Tag Archives: Mitochondrial Disease

Every Child Is Gifted, They Just Unwrap Their Packages At Different Times…

Until you are the parent of a child like my little Joey, you may not fully comprehend what it’s like to have a school like the Linda Nolen Learning Center for your child to attend.  These are not your typical teachers – not by a long shot.  They ride in ambulances when one of their students is rushed to Children’s Hospital, they deal with almost as much bodily fluids (and I mean from ALL ENDS) as the parents have to at home.  And even though they may have less than ten children in their class, they all have varying and often multiple disabilities – many requiring medical equipment, wheelchairs, walkers, etc.  They have to know how to communicate with these children who are non-verbal – and they are able to, understanding what their different facial expressions, moans and sounds mean.  Seizures are a daily occurrence, along with emotional melt-downs and outbursts.  I’ve seen first hand how they interact with the students and it’s like they are their own children, it is the closest thing to a Roseanna Borellifamily outside of my own that I’ve ever encountered.  What I love most is that they do not see Joey’s disability; rather, what he may be capable of doing.  Goals are set, limits pushed, small victories celebrated with the enthusiasm of a child on Christmas morning.  They are somehow able to tap into each child’s creative outlet coming up with wonderful & stimulating activities that I would never have thought of and they let each child express themselves freely.  It’s not unusual for Joey to come home with green paint under his fingernails or Kool-Aid stains on his shirt from a painting project gone wild.   The teachers at LNLC put into practice what I’ve always believed about children, regardless of their ability, and that is, that every student can learn, but it just might not be on the same day or in the same way. 

There are very few, and I mean very few,  people I trust Joey with and I can honestly say that while he is at school, I don’t worry.  Well, ok, I worry; I’m a mom, that’s what we do.  But I never question if he is being loved and cared for.  Personally, I have a special place in my heart for all teachers; I think like nursing, it’s a calling.  You obviously don’t enter teaching to become a millionaire. But to work at a school like LNLC requires a level of love, patience and compassion that leaves me speechless.  I’m impressed with everyone at LNLC – from the lady at the front desk who Joey flirts with incessantly, to the counselor, the nurses (yes, Joey flirts with those two as well), the teachers, administration …even the janitorial staff – they all know these kids and interact with them.  But most importantly, the students know they are loved – hugs and smiles are never in short supply.

The staff at LNLC is nothing short of amazing and today I felt the need to share that with everyone.

Something to think about….

“If a doctor, lawyer, or dentist had 40 people in his office at one time, all of whom had different needs, and some of whom didn’t want to be there and were causing trouble, and the doctor, lawyer, or dentist, without assistance, had to treat them all with professional excellence for nine months, then he might have some conception of the special need teacher’s job.” ~D. Quinn

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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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“All the knowledge I possess everyone else can acquire, but my heart is all my own.” ~J. Wolfgang von Goethe

I don’t particularly care for Valentine’s day.  No, I’m not bitter and yes, I received plenty of Valentine cards throughout grade school.  Actually, I’m a hopeless romantic and love being in love. I just don’t like the idea of the media and Hallmark telling us that once a year we need to profess our love for our significant cupid_deadother.  I’d rather receive flowers for no reason, not because a date on the calendar says it is time to show me how much you care. That being said, I always purchase a card for my mom, godmother, daughter and my little boy.  I blame my mom for this – that woman would send her loved ones a card for Groundhog Day if there was one (and I’m sure somewhere there is) and now I have carried on that tradition.  I love receiving cards via snail mail but it saddens me that sending cards is becoming another casualty of our advanced technology.  Like the lost art of writing, receiving a card in the mail will be something the next generation reads about in the history books.

As a mom, I’ve always enjoyed the homemade cards that my children would make in school.  My daughter is now 18 and will be going to college soon, so the days of homemade cards with hand prints and finger paint are gone.  But she almost always remembers special occasions with a card for me and surprised me this year with a very touching hand written letter commemorating our 18th Valentine’s Day together.  For those of you that don’t know, my little boy, who is now 8, is severely disabled.  A recent progression of his illness has made it impossible for him to return to school.  So there will be no more handmade cards coming home in his little backpack from school.  I realize he never made the cards entirely on his own, he physically can’t, but there was always a part of him in those little cards that he made for me.  Since he isn’t in school anymore, I assumed this year someone in my family would help Joey make a card for me – or even buy one and sign his name to it.  As anxious as a small child on Christmas morning, I waited for the mail to arrive and when it did and there wasn’t a card from my little guy, I was sad.  No, I was heartbroken.  Silly, isn’t it?  We are talking about a holiday almost solely created by marketing geniuses whose mascot is a fat cherub with a weapon.  But none of that mattered.  It was about 10:00 p.m. on Valentine’s Day when I realized that I wasn’t going to get a card from my son.  I was embarrassed by the tears running down my face, but I have a rule that I will never apologize or feel foolish for how I feel, no one should.  Those are your feelings and you own them.  I couldn’t help how I felt, and I know that those tears were much more than not getting a card from my384817_2690790633323_1363220575_33078379_157696294_n little boy.  Some of the tears were because he missed exchanging Valentine’s with his friends at school – and probably would never do that again.  Other tears were because I will never hear Joey tell me that he loves me.  There were tears because I wonder if he understands how much I love him when I whisper to him, “I love you” countless times throughout the day.  A few tears were because I can’t do a damn thing to stop this disease and all the things it has robbed my sweet boy of.  Walking, talking, standing, sitting, swallowing – he knows none of that.  I was crying because I wanted a card from my little guy, even if someone else bought it and signed his name to it – I wanted a card that Joey had at least touched.  Something I could look back on when he’s no longer here.

I read once that life will break your heart.  It’s true.

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