The Reality of My Child's Rare Disease

As a parent, you want nothing more than for your children to be healthy, happy, successful humans. You would do anything and everything in your power to protect your kids. You would go to the ends of the earth for them. So when your child is diagnosed with a rare, incurable disease, it sets a stone in your stomach and a hole in your heart that will never go away. This is my reality. This is my son's reality. This is the reality of rare disease.

Jericho didn't have the easiest entrance into this life. Labor with him lasted 26 hours, and it took nearly an hour of pushing to get him out. He was wedged sideways in the birth canal and he had his umbilical cord wrapped around his neck. We were young and alone and scared and trusted the team of medical professionals in the delivery room to get him out safely. It was such a traumatic experience for me that I panicked and shouted "no!" when the nurse attempted to hand me my newborn son. To this day, it is still one of the most painful moments in my life. I would give almost anything to go back to that instance and wrap my bruised, swollen, solid-purple-hued babe in my arms and soak in his newness. 

We were told the bruising was caused by his positioning in the birth canal and that it would clear up in a couple of days. On the second day there, the doctors noticed he was pretty severely mottled, which they also said would clear up in a few days time. We called him our sherbet baby with all the pink, purple, and orange patterns covering his little body. Every time there was a shift change and a new nurse would come to check on us, we would have to explain his coloration. Bedside manner was not a very practiced thing in that particular hospital and we heard a lot of remarks such as "is he supposed to be that color?" 

At our two day check-up, Jericho was still very mottled. The doctor reassured us that it would clear up, but that it may take up to a few weeks. At our two week check-up, we were told it could take up to a few months. At his three month check-up, we were told they had no idea why he was still mottled, but eventually it would go away. At this point, I was starting to feel very unsettled about it. I had already had numerous strangers comment on his skin. Most of the time, they would ask why he had a rash. I would then explain that he was simply mottled, and that was usually followed by advice from the stranger on how to clear up his rash, because they were certain it was a rash. They know what rashes look like.

I was taking night classes at the this time, and we had a sitter come stay with Jericho for the hour between when I left and my husband came home. Maybe it was because we saw him every day or maybe it was because it was hard to see past the mottling sometimes, but it wasn't until the sitter pointed it out that we noticed his right leg was significantly larger than his left. We immediately took him to the ER, thinking that something had happened and his leg was swelling. Since I was home with him except during classes I was wracking my brain trying to figure out how and when anything could have happened to cause that much swelling.

I wasn't the only one who was stumped. We ended up spending almost the entire night in the ER and saw a wide variety of doctors. Nobody could explain the swelling. They were calling colleagues to try to get ideas of tests to run. They tracked the swelling every 30 minutes by measuring his limbs. This is how we learned that it wasn't just his leg, it was his arm as well. Had he rolled off the couch? Had the dog laid on him? Had I laid on him? I searched my mind trying to figure out how this had happened, but I couldn't think of anything that could have possibly caused this extent of swelling.

We had several follow-up appointments in the days and weeks following that night in the ER. Blood was take. Measurements confirming the swelling hadn't gone down. I remember the first time they took x-rays and I had to pin him down on the table. That is one of the most heart breaking and loneliest times in my life. By the time a month had past, we still didn't have any answered, and we were asked not to bring him back for anything regarding the swelling unless it got significantly worse. Needless to say, I began looking for another pediatrician. 

Fast forward about six months. At this point, Jericho was behind schedule for his vaccinations because we were constantly being refused due to his "rash." We had finally found a pediatrician we liked who actually listened to our concerns and had made us a promise to search exhaustively for answers for us. This is when we started learning about hemihypertrophy. His doctor was fairly certain that was what was causing the right side of his body to grow larger than his left, but we needed a geneticist to confirm. We were scheduled to move to a new duty station later that year and all the geneticists within a 250 mile radius of us were booked solid until the following year. As badly as I wanted answers, I had more waiting to do.

Once we got settled into our new home in Florida, we set to work getting Jericho the medical attention he needed. His new pediatrician wasted no time putting in referrals. The months that followed are such a blur. Some of his specialists were only an hour away at a children's hospital in Pensacola, but his geneticist was a little over 4 hours away at UAB. We spent a lot of time in the car during those months. And we spent a lot of time in doctor's offices hearing some pretty scary statistics regarding Jericho. I remember crying in the car while my husband drove us home from the umpteenth appointment and telling him that I wish, just once, we could make it through a visit without hearing cancer being brought up. 

Finally, after what felt like a million evaluations and consultations, we had an amazing team of specialists who provided us with answers and a "treatment" plan. Jericho has what is known as Beckwith-Wiedemann Syndrome. It's an overgrowth syndrome that causes parts of his body to grow at a faster rate than others. The condition of his right side being larger than his left is called hemihypertrophy. In some cases, hemi only affects one part of the body. But in cases like Jericho's, hemi affects the entire side, from his bones to his intestines. His hair is thicker on the right side and he had all of his teeth come in on the right before any came in on the left.

There is no cure for BWS, and since it is an overgrowth syndrome, it puts Jericho at an increased risk of developing childhood cancer. With my family's history of cancer added into the mix, Jericho had about a 40% higher chance of developing childhood cancer than a "normal" child. Because of this, he has to go in for a blood panel every 6 weeks, a renal ultrasound every 3-6 months to check for tumors and have a check-up with his oncologist, and see an orthopedic surgeon for x-rays twice a year. It's a lot to put him through, but I am so grateful for such a diligent team of medical professionals.

So far, all of his testing has come back clear, and the discrepancy in his bone growth between the two sides is small enough at this point that he does not need surgery. Sometimes, the size difference gets to be so great that doctors will go in and break the growth plate to slow down the hemi side. He will most likely always be mottled as a result of BWS. He also has a speech delay which very well could be attributed to it as well. There is still a long way for medical science to go in order for us to really understand his condition, and although I wish he did not have to go through all of this, it's an honor to be part of the scientific development that's happening surrounding BWS.

We still get approached by people in the grocery store with unwarranted advice on how to cure his rash. More often than not, parents will pull their kids away from Jericho and ask me if he's contagious. Any time I explain his condition someone always says "you can't even tell." I can tell. I can tell when I'm restraining him in my arms while the lab technician takes his blood. I can tell when his oncologist talks to us about treatment plans should he develop cancer. I can tell when, nearly every single day, someone makes a comment about his skin. I can tell whenever he gets sick and I panic, thinking maybe something more serious is wrong this time.

I know people don't mean the harm they cause by their remarks, but it's important to know that just because you don't see it or understand it, doesn't mean it's not there and it's not serious. There is nothing I can do to make all this go away for Jericho, and that kills me. Having a child with a rare disease can be so frustrating in the aspect that, as I mentioned before, there's not a ton known about it yet. We don't know why he has BWS. We don't know how it will progress as he gets older. We don't know a lot. All we do know is that he is our amazing, lopsided sherbet baby, and although we wish he could go through life without this obstacle, we wouldn't change him for the world.

-Maddie Rose