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.
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