Isabella Nicole Kurek
The Beginning

I was thrilled when I first discovered I was pregnant with my second child.  We had been trying for over a year.  I even started seeing a fertility specialist and had begun the first round of testing.  This pregnancy was a little different from my first one.  I felt pretty sick for the first four months; the nausea and vomiting just wouldn’t stop.  The baby, however, seemed healthy and there were no concerns. Everything was normal on my first ultrasound and we were pretty sure it was going to be a girl.  I was so excited!

In early December, around my seventh month of pregnancy, I started to experience some changes.  My body started swelling.  My ankles became so swollen that I couldn’t even wear my shoes.  I also experienced awful headaches and nausea, but I saw my OB/GYN regularly and there were no obvious problems.

On December 25th we had Christmas dinner in our home.  The entire family joined us and we had a wonderful time.  I started experiencing my first contractions early in the day.  At first I thought it was just a false alarm; I wasn’t due until the end of January.  As the contractions became more frequent, I called the hospital and they told me to come right down.  Since I was already in my 35th week, they wouldn’t try to stop the labor.

I arrived at the Emergency Room around 10 pm and was admitted right away.  My blood pressure was very high (175/150).  The monitors showed very mild contractions, but upon exam, I was already 8 cm dilated.  The doctor told me I was suffering from toxemia (pre-eclampsia) and they were going to have to induce me.  The resulting contractions were awful, but after only three of them, I was ready to push.  An episiotomy allowed things to move along faster.  And then she came… my beautiful, baby girl.  5 lbs, 1 oz, 18 inches long; the tiniest and most precious thing I had ever seen.  We named her Isabella Nicole.  She was perfect!

We had to stay in the delivery ward for observation for the next 24 hours.  My blood pressure was still very high and they were worried that I may seizure.  We were finally released on Sunday, December 28th, 2003.  I was still on medication and suffering from periods of dizziness, but I couldn’t have been happier to be home.  Isabella’s big sister was so proud and completely adored her right from the start.

When Isabella was one month old, she contracted RSV.  We avoided hospitalization but had to treat her at home with Xopenex in a nebulizer every 4-6 hours.  Her cough started to improve almost immediately.

At her two month check-up, the pediatrician noticed some laxity in her hips and we were referred to an orthopedist.  I was worried she may need to wear supportive braces, but everything turned out to be normal.

One day I was changing Isabella’s diaper and noticed a huge bulge in her left groin area.  I immediately saw the pediatrician and was referred to a pediatric surgeon for an inguinal hernia repair.  The day of surgery was awful!  I was so scared that she wouldn’t make it through the procedure.  It was the longest hour of my life.  Little did I know at that time.  If I only knew what was going to happen next…

At her four month check-up, I mentioned that she seemed to be breathing very hard and that she wasn’t rolling over or holding her head up yet.  The pediatrician recommended we start physical therapy, but I wasn’t ready.  I thought she was just weak from the surgery and that if we gave her enough time, she would catch up on her own.

Two months passed by… still no rolling over.  I also noticed she wasn’t moving her legs much and thought there had possibly been some nerve damage as a result of her surgery.  I was really starting to become concerned about her.  When we saw the pediatrician at her six month check-up, he referred us to a neurologist.

As soon as we saw the neurologist, it was obvious he knew what the problem was.  He kept asking me questions, which at the time, I thought were pretty weird.  The following day blood was drawn and tested for muscle enzymes and SMA.  I tried to get some answers from the neurologist about the disease, its progression and prognosis.  He avoided answering all of my questions and just kept telling me that we shouldn’t jump ahead of ourselves and wait for the results.  He also told me that for the follow-up exam and review of the test results, I should come with my husband.

Well, I couldn’t just go home and wait.  It was going to be three weeks before the results came back.  That day I came home, got on the internet, and discovered the most horrifying thing.  I looked up SMA and the first sentence I read was “…number one killer of infants and toddlers under the age of two…”  I was shocked.  I broke down into tears and grabbed my baby girl and hugged her so tight that she started to cry.  I couldn’t believe it!  This was my Baby Girl!!!  The only person that was there for me when I needed it the most; she would listen to what I was going through without judging me.  She was the perfect example of unconditional love.

I printed out some articles and waited for my husband to come home.  All the symptoms matched… tongue fasciculations, lack of head control, no rolling, hypotonia, etc.  As soon as I told my husband about the disease, he was in denial.   I also told my sister and my best friend.  They were both very supportive.  I decided to keep it from the rest of my family until the results came back.  Those three weeks seemed to take forever.  She seemed to be doing fine.  We started physical therapy and it seemed to be helping.  Whatever she couldn’t do physically, she would make up for with her beautiful smile.  That smile was always there, regardless of what was going on around her.  

On August 19th, 2004, we had a 5 pm appointment with the neurologist to review the test results.  My husband and I didn’t talk much prior to the consultation; he was angry with me for even considering the possibility that Isabella may have the disease.  My sister came with us to the appointment to offer support.  We were all sitting in the office as the neurologist confirmed the diagnosis.  I was trying to be strong.  I didn’t want my baby to know how weak and helpless I felt at that moment.  She most likely had Type I SMA, but it would require a muscle biopsy to confirm Type I, vs. Type II or III.  I refused to put her through those additional tests.

We had to break the news to my parents and the rest of our family.  On the way back from Isabella’s appointment, we stopped at my parents’ house to pick up our older daughter.  The whole family was there and we gave them the news.  There was silence and a lot of crying.

I decided to write a letter to our family and friends explaining Isabella’s diagnosis.  It was very difficult.  I asked everyone to respect any decisions we should make regarding her care, and to be supportive in any way they felt comfortable.  I also included an article describing the disease and her prognosis.  I noticed that people started avoiding contact with us because they didn’t know what to say or do.  I couldn’t blame them.  Some just sent cards with their wishes or prayers.  Everyone was shocked.

I scheduled an appointment with a pulmonologist to address her difficulty breathing.  Her first x-ray showed a mucus plug in her right lung, but it wasn’t a concern at that point.  We arranged for a pulse-oximeter and a nebulizer to be delivered to our home.  She was started on Xopenex and Pulmicort to keep her lungs healthy and to keep her breathing easily.

Next came a visit to the gastroenterologist.  Isabella had already been treated for acid reflux with Zantac, but the doctor wanted to try a course of Prevacid before doing anything else.  Three weeks passed by without improvement.  She wasn’t eating as well as she used to and she had completely stopped eating at night.  The next step was to admit her to the hospital to run some tests.  In order to confirm that she actually had reflux, a nasogastric pH probe was placed.  This measured the pH in her esophagus over a 24 hour period.  She did, in fact, suffer from reflux.  The next day she had an upper GI barium study to rule out damage to the esophagus.  Thankfully, the results were normal.  She was discharged with a nasogastric feeding tube in place.  We were only to use it to supplement her night feedings.  A pump and formula were delivered to the house that day.  Things seemed to be fine.

The following day, Isabella developed a fever.  We saw her pediatrician immediately and he was concerned by the sound of her chest.  We were sent for x-rays which confirmed aspiration pneumonia of her right lung.  She started antibiotics and we continued the nasogastric tube feedings.  Swallowing became progressively more difficult for her and she eventually stopped taking anything by mouth.  Her difficulty swallowing made it necessary for us to suction her saliva, so she wouldn’t choke.  We carried a bulb syringe with us everywhere we went.  Within a few days, the pneumonia and fever began to resolve. 

During this time, however, she began vomiting more frequently.  Initially, it was only once a day, but soon she began vomiting after every feeding, especially at night.  We went back to the gastroenterologist and he referred us to a surgeon for placement of a gastric feeding tube and a fundoplication (NISSEN procedure), which would limit further reflux and vomiting, hopefully preventing additional aspiration pneumonia.

Isabella suffered her first real respiratory crisis one morning, shortly before her surgery was scheduled to take place.  Her mouth filled with saliva; her face turned very pale and her lips and tongue were blue.  Her oxygen saturation levels dropped into the 70’s.  I suctioned as fast as I could and tried to talk to her as calmly as possible.  It seemed like it lasted forever, but she soon recovered.  We rushed to the pulmonologist and follow-up x-rays showed worsening of her pneumonia; half of her right lung field was infected.  Her antibiotics continued and we arranged to have an oxygen tank and concentrator delivered to our home.    There were no additional crises prior to her surgery date and we felt that she was actually improving.

The NISSEN procedure and placement of the g-tube was scheduled for October 29th, 2004 at 9 am.  Isabella was examined by the anesthesiologist upon admission and there were concerns about her lingering pneumonia.  The surgeon and the anesthesiologist agreed that the procedure should be postponed and that Isabella should be admitted to the hospital for treatment.  After an hour of waiting, we were finally moved to a room in the pediatric ward.  Isabella’s condition seemed to be deteriorating by the minute.  Her oxygen saturation dropped into the low 70’s and she was put on supplemental oxygen.  Hours went by and we still had not seen a doctor.  Isabella had not eaten anything since the night before, she was dehydrated and hungry.  I thought she wasn’t getting enough attention and I was starting to get angry.  After chasing down the nurses, an IV was finally established, but without doctor’s orders, fluids couldn’t be administered.  All the while, Isabella became weaker and more exhausted.  Apparently, she was too sick for surgery, but not sick enough to receive attention once admitted to the hospital.  I couldn’t sit by and watch this any longer.  An emotional break-down on my part finally prompted some overdue attention.  Nurses and doctors swarmed in and initiated IV fluids and antibiotics.  X-rays showed her pneumonia had worsened; it was a good thing the surgery had been postponed.  Later that afternoon, we began feeding her (partial parenteral nutrition, PPN) through her IV.  The pulmonology team was consulted and she was started back on her nebulizer medications and chest physical therapy.  Isabella finally began to settle down and seemed comfortable for the first time that day, but I still hadn’t seen a smile since we left the house.  I just hoped that the night would go smoothly and that she would be happier tomorrow.

That night was awful.  I have never in the past 10 months seen her so miserable.  Since having the nasogastric tube removed that day, she wasn’t taking anything orally.  She was receiving PPN through her IV line, but it didn’t seem to be satiating her hunger or thirst.  Isabella didn’t sleep more than 30 minutes the entire night.  She desperately wanted to drink, but would start choking and coughing if given more than a couple of drops of water at a time.  We spent the entire night rocking her, giving her water from a syringe… drop by drop.  She constantly needed oral suctioning because of her difficulty swallowing.  Her fever persisted despite regular doses of Tylenol and Motrin.  She was exhausted, but wasn’t able to sleep for more than a couple of minutes at a time, before waking up and crying.

We spent the next three days in the pediatric ward, with what I thought was too little attention and not enough aggressive care.  Multiple IV catheters were placed, and ultimately failed, before a central line was established.  Thankfully, this was accomplished under mild sedation and a local anesthetic.  Isabella slept through the entire procedure.  The central line allowed us to upgrade her PPN to TPN (total parenteral nutrition), optimizing her nutritionally.  Later that day, her heart rate began to elevate (210-220 BPM) and her respiratory rate increased to 55-60 breaths per minute.  Her oxygen saturation fell into the high 60’s and she was transferred immediately to the pediatric ICU (PICU), where the attention to her care dramatically increased.

I was impressed with the PICU team and very relieved that she would be cared for and observed more closely in this environment.  She saw more doctors and nurses in her first 10 minutes in PICU than she did throughout her first three days in the hospital.  I finally felt that she was getting the attention she deserved.  Initial x-rays in PICU showed a worsening of her pneumonia and a new area of collapse in her right lung.  Her antibiotics were changed and she was placed on positive pressure ventilation.  After just a few hours, Isabella seemed to be improving dramatically.

After over two weeks in the hospital with agonizingly slow improvement on her x-rays, occasional oxygen desaturation into the low 80’s, and lots of deep suctioning, I was about to loose my mind.  However, I knew I needed to stay strong and not show Isabella any signs of sadness or anger.  Still no surgery date scheduled and lots of confusion.  I began to have mixed feelings about all of this.  Most of the days she would smile and make noises; she seemed to be really happy and comfortable, although, during her occasional times of crisis, she seemed absolutely miserable.  The overwhelming feeling was one of a loss of control.  All of the specialists were looking out for their own best interests, often conflicting with each other.  The surgery team wouldn’t operate until her lungs were healed enough to optimize her recovery, but the longer she went without surgery, the more likely she was to relapse, further postponing any surgery date.  It seemed like a vicious cycle, and we were stuck in the middle.  The doctors’ time-frame seemed to be measured in weeks to months, while mine was measured in days.  We just wanted to get her home and start the healing.   I can’t even describe the frustration we felt.  

On Sunday, November 14th, I decided to take a break from the hospital and spend some time back at the house while my sister stayed with Isabella.  She was fine all morning; smiling and happy as can be.  I received a phone call from the nurse only a few hours after leaving the hospital.  Isabella’s blood oxygen was desaturating and she needed to be deep suctioned numerous times.  Thirty minutes later the attending doctor called to tell me she had failed to improve.  She was still having trouble breathing and was failing to maintain her saturation.  He suggested intubation would be the best way to stabilize her.  I tried to stay calm and gave them permission to do anything necessary to help her.  However, I hoped they would be able to wait the hour it would take me to get back to the hospital.  I just wanted to see her one more time before she was sedated and intubated.  Luckily, things seemed to have calmed down quite a bit by the time I arrived back at the PICU.  Isabella had recovered and the intubation was averted.

After much debate between ourselves, the respiratory team, and the surgeons, Isabella’s surgery was finally scheduled for November 17th.  Her lungs had healed as much as they were going to, and we all feared another set back might take place if we continued to wait.  We made the difficult decision to perform a permanent tracheostomy at the same time as her gastric surgery.  Considering the progression of her respiratory compromise since entering the hospital, we knew it was only a matter of time until the tracheostomy would become necessary.  We also knew that because of her pneumonia, they might have trouble extubating her after surgery, making a tracheostomy necessary regardless.  Everyone agreed that accomplishing both procedures under a single anesthetic event would be in her best interest, so the decision was made. 

The day before surgery, we experienced one of our most frustrating confrontations with the nursing staff.  Isabella had been receiving Tylenol and Benadryl on a nightly basis in order to help her sleep.  For some reason, the night before surgery, her nurse decided Isabella had been on these medications for too long.  It seemed that the “as needed” note failed to make it to that day’s Doctor’s Orders.  The battle to keep her comfortable had begun.  The next morning during rounds, I had to fight to continue her Tylenol.  Isabella had a difficult time with her morning chest PT and seemed uncomfortable.  Her heart rate and respiratory rate became elevated and she couldn’t fall asleep.  She would close her eyes for only a moment before waking up crying and moaning.  She was finally dosed with the Tylenol after three hours of my pleading with the staff.  I was very angry and frustrated.  Because of miscommunication between the doctors and nurses, Isabella had to suffer.  I just wanted her to be comfortable and I wanted to see that beautiful smile one more time before she was taken into surgery.

Her surgery was scheduled for 1:30 pm, but she wasn’t transferred to the OR until 2:30.  It was very hard to see her go.  I gave her a big hug, a kiss, and told her I loved her.  Now all I could do was wait.  The surgeon came out to update us as soon the NISSEN procedure was completed and the gastric tube was placed.  Isabella did incredibly well under anesthesia and her surgeries were uncomplicated.  We had to wait a short time for the EENT surgeon to perform the tracheostomy, but within an hour, Isabella was in recovery and doing well.  I was so glad it was over.  By the time we made it back up to our PICU room, Isabella had already arrived.  This was the first time in two weeks that I could see and touch her beautiful face, free of all the feeding and respiratory tubes.  Isabella had begun to open her eyes and look around, but she was still very disoriented.  She had a wonderful night postoperatively.  There were no episodes of desaturation and her pain was well controlled.  She was still quite sedated and slept well.

The next week in PICU passed quickly.  48 hours postoperatively we began feedings through her gastric tube, initially Pedialyte followed by a true enteral formula.  She tolerated the feedings well and her stomach was emptying normally.  We began to see the first signs of her regaining some of the weight she had lost.  Her first trach tube change occurred 5 days after surgery and her ventilator status was downgraded from BiPAP to CPAP and her oxygen supplementation was reduced to that of room air.  At this point, Isabella was transferred from ICU to the respiratory ward, which we viewed as a huge step in the battle to be discharged.  Unfortunately, we soon learned the frustrations were only beginning.

Isabella spent over two weeks in the respiratory ward while we tried to convince her doctors we were capable of taking care of her at home.  Her condition remained stable and unchanged throughout the rest of her stay in the hospital, but they wouldn’t discharge her until we fulfilled an exhaustive check-list of tasks.  Before this experience, I naively thought decisions about her care would be made by me, with the guidance of her doctors.  I soon realized that once admitting her to the hospital, all control was forfeited to the doctors and nurses.  I thought I could politely decline the doctors’ suggestions that we obtain in-home nursing care.  I thought I could politely decline their recommendations that she spend an additional month in ICU while I was “trained” to use the medical equipment I had already been using for months.  I was surprised to learn I had no legal rights to simply “sign her out against doctor’s orders.”    We were prisoners in the hospital until they saw fit to release us. 

We were told we could not be released until we secured nursing care at home, whether I wanted it or not.  Obviously, I was unable to judge my own ability to care for my daughter.  Additionally, it wasn’t good enough that I had mastered the tasks involved in her daily care (ventilator maintenance, trach changes, suctioning, etc.), I needed to have three other “potential caregivers” pass all the tests, just to be safe.

Initially upon transfer to the respiratory ward, I was told to expect a two month learning period before Isabella could be discharged.  We fought exhaustively to have her sent home after two weeks.  By then, I think they were all happy to see us go.  Thankfully, Isabella remained happy and stable throughout the process.  I don’t know what to expect with our transition back home, or what the future will hold, but I do know we are ready for the challenge.  Isabella continues to smile and play, which encourages us all to cherish each day as we forge on ahead.

…….. If you have a child, please give them a kiss and let them know that you love them. 

A year has gone by since writing those words.  There have been good days and bad days, but throughout it all, Isabella has remained happy and stable.  Our frustrations have shifted focus from the hospitals and doctors, to the insurance companies and medical supply providers.  It seems there will always be a battle to fight.  Despite this, the past year has taught me a lot about life, about love and happiness, and about myself.

Initially, it was a bit scary to go back home after being in the hospital for so long.  I took an additional two weeks off from work to stay home with Isabella while we adjusted to the new routine.  We were all very happy to have her home for Christmas and her first birthday.  Both occasions were spent with family and friends.  Everyone was surprised and happy to see how well she was doing.

We quickly became comfortable with her daily care at home, including use of the feeding pump and nebulizer, frequent deep suctioning and weekly trach changes.  Initially, the most difficult transition was actually to relinquish some of her care to the in-home nursing staff.  I had become so comfortable caring for Isabella that I was reluctant to leave her in the hands of anyone else, even a nurse.  I wished I could stay home with her every day.  I started working again, three days per week.  The only nursing care we require are those three, eight hour shifts during the days while I am at work, a far cry from the “around-the-clock” nursing care the hospital was insisting we needed.  After some initial separation/stranger anxiety, Isabella quickly bonded with her nurses and continues to enjoy her days with them.

During our first month home, Isabella developed persistent fevers.  At first I tried to blame it on teething, but the fevers were just too high.  She also began having trouble falling asleep and would wake up crying and uncomfortable.  Many doctors’ appointments resulted in few answers.  X-rays, blood and urine cultures were all negative.  The source of the fever was never identified, but upon our request, Isabella was prescribed Tylenol with codeine for the nights.  She immediately began sleeping more comfortably and would awaken happy and well rested… without a fever.

I decided it would be worthwhile to add a second health insurance for Isabella through my employer.  I hoped this would add to our total benefits and cut down on our co-pays.  Initially, this caused more problems than it solved.  The two insurance companies fought over which one was responsible for paying the bills.  Shortly after adding the second insurance, we were denied coverage of Isabella’s formula and all enteral supplies.  I even had to return her feeding pump.  We were also told we would have to find a new nursing company because our current one was no longer in-network.  Eventually, the insurance companies negotiated prices for the formula and nursing care which meant we wouldn’t have to starve our baby or find new nurses.  Even with two insurance companies, our benefits were soon running low.  The cost of renting the suction machines, nebulizers, pulse-oximeters and ventilators was an incredible drain on our benefits.  To cut costs, we decided to return all of our rented equipment (except for the ventilators) and bought our own on e-Bay.  We were also able to replace our confiscated feeding pump, stock up on suction catheters and formula, and find a wonderful handicapped stroller called a Kid-Cart.  The stroller has become invaluable when it comes to trips out of the house.  Isabella loves it, which makes our time outside so much more enjoyable for all of us.   She especially likes strolls through the park and trips to the playground and children’s museum with her big sister. 

The outpouring of support from the community has been a pleasant surprise.  Upon our release from the hospital, our family’s church generated a sizeable collection to help cover our medical expenses.  A local physicians group donated a new hospital bed for our home and is currently trying to secure a ventilator for Isabella.  The Families of SMA organization donated some trachs and suction catheters and loaned us a percussor for Isabella’s chest PT.  We truly appreciate everything that everyone has done to help us.  I would especially like to thank my best friend, Harlan, and my sister, Anna, for their continuous generosity, support and love.  I wouldn’t be where I am today without you.

Medically, Isabella continues to do well and remains stable.  Since leaving the hospital a year ago, there have been no episodes of pneumonia and no need for hospitalization.  We regularly visit the pulmonologist and gastroenterologist for rechecks.  She receives weekly visits from the physical therapist and will soon be starting speech therapy.  Her current medications include Xoponex, Atrovent, Pulmicort and Tylenol with codeine.   For the last six months we have also been giving Isabella pulse therapy of nebulized antibiotics to combat bacterial colonization of her upper airway.  We recently added Robinul to her daily medications to reduce her oronasal secretions which had become quite profuse.  The medication has decreased the need for suctioning and will reduce the risk of future aspiration pneumonia.  Lastly, through the winter months, Isabella also receives the RSV vaccine from her pulmonologist.  This fall, Isabella underwent an overnight sleep study at the hospital to evaluate her ventilator support relative to her respiratory effort.  It was determined that she would benefit from a change from CPAP to BiPAP.  Since the adjustment, Isabella seems to be having an easier time breathing and less episodes of distress.  We are happy to say that her current regimen of medications and ventilator support has been successful in helping to keep her happy, healthy, and comfortable.

Isabella has done so well since leaving the hospital, in fact, that her case study is being used to implement changes in the hospital’s ICU and respiratory wards.  We were very happy and proud to learn that she is being used as an example to prove not all cases should be treated alike.  We broke the mold when we pushed to have her transferred from ICU to the respiratory ward, and ultimately released early.  It is nice to know that our efforts may now help some other family, in the future, to return home quickly and begin living their life again.

In many ways, Isabella is like any other two year old.  She has her own distinct personality.  She loves to watch cartoons, especially Mickey Mouse and Pooh, listen to music, and draw with markers.  She seems to be at her happiest when she is doing anything with her big sister.  She is still able to move her head from side to side, move her arms and hands, and has a full range of facial expressions.  Most of the time she smiles, laughs, and is happy, but occasionally she still shows some of her two year old cranky attitude… just to let us know who is in charge.  She has a small vocabulary of words, noises and gestures that we have grown to understand.  Hopefully her speech therapy will improve our communication, but even if it doesn’t, she is getting the job done.

There is no way I can say this past year has been easy.  It has been a transition and a learning process for all of us.  As we prepare to celebrate her second birthday, I look back on all we have endured and all we have accomplished, and I look at Isabella’s smiling face and I have no regrets.  She is still my baby girl and always will be. 

…….. If you have a child, please give them a kiss and let them know that you love them.