I am starting this blog at what we hope is the end of a very terrifying and intense phase of our son James’ life. We have struggled to explain to friends and family what has happened over the past 6 months, since even medical professionals look baffled when they hear James’ story. But this blog is going to be tough to understand without knowing what has happened to date. So grab some wine and settle in…this is the abbreviated / just-the-facts-and-not-the-feelings version, and it is still approximately 100 pages long.
December 5, 2013: James is born via emergency C-section at 35w1d with several unexpected characteristics (the word “defect” in the context of my child makes me stabby), including a cleft palate and an imperforate anus. We are stunned, then we get on with it.
December 18, 2013: One very successful surgery and recovery under our belt, we are dedicated NICU parents and are allowed to bring our 5 lb peanut home in time for Christmas even though he’s still working on bottle feeding.
December 25, 2013: We head to ICU Dad’s parents’ house in Westchester from Brooklyn to celebrate Christmas for the day. J vomits yellow mucous and stops breathing the moment I put the first bite of Christmas dinner in my mouth. We rouse him and he seems fine, but we’re paranoid after everything over the previous 3 weeks, so call an ambulance. He is admitted to Westchester Medical Center for a “couple of days of observation” after testing positive for RSV.
December 26, 2013: J gets worse. We transfer up to Westchester Medical Center’s PICU.
December 28 – early January, 2014: J starts to seriously deteriorate. They tell us he will need to be intubated and placed on a ventilator. He develops pneumonia and ARDS. He stops responding to the ventilator, so they transfer him to an oscillator (which looks like a Soviet-era torture device, and causes your now 4.5 lb baby to vibrate from his head to his toes). He receives multiple blood transfusions. He is pumped full of ICU-standard sedatives and opiates. His blood work starts to look strange — he has the triglycerides and cholesterol of a 65 year old man who has enjoyed one too many T-bones. Except he’s a baby so that’s not normal. One ICU doctor puts all of James’ symptoms into the medical version of Google and comes back with something incredibly rare called hemophagocytic lymphohistiocytosis (HLH). The hematologists don’t think it’s the right diagnosis since J’s bloodwork is not showing most of the classic signs.
January 15, 2014: J’s lung punctures on the ventilator and he develops a tension pneumothorax. This is difficult for the ICU doctors to diagnose at the time, and he nearly dies. An ICU backup doctor saves his life by placing a tube in his chest and releasing the built up air. We will learn later that his brain was damaged due to his low blood pressure.
Moments after J is stabilized with the chest tube, a hematologist arrives in his room and proclaims that we must perform a bone marrow biopsy on “the baby”. I tell her to get the f*ck out. She tells me that based on his latest blood work she thinks J has HLH, and if she doesn’t confirm by biopsy and start treatment, he will die. We consent to the biopsy. Hours later, the HLH diagnosis is confirmed, and J starts the recommended 8 week course of chemotherapy.
Late January, 2014: J slowly improves. He comes off the oscillator and his ventilator settings are steadily decreasing. His blood work shows that the hematologist was correct – he was hours from death due to HLH on the 15th, but the chemotherapy has brought him back from the brink. His immune system is obliterated by the treatment, so everyone wears masks and gowns.
Early February, 2014: J is still on the ventilator – his lungs are better, but damaged. The hematologist informs me that she believes J’s HLH is most likely primary (i.e. genetic), and a bone marrow transplant is our only option. At this time she also informs me that J needs a lumbar puncture and MRI to determine whether the HLH has harmed his brain – we do both tests, and discover that his brain was damaged, but the source of the damage is not clear. I am unhappy with the doctor, so find and read the accepted HLH treatment protocol myself and realize that this doctor has not done some key tests that should have been done weeks ago. Much yelling later, I speak with the HLH expert at Columbia and we request a transfer.
February 7, 2014: We ambulance transfer to Columbia. They tell us there is little chance J would survive a bone marrow transplant, since he is a 2 month old that barely weighs 5 lbs. Instead, they want to continue the chemotherapy and conduct repeat brain imaging and extensive genetic testing to determine whether J’s HLH requires transplant.
February, 2014: The doctors try to take J off the ventilator twice, but neither time it sticks. A new MRI confirms the brain damage, but also confirms for our new doctor that the HLH did not cause it (and therefore is not an indicator in favor of transplant). We make some preparations for a bone marrow transplant, including having a permanent IV placed surgically in J’s chest and finding out that Max is a perfect match for James, but continue waiting for the genetic verdict. The doctors also discuss with us whether a transplant is the right choice even if it is necessary, since J is still so unlikely to survive it. I begin researching infant hospice. We have James baptized in the hospital, just in case.
March 4, 2014: Genetic results confirm all of J’s HLH-related genes are normal, so no bone marrow transplant is required. They also show that James has Kabuki Syndrome, and the doctors believe the HLH was a side effect of the Kabuki Syndrome. In other words, James will live. We are surprised and a little afraid of the diagnosis since it has pretty major implications, but overall it’s good news.
March, 2014: Despite the news, we still can’t get J off of pressure ventilation support (first CPAP, then high flow oxygen). After consultation with ENT, they determine that J has Pierre Robin Sequence, which can occur in kids with Kabuki. The sequence means his airway is smaller than normal, which he coped with fine as long as his lungs were healthy, but now that they have been so badly damaged he can’t get enough air in to keep his oxygen saturation stable. We are presented with three options: a tracheostomy, continuous CPAP for up to two years to keep his airway open, or a mandibular distraction, and after a lot of research choose the distraction. We then wait for several weeks in the PICU for the surgeon to return from vacation, the jaw appliance to be manufactured, and J to gain some weight. Once the procedure is finished, the surgeon tells us his breathing will improve rapidly and we’ll be heading out of PICU.
April 10, 2014: J goes into surgery for the mandibular distraction, as well as the placement of a gastrostomy tube for feeding (he hasn’t eaten by mouth at this point in almost 4 months). While the procedures themselves are a success, he has a poor reaction to the anesthetic and leaves the operating room on dopamine.
April 10 – 24, 2014: J remains on the ventilator for 10 days while his jaw is dialed forward. Connected to his poor reaction to the anesthetic, he has significant edema, including pulmonary edema. When the fluid recedes and he comes off the ventilator, we find he is needing even more respiratory support than before the procedure. He’s nearly five months old and weighs only 9 lbs. My husband and I decide that we have done all we can for now, and need to get J out of the PICU to see if he will fly.
May 1, 2014: We transfer J to Blythedale Children’s Hospital for rehabilitation. After a few rocky nights initially, J starts to settle in to the lower intensity environment and we start to make forward progress on his respiratory support. The therapists assess him developmentally as a newborn, which is common for infants who have experienced extended hospitalizations.
May, 2014: J starts to make forward progress — he finds his hands, begins smiling in his sleep, requires less and less oxygen, gains weight, even survives a cold. ICU Dad and I start to grow pretty tired of having one kid at home and one kid in the hospital.
June 2, 2014: We take J out of Blythedale and back to Columbia for the day for several follow up appointments. Sadly, we learn he will need three more surgeries this month: he has congenital glaucoma and will lose his sight without a bilateral goniotomy, he has developed an inguinial hernia that requires correction, and the distraction appliance in his jaw is now ready to be removed.
To be continued …