While on vacation in Puerto Rico Miabelle began having diarrhea. Vanessa contacted our pediatrician to ask for some advice. He suggested to monitor it closely, modify her dietary intake to just bland foods, soy formula and pedialyte, but that it probably was just a Gastro Intestinal (GI) bug that would run its course. After several days Vanessa contacted our pediatrician again to inform them that there was little change. They informed us that a GI bug could last anywhere from 7-10 days and as long as she was able to stay hydrated, without fever, and her temperment was good, not to worry.
After a week she began to show signs of discomfort (crying) and a reluctance to eat. Our pediatrician suggested that we take her to the hospital for IV fluids. She was treated and discharged overnight and the following day she began vomitting. Again we notified our pediatrician and they recommended additional modification to her dietary intake and reiterated that it was likely due to the GI bug but that as long as there was no fever, not to panic.
The following day, fever set in. She began spiking temperatures of 102+. The pediatrician began checking in with us regularly. They recommended returning to the ER, but we were reluctant as they were not very helpful during the previous visit. The pediatrician informed us to administer Tylenol as needed but that if it continued we needed to have her checked. A day passed and the fevers continued, she was vomitting and the diarrhea persisted. It became noticable that she was dehydrated. She was not producing tears when crying and her lips began to crack and chap. We returned to the ER of Hospital de la Concepcion in San German. They gave her IV fluids for dehydration and some tylenol for the fever. No further analyses was conducted and when we requested to speak to the doctor as over 8 hours had passed with no information/examination we were informed that there was no pediatrician on staff in the ER and they only contacted the hospital pediatrician in the event of an emergency. ???? This was the EMERGENCY ROOM. Shouldn't it go without saying that these were emergent cases? It was at that moment that Vanessa contacted me in NY and had me book a flight home for her and Miabelle.
Miabelle and Vanessa flew back with the first flight out of Agaudilla, PR to New York at 2am January 21st. They landed at 5.30am during a major snow storm. Upon arrival we rushed her to the Pediatric ER of Saint Barnabas Hospital in Livingston, NJ with a temperature of 104.7F (40.4C). As a precaution, I had informed Saint Barnabas Hospital that we would arrive with a very ill baby which needed immediate emergent care. They were well prepared for our arrival began administering IV fluids along with Tylenol, and submitted blood, urine and stool cultures for further testing.
She had been crying for days and nights, her pain showing on her pale face. She was inconsolable and unable to eat or drink. Later that afternoon she was admitted to the Pediatric Intensive Care Unit (PICU) for continuous monitoring. She was started on antibiotics for bacterial infections as preliminary results had already started to show signs of a Urinary Tract Infection (UTI) and Ecoli in her urine. Her pediatrician was notified and immediately came to the hospital to see her and discuss her case with the doctors on staff. She was seen by the Pediatric Attending, Residents and Interns, Gastro Intestinal and Infectious Disease specialists. Xrays and CT scans of her belly and chest revealed fluid throughought her abdominal cavity and Right lung. Around midnight the doctors came in and informed us that she had a very rare bacterial infection in her blood called Pseudomonas Bacteremia (aka the hospital bacteria). To quote the doctor: "Thank God you brought her in when you did because another 24 to 48 hours could have been tragic".
The following day she was also diagnosed with the Adeno virus in her stool. So, Ecoli in urine, Adeno in stool, and Pseudomonas in blood. Needless to say her body was in shock trying to battle all of these infections. Still today the doctors scratch their heads over how an otherwise healthy baby could have contracted so many bacterial infections, the most difficult to explain is the Pseudomonas.
She was started on a two week regimen of antibiotics. On day 3 she received a platelet transfusion, and on day 5 a Red Blood Cell (RBC) transfusion. It took nearly 7 days before we began to see any positive signs of improvement from a medical standpoint as well as her temperment. She began smiling and waving. She continued to have a distended belly and following multiple IVs, NG tubes, O2, Central line, Xrays and Ultrasounds she slowly began to improve. By the end of her second week the central line was removed and completing a 2 week antibiotic regimen, she was discharged on February 6th.
Unfortunately, within 24 hours of her discharge we rushed her back to the Pediatric ER of Saint Barnabas Hospital with a fever of 104.3F (40.17C). They immediately hooked her up to an IV and took urine, stool and blood samples for testing to see if the bacterial infections were back. Thankfully, all tests came back negative. At the recommendation of the Infectious Disease specialist, she was discharged and sent home, so as not to expose her to any further infections. We were instructed to follow up with our pediatrician the following day. The next 2 days were more of the same. On February 9th our pediatrician advised us that neither his team nor the staff at St. Barnabas were sure of what was happening. He recommended seeking a second opinion. We rushed her into NY Presbyterian Children's Hospital Emergency Room, rated in the top 5 of the country for pediatrics. By the time we arrived in the Emergency Room she was running a constant fever of above 104+F (40+C), and Tylenol was no longer working. Her vitals were weak and she was crying from pain and exhaustion. We spent the night in ER and were admitted the following morning for further testing. Luckily we had her medical records from St. Barnabas enabling the doctors to rule out certain more common infections and illnesses, and jump right into testing for more unusual illnesses like Malaria, Cholera, etc...
Over the next week Miabelle underwent more testing and examinations than most people will ever undergo in their entire lifetime. She was subjected to 5 IVs, twice daily blood draws, round the clock monitoring, multiple Xrays, Ultrasounds, CT scans, Echocardiogram, Tuberculosis and HIV tests, Epstein Barr, etc, etc. And was seen by every specialist from Pediatrics, Liver Specialists, GastroIntestinal, Infectious Disease, etc, etc. On Sunday, February 13th we were informed that everything was coming back negative for viruses and infections, and all indications were pointing to a rare disease known as HLH.
On Tuesday, February 15th everything changed. Miabelle began showing signs of Neurological complications. Her left eye was deviating and both eyes were rolling back into her head and showing signs of difficulty readjusting. She was unable to move her eyes to the left and she seemed to have no control over her hands. Increased monitoring by her team of physicians began to indicate that they were very concerned. An Opthamologist and Neurologist were contacted and immediately examined her. The following morning she was scheduled to undergo a bone marrow biopsy and have a central IV line placed. However, with the new neurological findings she was rushed off to have another CT scan Wednesday morning. In addition to having the bone marrow biopsy and central IV procedure on Wednesday afternoon, the decision was made to include a spinal tap to determine if there was any Central Nervous System (CNS) involvement.
The procedure went ahead as scheduled and the doctors were able to perform the biopsy, spinal tap and put in a PICC line in order to draw blood and administer medications. She had an Nasal Gastric (NG) tube inserted while in recovery from the general anesthesia. She was sluggish and weak and the neuro complications were becoming increasingly persistent and more noticable. She was seen by Opthamology and Neurology again following recovery and it was determined that an MRI was needed to rule out brain stem involvement and/or swelling. They scheduled her for Thursday morning to undergo another major surgical procedure requiring general anesthesia. Needless to say panic set in for all of us. How could an infant withstand back to back procedures and recover from general anesthesia when it was obvious that the anesthesia from the first surgery was still in her system? The doctors assured us that she would be well monitored, but that unfortunately, given the latest findings, it was a necessary evil.
Thursday at 12:30pm Miabelle underwent her second surgical procedure in 2 days. To make matters worse, just before leaving for surgery Miabelle's NG tube came out AND she lost her peripheral IV that they were planning to use for the contrast dye for the MRI, while in route to surgery. After consulting with the IV specialist they found that the PICC line could be used as long as the contrast dye and general anesthesia were not forced into the line at a high pressure. Adjustments were made and the surgery went ahead as scheduled.
With no definitive results back from the previous days surgical procedures, we waited with baited breath for MRI findings. Thankfully, her pediatric attending Dr. Thomas tracked down the radiology team and was able to get an immediate preliminary report. At first glance everything looked normal. But given her obvious and seemingly more prominent neurological findings, a closer assessment was necessary. In the interim, Miabelle awoke and recovered well from the second general anesthesia. She returned to her room and was regularly monitored by her team of doctors and nurses.
On Friday morning, the day before her 1st birthday, the doctors informed us that she had 7 of the 8 indicators for HLH but that given the latest neurological symptoms, they couldn't afford to delay treatment waiting for those results to come back. She began an 8 week chemotherapy treatment that night intravenously along with a protocol of steroids and immune system suppressants. Blood and marrow were sent off to Cincinnati to identify the strain of HLH as there is a genetic strain that requires treatment followed by bone marrow transplant, and there is a secondary HLH due to infection that the treatment protocol would cure. Unfortunately, the tests can take up to 2 months to come back. In the interim they submitted her blood for HLA typing to be able to identify a marrow match. While it is likely that Noelie would be the best match, she will also need to undergo genetic testing to determine if she is also a carrier of this extremely rare disease.
Further review of the MRI showed signs of slight swelling in the brain stem which would account for Miabelle's neurological presentations. However, the doctors believe that the damage is reversible and that the steroids will act as an anti-inflammatory for the stem so that we should begin to see marked improvement quickly.
On Saturday, February 19th, Miabelle and Noelie turned 1. Family and friends stopped by throughout the weekend to see how she was doing and Miabelle did well. Her blood levels began to normalize and the side effects of the chemo and steroids were minimal. Her neurological issues dramatically improved as well, and she was able to make eye contact, laughing and smiling with her visitors. She had difficulty eating and keeping food down but has made significant progress in the past 24 hours. She received a hemoglobin transfusion on Tuesday, February 22nd and is scheduled to receive her second treatment of chemotherapy later this afternoon.
Additional updates will be posted in the Daily Blogs. More to come....