Isaac is a special kid. So is his older sister, Jordan. She did everything quickly. She walked, talked, and put together complex sentences. Isaac developed at his own pace, and we wanted to give him room to be himself. We wondered about his neck strength in his first year. Our pediatrician mentioned the Birth to 3 program our state has. She told us they could come to our house and assess Isaac and see if he qualifies for physical therapy. Soon after this doctor visit Isaac seemed to turn a corner and lift his head like other kids his age.
As his second birthday approached we wondered when he would talk. We finally called Birth to 3 and scheduled an assessment. While it was no surprise that he qualified for in home speech therapy, it was a bit of a surprise that he qualified for physical therapy for his gross motor skills. He had, in layman's terms, weak thighs. Starting in March a physical therapist came to our home once a week and worked with Isaac to strengthen his thighs. He loved it and made progress. But by late June our physical therapist noticed a regression in his leg strength. Two year olds should not regress physically. She suggested we get an appointment with a neurologist.
As anyone who has dealt with a pediatric specialist knows, it takes a while to get an appointment. And we also had a challenge getting it covered by insurance. We got an appointment for September 9, but our insurance company told us they wouldn't cover it because it was coded as a visit for a "developmental delay." It took several phone calls to fix that. We weren't looking to see a neurologist because we thought he wasn't meeting certain benchmarks. We were concered there was something life-threatening that was causing his regression.
The summer, like all summers, flew by and before we knew it we were at the appointment with the neurologist. She examined him, watched him run (he wiggles his hips quite a bit when he runs to compensate for his weak thighs). Three times she asked him to get up from a sitting position, and by the third time he struggled. But the physical examination didn’t produce anything too spectacular. The blood draw did. His blood had a high level of CK enzyme which indicated muscle breakdown. Unfortunately, we were able to log on to his online chart and see the results of the blood test five days before we heard back from our doctor. That gave us time for our imaginations to run wild. What was wrong with him? Why were his muscles breaking down? How could this be happening to our dear boy?
This was the beginning of what seemed like a long process for us. Now that we have been around others in the rare disease community, we realize how fortunate we are. But for months we were in the dark. When we talked to our doctor she told us, based on his presentation, she suspected he had Spinal Muscular Atrophy (SMA). She would put in an order for a genetic test to see whether this was the case. It took a month for our insurance to send us a letter saying they would cover the genetic test. As the weeks passed we were not sure what to hope for. It had been difficult going through the weeks of ambiguity. It’s hard knowing something is wrong but not knowing what’s wrong.
In the midst of this time we went on a ten day family trip to the East Coast for to attend a wedding. The setting couldn’t have been more beautiful. The weather was gorgeous. The band rocked. The food was to die for. This was the first wedding Isaac had been able to participate in. When the dancing started Isaac tore up the dance floor. He looked so handsome in his suit jacket and bow tie. I have some videos of him grinning and dancing that I will cherish forever. I danced with him for a bit, but, overcome with emotion, I returned to my table and wept at the thought that he may not be able to dance at his own wedding, or prom, or even any other wedding. We didn’t know what was wrong, and we didn’t know how quickly he would regress. We didn’t know anything.
So we had mixed feelings when the SMA test came back negative. In a way it was good news, but it lengthened our season of ambiguity. And we knew that whatever diagnosis was coming, it could actually be worse. All this time we were praying for healing. We even insisted that while they had the needle in his arm drawing blood for the next genetic test that they test his CK enzyme again to make sure it was still elevated. We held out hope that the previous test was a false positive or that Jesus healed him. But it was still elevated and they shipped his blood to Maryland for a genetic test looking for 80-some different genetic disorders.
Thursday, January 19, my wife received a call at work with the diagnosis. Isaac has Pompe Disease, a glycogen storage disorder. He lacks an enzyme that helps break down carbohydrates. His inability to get rid of the waste products of this process causes his muscles to break down. Remember when I said it is hard not knowing? It’s actually harder to know what’s wrong. Especially with the Internet. You let your mind go wild with some of the scarier scenarios. We want the best for our children, and this was devastating news for us.
Thankfully we had friends who leapt into action. We got a lot of support over the next week. When my wife arrived at work there was a “sunshine package” for her to support us in our time of need. Friends from far and wide offered support.
As bad as the effects of Pompe can be, there is a treatment. Patients with Pompe can receive enzyme replacement therapy, which although it isn’t as ideal as one’s own body producing it, is an amazing substitute. Isaac started enzyme replacement therapy on Rare Disease Day, which we were unaware of just a year ago. Every two weeks he will receive a four hour infusion which we hope will allow him to continue to live a fairly normal life.
The name Isaac means “he laughs” or “he will laugh.” It is appropriate. He is the happiest kid I have ever seen. That’s why my heart breaks when I seem him fall on his face for no reason. But he is resilient. He dusts himself off and gets back up again with a grin on his face. He’s undeterred. He doesn’t feel sorry for himself and neither do we.
Pompe Disease doesn’t define him either. It’s no secret that he has Pompe, but I don’t introduce him as “my son with Pompe” either. There is so much more to him than his inability to break down carbohydrates.
We see a lot of doctors – far more than we would prefer to see. We’ve worked our way through the pediatric specialists and we will continue to follow up with at least four on a regular basis. We will need to take two days off a month to take him to his enzyme infusions. The road ahead won’t be easy, but we have a lot to be grateful for. We got a diagnosis and we got it relatively quickly. There is a treatment for his disease and we are able to get this treatment just a few miles from our home.
Isaac is a special kid. He has opened our eyes to the world of rare diseases. We’re grateful for those who have gone before us and paved the way for both diagnoses but treatments for rare diseases. We hope that we can play a part in helping others with rare diseases in whatever way we can.