Meet Reanna

Reanna was born on New Year's Eve 2001 in Oklahoma and everything was completely normal, at least for the first 48 hours. Upon preparing to leave the hospital to take our new daughter home, she seemed to have a low body temperature and appeared lethargic, so Mom sent her back to the nursery to be checked.  When I went to check her out to leave she was in a bassinet under a heat lamp. As I picked her up, she turned black and blue and at the very moment went into complete respiratory arrest. I was hustled out of the nursery as they rushed her back to the NICU, and thus our journey began.

 

After what seemed like an eternity, we were allowed back into the NICU to find our daughter hooked up to tubes, ventilators, IV drips, and a catheter attached through the umbilical cord.  We were told that her blood sugar level was critically low, so low that it caused hypoxia or lack of oxygen. She was revived rather quickly, but was far too soon to tell whether there was any damage by this.  The main concern at that point was the low blood sugar and a glucose drip at a very high dose was required to maintain a normal level.  We had no idea at this point what PHHI or hyperinsulinism was for that matter, and a problem that the Hospital itself was unfamiliar with as they had no idea what was causing this extremely low and unmanageable condition.  They suggested that it may be a metabolic disease and really had no idea what direction to take. 

 

It was after a week of unsuccessful treatment that we transferred her to the larger Children's Hospital of Oklahoma City.  Upon arriving, they got right to work and several tests were done including an MRI, brain scans, etc.  They found that the umbilical catheter used to administer all the glucose, drugs, antibiotics, etc, for the previous week had actually been in the wrong vein, and had caused thrombosis of the hepatic vein and liver. This exacerbated the testing done on her for nearly a month and made it much more difficult to determine what was actually the problem.  They also found via the brain scans, that there was a tiny spot on the back of the brain, but were unsure what it was at the time. They were able to maintain her blood sugar levels much more efficiently and began using glucagon as a drug for boosting her blood sugar levels. During this 6 week stay, several different drugs were tried at an attempt to stabilize her including octreotide, diazoxide, glucagon, and several others. Eventually, it was determined that Reanna had PHHI, or Persistent Hyperinsulinemic Hypoglycemia of Infancy.

 

During this 6 week stay at this hospital, we began researching PHHI and stumbled across a website group that was a support hub for parents with children of this rare disease. The more I learned about hyperinsulinism and PHHI, the more I realized that there were really only 3 places in the world that were highly experienced in dealing with this disease in such small children. There was a hospital in Dubai, AE, another in the UK, and then there was CHOP (or Children's Hospital of Philadelphia).  Even though the Endocrinology team and NICU facility and staff at Children's of Oklahoma were wonderful and very good and were in the preparation stage of performing surgery on Reanna, we at the last minute decided to have her transferred across the country to Philly and fortunately were able to barely do just that.

 

So my wife and Reanna made the trip on a mediflight plane to CHOP while I stayed behind to take care of our other 2 children.  Immediately on arriving at CHOP, the staff there got to work with testing of all sorts, and had a plan within hours.  There are several tests that are associated with diagnosing PHHI and what course of action to take. One of these tests is an intravenous test done with a catheter in hopes of determining whether the pancreas had a focal, or single, lesion causing the hyper secretion of insulin or if it was diffuse and covering the entire organ. Unfortunately, the intravenous test didn't work for Reanna as she was quite small at that time and actually caused a blood clot, which delayed the surgery date by a week. They were nearly convinced though that she had a focal lesion, just not sure where it was in the pancreas, so her surgery was of an exploratory nature. The surgeon was so experienced that he was able to find the lesion even though it was hidden under the bile duct, and in the end 90% of the pancreas was removed and they called it a huge success and that she was cured.  We were skeptical that 10% of the pancreas could do the same job that a full healthy one could, and figured time would tell.  After the recuperation period, Mom and daughter finally returned home.  Miraculously, Reanna's blood sugar levels stayed in a relatively normal range post-op... generally between 90 & 130. She had occasional highs upward of 160-170 but would always return back down to normal quickly.  To this day, she's now 8, she stays around 125 or so.

 

We thought we were completely past all the issues of PHHI, at least until one Sunday morning in 2005, when we found her upon waking up, on the bathroom floor having a grand mal seizure and convulsions and barely breathing.  We rushed to the hospital and began a week of testing to find out what was going on. All the testing came back negative and could find nothing abnormal.  There was an MRI done and it was noted that there was a tiny spot still present on the back of the brain, the same spot that was noticed after the MRI was done when she was a week old. It had not moved nor changed in size or appearance. They didn't seem concerned with this and decided that the seizure was a febrile seizure brought on by spike in fever and infection which she did have. 

 

About 6 months later, it happened again. Another seizure, except this time it wasn't as bad and didn't last as long. We still went to the ER and by the time we were there she was coming around and appeared back to normal. They said that since there had been 2 seizures they wanted to start anticonvulsant medicines on her, which I had already studied and could see subjecting her to the possible side effects those drugs carry. Our pediatrician agreed and we carried on without meds.  Time went on and she went longer before the next
seizure, about 9 months, and it was even less intense, so febrile seizures were becoming more of a feasible explanation.  Then she went 14 months and we all but thought they were over, then she had a particularly bad one and back we went, then another a month later, then another, we starting seeing a pedo-neurologist and agreed to start a drug called trileptal as we needed to go ahead and stop these as the frequency had increased.

 

So as of December of 2009, she is maintaining on 2.5 ml of Trileptal twice a day, with no side effects to speak of.  One of the more common side effects of Trileptal is weight gain, which is NOT what a child with 10% pancreas really needs, as that would disrupt her insulin levels. So far, it is working and she is seizure free for almost 5 months now. The hope is to stay seizure free for 2 years and wean off the drug and see what happens, and hopefully the brain will have re-routed around the affected area.

 

At the beginning of this story I mentioned that at 48 hours, Reanna was returned to the hospital nursery with low body temperature and a cold clammy lethargic appearance.   There was NO BLOOD SUGAR TEST DONE at that time. If there had, it would have been clear and obvious what the problem was and she would have never gone into respiratory arrest, causing the spot on the brain.  The spot is on the occipital lobe of the brain and explains why she sees an "aura" before a seizure event. The lack of oxygen is what causes that spot on the brain. EKG testing confirms that the electrical activity during seizure comes directly from that area in the occipital lobe.

 

Basically, if the hospital had done testing as an infant, and at the very least, had tested her blood sugar level when she was returned with low temp, she would not have had the initial hypoxia and resulting slight brain damage. The testing would not have cured PHHI but would have confirmed there was a problem and cut the time in prognosis by leaps and bounds, but would most assuredly have prevented the seizure condition she deals with today.

 

On a side note, Reanna takes all this in stride and leads a normal healthy life. She miraculously avoided any debilitating brain damage and suffered no learning difficulties or motor skill problems. She actually developed quite early and walked and talked early on... We attribute that to all the stimulus from nurses 24 hours a day. Unlike a normal baby that sleeps many hours a day she was constantly poked and prodded and that may have had a hidden benefit! She does very well in school and is very creative and happy.