The second visit was to the cardiologist. I had to explain to everyone, from the receptionist to the doctor, why we were there when no one had heard a heart murmur. I explained that Max needed an echocardiaogram to help rule out, or in, Holt-Oram Syndrome. I was assured by the receptionist that if the cardiologist felt it necessary he would have one. Not really being in the mood to deal with an obstinate receptionist I informed her, nicely, that he would be having the ECG today or we would be leaving. She quickly backed down, surprisingly, and said if the pediatrician thought it necessary she was sure he would have it. That calmed me a little. It was a frustrating experience explaining again and again why we were there and what we needed.
Finally, after zillions of questions, the cardiologist came in. She seemed to be the first person we met with any sense. (One nurse even whispered to ask if Max was adopted and if he knew it. Really?? He's five and he's brown, of course he knows! She was being nice so I was nice back, but Veldon and I had to laugh.) The doctor completely understood why we needed an ECG and that heart issues go hand in hand with the type of ortho issues Max has. She asked a lot of questions, praised him for his cuteness and smarts, and did the ECG! She also assured us Max's heart is completely healthy...mostly healthy, there is one little flap issue that would prevent him from deep sea diving and explained that if he ever desires to deep sea dive he needs to be more thoroughly checked before doing so. The news was bitter sweet. An ASD would have increased the likelihood that Max has Holt-Oram Syndrome and seemingly decreased the likelihood he has Fanconi's Anemia. So as we were sitting, and standing, there listening to the cardiologist congratulate us on Max's healthy heart my stomach sank. We both felt ill. Of course we are grateful his heart is healthy, we are thankful he won't require open heart surgery, but we are concerned about what this might mean.
It might not mean anything. Twenty five percent of people with Holt-Oram Syndrome don't have an ASD so there is still a chance that's what is going on. In my heart I can't believe he has Fanconi's Anemia but then my mind wanders and I imagine hearing his chromosomes broke and he as FA and it takes my breath away! I can't imagine hearing those words, I can't imagine my son having such a horrifying condition, I can't imagine what the future would look like. Most of the time I don't think about it. I don't worry about it, I don't go there! We now wait to have his blood drawn and sent to the Mayo clinic for genetic testing. Our prayer is that Max's body did just forget to grow a bone, nothing more or less. Our prayer is for a normal life for our son, a future of health and happiness. But more than anything we pray that God calls Max out of darkness and that whatever the future holds we walk through it with grace.
Bless the Lord, O my soul
O my soul
Worship His holy name.
Sing like never before
O my soul
I'll worship Your holy name
