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Stephen's Story

By Jana Monaco

Two years ago today, the world experienced a horrific tragedy that proved to change the lives of many.  I have watched and listened to footage of the many memorials held today in remembrance of the lost lives from the 9/11 attacks.  My heart relates to the same feelings of sudden loss and despair.  This anniversary creates a feeling of anguish for me, because it brings me back to that year when just a few short months prior to the terrorist attacks, we too suffered a devastating tragedy that has altered the course of our lives and has taken what we thought was our normal, happy and healthy three year old son, Stephen, and left him a severely brain damaged child.  He requires total care and has been robbed of the kind of childhood that every child deserves and it could have been prevented.   However, there are no memorials for him or for the many lives lost due to lack of Comprehensive Newborn Screening.

My dream of having three children came true when Tom and I welcomed our third son, Stephen, into the world on October 26, 1997.  Our 8lb 12 oz baby boy entered the world, with a robust cry, and was the picture of perfect health.  I felt so blessed to be part of another one of God’s miracles, and was awestruck at the sight of my beautiful son.  . While in the hospital, the nurse brought the usual paper work that proves to be a challenge for any exhausted new mom.   I asked questions where needed and I remember specifically having a few about the “pku” test as we all know it.   The nurse explained to me that it was standard procedures to run the test, but not to worry.  It was extremely rare that a baby should have this disorder and I had no reason to be concerned.   

Life was pretty typical for us and my days were spent finding a balance in caring for three children. Like his brothers, Stephen was an easy going baby.  He took to breastfeeding immediately and continued to do so for almost eighteen months.   I was diligent in recording all of his milestones on his 1st year calendar, as he developed like any normal baby does reaching all of his firsts.  My only concern with him was his resistance to trying new foods, which I repeatedly discussed with his pediatrician at his well baby appointments.  He was a picky eater and like all of the articles written about picky eaters, his doctor recommended that I continue to offer him various foods and eventually he will learn to like them.    Stephen was a lanky toddler but was considered normal in all areas of growth and development.  Being the youngest in a house of three boys, Stephen was determined to keep up with his older brothers.  He was a happy go lucky, little boy with a great big smile that enabled him to charm his way into the hearts and homes of many.  He loved to play with his cars and trains and watch endless episodes of Clifford the Big Red Dog.  His lifelong dream at age three was to be a trash truck driver or a French fry man.   These were the simple joys of an ordinary little boy. 

Even though he was not a sickly child, he was hospitalized at 18 months along with his big brother Alex, for severe dehydration due to Roto Virus.  They were both discharged after 24 hours, but it was clear that Stephen did not bounce back as quick as Alex did after a night of IV Fluids.  The doctor even questioned me in regards to his lack of response and lethargy.  Some of his labs were still a little off and he was still quite sluggish and not interested in eating.  However, he was discharged from the hospital with the understanding that he may have to return for more fluids if he continued to resist eating or drinking.  I was determined to avoid another hospitalization and so we did.  Life was back to normal and Stephen continued to develop as any child should. Little did we know that Stephen was a walking time bomb waiting to explode.   He was the typical younger child being toted to his big brother’s little league games and school activities, and always with a smile.  He ran with the big boys and climbed to the top of slides.   His eagerness to help in the kitchen was captured in a snapshot of Stephen at age three and a half, using a mixer to make his grandmother’s birthday cake on Memorial Day.  We followed it up with our usual walk to the nearby tot lot as he finally conquered the big slide on his own.  I remember thinking that day, as he repeatedly climbed the ladder and slid down the slide that my baby has turned into a real little boy.  How could I have known that that was to be my last trip to the tot lot with Stephen and that a series of events were about to occur that would  challenge every ounce of strength and courage that we had?

 His little body could no longer hide the life threatening disorder that lurked within him.  The next day, May 30th,   Stephen woke up with what appeared to be a typical stomach virus that most children catch and I treated it as such.  He vomited a few times and was very lethargic, but I wasn’t too concerned.   I encouraged him to suck on a pedialyte ice pop to replace some lost fluids but it didn’t stay down.    I called our pediatrician to prescribe something for the vomiting to prevent him from getting dehydrated, but it was too late.  Stephen’s vomiting subsided that evening and he slept most of the time, but within his body, was a silent process called catabolism fueled by dehydration taking place.  When he awoke around 2 am to go potty, I thought he was on the upswing.  I gave him some more of the pedialyte ice pop, and then he said “mommy I want to go back to my bed”.  I tucked him in and we said I love you to each other and that was the last time he would say those words to me. 

After seeing my other boys off to school, I went in to check on Stephen and I was about to find him in a state that no mother should ever have to endure.  When I walked into his room, Stephen was lying in his crib breathing incredibly fast with his eyes half way open with a distant gaze.  I repeatedly called his name but he did not respond.  When I picked him up my precious child felt like a floppy rag doll with his teeth clenched tightly together.  I realized that something was terribly wrong.  I tried to remain calm as I called his pediatrician.  And after speaking with him we decided that it was best for me to call 911 and have him brought to the hospital.  I kept thinking to myself that this is like the last time, but worse.  Since he bounced back then, he should be fine this time too.  The paramedics arrived and acted quickly.  It took three attempts for them to get his pulse rate because it was so fast and his glucose was extremely low.  They asked if he was a diabetic but of course I said no.  They put him on some oxygen and started IV fluids by the time they left for the hospital.   Tom met me at our nearby community hospital where the doctors began to administer a multitude of tests and ask a series of questions.  They knew he was severely dehydrated, but could not determine why he was presenting in such a state.  They could not pry his mouth open and he continued to be unresponsive.  A CT Scan was clear but the doctors were truly concerned.  Each time a different doctor arrived we repeated the question and answer regiment reminding them that we were there two years ago for the same reason.  A few hours had passed and Tom and I did our best to remain calm as they indicated that Stephen needed to be monitored in a pediatric intensive care unit.  The nearest one was a half hour away and a transport team was on its way.  We still had no clue as to the seriousness of Stephen’s condition.   Once again, I accompanied Stephen in the ambulance where they were already in contact with the PICU.   We went directly to the PICU where a team of doctors and nurses were standing by prepared to assess Stephen.  Strangely, I felt a little relieved, because I felt that Stephen was in a place where they would know just what to do to help him get better.  As frustrating as it was, we had to answer the same questions all over again.  If it was going to help Stephen, we didn’t mind.  Finally, as the staff attended to him, the intensivist told us that he suspected that Stephen had a metabolic disorder and was suffering a metabolic crisis.  Of course, this meant nothing to us.  All we knew was that our son was dehydrated from a stomach bug.  A geneticist entered Stephen’s room and introduced herself. We were puzzled as to why she was there, but she explained that Stephen’s condition was not merely a result of dehydration but that there was an underlying cause.  She too had a long list of questions, some of which we found very strange.  She asked us if there was any chance that Tom and I were related.  By the looks on our faces, she had to ask us again, explaining that a metabolic disorder is a result of both parents having a recessive gene and each passes it on to the baby and that the one they were suspecting that Stephen had was extremely rare.     We found ourselves getting a crash course in biochemistry and Isovaleric Acidemia (IVA) became a part of our daily vocabulary for the first time.  It is an inborn error of metabolism, where his body lacks the enzyme to break down the amino acid leucine.   It is a by product of protein which produces isovaleric acid.  We learned that each year, one in a thousand babies is born with one of these disorders, and only 1 in 50,000 babies are born with the one in which they believed affected Stephen.    I stayed by Stephen’s side that night watching him become extremely irritable over time.  We thought he was improving, but by morning what we thought was him drifting off to sleep, was him drifting into a coma.   With every hour that passed, our anxiety levels increased.  We could see the concern in the doctor’s eyes and due to his lack of response; they decided that an MRI, an imaging test that would take pictures of what’s going on in the brain, was the next course of action as we waited for the lab tests to come back.  As the team prepared Stephen for the MRI, I noticed his little body that lay still, become very rigid followed by convulsing.  Stephen was now having a seizure.  The room was suddenly filled with nurses and doctors and we were forced to step back feeling completely helpless.  Within minutes, the seizure had subsided and they rushed to get the MRI.  After an hour, they had returned to his room informing us that he had suffered another seizure in the MRI.   We also noticed that Stephen’s lips looked blue and Tom asked that question allowed.  Within seconds the room again became filled with doctors and nurses as Stephen had stopped breathing and was “crashing” on us.  We found ourselves authorizing one procedure after another within minutes, as they rushed to save his life.   I can still remember the adrenalin rushing through me and my knees feeling like they were going to buckle under me.  By the time the medical personnel were done, Stephen had tubes coming out from all parts of his body and was on a respirator.  In other words, he was on life support.  A sight that remains etched in our minds today.  With dehydration, the elevated levels of leucine and isovaleric acid become toxic.  The MRI results came back revealing swelling around Stephen’s brain stem due to the acidosis.  We now had a neurologist on board to discuss the MRI findings.  All we could process was that if our son made it through the weekend, he would not be the same little boy that we once knew and loved. Our world began to fall apart as we were now in a state of shock trying to grasp what was happening to our child. 

We were fortunate to be surrounded by family and friends.  Our parish priest arrived to anoint and confirm Stephen as we are very strong in our Catholic Faith.    He sat and prayed with us and for us by Stephen’s side.  Throughout the weekend, we kept a constant vigil by Stephen’s bedside, hoping and praying for any sign we could get from him.  Anything we did see and report to the doctors, was just reflex.  Monday came and another MRI was scheduled.  It did not take long for the results to come back, and with the waiting room filled, we sat in Stephen’s room.  By the expressions of the intensivist and neurologist, we knew the news was not good, but no parent can possibly ever brace themselves for what we were about to hear.  The MRI revealed extensive damage throughout Stephen’s brain.  We were faced with the fact that if he survived, he would remain on the ventilator and in a coma.      It took three nurses, as they tried to hold back their tears,  to position his limp little body and all of his tubes,  into my arms so that I could hold and rock him. I just sat and cradled him and cried.  Our other sons were brought in so that Tom and I could let them know what was going on.  It was difficult to find the words, but with the help of our priest, the social worker, and senior resident, we were able to break the news to Nicholas and Alex in a manner that they would somewhat comprehend at the tender ages of  ten and seven.  Now that their world was shattered too, the devastation began to sink in, and all we could do was sit by Stephen’s side and pray as family and friends flowed in and out of his hospital room.    The senior resident was instrumental in helping us to pick ourselves up, and gather our thoughts.  We decided to become proactive and seek second opinions in regards to Stephen’s condition.  Another neurologist said to give him another week and see if we see any changes, for children need a little more time.  So that’s what we did.  We watched him around the clock and grappled with all our options, which weren’t many.  We prayed as each day brought only reflexes from Stephen.  As each day passed, it seemed like we kept running into dead ends.  While trying to come to terms with Stephen’s condition and prognosis, we were also discovering that this whole situation could have been avoided.  As a mother, I blamed myself.  I kept replaying the days leading up to his crisis and wondering what I could have done different. Learning that had Stephen been tested at birth for this disorder and that had it been diagnosed with his previous hospitalization, would have prevented such a crisis was more than we could swallow.  Of course we questioned why the disorder wasn’t detected last time.  Unfortunately, we were told that the physicians and the hospital acted within the standards of care for a small community hospital.      The more we learned about metabolic disorders and this particular one, IVA the more I sat and gazed at Stephen feeling like I had failed him as a mother.  Hind sight is brutal.  I thought the strange odor that I smelled at times was just a soaked diaper that desperately needed changing.  I didn’t know that it was a characteristic of the disorder known as “sweaty sock” odor.  I didn’t realize that Stephen avoided high protein foods like milk, eggs and meats, etc…because they didn’t make him feel good.  I thought he was just a picky eater.  “You had no way of knowing”, is what we were constantly told, along with  “these disorders are so rare that most physicians aren’t aware of the symptoms and characteristics.”  We had a lot of information put forth to us in a short amount of time that made us begin to question, “Why?”  By this point, we were into week two and we found the courage to say “OK God”, we’ll let him go if that’s what you want, and that’s what we prepared to do.    Miraculously, the very next day, a rehab doctor came in and reviewed Stephen’s chart and examined him.  He told us that he saw enough changes in Stephen that warranted him a chance at rehab.  It was as if God had sent an angel to us.  Time was on Stephen’s side because of his age.  From that point on, Stephen’s breathing improved daily and we had a gastrostomy tube inserted in his stomach for feeding.   Three and a half weeks later, Stephen was emerging from the coma and was taken off the respirator.  A week later he was transferred to the Kluge Children’s Rehab Center in Charlottesville, Virginia.  He and I spent six long weeks there, where he endured daily therapy and care to get his body well again.   We finally got to bring Stephen home on the 7th of August, but not without fear and trepidation.  Although he was doing remarkably well, Stephen’s care was now very involved.  After the first night home, I sat in his room and had a good cry as I faced reality.  There was so much to deal with, formula and feeding pump, medications, wheelchair, therapies, etc… the list went on. 

His diet consisted of three special formulas to meet his nutritional needs and accommodate his metabolic requirements, fed through his G-tube.   It has not changed much, since Stephen can not take anything by mouth yet.  He does not have the ability to walk, talk or sit up.  He is legally blind, but has strong hearing.   Because of his neurological status, simple hiccups become a health issue for him requiring an overnight hospitalization on occasion.   Thanks to a medical fund established for Stephen, he has been getting Hyperbaric Oxygen Therapy along with traditional home therapy for the past two years.  We have also begun a specialized therapy based on patterning techniques that we do at home with volunteers.  Between therapy, love and time, Stephen has made progress.  He is very aware of his surroundings and familiar people.  He can smile and laugh and lift his head up now.  He likes to be tickled and is more expressive overall.  We are working very hard with his doctor’s and therapists to provide Stephen with optimum opportunities to develop to his maximum potential.  As the neuropsychologist told us early on, “this is a marathon, not a sprint”.

We do not fool ourselves in any of this.  Life is not easy for us.  It takes all the courage and strength we have to face the fact that we have been robbed of so much with our son, along with all the limitations that we are forced to live with.   We must battle with insurance at times to continue Stephen’s therapy, as well as dispute medical expenses.      At times, our days are filled with either doctor’s appointments or therapies.   We do the best we can to provide a sense of normalcy for our other children, but it will never be the same.  We can not just pick up and go like everyone else, nor can Stephen be a part of everything we do.  It’s easy to be bitter at times, because we know life would be different if Stephen had benefited from Comprehensive Newborn Screening at birth.   It was astounding to us to find out that 1,000 babies are born in the United States each year, with a metabolic disorder.   If detected early, they can be treated with diet and medications, and have the chance at a normal life like every other child.   The fate of these babies is determined by what state they are born in, because each state has the freedom to choose which disorders it wants to screen.  It is so unfortunate for our Stephen and so many other children that there is no mandating for Universal Screening.   To our dismay, Stephen’s destiny was already written because he was born in Virginia, where babies are screened for only eight of these disorders and IVA isn’t one of them.  Had he been born in our neighboring North Carolina, where their screening list includes 36 disorders, Stephen would have been on a bus for kindergarten this year instead of having an IEP done for special education.  Gone are his opportunities for Little League, playing with friends, riding ocean waves and building sand castles or going to college.  Instead of the little red tricycle that I had planned to give him for his fourth birthday, it was substituted for a wheelchair.  Why?  Because the elected officials that run are government along with the very same health system that we all entrust our care, continue to debate the issue of whether it is cost affective to implement Universal Newborn Screening,  which would require mandated screening for all disorders in all states.   It is a travesty that Stephen is a statistic at the hands of beaurocracy and lack of knowledge within the medical and legislative fields.   It amazes us even more to know that 1,000 babies every year go undiagnosed or misdiagnosed for these disorders due to the lack of screening or simply because our medical profession is not adequately educated on this subject.  While they continue to debate the issue, more babies are going to die and children are going to share Stephen’s fate.  We are fortunate to live in a time where medical technology has developed an innovative way to screen for these disorders, called Tandem Mass Spectrometry.    A mere $25-$40 is what it costs for the additional screening.  That runs through my head every time I get an insurance statement for the hundreds of thousands of dollars that it has cost for Stephen’s medical care, since his crisis.  The life of my Stephen along with the lives of the other thousands of children should not be so devalued in a society where our constitutional rights are supposed to guarantee us equality.  The rate of incidents may not be as high as those of other diseases like cancer and diabetes, but they are there and the technology to diagnose them already exists.    Most important of all, the treatment for most of these disorders is already in place with diet and medication. It is imperative that this knowledge be taught to physicians practicing medicine and those in training.   Awareness must begin with educating physicians.  Pediatricians along with physicians in general should especially be educated on these disorders and know the presenting symptoms, so that they can make a diagnosis early on.  They need to be informed of available protocols or treatment plans, since prompt treatment is crucial for a healthy outcome. We are all at risk of having a child with one of these life threatening disorders, since it is not common place to do DNA testing on everyone to analyze our genes. With every seizure that Stephen has and each time he is hospitalized or every time one of my other sons says “we can’t do things like we used to because Stephen got sick”, I wish the people that dispute Universal Newborn Screening would spend 24 hours in my home and then tell me it isn’t justified. 

A testimony to the significance of early detection is our one year old daughter Caroline.  With the knowledge we gained from Stephen, Caroline was diagnosed with the same disorder with prenatal testing and confirmed at birth.  Early diagnosis enabled doctors to go into full force establishing a protocol of care to be implemented at birth.  I was induced a week early and Caroline was taken to the neonatal intensive care unit after delivery, where she immediately received IV fluids and her first dose of Carnitine.  She was then transferred to Children’s National Medical Center in Washington, DC enabling the metabolic doctors to directly oversee her care.  They started her on formula within hours for calories and later added the leucine- free formula.  Instead of losing weight, Caroline gained, which is what the doctor’s wanted.   She was discharged after only three days in the NICU, because she responded so well to treatment and she has done so ever since.  Today, Caroline is a beautiful, happy, healthy and energetic one year old, thanks to early detection.  To our dismay, we have been referred to as the poster family for Universal Screening, and because of this, we have chosen to be proactive in the quest to raise awareness and aid in the mission to get Universal Screening mandated.   We are determined not to let Stephen’s suffering go in vain. 

Over the past two years, we have received a great deal of support and wealth of knowledge from the Organic Acidemia Association, a support group for families of children with metabolic disorders and The Save Babies Through Screening Foundation, whose mission is to raise awareness for Comprehensive Newborn Screening.  We have attended a senate subcommittee hearing with Senators Dodd and DeWine who are working on passing a bill under the Children’s health Act of 2000 that will provide funding for states to implement a comprehensive screening program.  We have done two news stories to help raise awareness to others and we will continue to do all that we can until the mission has been accomplished.  Although Stephen has suffered severe brain damage, and dreams have been lost, we know that his life has a purpose and we will see to it that it is fulfilled. 

Copyright by Jana A. Monaco 2003.  Permission to forward, copy and post this article is granted so long as it is attributed to the author.

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