(This is an old article I wrote for the CLASS newsletter. I'm moving it here from my general blog because it fits here better).
Aidan and Patrick
Our two youngest children, Aidan and Patrick, have the same birth condition. It is an extremely rare disorder called neonatal hemochromatosis, in which far too much iron crosses the placenta from maternal stores and is stored in the unborn baby’s liver, resulting in severe liver damage and often organ failure just before or after birth. The statistics are pretty grim – only about 10% of affected infants survive, and almost all of these require a liver transplant. The only bright side is that the organ damage is done in utero or just after birth, and so a successful liver transplant is a “cure” for the disease.
We have five older children, all healthy, and my pregnancy with Aidan was normal. It wasn’t until he was born that we knew there was anything wrong. He was less than five pounds at almost full term, and jittery and hyper-alert from an extremely low blood sugar. He spent two weeks in the nursery receiving antibiotics, though he did not test positive for any infection.
Home for a Week
After the antibiotic course, we brought him home, but only for a week. Aidan grew increasingly yellow, and though feeding often was not gaining any weight. He was admitted to our regional Children’s Hospital with a total bilirubin of over 20, and there an ultrasound revealed severe cirrhosis of the liver in our infant of only 4 weeks old. Plans were made to transport him to UCSF Medical Center; while waiting, he went into cardiac arrest. His lungs had filled with fluid – upon arrival at the UCSF PICU, he was diagnosed with ARDS, a severe form of pneumonia. At that time, we met Dr Rosenthal, the medical director of the pediatric liver transplant team, who gave us the diagnosis of neonatal hemochromatosis and let us know that at this time, Aidan was far too small and unstable to even be evaluated for a transplant. He would have to stabilize, and grow, even with a basically non-functional liver. It was difficult to hear, but we were so relieved to get a diagnosis and have a better idea of what we were facing.
Minute by Minute
So we waited… it was minute by minute for several days as Aidan went on a high-powered oscillating ventilator and retained fluid to the point where even his head was swollen. Friends and relatives from all over prayed for his survival. Miraculously, he did eventually stabilize and come off the respirator. Then it was up to the NICU for several months to grow – he had to be at least 5 kg, or 11 pounds, to be a candidate for a transplant, and at that point he weighed less than 3 kg. My husband Kevin was evaluated as a living donor, but his liver was too big for our tiny little son. We moved into an apartment in San Francisco to be closer to our little fighter and keep our family together as much as possible. Our older kids are homeschooled, and my husband works from the home, so it was not as difficult as it might have been to relocate at such short notice.
After the Transplant
Aidan did get his transplant at just barely 4 months old. He had a difficult time afterwards and ended up spending almost the whole of his first 7 months in the hospital. He had a stroke, due either to an infection or an intraventricular bleed, and for some time was completely paralyzed on his left side. Later on in his first year, he had some complications with bile duct strictures and had to have several surgeries and an antibiotic course for cholangitis. He had to get a G-tube at 1 year of age because he was not eating by mouth. In all, at this point he’s spent about a year of his four years bouncing in and out of various hospitals for various reasons. Because of his stroke, he has some developmental delays – he has difficulty walking and is just learning to speak in short sentences. He is a wonderful little boy with the eyes of an angel, and a great sense of humor. He loves songs, and rhymes and jokes. He has just come out of the hospital again after a month-long stay at UCSF for neurosurgery, and we are hoping that now he can get some healthy time at home to grow and thrive.
When Aidan was almost three years old, we found I was expecting Patrick. We knew that the chances were high that Patrick would also have neonatal hemochromatosis. Statistically, once one child is born affected, the chances of subsequent children having the same condition are over 80%. My husband had corresponded by email with Dr Alex Knisely of Cambridge University UK and Dr Peter Whitington of Memorial Hospital in Chicago. Dr Whitington has been using an experimental protocol of IV immunoglobulin treatments for pregnant moms who had previously borne a child with neonatal hemochromatosis. IVIg is expensive, but fairly safe for mother and infant if administered with proper precautions. His results, though limited to only 12 cases at that time because of the extreme rarity of the disease, were excellent. All the babies had been born with high ferritin levels suggesting an iron storage problem like Aidan’s, but all of them had survived, and more than that, flourished without need of a liver transplant. This was a far better outcome than would have been expected with no intervention.
A New Protocol
Our genetic counselor Dr Cynthia Curry requested the protocol from Dr Whitington, and so every week from the 20th week of gestation until delivery at 36 weeks, I checked into the hospital for a course of IVIg administered over 4-6 hours. Patrick was due around Christmas, but was induced in early December because he wasn’t growing well. Like Aidan, he was low birth weight and hypoglycemic, but unlike Aidan he was clinically stable after his blood sugar was brought to normal levels, and his liver looked normal in an ultrasound. He did have extremely high ferritin levels, and his liver function tests were elevated. He was airlifted to UCSF a day after his birth, and received the same anti-oxidant and chelation therapy that Aidan had undergone pre-transplant. He also underwent evaluation for a possible transplant. Though we hoped for the best, it was a scary time, as so much of Patrick’s journey echoed Aidan’s.
Unlike Aidan’s, though, Patrick’s liver function and ferritin levels normalized over the next few weeks. . In fact, his iron levels dropped a little too low and he now takes an iron supplement. He was discharged from UCSF Medical Center on Christmas Eve and now, at age 14 months, is a healthy and lively toddler. He no longer needs to be followed by the liver transplant team. He is still seen by our local gastroenterology clinic and like Aidan, continues to be towards the bottom of the weight percentile chart, but other than that, medically he has been no more complicated than his older siblings. He has not even had an ear infection yet.
We feel so blessed to have our two little survivors. Both of them have made us realize what a gift all of our children are. Aidan especially has endured so much with such courage and spirit. He’s kept his loving, gentle personality in spite of hundreds of blood draws and invasive procedures. We have learned to really enjoy those times when everything is going well and our family is together. When things are not going so well, we’ve learned to pull together and take each day as it comes. We’ve found friends and supporters from all over who pray and cheer for Aidan and Patrick, and we follow with heartfelt interest the journeys of other kids who are fighting medical battles. I know we are not the only family with more than one child with liver disease. If one medically complicated child’s care can be a daunting task, caring for two or more can be overwhelming. Our experience with that was limited, but we will never forget it.