Perspectives of The Pompe World

It is no secret that having a baby is hard. Or that having a sick baby is hard. But having a sick baby as a young, first time mom—I’m not sure there is a word for that kind of hard. Many of the parents in the Pompe community share similar demographics but one brave mother shares a unique point of view that separates her from the rest.

Keara is a highly respected mother and advocate for her son Cayden, and here is her story:

“I was only 15 when I found myself staring at the two bold lines on my pregnancy test in my best friend’s bathroom. Scared can’t even begin to describe what I was feeling at the time. I had no idea what I was going to do, but I knew that I had nine months to figure it out. 

Being a parent at such a young age was something I had never imagined for myself. I had plans for my future, and becoming a parent already wasn’t one of them. After the initial shock was over, I calmed down and began to accept that this was now the reality for me. I realized that I would face some challenges having a kid so young, but I never could’ve prepared myself for what was in store when I had my son, Cayden, four years ago. 

When Cayden was born, things just didn’t seem right. For starters, he wasn’t crying when I delivered him. I kept waiting and waiting to hear that first cry, but it never came. Instead, there were people swarming the room and wheeling him away to the N.I.C.U because he was turning blue. Come to find out, Cayden inhaled fluid while I was pushing him out. He spent 3 weeks in the N.I.C.U recovering from his traumatic entrance into this world. 

During his time in the N.I.C.U, he wasn’t progressing at the rate the doctors were expecting. They kept mentioning how he was very floppy, almost always sleeping, and was struggling to eat orally. Because of their concerns, the doctors decided to run a few tests on Cayden. These tests showed that Cayden’s heart was enlarged, but they were unsure as to why. They decided to run a few more tests, one of which was a repeat of the newborn screening that all babies in the U.S.A. receive at birth. It tests for a multitude of rare diseases. However, we were informed that it would take a while to receive these results.

Eventually, Cayden had reached a point where he was stable enough to come home. While I was ecstatic, I was also very nervous because deep down in my heart I had felt that something was off. While I was a first-time parent, I had a lot of experience with babies prior to having my son. But, the doctors felt that it was safe enough for him to come home, and I trusted them.

We were only home for a week. During that week, Cayden failed to gain weight. We had to go to his doctor for a check-up, and they kept questioning me on whether or not I was making sure to feed him. This felt like a punch in the stomach. I know I was young and that was a bit of a concern for them, but I was doing everything right for my baby. I expressed to them that I was indeed feeding my son, but at 3 weeks old he couldn’t even finish a 2 oz. bottle without falling asleep. I told them my concerns, and they told me to keep a close eye on him until we received his test results. 

A few days after his appointment, I received a phone call that I will never forget. The nurse from the doctor’s office told me that Cayden’s newborn screen results came back and that they were concerned he had a rare disease called Pompe disease. This isn’t something they’ve ever dealt with before, so we were referred to a children’s hospital about 2.5 hours away from home. Luckily, the children’s hospital was able to get him an appointment for the very next day, which was coincidentally the day he turned a month old. 

At the appointment, they confirmed our worst fears. And, because of the poor condition that Cayden’s heart was in, they told us that we would not be leaving the hospital. This was a shock. I was now 16, hours away from home, and had nothing with me except for the clothes on my back and a diaper bag for my newborn. Instead of celebrating him turning one month, we were trying to make sure that he would live to see another week. I can’t tell you how long I cried that day. I remember rushing through the hospital with my baby in my arms as the staff there quickly made room for him to stay. 

We spent the next 6 weeks in the hospital. It was very lonely. What I had thought was going to be an amazing time in my life, turned out to be one of the most depressing times. I hardly got to experience life outside of the hospital with my baby until he was almost 3 months old. Looking back, I know it was where he needed to be at the time, but that doesn’t make it any easier. Sometimes I feel that I was robbed of the newborn stage as a first-time mom. This was such a traumatic time for both of us.

Over the years, we’ve been through a rollercoaster of events. It gets a bit lonely sometimes, but I know when times are tough I have a family full of other Pompe moms, near and far, ready to help support us in any way they can. They don’t care that I’m young, which means a lot. I had feared that I would be judged by some for having a child so young, but that was never the case. I truly don’t know where I would be without these ladies!”

Keara has faced so much adversity at such a young age. Her situation has left her little choice but to mature rapidly and face many odds. Regardless of the support that is poured out for her in her community, there is no doubt that it would still feel isolating that her situation remains unique. Keara works hard to ensure her son gets the best care and that their story brings awareness. She is a treasured member of this community and an amazing resource for hope.

See some of Keara’s educational articles at pompediseasenews.com or follow her sons journey at https://www.facebook.com/Caydens-Journey-With-Infant-Pompe-Disease-453598028391921/