Updated: Nov 4, 2021
Some adorable and dearly loved friends, not from The Hunger Games.
The title of this post is from The Hunger Games, I read all three books and saw three of the four movies. You have to draw the line somewhere and I just could not see the last movie. Phillip Seymour Hoffman wasn't even alive anymore when they filmed it for goodness sakes. In The Hunger Games, that line is said as a little cruel punch in the gut to the people whose fate hangs in the balance. Including those who wind up at the wrong end of playing the odds. The people who knowing that there's only a one in blank chance of being selected as the unlucky winner suddenly doesn't mean a whole lot when you are that one. We've been playing the odds ourselves with our own genetic lottery lately - one time we won, and one time...well, may the odds be ever in your favor.
First the good. Emily does not have NPC. This has not fully absorbed yet. We are so unbelievably happy and feel very very grateful and lucky.
Then the bad, Marian still does. This keeps not going away - it's so strange. Not only that, but we got the results of Marian's NPC confirmation blood test - the doctor's version of dotting their i's and crossing their t's. Everyone prepared us for this to be positive, I believe the words were, "would be shocked if it came back as anything but positive" from one doctor. Which is hard to really find the room for doubt when a doctor speaks so unequivocally. But still, when the results came back as positive, it was a feeling of heavy sadness. The test didn't tell us anything we didn't already know, but somewhere I must have been holding onto the minuscule odds of the genetic test being wrong - that this is all a horrible mistake and there's some other perfectly reasonable explanation.
When I began reading about different storage disorders in September I stumbled across NPC. I literally googled, "storage disorders" and then read through a list of each type and subtype. It was very scientific. I was frantically reading them and saying, nope, nope, not that one. It was kind of awesome. What is the doctor talking about that she probably has a storage disorder? These are definitely not her. I clicked on "Niemann-Pick Disease" next and I thought, "what a horrible name." Type A, infants, severly impacted by age 1 - nope not Marian. Next, Type B, mostly adults, very mild in the world of storage disorders, slowly progressive - that doesn't sound so bad, maybe she has that one. It's allowed on the list of things allowed to happen. Next: Type C. Oh that sounds awful, dementia, choking, loss of movement, death as a child or teenager - well it's better than age 3 in Type A at least, but, no, she doesn't have that. Next. As I was getting deep into the M's in my list, I thought, wait: I'd better go back to Type C to mentally rule it out better, and I re-read the sentence lingering in my mind again. "Early symptoms can be hypotonia (check), enlarged spleen and/or liver (check) and delayed walking (check)." WTF.
Over the next few months, we did not know whether Marian had NPC or any storage disorder for that matter, but I couldn't shake NPC - I kept reading more and more trying to find something where I could say, "oh she definitely doesn't have that." I never found it. I asked some close friends and family to read about NPC and tell me what I was missing - show me the part where we can say, that doesn't fit Marian. I asked every doctor we had, should Marian be tested for NPC. No one knew. The answer usually was she might need to be tested down the road but not now. I'm also pretty sure everyone thought I was crazy and was about to set up a gypsy stand at the side of the road with my NPC premonitions. Let me tell you, it would have been a horrible gypsy stand because I would have been nervously wringing my hands saying, "I think it could be NPC, but please, tell me why I'm wrong - what do you think? Do you think it's NPC? I think it could be but not really. She's making progress so it's probably not, right?"
In some of my fun nighttime reading, my heart stopped when I read about NPC and siblings. The line I read was something to the effect of, couples need to think about whether they want to test siblings for NPC, due to the variability of the disease asymptomatic siblings may test positive, even in rare cases older siblings. It was one of those feelings where you feel completely separated from everything around you, when I realized we could lose our whole family. I told myself, what are the odds that this is even what Marian has? They're so low. Well, apparently not that low.
The odds of being a carrier for Niemann-Pick Type C are 1 in 150,000. The odds of two NPC carriers going to the same law school at the same time, joining the same study group, and getting married are probably even lower than that. The odds of two carriers of the recessive NPC gene - in this case Paul and myself - passing it to a child are 1 in 4. Only a 25% chance that your baby will get this horrible thing that you didn't even know you had - that no one in the history of either of our families ever even heard of. You've probably sensed the theme that I'm horrible at math, but the odds that Marian would get NPC are 25% of 1 in 150,000. It's barely even a statistically significant amount - but it is, because it happened. And keeps happening to families all over the world.
For Emily, she also had a 1 in 4 chance that she would have NPC. When two parents have a recessive gene, it's a 25% chance they will pass on two copies of the gene (a positive), a 25% chance they will pass on two healthy copies (a negative), and a 50% chance they will pass one one healthy and one defective copy of the gene (also a negative). Emily does not have any classic NPC symptoms - although she didn't do my nerves any favors by flunking her vision and hearing test at her four year old physical in February. Not great timing. (Note: she is fine).
80% of the time siblings with NPC present the same way. If one has a swollen spleen during infancy, so will the other. If one starts showing symptoms in preschool, so will the other. However, 20% of the time they are wildly different - even cases where one child died during infancy and their sibling did not show any symptoms until they were 15. Given that the odds of having NPC are so low, these odds of 1 in 4 and 80% similar presentation didn't seem so low, and it was flipping terrifying.
I normally am very open but I didn't want to speak one word about this. Every phone call we have had trying to arrange care for Marian or get NPC information from other people, there was always the question..."and you have a four year old? your other daughter? how is she doing..." A tentative probe into what no one wanted to say - she could have it, too, and you don't know it yet. The unspoken pause, now is when you might say, well, she's falling down sometimes, or she has a swollen spleen too but please don't let her have this. For Emily she didn't have any clinical symptoms that Marian did. She developed perfectly on track. No swollen organs ever detected - but then again, she's never had an ultrasound, I'd think in my mind, racing around in circles. But it doesn't matter that she doesn't have a big belly or was on time to walk. It just doesn't matter, because she could have still had NPC, and there was nothing we could do to control the outcome either way.
They drew the labs for Emily on March 7. We got the results on March 24. It was agony. And I was dreading the call with the results. Completely dreading the one second pause after answering the phone where I would wait to hear the test results. Still reeling from the kind doctor who had to break the devastating news of Marian's diagnosis...."the test did show something...and it's very serious." I can't express the gratitude I have for our amazing genetic counselor who on Emily's call blurted out, "are you ready to hear good news" the moment I answered so that there wouldn't be the fearful moment. She is the best. I said, "yes" of course because who would ever say no to that delightful question. When she went over the results I felt like I was in a dream. I was so so thankful. It's easy to say, well that was a paranoid worry - there was never a real risk. But the reality is, there was. I know families now who have two of their two kids with NPC and even three of their four. It happens and once you're on the wrong end of those odds, you realize it can happen again. You don't get skipped next time because you've had one crappy blow. But, the silver lining is, low odds can be a good thing, too.
I enjoy watching this lovely little show on TLC called Out Daughtered about all girl quintuplets in Texas, it is so delightful and wholesome and I always think, "I am so glad I don't have quintuplets" while watching it. Emily aptly calls it The Baby Show. In one of the interviews, the parents were sharing their fears of their daughter's upcoming eye surgery. The odds for risks are low. But the odds of having all girl quintuplets were something like 1 in 4,000,000 - and it happened to them. I think of that more often than it's probably meaningful, too. But still I do. And if they can handle five babies at the same time twenty four hours a day, film a tv show and have amazing hair. I at the least can pull my hair back into a bun and help our family fight NPC for Marian. And we will win it, and then say, may the odds be ever in your favor - because sometimes they still are.