two have always had a very special bond and it was never more evident than on this night.

Below is the third and final video highlighting his coma in 2009.

After 49 days in the hospital, and just one week before Christmas, Joey was finally able to return home. Sadly, Joey was rushed by ambulance early Christmas morning when he began having difficulty breathing. (pay close attention to the photo in this video that was taken on Christmas Eve, then look at the one taken just 18 hours later – that is Mitochondrial Disease at its worst – in just hours my Joey can go from healthy to fighting for his life). In the ER, his O2 was in the 60s and one lung had collapsed – Joey had pneumonia. After one week in the ICU, Joey was able to return home, although he was very weak and lethargic. Joey slept for almost a month, recovering at home. Then, one day, Joey just opened those beautiful brown eyes, smiled and was back to his mischievous little self. Like so many times before, Joey fought hard and the power of prayer prevailed. In February 2010, Joey returned to school after being away for four months. The welcome back celebration was one of the happiest and most emotional moments of my life. I’m so fortunate that my little guy is able to attend such an amazing school that is tailored for children like him.  Oh, and the Auburn shirt you see him wearing, that was for his teacher at the time who happens to be a huge Auburn fan.  Yes, it was painful to put the orange and blue on Joey – but every now and again you have to bite the bullet and step out of your comfort zone.  That was three years ago…so I think that’s enough discomfort for this decade.

Joey celebrated his 9th birthday this past April and continues to be the happiest kid I know – smiling each and every day, regardless of how he feels. We could all learn a thing or two from my little boy. I know I have.  Joey continues to attend school two to three days a week for a few hours each day. His loves continue to be sharks, Alabama Football, the 49ers and anything at all to do with the movie “Finding Nemo”.  He has his mama’s Sicilian stubborn streak, and that Italian temper when things don’t go the way he wants.  He is strong-willed, loves to giggle and has a thing for blondes.  Despite the many limitations life has dealt him, Joey just seems happy to be here and maybe that’s an outlook on life we should all have.  

Hopefully this small peek into our world will silence those who continue to judge me regarding Joey’s care, while at the same time raise awareness about this horrible disease that will one day take my little boy from me.  But there are always going to be haters and there are always going to be those who think they could do it better or different.  If you are completely honest with yourself,  do you really know what you would do in a particular circumstance until  you have experienced it yourself?  And not just experienced it, lived it each and everyday, year after year?  No, you don’t.  I certainly wouldn’t have known what to do in this situation ten years ago, but now it has become my life – and I’m doing a damn good job of giving my little boy the best life possible while he’s here.  How easy it is for us to judge someone else on how they do something, assuming we know better when in fact, we haven’t a clue as to what they are going through.  Be careful my friends, because if and when you do this,  you are judging a person’s actions on what you think you might do in that situation – you are assuming.  When you actually have no idea what you would do because unlike them,  you are not living their life, you are not

Roseanna Borelli, August 2013

That’s me – very proud mama of two amazing kids, Gionna & Joey.

having to make decisions based on their available choices.  And while some parts of my life resemble that of an open book and people like to assume they know everything about me, I can promise their sweet asses they don’t know my entire story.    

Ah, but one day they will and the bookstores won’t know whether to place my book in the section marked suspense, comedy, horror or ‘OH MY GOD, NO SHE DIDN’T!

“Sometimes your light shines so bright that it blinds people from seeing who you really are.”  ~S. Alder

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“We must accept finite disappointment, but never lose infinite hope.” ~Martin Luther King Jr.

“Breakthrough DNA Study Opens Door to New Treatments for Mitochondrial Diseases”

I just read those words and my heart leapt – it really did.  Some of you reading this know that my little boy was born with a Mitochondrial disease, Mitochondrial Encephalomyopathy.  There is no cure for this terminal and progressive disease that has left my son unable to walk, talk, sit, stand and swallow.  Almost daily seizures and intestinal issues are a way of life for him. Roseanna Borelli He’s had ten operations and countless hospital stays, some lasting for weeks.  And while a cure may not come in his lifetime, that science is working, and making wonderful progress, on researching a cure put a much-needed smile on my face.  But maybe a cure will come in his lifetime, I’ve witnessed too many miracles where my sweet boy is concerned not to believe in the sometimes unbelievable.  I’m neither an optimist or a pessimist, just a realist – who prays and talks to God –  quite a bit.  I also know that my son has survived comas and high CO2 levels that would have sent even the healthiest of beings on to meet their maker.  I’ve watched him suffer through seizures that seem to know no end, I’ve held his hand for hours on end in the ICU praying for him to wake up.  I’ve cried to God asking him ‘why’, so many times.  But children are closer to God, I really believe that.  And maybe Joey knows or understands more than I do – that wouldn’t surprise me at all.  Maybe my Joey has been fighting so hard for the past nine years because he knew this day would come.  The day when a group of talented medical doctors at the University of Miami Health System, acquired the funding to give mitochondrial diseases the much needed attention and research moms like me so desperately want and need for children like my Joey.

You can read the full article here:

http://med.miami.edu/news/breakthrough-dna-study-opens-door-to-potential-treatments-for-mitochondrial

I read the following words with tears in my eyes from Dr. Carlos T. Moraes, “Although further studies are needed, lowering the mutant mtDNA should be sufficient to produce lasting changes in the mitochondria.  In fact, it is reasonable to expect that a permanent correction of the mitochondrialDNA might be achieved after one or a small number of administrations of mitoTALEN, either as genetic or protein agents.”

This latest breakthrough probably won’t make the evening news and theRoseanna Borelli likelihood of seeing it all over the internet is slim to none.  But to me, this is the best headline I’ve seen in quite some time and it gives me hope.  Sometimes, that’s all we have to hold on to isn’t it, hope.   I hope and pray everyday for my Joey – that he will be full of smiles, the seizures will stay away and the two of us will be able to weather whatever storm is headed in our direction.  There is a Tibetan saying, ‘Tragedy should be utilized as a source of strength.’  I believe that no matter what we are going through, no matter how painful and difficult it is, if we lose hope, that’s our real disaster.

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To learn more about Mitochondrial Diseases, please visit and support, www.umdf.org

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Often the simplest of things bring the most happiness…

In Paulo Coelho’s book, The Alchemist, he writes, “The simple things are also the most extraordinary things, and only the wise can see them.”  I truly believe that, well, I have believed that for the past nine years.  My little boy, Joey, just celebrated his ninth birthday and he is among the wisest I know.  You see, Joey just discovered pinwheels.  Yes, pinwheels.  A rather simple toy by today’s standards. It’s certainly nothing fancy, as it is often made of just paper or plastic curls, attached at its axle to a stick by a pin.  It doesn’t require batteries and it can’t even be plugged in.  In fact, to get it to do anything requires a summer breeze or it must be blown upon by a person.  But to my little guy, it was pure magic.

This latest discovery of Joey’s happened by chance, as do most unexpectedJoey Discovers Pinwheels things.  There was a pinwheel in the doctor’s office and out of sheer boredom, I picked it up and began spinning it for Joey.  The look on his face when he saw all those bright colors spinning around was one of the most precious expressions I have ever seen.  Many of us have had the distinct pleasure of experiencing something through the eyes of a child, but when your child is disabled and all of the sudden he finds immense joy in a toy or a song or anything for that matter, well, it makes you stop whatever it is you’re doing and take notice.  I can tell immediately if something is going to really hold Joey’s attention or if it is just going to be a momentary infatuation.  After 45 minutes of spinning that pinwheel for Joey, I knew his love affair with pinwheels had begun.  As we sat in the doctor’s office waiting, I watched Joey look with wonder and then smile so brightly at this toy.  Who knew a toy, that  can be traced back to the late 1800’s, would bring such happiness to a little boy, 140 years later.  Joey cannot walk, talk, sit or stand, but he could reach for that pinwheel and smile and coo as it spun around and around.  So you see, it’s true, the simple things in life are very often the most extraordinary things, at least, in our family they are.  I’m in constant wonder and amazement at what my little boy teaches me every day.  All children, regardless of their abilities, have a sense of wonder and awe that we tend to lose as adults.  I’m so blessed that I get to relive my childhood through my son.

As I sat in the doctor’s office waiting – and spinning the pinwheel – I immediately began planning how to incorporate Joey’s new found love of pinwheels into his everyday life.  I tend to be like a bull in a china shop with my ideas and projects.  Once I get a notion or thought in my head, watch out – because I will do whatever it takes to make it happen, especially if it involves my little guy.  It’s my best and worst trait.  Ok, it’s one of my best and worst traits, but that’s another story for another day.  There are a handful of things I’m passionate about, first and foremost, my children.  After that, gardening.  PinwheelsSo it didn’t take long to come up with a plan that would combine pinwheels and petunias.  Right there in the doctor’s office on that tissue paper they use to cover the examining table, I actually sketched a garden that would be filled with pinwheels and flowers – complete with a path for Joey’s wheelchair.  I could feel the adrenaline – yes, I was that excited.  If you aren’t the parent of a child with special needs, you will not understand what it’s like to stumble across something that your child loves.  Joey cannot tell me, “mommy, I really love (fill in the blank) can we go do/buy/see that”.  I have to rely on trial and error.  I have to hope and pray for those moments, like the one last week, where we discover pinwheels completely by accident.  And when that discovery happens, you will do everything you can to encourage it, to repeat it, to make it a part of your child’s life.  At least, I do.

This new garden already has a name, “Il Giardino dei Girandoli di Giuseppe“.  My next step is to get pinwheels that are weather proof to be placed in the garden.  I’m going to ask friends and family to help make this happen as I feel it will add sentiment to the garden and make it special.  I truly feel like a child on Christmas morning right now, I cannot wait to begin this latest project and then watch Joey’s face when he sees it for the first time. So yes, while having a child with special needs can be exhausting, frustrating and heart breaking it can also be inspiring, magical and breath taking.

I’m learning that not much about life is perfect.  There is no such thing as perfect kids, we don’t come from or have perfect families or perfect partners, perfect jobs rarely exist, but every once in awhile, we do get a perfect moment.  I think maybe the trick is to recognize this and to not only hold on to the memory of that perfect moment, but perhaps we need to try and figure out how to make more of them.  God willing, that’s what I’m going to do.

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“And I learned what is obvious to a child. That life is simply a collection of little lives, each lived one day at a time. That each day should be spent finding beauty in flowers and poetry and talking to animals. That a day spent with dreaming and sunsets and refreshing breezes cannot be bettered.”

~Nicholas Sparks

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“Above all, be the heroine of your life, not the victim.” ~Nora Ephron

7374813-frustration-just-ahead-green-road-sign-with-dramatic-storm-clouds-and-skySomeone once told me that life is only difficult if you make it that way.  I disagree.   I’m the first to admit that I can sometimes be a hot mess and a touch stubborn, but the events that led up to what happened today could have been avoided if people would just do their jobs – and care.   I should be used to this by now, I’ve been dealing with the health insurance and medical supply companies for almost a decade.  It’s almost always exhausting and frustrating.  Sadly, its continually shocking to me  how insensitive people can be to the needs of the disabled.  And it’s also a little shocking how they  still think they can simply tell me ‘no’ and  that I’ll just go away.

My little Joey was born with a terminal illness, Mitochondrial Encephalomyopathy.   Because of this disease, he is unable to walk, talk, sit, stand or swallow and has frequent seizures and intestines that can barely digest the most basic of formula.   Obviously, there is a great deal involved in his daily care. Obtaining what Joey needs to give him the best quality of life is difficult at best and like nailing Jell-O to a tree at worst.  Today was like nailing Jell-O to a tree….. during a hurricane….. while blindfolded…….with one hand tied behind my back……. while listening to Janis Joplin sing lullabyes.

January of last year, new parts were ordered for Joey’s wheelchair.  Upon approval from the dimwitted senseless idiots at the insurance companies, Joey would soon have a new seat, new foot rests and what we desperately needed, a new head rest.  The head rest was the key item in all this.  My little guy has no muscle tone – at almost nine years old he cannot hold his head up.  I had found the perfect head rest for Joey and couldn’t wait to finally have something that would support his head so it wasn’t constantly falling forward or to the side.  After months of waiting, the parts arrived last spring.  My excitement was short-lived when I saw that the head rest being installed was not at all like the one I had requested.  Let me take a moment and give you a more detailed description of how I felt.  Parents of disabled children mayIMAG5503-1-1 know all too well what I’m about to explain.   Imagine that for months you have planned a wonderful trip to Italy. It is long over due and the anticipation is almost more than you can stand.  Finally, it is time for your trip and after a flight that seemed to take forever, the plane lands and the pilot says, “thank you for flying our ridiculously over-priced airline, we hope you enjoy your stay in Herzegovina.”  I’m not exaggerating, that’s how disappointed I was.  See, children like Joey already miss out on many of the things a typical child is able to experience – things like playing hide and seek, running around during recess, football practice, sleep overs with best friends. So, when one of the few things he really enjoys – sitting in his wheelchair – is taken away from him, that affects me more than I can put into words.   No, that’s a lie,  I can put it into words – it really pisses me off!

This new head rest was smaller than the one I had wanted and it did not provide the total head support Joey needs.  The gentleman installing the headrest said Joey would do fine with it and suggested I order a neck brace to help Joey support his head.  Hmmm, how about you re-order the right head rest instead of trying to cover your mistake with another item we don’t need.   Apparently, that wasn’t an option and let me add, Joey did not ‘do fine with this head rest’.  Over the past ten months, I’ve made numerous calls and requests to National Seating & Mobility to replace Joey’s head rest, but I get the same response each time, “Insurance will not approve a new head rest at this time”.  Finally, last Summer a new head rest was ordered, or so I was told.  Months went by and I never heard from National Seating & Mobility (NSM) so Not ApprovedI called them.  Imagine my shock when I was very casually told, “oh, it hasn’t been approved”.   Really?  And just when were they going to call me and tell me this?  Joey hasn’t been in his wheelchair since August of 2012.  No walks in the park, no trips to the mall to see all the lights and people,  he can’t go outside with me while I garden and I have to carry him if we go anywhere – he is almost nine years old and weighs 45 pounds.  Needless to say, we rarely leave the house.

In December 2012, I again called NSM.   This time I was in tears.  I wanted to know why Joey still didn’t have a headrest.  I was told that the order would be re-submitted and they would call Joey’s doctors to get the necessary letters needed for approval.   On February 25, 2013, I sent an e-mail to NSM asking the status of the headrest – I received no response.  So today, I resent my e-mail – twice.  I finally received a reply.  It was very heartfelt and touching,  it said,

“NOT APPROVED AT THIS TIME”. 

No explanation was given and my follow-up e-mails asking for more details have so far gone unanswered.  I can almost guarantee you that the order was never placed in December.  Yes, I sound bitter and harsh.  Guess what?  I am.  But see, when a claim is denied, a copy is sent to the patient, the patient in this case would be my son.  We haven’t received such a letter and the phone calls I made today to a few of my son’s doctors have revealed that they were never asked to write letters requesting that Joey receive a new head rest.  Let me tell you, hell hath no fury like a mama who has been lied to about something her son desperately needs.

Remember that scene in Terms of Endearment when Aurora has waited patiently for the nurses to give her daughter, Emma,  the pain shot?  She first asks very politely and then proceeds to go a little crazy…. I can relate on so many levels to that type of emotional frustration where my little guy is concerned and I wouldn’t wish it on any mother.  I’ve watched as nurses forgot to give him all of his medications and then tried to tell me that I was wrong.  I’ve stood by his bedside and listened to his nurse call the doctor when his CO2 levels were rising and his respiratory rate was dropping and no one would come look at him.  I’ve been that mom that loses it in the hospital hallway because no one will do what they are supposed to do.  So you have to understand that my level of frustration over this headrest carries with it my having to deal with incompetent people on a regular basis.  Parents of children like Joey are already exhausted, we shouldn’t have to beg and plead for the most basic of things are kids need.

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I have learned through trial and error that when writing a letter that is fueled by emotion, it is best to wait twenty-four hours before sending it.  Yeah, well, that didn’t happen today.  With tears streaming down my face, I began writing and faxing letters to NSM’s corporate offices today.

IMAG1832-1  Since I couldn’t find the name of who my letters should be addressed to, I simply put it to the attention of “Someone Who Cares”. They have until tomorrow to respond.  Then I start making phone calls.  If those aren’t successful, I’ll make the four-hour drive to their offices to get my point across.  Honestly, a part of me hopes it comes to that.  I’ve done it before when Blue Cross wouldn’t cover Joey’s wheelchair.  Right or wrong, walking into a room wearing all black,  stilettos and my Sicilian attitude, seems to get the job done.  They really have no idea who they are dealing with.  I gave birth to both my children without drugs, made a hospital administrator cry when questioned about the below standard care my son once received and I deal with more bodily fluids on a daily basis than some nurses.  I don’t scare – at all.

My little guy probably doesn’t have too much time left, of course, I hope I’m wrong on that assumption.  Joey’s illness is progressive and there have been signs of its progression since October of last year.  So you see, I’ll be damned if Joey is going to miss out on seeing the world from a sitting position because someone didn’t order the right part.   Joey is going to get his head rest – and may God have mercy on anyone who stands in my way of making that happen.

That today has almost ended without me kicking or bitch slapping someone into next week  is a little surprising.  I guess there are days where you just have to embrace your little victories and start again tomorrow.

….I wonder which pair of stilettos I’ll wear?

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