When Two Children in a Family are born with Liver Disease

(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.

Normal Pregnancy

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.

Patrick

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 20^th 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.

Patrick Normalizes

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.

Two Survivors

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.

More about that Kraken

This is an addendum to my Beastie post. I read the Vatican letter I linked to, and this article The Vaccination Question, and the bottom line from what I gather is that vaccinating one's children with the illicit vaccines is remote mediate material cooperation with abortion. That's not good. But it's remote, and passive, not direct and active. That makes it less bad. It's not as bad as Elizabeth, anyway. And in cases of "significant risk" this diluted form of moral responsibility might be permissible.

This may not be of interest to anyone who's not a convinced Catholic. (But then, I don't think anyone's reading this blog anyway, and if anyone is, they are probably Catholic or sympathetic to Catholicism). I wanted to write this out anyway, though, in order to make it as clear as I can what the Vatican presently says about this issue.

From the article:

The Vatican paper attempts to address the dilemma parents face. Parents have a sure and certain moral obligation to promote the health and well-being of their children, and vaccination, in general, is part of that parental responsibility. However, the vaccines which utilize these human cell lines derived from aborted babies are immoral. Their manufacture and distribution is morally illicit "as a matter of principle." Using the vaccines represents cooperation with the evil of the original abortion, even if in a remote and passive way. Thus the recommendation that parents make "an objection of conscience," up to, and including, abstention from use.

Except, the paper says, when "significant risk" exists in refusing to use them. This is not an insignificant caveat.......

The "significant risk" gives Catholic parents a loophole. The Vatican letter, I believe, says we "may" use illicit vaccinations if there is no alternative, in those cases.

Were we remiss?

I know many families who don't choose to vaccinate their kids for varicella. Not many with a liver transplant kid though. Were we obligated to immunize our kids?

I pondered this a lot while walking and saying Rosaries by the lake with my precious Aidan.

WERE we remiss?
Were WE remiss?
Were we REMISS?

(Different but equally agonizing guilt nerves twanging with each different emphasis)

I do not know. That Kraken looks just as evil and hungry as it did before. And the original aborted baby was just as precious as Aidan is. (I think I have another angel in my heart now, along with Aidan's donor).

No easy answers.

Keeping a Vigil

So much of Aidan's journey has been about waiting. He waited for his transplant. The other day, we waited to talk to the GI nurse, then waited to get Sean to the PCP so he could get the varicella diagnosis confirmed, then hurried down to Children's Hospital .... to wait, to qualify for the Human Varicella Zoster Immunoglobulin.

Then we waited again. Waited to see how the virus took its course through Sean; waited to see if and when Aidan and his siblings would come down with the varicella.

Waiting takes a particular form. Up here at his grandma's cabin, we divide our days between walking with the stroller, walking down to the lake, watching Pokemon videos, playing with grandma's tops, playing in the sandbox, and then of course, meals. I talk to Liam about books and writing. I drive down to run a couple of errands with Kevin; I drop off Liam and pick up Clare, who talks about books and movies and brings a distinctive feminine element to our vigil up here in the mountains. It reminds me a bit of some of Aidan's "frequent flights" to the hospital, but I am not as lonely and here, the natural world is a consolation. It guides waiting into a peaceful cycle. The lake moves from silky tranquility to cheerful choppiness and back to a rosy stillness. More restful than the fluorescent light cycle and 4 hour vital sign check rhythm of the hospital. And there is more room to walk. Walking is a great aid to waiting.

I say lots of prayers. I call home several times a day to remind Sean to take his acyclovir, to inquire about changes for the better or worse, to assess his well being as well as I can over the phone. He never sounds really ill, and after a while, I expect less and less that he will have a difficult course with the varicella. It is Day Six now and the pocks are disappearing.

I make plans to come home.

We wait now for the beginning of the symptoms in his siblings.

Waiting is a discipline. I never knew how carefully you had to balance preparation and watchfulness with quietness and perseverance. It's like the days when we had to give Aidan his many medications through his feeding tube, slowly and with painstaking care, over the course of an hour. Too fast and the whole lot would come out. Too slow and we would be behind schedule, because not long after we got one lot in, it would be time for his next set of meds and we would start all over.

The waiting is like a stream flowing at a tranquil rate. There are eddies underneath, of stress and turmoil, but I have to put them aside for now. It could speed up any time and there would be white water and maybe even a cascade. Or the stream might ease itself almost imperceptibly back into calmness.

Saying Hello to the Beastie

Kieron Thomas, whose middle name puts him under the patronage of a Philosopher, put it elegantly:

"I wouldn't want to be protected from chicken pox if it meant I was safe because of the death of a little baby! That would be like Elizabeth betraying Jack so that she could save herself!"

I really really needed to hear that, because the unspoken Elephant, or perhaps tentacle waving Kraken, in the PCP clinic and then the GI clinic all day was: "So WHY didn't you have your kids vaccinated in the first place?" No one asked. They just worked all day to patch us up and fix our lapse. It is not the role I like to play. I like to be the Super Medical Mom who is the first to notice problems, the last to be an unnecessary annoyance. The GI nurse had to stay with us until 2 hours after her normal go-home time, until the whole hospital was locking its doors for the night.

It made me realize how much our society's virtue is about protecting yourself. I feel it, and I try hard to abide by it, most of the time. Some examples:

• WHen Sean broke his leg badly when he was eight, when he was riding his bike, we entertained ourselves by counting up all the times the EMTs, paramedics, emergency room staff, hospital ward staff and orthopedic follow-up doctor said, "Riding your bike, eh? Were you wearing your helmet?" (He had been -- but with an 8 year old's logic couldn't figure out what wearing a helmet had to do with your LEG).
• You strap yourself and your kids in car seats for protection.(and I do)
• You "protect" yourself from having more than 2.2 kids or kids too early or late in life (boy, I flunked that one).
• You protect yourself and your kids from radiation by using sunblock, from WNV by wearing insect repellent, and from dehydration by carrying a sippie cup wherever you go. (I do MOST of the time).
• You are considered a second-class citizen, isolated and disapproved of, if you are a smoker. I saw someone at the airport carrying a case of duty free cigarettes emblazoned with the bold label: "By smoking you are causing harm to yourself and those around you." (I am not a smoker, but I do notice how society is positively Victorian about the dirty weed nowadays)

These examples vary in substance and in sense. My point is that our society equates virtue with being safe and very often, that means putting some sort of barrier around yourself or in yourself to keep you detached from whatever threat it is. But barriers aren't neutral. Their presence changes things. We aren't the same people when everything is about self-preservation.

We sat all day in the GI clinic because of the 37 page document the health care professionals had to weed through in order to give Aidan the varicella-targeted immunoglobulin. The doctor, whose has known us since Aidan's babyhood, said, "This is almost as much paperwork as you need for a transplant!" He went on to explain about how most of it was listing the factors for disqualification, the exemptions, the side effects, limiting the promises of efficacy......

I said, "That's their way of shifting the whole thing over on us," He laughed and said, "There you go! That's exactly it. They want to say, "we warned you!' so we don't come after them. That's what all these papers are about."

It is about protection for the drug companies too. It's not a bad thing all the time, or even most of the time. Most times, it's a good thing. We live in a remarkably safe country. But when you go against that Moral Law of protection, you feel like a bit of a scoundrel, a moral regressive, even if you think you have good reasons. At least I do. I think it is seeing our tired nurse sitting there patiently monitoring Aidan's vital signs. Protecting him from anaphylactic shock. After a day of wading through paperwork and procedural things. Protecting him again, at personal as well as professional cost. Protecting us from feeling the cost of our "mistake". I want to be on the good side of that battle, so it's hard when I'm not. Or seem not to be.

But I think Kieron was right, and I think that if we went back in time I would have to do it the same way, even if the conviction seemed a bit abstruse and thin compared to the bother, expense, pain and worry of these days, not just for us but rippling outwards.

Anyway, we got the VZ immunoglobulin... which cuts the risk of getting the disease down to about 30% -- and may minimize its course if he does get it. Protection again -- and we are grateful that health care professional's discipline is about health set aside from moral judgments, because if it weren't, our own morality would be at the mercy of that of the professionals.

And the little baby whose life was not protected would be forgotten and passed over in the name of Protection. Then Protection would be that unspoken -- but hungry -- tentacle waving monster in the room.

How to Sublimate a Sense of Helplessness

When a teenager in your family complains of stomach pain and remarks on a few painful red bumps, and new ones keep slowly appearing...

You go and look up all the things that would cause single small red bumps, and you find that yes, the single most likely cause would be chicken pox. Finding that the parent-targeted articles are sort of superficial, you google varicella . You remember that at the time of your little one's transplant, chicken pox was said to be something that you really, really wanted to avoid. You look up "chicken pox post transplant children" and find Dr Punch's article "Infection Risks Post-Transplant".

A new chicken pox infection is a very serious matter for a patient on immunosuppression because the virus can cause more than the usual rash in these patients. It can cause a viral pneumonia or hepatitis, and these problems can be life threatening.

Yes, you had already gathered as much. During the day you keep researching. You still can't tell whether the teenager really does have chicken pox, but you want to be ahead of the game..... just in case. You find that for pediatric liver transplant recipients, VZIG shots after exposure and intravenous acyclovir appear to brighten the odds.

You send out a prayer request to friends that know Aidan's history and presumably will understand an anxious mom's feelings. Yes, they understand.

You do a little research on varicella vaccinations to remind yourself why you didn't get your 3 healthy and unexposed children vaccinated in the first place. You try not to second-guess. You deduce that your teenager most probably picked up the virus, if he DOES have the virus, on the flight back from an international trip where he was sitting separately.

By afternoon the teenager is running a temperature and the spots are more like classic vesicles. You have him call his coach since he is not going to practice. You call Aidan's GI nurse and find that she has left the clinic already, so you leave a message. You make family plans -- quarantine for the teenager and medical intervention for Aidan. You worry a bit about the teenager, because you have found that varicella in the adolescent population carries more risk than for children (he is just on the borderline between the lower and high risk age group).

You send out a more definite prayer request update and get lots more responses. You try to rest in God. And not second-guess, since that is your weakness.

By the next day you are googling terms like visceral dissemination varicella and finding that acyclovir does seem to have considerably brightened the outlook for immunesuppressed varicella patients. Reassuring, but.... there is always that provisional "but" when you are thinking of YOUR precious, beautiful child, who has been on the minority side of the odds so often, for good or ill.

You know that the immunoglobulin shots have some effect up to 96 hours after the exposure to varicella, and you know that your teenager was infectious for about 48 hours before the spots started appearing, so you figure the shot could still do Aidan some good. You are up at dawn steering Aidan away from his sleeping brother and just enjoying his beautiful good health and good spirits, that you have been taking a bit for granted recently.

You wait for the phone to ring. It seems like forever.

Why I am blogging about Aidan

The PICU attending told us, "Your son is way out there in the stratosphere of medical miracles." This was way later, when we met him during a much less critical hospitalization. He went on to explain that our 4 week old had not only had a cirrhotic liver but also, when he first arrived there, was in the grip of ARDS. 90% of babies with NH die before transplant. 30% of adults with ARDS don't make it, and some of the rest have permanent lung damage. And here was a neonate who weighed about 4 pounds.

At another time a resident told us "they usually don't get over it" -- "IT" referring to the fungal meningitis they diagnosed him with soon after his transplant when he was massively immunesuppressed. Again, this was way after Aidan was over it, on a clinic visit. They took him off anti-rejection meds in order to give him a chance to fight the fungal infection, and of course he had a rejection, which they had figured was better than the alternative. I have no doubt they were right. Then they treated the rejection. Rejection sounds scary to most people, but it is not as scary to doctors as fungal meningitis.

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I have been wondering whether it was the right thing to do to start this blog about Aidan's past. Especially when he is relatively healthy now, and some of his peers are having ongoing crises, and their parents don't know what the outcome will be. Aidan got through the grim gate, though the teeth left their marks, and there may be other gates in the future.

Is it selfish of me, obsessive, depressive, something pathological?

But then, on the other hand:

• I want to be able to remember all this someday, for Aidan's sake and for my own. Sometimes I try to remember details like when Aidan had his last surgery, when he was dealing with that bile duct problem, when he learned to sit. I don't have it written down except in little scraps of journals and calendars here and there. There is so much to remember, and I want to be able to remember.
• I want to be able to get it out of the underside of my mind. When I started writing I felt as if a cloud had lifted. Finally, grabbing those shadows and pulling them out from under that bed. Perhaps this is selfish, but on the other hand, it's also free, unlike a therapy session or an antidepressant. And no one has to read this blog if they don't want to. That's free, too (and if you notice those mixed metaphors, please interpret them as a sophisticated depiction of the post-stress mom's confused state of mind, not just confusion plain and simple : )
  
• Also: I want to have something out there for other parents of NH children or other devastating conditions. In one way, it does not matter if no one ever reads this blog besides me. In another way, I think it does matter that it's out here in the public record, because Aidan's story is unique but it also fits into a wider medical category where there is not that much information or support as yet. Even if no one reads it now, there might come a time when it will be useful to have it out there. Or so I tell myself. There, I feel much better already.
  

I remember one time I had to call the transplant director for some quite innocuous thing. Aidan was doing fine, so I wasn't stressed, right? It was something about getting labs done on me for research into the maternal factor in NH. This physician had fought with Aidan through enough way out there events to fill a medical journal; we had a good working relationship. I had to leave a message on his voice mail. I've left countless messages on voice mail; I can do it at least adequately. This time, I started stammering. I stammered as I left the message, real stammering, as if my teeth were chattering. The totally unexpected stranger who had taken over my voice couldn't seem to figure out how to manage this event, so I kept stammering my way through my stupid little message. I must have sounded drunk or demented (Heey Dr R, y'want to share a beer with Aidan and me??) , and for a long time afterwards I expected to get a call from a kindly medical social worker asking tactfully how things were going. I still wonder what the doctor must have thought and sometimes I wake up cringing, thinking about it. Anyway, he didn't return the call. No wonder. Obvious psychotic issues would probably invalidate the lab results, anyway.

Another liver transplant mom told me she just barely stopped herself from throwing an IV pump out the window once. The thing wouldn't stop beeping and giving her an "occlusion" message. This was her first realization that she was seriously stressed. The stammering was my first realization. A lot of times you think you're coping but you're really just stuffing it under because you can't afford to deal with it right then. That's a legitimate survival tactic, a sort of psychic equivalent of the physical shock that helps you keep your basic systems going, but you can't keep going that way forever. Someday you have to deal with it. That's why our transplant coordinator says that post-crisis is sometimes the most difficult time.

Aidan's iron, and a bit about my quotes

When we first arrived in the university hospital where Aidan was to await his transplant, Dr R introduced himself to us and for the first time we got a diagnosis for our child. We knew his liver was in the last stages of cirrhosis but we did not know anything else.

Dr R, who was the liver transplant director, told us that the diagnosis was Neonatal Hemochromatosis. The basic information is here. At the time, Dr R was very careful to tell us: our baby did not have hereditary hemochromatosis. This is a very different condition; an iron storage disorder caused by some sort of gene mutation.

In Aidan's case, however, he had received his extra iron, which had destroyed his liver in utero, from his mother. Me. I don't have any medical problems, at least not the kinds that affect me, but when I am pregnant, I transmit way too much iron through the placenta. The present research hypothesizes that this is due to an alloimmune response of my body to that of my fetus. This alloimmune response sometimes does not trigger until later pregnancies. Aidan was my 8th pregnancy, though only six came to term. The others were all essentially health and my pregnancy with Aidan was textbook normal for a grand multipara. I suppose I am way out there in the statistical zone since most mothers do not have that many children, and NH is way rarer even than 8 pregnancies.

Kevin and I were told that Aidan would be put on a heavy-duty chelation cocktail while he awaited transplant. No hope of fixing his liver; just hoping to slow the end stage disease process . The thing with livers is that they process proteins which are the building blocks of growth. Aidan was in a Catch-22 -- he needed to grow in order to have the transplant but you need a somewhat functional liver in order to grow.

The doctors at the university center were honest with us. They told us the statistics -- grim--and that this would be a battle. A marathon, was the exact term. Other parents may feel differently about this, but for us it was refreshing. We didn't want to be patted on the hand. We'd done that at our home hospital and then when reality hits, you are blindsided. We wanted a team who would face reality and commit themselves to doing their utmost for our child, and this was what the team emphasized.

We were also told that any future child would have >80% chance of having the same condition. At that time the only treatment options were the wryly named "chelation cocktail" and eventual transplant.

My present blog title, though I may change it, came from a poem by Robert Browning. I thought it evoked the strength of the disease and Aidan's victory, with a few scars where the iron gate's teeth caught him on the way out. It looks a bit grim up there, though, and I don't want this to be a grim blog, so I may change it.

The other quotes:

Of what use were wings to a man fast bound in chains of iron?
Afflictions are but the shadows of God's wings.
"...to have faith is to have wings."

I put the first one up there as a rhetorical question. The answer is that wings were of great use to Aidan. Wings are of course to be understood figuratively as the immaterial things that bear us up through the worst times. Things like the commitment of a medical team, the prayers and support of friends, the hope and love of relatives, his own courage and joy during his struggle. They were stronger than his "iron chains" (shameless puns here; thanks, Dad!)

But it looked too despairing by itself, so I put up the others.