Isabella Nicole Kurek
2006 & 2007

Once again, time seems to have escaped us; it has been one and a half years since our last update.  Isabella’s condition has remained incredibly stable, while around her, life has changed in many ways.  When I read the earlier parts of her story, I am surprised by the angry and bitter tone of the words.  Understandably, those were the emotions we were feeling at that point in our lives.  We were consumed by the single minded focus to bring Isabella, and ourselves, through the crisis we found ourselves in.  Now, life seems to have reached a more comfortable equilibrium and some of the frustrations have eased.  I hope the tone of this portion of her story will reflect that.


Our first major improvement occurred a few months after our story left off, in the spring of 2006.  I was able to trade-in my tiny station wagon for a slightly-used minivan.  With all the traveling back and forth to doctors’ appointments, the van soon became invaluable.  Isabella has always enjoyed traveling and loves her new ride.  Her modified stroller folds and fits perfectly in the back and there are plenty of power outlets to feed her ventilator and suction machine.  For the first time we have all been able to travel in comfort and convenience.


We began seeing a pediatric orthopedist in March of 2006.  Their offices were a part of the Connecticut Children’s Medical Center (CCMC) in Hartford.  Originally, we only went there to monitor Isabella’s scoliosis, but we were soon introduced to two additional departments which proved to be very useful: orthotics and PT.  Orthotics fit Isabella for a thoracic brace which she wears when she is sitting for extended periods of time.  We thought she wouldn’t like wearing it, but she actually does!  At one of our visits to the CCMC we were encouraged to visit Scott Vanepps in the PT department to discuss a power wheelchair for Isabella.  Given our lousy insurance benefits and the $30,000 price tag of the chairs, we went to the appointment with trepidation.  We knew we would love the chair but we were afraid we would never be able to afford one.  Scott had a demo chair he allowed Isabella to “test drive” and she fell in love with it (and Scott) immediately.  The smile on her face when she drove for the first time was one we will never forget.  It was amazing to see a two year old driving all by her self.  After two years of being completely reliant on others, she was so excited to be able to move on her own.  Regardless, we left the appointment discouraged.  We were teased by the possibilities and mocked by the financial realities. Scott assured us the wheelchair companies were very proactive in securing financial support for families in need and it turns out he was right!  Nine months later, out of the blue, we got a call telling us that a chair had been found for Isabella and that money had been donated to cover it.  It was delivered to her shortly before Christmas of 2006.  Santa came through in a BIG way.


In July of 2006 Isabella was evaluated by the speech pathology department at Southern Connecticut State University in New Haven.  She spent the day working with many different speech programs and devices.  Her results showed she was best suited to use the DynaVox unit, an amazing hand held device activated with finger switches.  Again, the $6,800 price tag was too much to swallow.   Based on these recommendations, our Birth to Three program was generous enough to provide Isabella with a slightly scaled down communication device consisting of her very-own lap top computer outfitted with Speaking Dynamically Pro.  Looking back, it was a great choice.  She not only uses the computer to assist with her communication, but she also uses it to surf the internet… something she discovered all by herself, much to our surprise.  We didn’t even realize she had a wireless connection until we found her playing on one day.  Now she is a computer wiz, zipping around through her games and programs using a small roller-ball mouse with one hand and a “left click” switch with the other.  Yet another reason the computer was a better choice for Birth to Three, shortly after receiving it, our friends at CCMC donated a DynaVox to Isabella through an outside charity.  Now she has the best of both. 


The next incredible gift to fall into our lap arrived complements of the Make a Wish Foundation.  Isabella was nominated for a wish by our nurse, Michelle, in July of 2006.  We met with the foundation and chose a Disney vacation as Isabella’s wish.  After extensive planning and red-tape, her wish was granted in April of 2007.  We were driven to the airport in a stretch limo and flown to Florida.  There, we spent a week at “Give Kids the World”, a special-needs resort, outside Orlando.  We visited Disney World, Animal Kingdom, and Sea World.  Isabella’s favorite part of the trip was a special visit from all of the Princesses.  We all had a wonderful time and were impressed by the thoughtfulness and care shown by the Make a Wish Foundation and the staff of the resort.  It was a trip we will always remember.


Over the last year and a half, Isabella has actually traveled quite a bit.  In addition to our Florida vacation, we have driven to Maine twice to spend time with family.  While there, Isabella enjoyed her first whale watching excursion off the coast of Bar Harbor, explored the trails of Moose Point State Park, and luxuriated in the peace and quiet of a comfortable home in the woods.  For the last two years we have also traveled to the yearly Connecticut SMA Picnic held at Camp Harkness (a beautiful handicapped accessible park on the northern shore of Connecticut) and the SMA benefit walk held in Hamden, CT.  Both events are always a lot of fun and a great opportunity to see old friends. 


One of the biggest changes for Isabella this year was her transition from Birth to Three into the Norwalk Public School system.  We had been very happy with her care from Birth to Three and were worried about the school system’s ability to maintain it.  Looking back, we have had some ups and downs, but overall we are happy with the transition.  She now receives less hours of PT, OT, and speech therapy compared to before, but it would be unrealistic to expect more.  In September of 2007, Isabella started preschool at Kendall Elementary in Norwalk.  She spends half a day, three days a week, and couldn’t be happier.  She loves riding the school bus and interacting with all the other children.  Most days she is accompanied by her nurse, but occasionally I am able to take her instead.  While enrolled in school, she receives all of her therapies in the classroom; we no longer benefit from home visits.  For now, we are thinking of keeping her home through the winter, when the risks of infection will be their worst.  We hope for a full year of kindergarten next year.  The Norwalk Public School system had a beautiful, brand new manual wheelchair just the right size for Isabella.  The chair had been purchased for another student but was never needed.  They gave it to Isabella and are allowing her to keep it for as long as she is in the system.  She can even use it through the periods when she is not attending school and through the summers.  This chair quickly replaced her modified handicapped stroller (which she was fast out-growing) as our primary mode of transportation when we take her out and about.  Unfortunately, our van still hasn’t been modified to accommodate her power chair, so we are unable to travel with it.  Luckily, this new manual chair has left us with an alternative.


Once Isabella’s power wheelchair arrived, we soon realized how badly the house needed a ramp.  Without one, the wheelchair was of little use.  As much as Isabella enjoyed driving around the living room, we all looked forward to the day she could travel beyond the confines of our home (and, hopefully, one day, into the van).   Once again, the generosity of our friends and the community helped us when we needed it the most.  In the summer of 2007, Isabella received a grant from The Angelo James Magliocco Foundation, a local charity providing support to families with SMA.  This money, along with that collected by our friend, Adrien Zap, and her “Waves of Hope” long-distance swim races, helped to finance the materials for the ramp.  The labor was very generously donated by our nurse, Michelle, and her family. 


Our struggle with the insurance company is one thing that has remained constant.  In March of 2007 we were placed into collections by our homecare provider, Apria, for over $36,000.  This was a surprise, given the fact that we had never received a bill from them… just a call straight from the collection agency.  It turns out Apria was billing the insurance companies and when they stopped paying, the account was placed in collections under our name.  Apria was charging nearly $2,200 each month for the rental of two ventilators.  When the insurance benefits became exhausted, the costs fell to us.  The problem was that Apria allowed almost two years of billing to accumulate before ever notifying us we were being charged.  In order to maximize our insurance benefits, we learned very early on to purchase our own suction machines, feeding pumps, and nebulizers.  The only medical equipment we need supplied is the ventilator.  And still, the benefits don’t cover it.  When we realized we wouldn’t be able to afford to rent two ventilators, we began looking to buy our own. 


Our friends at the CCMC suggested we visit an equipment exchange service in Hartford called the NEAT Market (New England Assistive Technology Marketplace).  Originally, we visited them looking for a replacement battery for Isabella’s power chair.  Not only did we find a battery, but we also came across a treasure chest of suction catheters and a brand new nebulizer.  Just on a whim, I asked the staff if they ever get any ventilators donated.  The gentleman answered that in eight years of working there, not a single ventilator had been seen.  Not surprised, we moved on to look for a box to pack up our catheters.  Then, in a moment right out of a storybook, we heard the gentleman say “Guess what I just found!” while rummaging through some empty cardboard boxes.  We thought maybe another box of catheters?... but as he emerged from the rubble holding up a ventilator, our jaws fell to the floor.  Not only did he have a new ventilator, but it was the exact same model Isabella currently uses.  We were looking through an area of recently donated items that had yet to be inventoried or priced.  Nobody knew the vent was even there yet.  Since it didn’t have a price assigned to it, the gentleman asked, “How does $100 sound?”  It sounded too good to be true.  We collected our goodies, paid our hundred dollars, and got out of there as fast as we could.  To this day, we still can’t believe how lucky we were for that ventilator to fall into our laps.  We are now able to return one of the $1,100/month vents and use our own as the backup.  Finding someone to service a privately owned ventilator has opened up a whole new can of worms, but that story is still unfolding.


Despite our miracle ventilator, we were still left holding a $36,000 tab, compliments of Apria.  We contacted the Child Advocate for the State of Connecticut, a government office protecting families against the powerful insurance companies and homecare providers. The office mediates disputes and encourages insurance companies to work with families and providers in an effort to achieve what is best for the patient (imagine that).  They have proven to be an incredibly helpful and sympathetic resource.  By working with the Advocate we resolved our debt to Apria.  Their office also helped us to maximize our nursing coverage by modifying the insurance company’s definition of a “shift” from 4 hours to 12 hours.  The Child Advocate continues to be an incredible source of support for Isabella and our entire family.


Through the last one and a half years, Isabella’s health has remained fairly stable.  We are very happy to report that since her initial discharge from Yale, we have had no need for additional hospitalization.  We continue to see both her pulmonologist and gastroenterologist every 4-6 months on a recheck basis.  The gastroenterologist monitors her weight and adjusts her formula and water intake.  The pulmonologist helps us fine-tune the dosing of her multiple inhalant medications and modifies her vent settings based on yearly sleep studies performed at Yale.  Although Isabella has been able to avoid any further episodes of pneumonia, her chronic, fluctuating tracheitis has remained our largest medical problem.  Since her trach was placed over three years ago she has been struggling with this on and off, low-grade infection.   She alternates between antibiotics based on periodic cultures and is very rarely without some sort of treatment. 


Our one and only trip to the emergency room with Isabella had nothing to do with her respiratory condition.  One day in October of 2007, she suddenly seemed very painful around her left leg.  This was unusual because of her two knees, the right one had always been the one that had less range of motion and was the quickest to become stiff and sore.  We knew from previous x-rays that Isabella’s hips were very weak from the lack of use.  We were concerned that she had possibly dislocated the left side.  We took her to the emergency room that morning and were surprised to find that she had actually fractured her left thigh bone, just above the knee.  With absolutely no history of trauma, we were left wondering how this could have happened.  Again, we understand her bones are weak and fragile from disuse, but the break still seemed unusual.  Initially, the doctors wanted to transfer Isabella to Yale for possible surgery, but we felt that was too aggressive.  Isabella is never going to walk and a surgical repair, with the necessary hospitalization, was something we felt we could do without.  Luckily the orthopedist agreed and was willing to treat her with a simple cast.  Isabella was such a trooper throughout the process.  She kept her cast on for three weeks before transitioning to a soft splint for an additional couple of weeks.  At this point, she has completely healed but we are still left without an answer as to how the break occurred.


Even though we consider Isabella medically stable, we have seen slow deterioration of her strength and stamina.  Her ventilator support has increased and her voluntary muscle movements have deteriorated.  We understand that SMA is a progressive disease and we expect to see these slow changes.  Overall, we are thrilled with her condition as she continues to exceed all expectations.  When we first learned of her diagnosis, most of the information available suggested she wouldn’t live beyond two years.  Obviously devastated, our expectations were low.  But now when we look back at the articles, the statistics, and the stories of individual children, we see that these were predominantly about patients that were not treated “aggressively.”  Very few, if any, were trached and provided with ventilator support.  We are certainly in no position, nor presume to judge the decisions made by other families affected by SMA.  Every patient is different, as are the family values and circumstances surrounding that patient.  I only wish there had been more information available regarding the prognosis of children treated more aggressively.  It would have been comforting to have known then, what we have grown to know by simple experience, now.  I hope Isabella’s story can serve as a testament and provide a source of support for families considering their treatment options.  As Isabella’s fourth birthday quickly approaches, we continue to look to the future with cautious optimism.