Tuesday, June 7th We went to Noah's annual cardiology appointment expecting it to be a super quick, in and out kind of thing. Noah did great with his EKG and sat perfectly still for it. We waited for Dr. Knilans and goofed off in the exam room. He came in and talked with us and played around with Noah. He listened to his heart and told us (again) that he thought his holes in his heart had closed. Then he said "Well, I wish I could just get up and walk out of this room right now, but I can't." And I just knew. Noah's EKG, which was normal last June (when he was 1 month old), was 5 times worse. The Q wave is as deep now, or deeper than mine. Which mine is really bad. SO....not good. Dr. Knilans told us that the first step was for Noah to have an echo, to double check on the holes, and double check that there's nothing wrong with his heart structurally. He also said that we would probably start him on beta blockers. I asked about doing an EP study (electrophysiology study) and he essentially said he didn't want to do it, because he didn't want to know the results if they were bad, because he didn't want to have to give Noah a defibrillator. Poor, sweet Dr. Knilans. He looked at me and said "Of all the people in the world, you're one of the few that can actually weigh the benefits and risks of having a defibrillator." So, he gave Grant and I a lot of control in the decision making process. I did ask if Dr. Knilans had any intentions to retire in the next 20 years. His answer?? "Not anymore!! And I think you're also responsible for some of these gray hairs!" :) When all was said that could be said at that point, Dr. Knilans looked at me and just said "I'm sorry." Ahh. We went home from that appointment with heavy hearts weighted down with future decisions.
Grant and I decided pretty quickly, I think even late that Tuesday night, that we wanted to go ahead and schedule an EP study for Noah. We figure information is power. We wanted to know. Know if his heart would be quick to freak out like mine. Know if his heart would be basically "normal" functioning like my brother's. We figure we can make the hard decisions, as in defibrillator or not, when and if we have to. We'd rather know just how bad his heart is.
Tuesday, June 14th Noah had his echo. We had to stop feeding him at 4am, and be to the hospital by 7:30. Our little bugaboo was in happy spirits and charmed all of the nurses. He ran around the hospital room and played catch with a ball, naked except for a diaper, and knew no fear. They gave him an oral sedative, and it took him about 25 minutes to fall asleep. About 10 minutes in, he got really agitated. He fought falling asleep by crying, flailing and stiffening his whole body. It was really rough. It took both of us to hold him. He finally gave in. We laid him down on the table and watched as they hooked him all up and did the echo. It took about 15 minutes for the test. As they unhooked him, he woke up. I nursed him right away and he passed out again. We were cleared to leave, brought him home and the three of us, (Grant, Noah and I) took a nap for 3 hours. Poor Noah didn't move the whole 3 hours. He was "drunk" the rest of the day. He couldn't even take 2 steps without falling down. The crazy kid just kept trying to walk! We eventually had to just buckle him into the car, a grocery cart, a stroller, just to keep him from hurting himself. It made for a very long day.
Dr. Knilans called that evening to tell us the results. His echo showed a thickening of the ventricular septum. The piece of muscle between the two ventricles. This is consistent with hypertrophic cardiomyopathy. This disease was never really considered as my own diagnosis because my heart was structurally perfect. Cardiomyopathy, in every form, consists of a thickening of the heart muscle. The hypertrophic kind deals with the ventricles, the ventricular septum and tends to result in deep Q waves on EKGs. It has a strong genetic component. It appears that this is our family's diagnosis. It is a big relief. For almost 17 years, I've had a generic label for my condition. It's been called Primary Electrical Disease. My EKG was so funky, Dr. Knilans had never seen anything else like it. We finally have a "real" diagnosis. It's actualy semi-common. HCM is the number one killer of young athletes. The first symptom is usually death. Like my first symptom. We are incredibly lucky to know about Noah's condition before he experiences a cardiac arrest episode.
The next steps included having me have another echo, to double check my heart, and having the EP study for Noah.
Friday, June 17th I had my echo and EKG at Children's this morning. Dr. Knilans called this evening to tell me my results. Apparently I now am showing some thickening in my ventricular septum as well. The last echo Dr. Knilans had was from 1999. That one was fine. I had another echo around 2006, with my adult doctor. The results were fine, but Dr. Knilans hasn't seen it yet to look specifically at it. Nothing really changes for me. I already have my defibrillator. It kinda stinks to know that I can't claim a "perfect" heart anymore. We now have further clarification that HCM is our family's diagnosis. Our next step is for Alex to have an echo. He's never had one. I am also going to do a blood draw for genetic testing. In about 50% of cardiomyopathy cases they are able to isolate the mutation. If they are able to do so in my case, then we'll be able to test Alex, my parents, my nephews, and even my cousins and have a definitive yes or no for if they have the disease.
Well...that's the story so far. We'll know more after Alex's echo--which will hopefully be soon. We'll know more after the genetic testing--which will take 6-8 weeks. And we'll know a LOT more after Noah's EP Study--which is June 30th.
I don't know if I'll be able to articulate how I'm feeling about everything. For one, grateful. Grateful for all of the support. We've shared with family, a few close friends, and that's about it. Everyone we've shared with has had wisdom for us. And overall, support. We've had so many people willing to cry with us, hug us, pray for us, watch Alex, listen, etc. It's truly amazing. I'm grateful for Dr. Knilans. I trust him so much. I'm grateful for modern medicine. I'm grateful for my sweet baby boy. He won't let anything get him down. He'll fight through however much he needs to.
I'm also devastated. Devastated that Noah has to go through a lifetime of testing. Devastated that I gave this to him. Devastated that he might have to have a painful surgery. I can't quite even go there yet.
I also feel peaceful. God is working. God is here. He's holding Noah. He loves Noah even more than I do. We've asked for everyone to pray for clarity. We've prayed for clarity. We've asked for clear decisions. God has answered. We have more clarity now than we've had for the past almost 17 years. Each step of the way, so far, has felt logical and like an easy decision. Of course, the hardest decision is still in front of us.
So, I ask you to pray. I feel so torn. Overall, I want God's will to be done. This disease is not of God. God does not bring death and disease. God did not want Noah to go through this. Nor did he put Noah through this. But God WILL be glorified through this. He WILL work this for HIS good. I want to pray audaciously. I want to pray for healing. I want to pray for zero pain for Noah. I want to pray for this all to be over. But, I sense that it's not. I sense it's just beginning. And that we most likely have a long road ahead of us. And that's ok. God will sustain Noah as he's sustained me. God will continue to bring his presence into our family and will continue to work through the situation. If you feel called to pray audaciously, please do. Please pray for peace, wisdom, clarity and healing. Pray that God's beauty will shine through. Pray for sweet Noah. Thank you so much.
