This is Gabe

8 year old takes out his own staples after liver transplant

Chapter One (Aug 2008):  What is Kawasaki’s?

​Gabriel was admitted to a children’s hospital at 4 years of age due to a high fever that was not resolving with conventional remedies and two separate visits to his Primary Care Pediatrician.  He was diagnosed with Kawasaki’s Disease, kicking off his introduction into the world of the medical dictionary abyss.  The diagnosis was made by the Hospital Medicine “Hospitalist” team, Gabe’s first ‘specialist’ who would care for him.

Gabe was administered an intravenous medication because his fever still would not break, and he was hospitalized for 4+ days, each day being seen by a different physician from the Hospital Medicine team.  The Infectious Disease team was also consulted.

Overall, his care was excellent.  However, the answers we were able to obtain strongly depended upon which expert physician was on duty.  Communication between practice partners from the same team seemed to be hit or miss.   We felt as though we were starting from the beginning every time a provider entered Gabe’s room.   Each time we repeated Gabe’s history, the surprise expressed by each clinician confirmed that they had not reviewed Gabe’s case prior to engaging us.   As we count the various appointments across various ‘pods’ within the hospital, you will easily pick up on this recurrent trend.

Because of known cardiac complications that often occur subsequent to the Kawasaki’s diagnosis, he was put through a series of cardiology tests by the Cardiology Service.  These were ‘known’ by them, not by us, so this of course took us all by surprise as well.

Fortunately, the initial echocardiogram and ECG were negative, and Gabe was slated for further testing over time to make sure no structural changes to his heart occurred.

Diagnosis: Kawasaki’s Disease due to a suspected virus complicated by unexplained pancytopenia

Chapter Two (Apr 2009):  ITP… What Next!

Via bloodwork during his time in the hospital, it was discovered that he had abnormal laboratory blood counts, called pancytopenia, meaning that his major blood cell (RBC), white cell (WBC) and platelet (PLT) numbers... were all below normal.

Gabe’s RBC and WBC counts returned to within the normal range, but his platelet count continued to decrease.  Hematology, which is part of the Oncology group, was called in.  If we were not frightened earlier, we sure were now.

They called his condition Ideopathic Thrombocytopenia Purpura or ITP.  Besides being a mouthful of a seemingly foreign language, it meant that his platelet count was below normal and that he would be visiting a hematologist for regular visits to monitor his blood counts.

Here is where the first ball was dropped.  Neither ITP or pancytopenia is associated with Kawasaki’s disease, so what is the cause? Would the doctors investigate a reason for these findings?

Diagnosis: Ideopathic Thrombocytopenia Purpura of unknown etiology

Chapter Three (Mar 2010): Status Quo – So we thought!

Gabe continued to be followed monthly by hematology for the next 12 months.  His platelet count continued to decrease, but it kept just above the number to start considering extreme therapeutic options.

The hematologist in charge of Gabe’s case time after time referred to his past medical history of Kawasaki’s disease erroneously as the Coxsackie virus.  This oversight was innocent enough, and confirmed that there was no link between ITP and Kawasaki’s.  However, it pointed to two realities:

1.    They still had no clue why his platelets were low or why they continued to drop.

2.    More so, that they had no clue of what tests to perform to try to figure it out

We were frozen, frightened of what questions to ask or not to ask.  If we challenged them, would they order additional tests that would be painful or uncomfortable to Gabe and add to his financial obligation?  And we did not want to put Gabe through any more, especially through orders based on guesses.

Therefore, the monthly visits, complete with finger sticks and blood draws continued.

Chapter Four (Jun 2010): Sleep Study is a Wake-up call?

Gabriel’s sleep pattern was becoming increasingly erratic.  He started to wake up in the middle of the night gasping for air. He is now 6 years old.  His Pediatrician, who has been with Gabe since birth, suggested a visit to ear, nose and throat, or Otolaryngology, due to a suspected obstruction in his sinuses.

The Otolaryngology Specialist carefully examined Gabe, and ordered a head CT to evaluate any possible structural issues.  The CT showed a perfuse obstruction, and he informed us that his adenoids would have to be removed.  A polysomnography, or sleep study, was also suggested.  More new words.  More confusion.

The sleep study resulted in two entirely unexpected findings.  Gabriel had hypoxia, or low oxygen levels in his circulating blood, which dropped significantly during his sleep.  Also documented were several occurrences of single and multiple runs of premature ventricular contractions, or PVCs, in his heart tracings, meaning he was experiencing some sort of arrhythmia.

Chapter Five (Jul 2010): Things are getting dicey and worrisome, but still no answers!

A Pulmonary (lung specialty) consult was ordered because of the hypoxia, as well as a return visit to cardiology, this time to evaluate and document the arrhythmia further.  The first cardiology consult was focused on a specific task to rule out structural damage due to his bout with Kawasaki’s disease, but a complete cardiology workup was not performed, therefore the arrhythmia was not detected.

Pulmonary medicine subjected Gabe to a number of tests including  another CT scan, Chest x-rays, pulmonary function tests and treadmill exercise tests.  They identified what they termed upper airway resistance w/probable sleep apnea and probable mild asthma. Gabe was prescribed  Flovent and Atrovent inhalers for asthma.

At the same time, Cardiology performed yet another echocardiogram, as well as ECG, and had Gabe wear a round-the-clock monitoring device to assess the frequency and burden of his arrhythmia.

Hematology continued to follow Gabe, and had the courtesy to extend his visits to every other month even though his platelet count continued to drop.

Gabe’s medical scorecard at this time, almost two full years later:

No definitive explanation was shared to explain his low blood oxygen readings, so Gabe was labeled with a diagnosis of Asthma. This is significant because this was never confirmed.

(Despite undergoing an orthotopic liver transplantation two years later, which we will discuss, and almost five years after the transplant, his primary diagnosis code remains listed as asthma)

The holter monitor ordered by cardiology detected an abnormal rhythm which was present 18% of time, and later deteriorated to a 24% burden, but was labeled as non-life-threatening.  They advised us to watch Gabe for symptoms and that they would follow-up in a year otherwise.

Hematology noted that Gabe’s platelets continued  to trend downward, but that his spleen was not enlarged.  They would only become concerned with his count dropped to below 20.  The normal range is 150-400, and Gabe was now in the 60s.  When he started being followed by hematology, it was in the mid 90s.

I could easily stop here and make a strong case for having a personal advocate present to assist Gabriel, but it only gets better. Needless to say, we were spinning in circles, afraid for our little boy, and had no idea where to turn.

Chapter Six (Aug 2010): ‘Simple’ surgical procedure

Surgery to remove his adenoids was scheduled, but not without significant preparation and discussion.  This was the first time we decided we had to speak up for Gabe in a more assertive manner.

He was going for surgery.  Many questions and explanations were exchanged from and to every person involved with his surgery, including the surgeon, the anesthesiologist, residents, the fellow and his recovery nurses.

His platelets were at a critical point.  Should he be given a transfusion before the surgery, or have platelets on standby during the surgery just in case?  If so, should we postpone the procedure until platelets can be harvested?
What about the hypoxia? How would this play into possible complications?  Will he require supplemental oxygen?
Side note: The surgeon blamed the hypoxia on the anesthesia.  The issue was that he had not received any yet!  Guessing will not be tolerated when it comes to our son

Gabe did very well.  That fact that he never cried, never whined, never complained made us see Gabriel’s courage as a dominant character trait which will serve him very well later as you will soon see.

Chapter Seven (Oct 2010): You are testing for WHAT?

Gabe’s adenoids were removed and the obstruction relieved, but his blood oxygen saturation was not showing any signs of recovery.  In fact, they continued to decrease.  Gabe’s fingers were clubbing and his lips were turning blue.  The Pulmonologists remained puzzled.

To rule-out or confirm several possible scenarios, Pulmonary Medicine ordered a Sweat Test.  This is done to screen for cystic fibrosis. Other hypotheses posed included a V/Q mismatch, whatever that is, Gaucher’s disease, another unknown condition, a hemoglobin abnormality with a referral back to Hematology.

Yet another CT scan, Gabe’s 3rd, was performed, where this time a dilated IVC (inferior vena cava) was noted.  I guess when you are looking for something, you will find it.  Apologies for the sarcasm, but our confidence, and knowing what to ask, how to pose direct questions appropriately, was waning.

All of these brought about multiple frightening scenarios, new foreign medical terms, tests that were not explained well, and great discomfort to a 6-yr old little boy who had already spent two years being poked, prodded and pricked.

Forgot to mention.  A second polysomnography (sleep study) was ordered and performed.  Hypoxia has worsened.  Arrhythmias are still present

Chapter 8 (Apr 2011):  Still no Answer until an Angel Appeared

Frustrated, we sought outside consultation.  We were fortunate to have a decent network of adult caregivers and experts who at the very least, would listen.  Several were eager to help, sensing our angst.  They reviewed Gabe’s scans, lab report, test results and truly took a personal interest as if Gabe was of their very own family.

Then we were presented with another avenue look in a totally unexpected manner. While speaking to a leading physician during breakfast at a conference in another city 1200 miles away, and once again explaining Gabe’s case to anyone who would listen, this physician suggested two simple tests that may help us shed light on what was going on.

ne such test was another echocardiography, but this time with agitated saline bubbles to trace the path of Gabe’s circulating blood.  She explained that this may show that a ‘shunt’ or that a redirection of his normal blood flow may exist, and that this could explain the hypoxia portion of his condition.  It sure was not asthma.

When we took this insight back to cardiology, the staff cardiologist who was first presented with the idea dismissed it, stating “It will not show anything’

We were getting pretty good at questioning decisions by this time, so we asked the staff cardiologist to explain why she felt the test would be a waste of time.  Since she could not provide an answer, we took the insight to the chief of cardiology this time.  He felt it was a reasonable test to perform, and even asked Gabe if he were up to it.  Gabe was experienced to such an extent that he knew what was involved with most tests that were ordered.  Gabe agreed.

The echocardiogram with bubbles did show something.  A shunt of some sort was identified.  Next up was a cardiac catheterization to find just where the shunt resided.

Chapter Nine (May 2011): Let’s try this again

The Chief of Cardiology took Gabe’s case from here.  A complete cardiac evaluation was repeated.  Gabe was asked to run to the nursing station and back, testing his pulse oximetry, used to measure oxygen saturation and assess his degree of hypoxia.  This was the first time we documented a significant drop in his oxygen levels during activity.  We also realized why his seemingly distracted state on the soccer field had a documented explanation.  This was sobering to us.

Two Chest X-Rays and CT # 4 was performed, this time to his abdomen and pelvis.  This CT identified the shunt, which was now termed a portosystemic shunt, an enlarged spleen, fluid buildup in his abdominal cavity, and the draining point of the shunt as being way down in his left leg.

Gabe’s condition could not be confirmed as being cardiac in nature, albeit he did still have a significant arrhythmia burden via his 3rd Holter evaluation.  Therefore, cardiology suggested that we consult the Gastroenterology and Hepatology group.

By the way, his teachers, who are excellent educators, did not fully understand the scope of Gabe’s condition, nor how his diagnosis could account for Gabe’s short attention span and lack of concentration.  Gabe was hence labeled repeatedly as having an attentive deficit disorder in its classic sense. It was even suggested to us by his teacher to seek medication for him.  .

Chapter 10 (May 2011): Evaluation for ??? 

​Gabe was seen by the GI/Hepatology service.  We were soon joined by the Chief of Liver and Abdominal Transplant surgery during the evaluation.  Who? Why?  The Hepatology expert was referring to Gabe’s condition as possibly hepatopulmonary syndrome, HPS, a rare condition in pediatric patients, so rare that this possibility had not been considered until now.

Why the Transplant surgeon?  It turns out that the only known treatment for HPS is a total liver transplant.  He was here to explain our options should this become a reality.

Gabe was ordered a nuclear scan to measure the perfusion from his to each of his vital organs including his brain, and multiple ultrasound evaluations including several of his abdomen.

Despite Hematology repeatedly stating that his spleen was only slightly enlarged, the ultrasound showed it to be 3 times normal.

Because of the stress and uncertainty Gabe has experienced for now almost 3 full years, the GI/Hepatology folks brought in behavioral and coping experts to help Gabe and assess where he was mentally and emotionally

Chapter 11 (Jun 2011): Cardiac Cath, Hot-Potato 

We were so happy that we actually had a direction to follow to figure out what was wrong with our little boy that we almost forgot that he was about to undergo a significant cardiovascular procedure, and that he had a vascular shunt in his little body that might be in his heart, or will likely lead to yet another procedure, regardless of where it was.

A massive tortuous shunt lit up the monitor during the catheterization procedure, but it was not in his heart.  It was what they referred to as a portocaval shunt, which lead away from the IVC of his heart, which likely explained the dilated IVC discovered by pulmonology.  The shunt bypassed his liver.

The cardiologist also had the foresight to test Gabe’s portal pressures, because increases in these can take away some of options that may be available to him later.

A liver biopsy was also performed as well.  An evaluation by the gastroenterology/hepatology team was next.  We have lost count of the number of specialists that have seen Gabe to this point, but Gabe has been unbelievably brave, bringing us to tears for what he has already been through.

A core liver biopsy was also ordered to be performed by a lead interventional radiologist (IR).  When that day came, it is one we would like to forget but never will be able to.  First, the slated IR was not available, and the biopsy would be done by someone else.  Second, Gabe remembered everything that transpired when his adenoids were removed vividly, so vividly that he panicked when the anesthesiologist attempted to place a mask over his nose and mouth.  To this day, he still fights a mask of any kind.

The hepatologist brought us in to explain the results from Gabe’s first biopsy.  The biopsy showed normal tissue without abnormal cell growth.  His suggestion was to continue our follow-up appointments with hematology until such time that it would be time to intervene at their recommendation.

The cardiac cath confirmed the blood oxygen levels as low, tested the portal pressures which were normal, discovered that multiple AVMs (arteriovenous malformations) existed as opposed to a single large pulmonary AVM, and the liver biopsy showed normal tissue

Cardiology & Hepatology sent Gabe back to Hematology to assess for or rule out myeloproliferative disorders because they felt their organ systems were not affected.  He was ultimately further referred to the Vascular Anomalies Clinic.

Chapter 12 (Aug 2011): A meeting of the minds

A meeting of all the minds was requested by the family on Gabe’s behalf.  So many handoffs back, forth and between specialists had us reeling, and we did not know how to interpret everything together.  A Hospitalist delegate was assigned to arrange the meeting which included a representative from each specialty involved to this point.

Arranging this was arduous but ultimately took place, and a plan was agreed to moving forward

Chapter 13 (Oct 2011):  Back to Hepatology…for good

By this time, Hematology referred Gabe’s case back to GI/Hepatology due to splenic enlargement, but agreed that further procedures would still keep in mind a potential link myeloproliferative disorder.  This was agreed to at the Aug meeting involving all specialties.

A plan was put into place to act decisively.  Coils were to be placed in Gabe’s shunt to embolize the blood flow and hopefully redirect blood through the portal circulation.  Due to the risk of trading one problem for another causing the formation of life-threatening varices, several tests on portal pressures were to be performed before the coils were actually placed.

To cover all possible bases, a second & third liver tissue biopsy and a bone marrow biopsy were performed during the embolization procedure.

Gabe’s post- shunt embolization recovery did not go well.  It was decided to admit him to a room for observation.  Because of his care by hematology, Gabe was admitted to the oncology floor, which by virtue of the children being cared for on that floor, and the question still unanswered about Gabe’s true diagnosis, was a difficult transition.

Chapter 14 (Jan 2012): A Gliche in Protocol

Gabe’s arrhythmia, which we all knew existed, turned an overnight, leisurely recovery into a two-week nightmare.  In the middle of the night, when late rounds were conducted and the runs of PVCs were noted, it was decided that Gabe be transferred to the PICU or Pediatric Intensive Care Unit because the regular floors are not equipped to handle a cardiac arrhythmia patient.

Well, this dialog is getting longer and longer, so I will cut to the chase.  The Intensivists, or ICU specialists, and the Cardiologists could not normalize Gabe’s heart rhythm despite all measures.  They still believed the rhythm disturbance was non life-threatening, but our confusion was increasing, our confidence waning and our worse fears escalating.  Gabe was doing well otherwise, arrhythmia, hypoxia and thrombocytopenia aside.

Protocol at the hospital dictates that a patient must be transferred to a step-down unit before he or she can be considered for discharge.  However, protocol also dictates that a patient with an active arrhythmia cannot be transferred from the PICU to the step-down unit.  Therefore, Gabe was in PICU limbo.

After several attempts to plead a case for Gabe and chasing down the cardiologist on call, the hospital officials agreed that this was a special case and agreed to send Gabe home directly from the PICU, 14 days later.

Chapter 15 (Feb 2012):  Bless Those Inquisitive Intensivists

While Gabe was spending his two-week vacation in the lavish accommodations of the PICU, a team of 3 intensivists, each acting separately due to their own curiosity of Gabe’s interesting case, researched potential causes for this unusual triad of findings.

Their plausible conclusions were a dictionary of medical jargon and seldom utilized terms, some being rare conditions the likes that they had never professionally experienced but may have heard of.  One of these pointed to a condition involving an abnormality of the liver, called Abernethy’s Syndrome.  It was a close second cousin to HPS, the original suspected problem

Because Gabe’s oxygen saturations continued to drop, and in a pronounced manner since the embolization, the ICU doctors ordered supplemental oxygen via nasal cannula for Gabe.  This seemed to bring some relief to him.

Pulmonology, who has been eerily silent since the asthma misdiagnosis, was brought back into the picture, but only because they were needed to order home oxygen for Gabe to continue his therapy.

Chapter 16 (Apr 2012): Liver Transplantation Evaluation Process Started

After follow-up evaluations from Hepatology, Cardiology, Pulmonology, Radiology & Transplant Surgery, Gabe was listed on UNOS for an orthotopic liver transplantation.

Chapter 17 (Oct 5, 2012):    Liver Transplantation – New Book Started

Gabe spent 28 days in the hospital after receiving his new liver from a generous, life-saving donor.  19 days of his recovery were spent in the PICU, mainly due to the rarity of treating patients with Gabe’s condition along with disagreements and inconsistencies with his treatment plan.

Advocacy Does Not End!

As opposed to going through the details of Gabe’s post-transplant recovery and management of his new lifestyle, the following highlights of the burden of his present condition will be illustrated to shed light on the continued struggles that surface once a patient is “Better”!!

  • 17 new medications with a complex regimen of administration
  • Extreme antimicrobial precautions (COVID-19 precautions are not new to Gabe!)
  • Complications leading to additional hospitalizations and ER visits
  • Major surgery re-opening his freshly healed transplant wound, and starting the recovery process again
  • Organ rejection episode requiring even more meds
  • Dietary issues and an intestinal obstruction​
  • Electrolyte abnormalities requiring multiple IV infusions
  • Physical Therapy & Occupational Therapy 1-2 times per week due to hypoxia and unknown duration of hypoxia
  • Post traumatic stress like syndrome requiring bi-weekly consultations with psychology
  • Migraine headaches due to fluctuating blood levels of some medications
  • Kidney issues precipitated by some medications
  • Monthly blood draws (at least monthly, but initially weekly) to assess organ function, drug levels and other metabolic parameters
  • Placement in traditional IEP classrooms because Medical IEP students have no where else to go.
  • Decision as such to move Gabe to a cyber-school program due to high number of days missed for doctor appointments.​

More recently, Gabriel has been diagnosed with Dyskeratosis Congenita. This is a rare, genetic form of bone marrow failure which can affect the body’s ability to produce red blood cells, among being at high risk for other downstream conditions.   Liver disease is one feature of the condition.  Finally, 10 years after his journey began, we were presented with a reason for the rare cause and need of the liver transplant, a cause that still remains without mention on liver transplantation websites.

Due to the various body systems that can be affected with Dyskeratosis Congenita, Gabriel continues to be monitored regularly by specialists from Hepatology, Hemotology/Oncology, Pulmonology, Endocrinology, Nephrology, Genetics, and Dermatology.

Thank you for reading and for your interest!