I’m skeptical that my son with Pompe will ever stand on his own

I wrote a column this spring about my 5-year-old son, Cayden, needing to see an orthopedic specialist again. Well, we finally had that appointment late last month, with a doctor he hadn’t seen before. It didn’t go as well as I’d hoped.

When Cayden’s metabolic specialist sent the referral to the orthopedic team after his last Pompe disease checkup, it noted that he needed to be seen for “bilateral knee pain.” Cayden actually has multiple issues in his legs, in addition to chronic knee pain. He also has it in his hips and feet, along with extreme tightness and contractures.

The orthopedic doctor we saw told us he wasn’t familiar with Pompe, including Cayden’s type, infantile-onset. That’s not uncommon; it is, after all, a very rare disease. I’m no stranger to explaining Pompe disease to doctors. It’s usually something they’ve heard about only in medical school, unless they specialize in rare or metabolic diseases.

Our goal for the appointment was to learn a way to get Cayden’s tendons and muscles loosened up so he could possibly wear his leg braces and get back into his stander. But this doctor said he wasn’t comfortable making those recommendations.

The problem is, Cayden is just so tight, and has been for his whole life. He had surgery to correct the contractures in his hips when he was about 2 and a half years old, but aside from that, the only thing we’ve tried is DAFO braces on his feet and ankles. Every time we put them on, however, he cries and complains. He tells me it hurts, and he can hardly last an hour in them. Ideally, they should be worn all day, but we’ve never been able to make that happen.

I understand the need for the braces and the stander. But as a mother, I can’t and won’t watch my child scream and cry in pain just because we want to put weight on his legs and get him in a standing position. I faced the harsh reality years ago that my child will never stand or walk on his own. Pompe disease has taken that ability from him. It’s a hard pill to swallow, but it’s the truth.

Cayden’s physical therapist said we could try serial casting to correct the tightness in his feet and ankles. The orthopedic doctor didn’t see this as a good option, however. Cayden shed tears when the doctor hardly pushed on his feet to stretch them. I can’t imagine the pain and discomfort he’d be in if serial casting put him in that stretched position for six weeks.

Another potential option the doctor let us know about was tendon lengthening surgery, but that recovery is pretty brutal. I’m just not sure I want to put my son through such a painful procedure and aftermath if he’ll never stand or walk.

The doctor suggested we see someone more familiar with Pompe, who’s dealt with children who have muscles and tendons as tight as Cayden’s. We followed his suggestion and have an appointment for the end of August. I look forward to it, but I’ll admit I’m a bit scared to get my hopes up.

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