First Meeting with the Cardiomyopathy Group

Noah had his first appointment with the Cardiomyopathy group at Children's Hospital last Thursday. It's taken me a full week to process all of the information that we received. It was a very intense visit. But very good! I really like Dr. Towbin and his whole team.

We arrived at 7:15am. (Thank you to Aunt Lynne! She came to our house super bright and early to hang out with Alex!) Noah had an EKG, height and weight. We talked with a nurse for a few minutes and then a genetic counselor came in. She spent about 20 or 30 minutes with us. She explained more about how the genetics work in relation to this disease. Then she drew my entire family tree. We talked through 4 generations of my family on each side. She then left to meet with the team. We waited for about 20 minutes while she did that.

Then, Dr. Towbin, a genetic Cardiologist (I can't remember her name!), the genetic counselor, and the Clinic Manager all came in the room. Dr. Towbin pulled a chair up right in front of Grant and I. He sat there and talked to us for the next hour. Then the genetic doctor talked for about 20 minutes. Then we asked a few questions. They listened to Noah's heart (while he snored away in Grant's arms!) and then we were done. It was very heavy on the informative side. They already had a ton of information from all of the testing that Noah's gone through this summer, so it was a meeting to get all of us on the same page.

So....here's where we stand. Noah is classified as having a mild-moderate case of hypertropic cardiomyopathy (HCM). He will see Dr. Towbin every six months. He will have an echo and EKG at every appointment. At one appointment every year he will wear a holter monitor for 24 hours. At the other appointment during the year he will do a treadmill test--when he's old enough to do that. He will need to be on his beta blocker indefinitely. He is not allowed to play competitive sports. He is not allowed to have decongestants, caffeine or other stimulants. And we watch and we wait.

Now, for some background on the disease. When Dr. Towbin first started focusing on the disease back in the 80's, the morbidity rate was 6% every year. So 6% of the patients who had HCM would die every year. So, within about 15 years all of the patients you started with would be dead. Fun times. Just what every mother wants to hear. Well---GOOD news. That study was flawed. It was based on the center where all of the worst cases were sent. A more accurate, current figure is .1% per year. It's still higher than the morbidity rate for the total population, but it's MUCH better than 6%. Of course, a slight problem is that the study is based off of the people known to have the disease. Usually, the first symptom is death. I'm just grateful we know. Anyway, with that 6% figure in his mind, Dr. Towbin treated his patients very aggresively. He used to have a personal rule that he would not leave a patient's room until every person in there was crying. He wanted people to understand the severity of the disease and the importance of following his advice. Over the years he has developed a standard of care. His patients follow his standard. There's really not a lot of room for deviation. You are on beta blockers. You do not do competitive sports. You don't take stimulants, caffeine, etc. You come in for the necessary tests at necessary intervals. Under his standard of care, the morbidity rate at Children's for HCM patients is very close to 0%. Now THAT's what this mama wants to hear! Oh, and guess what. Guess which hospital is the best for this disease and gets sent all of the worst cases? Cincinnati Children's Hospital.

As far as the genetics go, here's a brief recap: Every person has two copies of tropomyosin in their DNA. One from their father and one from their mother. One of my copies is flawed. When I have a child, I pass down one of my copies. Either the perfect one or the flawed one. So my kids have a 50% chance of having the genetic mutation. If Alex ends up being fine. His future children are also fine. If, let's say, I got the flawed copy from my mom, we would test her brother and sister. If her sister is fine, then there is no need to test her daughters or her daughter's children or future grandchildren. They would be in the clear. Now, if someone DOES have the mutation it does not mean that they will develop the disease. It means that they have the possibility/ability/likelihood to develop it. And it does not mean that they will have it to the same degree of severity that I do or that Noah does. So, if a family member comes back with a positive genetic test, they will have to undergo some cardiac testing and most likely be monitored on a periodic basis.

We learned alot about how the heart operates. We learned alot about how it operates differently with HCM. We learned about different complications that could occur. It was all good to know and difficult to hear. I'm not going to go into it all. Because, well for one, it's kindof a blur. I think I blocked some of it. For two, none of it has happened yet. And here's hoping it stays that way.

So, to finish, we really like the group we will be seeing. (I am transfering my care back to Children's with a Dr. Jeffries who is duel certified in peds and adults.) We are waiting to find out when our next appointments are. And until then, we watch, wait and pray.

A Note From Daddy

Grant had to start back to work today. I woke up to a note pulled up on the computer with 10 reasons why he's thankful for each of me and the boys. Alex and Noah, here are some of the reasons Daddy loves you today!

Noah

1. How your body kind of jiggles when you run.
2. How you use an elephant noise for every animal
3. Your growing obsession with the lawn mower! J
4. How cute you are!
5. How your feet are stinky when you wear your sandals…impressive!
6. How smart you are!
7. Destruct-a-baby
8. Your crazy face during dinner.
9. Singing “Glory to God”
10. Your tooth brushing obsession
11. How you clean up all of our shoes

Alex

1. How smart you are

2. How you sing to God

3. Crazy naked running before tubby

4. Lawnmower obsession

5. Crankiness when you wake up…definitely your mother’s child!

6. Writing your name and other letters

7. Snuggie-time

8. Building towers in the basement

9. How you build things at Home Depot

10. How you pick flowers for your mom whenever you are outside

Proud Mom Moment

Alex tried to write his own name today :) He's been writing "letters" for awhile now. An O, or an A, or a T (He calls it a cross), or an H. Today he was drawing and said to me excitedly, "I write my own name!" And sure enough, he almost did! It looked something like this:

X t A l

I prompted him to write an E, and then it looked like this:

X t A l

E

Alex. All the letters are there...with a cross thrown in for good measure. I'm so proud of my boy! He is just learning and growing by leaps and bounds. I haven't taught him how to write an E or an X. He just did it. He amazes me. I love you XtAlE :)

Good news

We found out some good news today. The genetic testing that I did back in June came back positive. They were able to isolate the genetic mutation that I have. (It's a protein called Tropomyosin.) This is really good news. Right now medical science has only found about half of the genetic mutations for cardiomyopathy. So it was about 50/50 if they would be able to locate mine. Thankfully, they did. Now we can go about systematically testing the family to see if anyone else has the gene. The first step is to do Alex and Noah, my three nephews and my parents. The scary thing is that if you have the gene, you have a 50/50 chance of passing it on. So chances are that there are others in my family who have the disease without knowing it. We're testing the boys to make sure that no one other than Noah has it. We're testing my parents to see if we can determine which side of the family it came from. If, for example, it came from my mom's side, then we would test her brother and sister, and then if any of those came back positive, then their kids and so on. So we could potentially be testing a LOT of people. The awesome part is that everyone will have a definitive "YES" or "NO." They will know how closely they need to be monitored and if they have to monitor their kids, or if they can breathe easy. Which is huge. Hypertrophic Cardiomyopathy is a scary disease. It's the number one killer of young athletes. You can look totally normal, act totally normal, and one day, just fall over in cardiac arrest. (What happened to me.) So KNOWING is HUGE.

So, all of you prayer warriors out there...I need you to pray again. God has totally been one step ahead of us in this whole process. We prayed for clarity...and this situation gets clearer every time we see or talk to a doctor. Now we need to pray that this disease is NOT present in the rest of my extended family. God is bigger than statistics. So what if, statistically, at least one of my nephews, an aunt or an uncle, and several cousins SHOULD have this disease?? Let's pray for "NOs" across the board. Let's pray that only Noah and I have the gene. Let's pray for God to show up (again) big time. He keeps blowing us out of the water. He keeps proving time and time again that He is here, He's listening, and He loves us. This time it was in the form of a positive genetic test--we have more clarity and the ability to gain even more clarity on who is affected. Now we need God to show up and give us negative tests.

Thank you for your prayers and your love!

By the way--Noah goes this Thursday back to Children's for an appointment with the cardiomyopathy group. He'll see a geneticist, Dr. Tobin (one of the heads of the whole department) and an elecrophysiologist. Hopefully we'll find out more about Noah's status then and I'll have more updates!

Flying Under the Radar?

Grant and I are currently taking a class at church to become Small Group Leaders. The class has been great so far. Last Tuesday night the focus was on prayer and leading a time of ministry in a small group. The group taking the class spent some time in ministry. We sang two songs and then spent some quiet time just listening for God. To be perfectly honest, I wasn't in the "moment." I was tired and just not really feeling it. I even prayed "God--just let me fly under the radar. I'll be here and be happy to pray for someone else, but let me just fly under the radar." Yep--that was me. When the group leader asked if anyone heard anything a few people shared. Then Dustin, a good friend, looked at me and said something to the effect of:

"Sarah, you were on my mind the whole way through the singing. I kept thinking it was just me doing it, but it just kept coming back. And--it's going to be ok."

Way to fly under the radar, huh? I became the only person called out by name. I guess God wanted my attention. Well, He had it. I immediately began to cry. We finished sharing and broke up into groups to pray. The women in the group gathered around me. They all actually knew most of what was going on with Noah. I told them that I was actually doing okay with Noah's heart issues. I was trusting God and in a pretty good place. I felt that God speaking through Dustin was almost a confirmation that God was still with us and that "it's going to be ok." I also shared that my heart had changed, but that I didn't really know much about it, as my focus has been Noah. The ladies felt that they could pray for MY heart. Huh. Didn't see that one coming. See, I don't like to ask for prayer for my heart. Call it pride, call it shame, call it fear...I don't fully know what it is. I think at the root of it, I don't mind my heart condition. Truly. It can be a pain in the rear at times, for sure, but ultimately, every time something happens with my heart God is glorified. So is it even RIGHT to ask for healing?? And, if I even were to be healed, what would change? I would still have a defibrillator as a safety measure. I already live a relatively "normal" life. I don't know what it is, but it's an issue I have had and I'm working on it. Apparently, God wanted to speed up the process.

My good friend, Jo, placed her hand on my heart and they began to pray for me. I felt tingly all over my body and a few shooting pains in my heart. They finished praying and I shared what I had felt. The group leader, Laurie, took over at that point and began to pray again. I had more of the shooting pains in my heart. Then my entire body started to burn up. I got very, very hot. To the point that I began to sweat. Everywhere. When Laurie finished praying, she shared that she was very hot and sweaty as well. Meanwhile, the other ladies were cold. (I actually had a sweater on at the time--yes, in August, because the room was so cold.) Jo shared with me that my chest, under her hand, was really hot the whole time during the prayer.

So...what does that all mean??? I know for sure that it means God was present in that room, at that time, in my body. I know for sure that God wanted me to feel His presence and power. I don't know if He healed my heart. I don't really care if He healed my heart. Because healed or not, He'll be there every step of the way. Taking me out of my comfort zone. Letting me know in no uncertain terms when it's not my turn to fly under the radar.