A Letter to Monica

Monica was a toddler when she was diagnosed, but first we went through multiple doctors who thought she had cancer. It was a difficult few months, but life is back to being wonderful as a family again.

Impeccable fashion, around the time of her diagnosis

Dear Monica,

At your 2-year-old well child check with Dr Z, you looked healthy but he was concerned that you weren’t saying 2-word phrases yet, and recommended speech therapy. I wanted to check on whether you were getting enough iron and asked for a CBC to check for anemia, and to see if you had a gluten allergy that was giving you a hard time gaining weight. After we had your blood drawn, I received a phone call from the lab; they told me some of the blood cells had looked funny and we needed to bring you in for a leukemia/lymphoma panel. I was horrified. Dr Z was out, so I rushed to Dr C sobbing; he called the lab and verified what was going on, berating the lab tech for calling your mother instead of your doctor with the information. The lab stayed open late for us to bring you in for another draw, which you were very unhappy about, and your dad and I spent the evening alternating between caring for you and crying on the phone to your grandparents. We were so scared that you had cancer. Dr C called that night with the news that you didn’t have leukemia or lymphoma, but that your blood was so full of fats that the lab had trouble working with it. Your triglycerides were 2700, when they should be around 100, maximum. He had no idea what could be wrong, but he promised to do some research. Your father and I had a tough time sleeping, even with such good news, worried as we were about what was going on.

Dr C had looked into many options for your diagnosis, but none fit perfectly; you were otherwise so healthy! He decided to send us to a variety of specialists, to see what ideas they had. First we went to Dr O, a pediatric cardiologist; he had never seen a triglyceride level so high, and actually laughed at his own confusion, which was a little comforting and a little disconcerting. He did a complete physical exam and ultrasound of your heart (echocardiogram), and couldn’t find anything out of the ordinary. He commented on your diaper rash, and we agreed that it was weird, you’d had it for a few months and it wasn’t responding to anything, even some strong antibiotic ointment we’d been using since seeing Dr Z. Dr O ordered a few more labs, especially a recheck of your cholesterol levels, hoping that it was a lab error and that you were completely healthy. Your triglycerides were 250 this time which confused everyone; it was still high, but not nearly in the thousands; which lab was the correct lab?

Folk music star (with pink blood)

Next we saw a hematologist/oncologist, Dr A. I was very nervous about seeing a cancer doctor. On his exam, he felt that you had an enlarged liver and spleen, and I could feel it, too. He was also confident that your diaper rash had something to do with your illness. He was worried this could be another, more rare and more serious type of cancer, and ordered labs to that effect, but was also confused because you should be so sick as to be in the hospital at this point if you had those cancers. That was reassuring that you didn’t have them, but anytime your child is being tested for cancer is a terrifying time. We talked about what we would do if you needed a bone marrow biopsy, what it would be like. Dr A drew your blood again right in the office, and just looking at its pinkish, creamy color, he was sure that your triglycerides would be in the thousands and that the 250 level was in error (and yep, it was 2700). He made an appointment for us to see him again as well as a geneticist who only came into town a few days every month, Dr L. Dr A saw how nervous we were about finding out if you had cancer and reassured us that he would personally call us as soon as he had an answer.

That night was the worst we had had so far. All I could think of was what I would do if you had cancer; how I would drop out of school for a year to care for you and dad. Wondering whether I would ever want to go back to my career again. Trying desperately to love you even more, just in case this was one of the last few days I would have with you on earth. But also finding myself pulling away from loving you, since part of me was so very afraid of how much it would hurt if you died. I couldn’t sleep well, and woke early with Dad to just sit in the guest room and hug and cry and talk about our fears together. Dr A called soon that morning to tell us that the preliminary test looked negative for cancer; cancer and inflammatory markers were all very low. A few days later he called again to reassure us that you did not have those cancers. We were so relieved, but also so confused.

Shrinking violet; she put up with so many doctors appointments!

In the meantime, we saw a speech therapist for you; after a few appointments, she decided that although you were a little behind, you weren’t behind enough to need her care. You were adding words and phrases to your vocabulary quickly, and she had no worries that you would catch up easily. What a relief!

Next we met with Dr L on July 31, 2012, a geneticist with an Italian accent. He listened to your story carefully, and then told us his diagnosis: familial lipoprotein lipase deficiency. He told us the only real sure way to diagnose this was only done in Germany, as far as we knew, but since the only cure was to cut the fat in your diet to almost nothing, we should try it and see if it helped. We had lots of questions for him and he was a very kind man. It was a relief to talk to him, but also scary to hear of what your life would be like from now on: less than 10 g of fat per day, threats of pancreatitis if you ate too much fat and pancreatitis’ life-threatening potential. It was nice to finally have a name for what was causing your high triglycerides, enlarged liver and spleen, and diaper rash (xanthomas or cholesterol deposits in your skin), but the diagnosis meant big changes for the rest of your life. It was so much better than cancer, but it was still hard to be grateful. He felt your symptoms would resolve and your appetite would greatly improve if we could just get your triglycerides to less than 1000.

Good luck with that sand, Dad

Next we met with a gastroenterologist, just to make sure we were covering all aspects of what you could have. He disagreed with Dr L and dismissed our protests of how well the diagnosis fit; he had another disease, a congenital deformation of your bile ducts, that he felt was the cause, and he wanted a liver ultrasound to verify it. Since we wanted to make sure your liver was OK, anyway, and it was a very non-invasive test, we agreed. Mom lay with you on the bed while they did an ultrasound of your belly, while Dad danced around and did silly things to keep you happy. Thank God, your liver and bile ducts were perfectly normal!

In the meantime, we started your new diet gradually. Up until now, we pushed fats whenever we could to help you gain weight, and you drank whole milk all night. We started with the milk, each week slowly putting in more of a lower fat milk into your bottles, working from whole to 2% to 1% and finally skim. You never seemed to notice or mind. Hurray! We started watching what meats and desserts you ate, cutting out the chocolate chips that you had always loved so much. After a month on this diet, we rechecked your blood. The results were amazing: triglycerides of 529! We were overjoyed.

At our next appointment with Dr L, I just handed a paper with your lab results over, and relished watching his face as he slowly got to the good news: his eyebrows SHOT up. He was just as amazed and excited as we were. We talked about the next steps: adjusting your diet to keep you healthy, pushing iron until your levels were normal, getting in vitamins every day. But mostly we were all relieved and amazed at how quickly your body was recovering from all this with the proper (difficult) diet. We talked more about where this had come from; your father and I both had to have the rare recessive gene, but as far as we could tell, no one in our ancestors had ever had it. Our children all have a 1 in 4 chance of having the disease, and a 50% chance of carrying the recessive gene like we do. Only one in a million people have this disease. But we already knew you were one in a million!

Your dad and I had a few months of real difficulty with your diagnosis. Your dad was very angry at God for doing this to you. I was mostly sad, and kept thinking of all the foods that I love that I could never share with you, could never be part of your childhood. We did our best to find other exciting foods for you; chocolate syrup, meringue cookies, all the lollipops and sodas you wanted. Food allergies were becoming more and more common, and my friends reassured me that as you grew up, this would be just like having an allergy, and your peers wouldn’t ostracize you for it. You would not be an outcast for this diagnosis. Hearing this gives me hope that this won’t be such a burden for you to bear. One of the greatest fears of being a parent is the suffering that we know our children will inevitably have to face; we want to put off the pain of life for you as long as possible. But with this diagnosis, we have to not only have your blood drawn regularly, but have you fast beforehand, which is hard to explain to a toddler. This is a great difficulty, for you more even than for us. But the greater the difficulty, the more God can do with it. We are excited to see what goods God will bring you and the world from this illness. We love you very much.

Mom

Monica meeting her new sister for the first time, months after Monica's diagnosis