Natalie Jane in her Christmas Dress and with her fist Cabbage Patch Doll on Christmas.
Natalie’s appointment was at Mayo yesterday. Our first appointment was an echocardiogram. She was supposed to be sedated, but they decided against it because of her cold. She was a very good girl and held nice and still. Matt had his echo at the same time in the next room.
Next we went to see a Geneticist. Because Matt and Isaiah also have the disease, it is obvious that it is a genetic trait. Matt’s parents and sister will be screened next. What they will try to determine is if it is a Metabolic Disorder or a Structural Protein Malformation. Metabolic disorders are a recessive gene (1 in 4 chance) while the Protein is dominant (1 out of 2). They drew some blood and wanted to collect some urine, but Natalie wouldn’t cooperate, so after an hour and a half, we decided to try next time. We will rule out metabolic disorders first, while we wait for approval from insurance to run the 11 Protein Genome tests at the Harvard Medical Lab in Boston. I will go into more detail once we know what the diagnosis is…
After that we went in to see the Cardiologist, Dr. Cabalka and her Cardiac Surgeon, Dr. Dearani. After reviewing Natalie’s echo, they informed us of some new information they gathered from this more thorough echo. Natalie’s Mitral Valve has muscle growth on it. This is not good news. Your heart valves are typical very thin and flexible, making it possible for the to allow blood flow in and out. Because Natalie’s mitral valve has growth on it, it is narrowing the passage that allows her left ventricle to fill and empty. It also has made her valve thicker, and less flexible. As a result, she has mitral regurgitation, which is backflow into her left ventricle. This also means that surgery would be very risky and difficult at this time. If they went in to remove the muscle tissue growth in her left ventricle, they would be going through her aorta, which is about the same diameter at a pen. It is hard to prevent further damage to the heart when the operating field is so small. The more difficult part is in dealing with the mitral valve. It is not repairable at it's current state and size. If they do the surgery now, they would have to replace her valve with a mechanical one. This means being on blood thinners, and eventually replacing the valve with a larger one, since mechanical valves don’t grow. Statistically, replacing valves in children under one are not good odds. The “morbidity” rate is very high and not worth the risk. If we can wait, her heart will grow, and possibly allow her mitral valve to open up a little bit. If her heart is big enough, and her valve opens up enough with growth, they may be able to save her valve. This is the best-case scenario.
In the surgeon’s words, “We are going to drag our feet.” They will come up with a plan, including symptoms that Natalie could develop, that would make the surgery worth the risk. These include evidence of more obstruction on an echo, fainting spells, failing to thrive, abnormal pressure on the lungs or right side of her heart (heart failure) or the death of a young family member with the same condition. We will be purchasing a defibulator for our home to be cautious. The good news is that her body is handling the meds well, and she has not had any episodes. This encourages the doctors that we can afford to wait. How long? No one knows. Surgery is in her future. Lets pray that we can get as much time as she needs, and that that valve would not get any worse so they can save it.
We will be returning to Mayo on March 2nd for another echo and follow up. If you google the surgeon’s name with her condition (Dearani Hypertrophic Cardiomyopathy) you will find a host of papers and research he and his colleagues have written on Natalie’s condition. We like the surgeon a lot, and we have no doubt he is the man for the job. Dr. Dearani said to us, “I am very comfortable with this surgery. We are nearing 2,000 myectomies now, and about 500 have involved the mitral valve. 150 of them have been in young children. It is very do-able.”
Blessings on all of you. Our family has been overwhelmed with your generosity.
Next we went to see a Geneticist. Because Matt and Isaiah also have the disease, it is obvious that it is a genetic trait. Matt’s parents and sister will be screened next. What they will try to determine is if it is a Metabolic Disorder or a Structural Protein Malformation. Metabolic disorders are a recessive gene (1 in 4 chance) while the Protein is dominant (1 out of 2). They drew some blood and wanted to collect some urine, but Natalie wouldn’t cooperate, so after an hour and a half, we decided to try next time. We will rule out metabolic disorders first, while we wait for approval from insurance to run the 11 Protein Genome tests at the Harvard Medical Lab in Boston. I will go into more detail once we know what the diagnosis is…
After that we went in to see the Cardiologist, Dr. Cabalka and her Cardiac Surgeon, Dr. Dearani. After reviewing Natalie’s echo, they informed us of some new information they gathered from this more thorough echo. Natalie’s Mitral Valve has muscle growth on it. This is not good news. Your heart valves are typical very thin and flexible, making it possible for the to allow blood flow in and out. Because Natalie’s mitral valve has growth on it, it is narrowing the passage that allows her left ventricle to fill and empty. It also has made her valve thicker, and less flexible. As a result, she has mitral regurgitation, which is backflow into her left ventricle. This also means that surgery would be very risky and difficult at this time. If they went in to remove the muscle tissue growth in her left ventricle, they would be going through her aorta, which is about the same diameter at a pen. It is hard to prevent further damage to the heart when the operating field is so small. The more difficult part is in dealing with the mitral valve. It is not repairable at it's current state and size. If they do the surgery now, they would have to replace her valve with a mechanical one. This means being on blood thinners, and eventually replacing the valve with a larger one, since mechanical valves don’t grow. Statistically, replacing valves in children under one are not good odds. The “morbidity” rate is very high and not worth the risk. If we can wait, her heart will grow, and possibly allow her mitral valve to open up a little bit. If her heart is big enough, and her valve opens up enough with growth, they may be able to save her valve. This is the best-case scenario.
In the surgeon’s words, “We are going to drag our feet.” They will come up with a plan, including symptoms that Natalie could develop, that would make the surgery worth the risk. These include evidence of more obstruction on an echo, fainting spells, failing to thrive, abnormal pressure on the lungs or right side of her heart (heart failure) or the death of a young family member with the same condition. We will be purchasing a defibulator for our home to be cautious. The good news is that her body is handling the meds well, and she has not had any episodes. This encourages the doctors that we can afford to wait. How long? No one knows. Surgery is in her future. Lets pray that we can get as much time as she needs, and that that valve would not get any worse so they can save it.
We will be returning to Mayo on March 2nd for another echo and follow up. If you google the surgeon’s name with her condition (Dearani Hypertrophic Cardiomyopathy) you will find a host of papers and research he and his colleagues have written on Natalie’s condition. We like the surgeon a lot, and we have no doubt he is the man for the job. Dr. Dearani said to us, “I am very comfortable with this surgery. We are nearing 2,000 myectomies now, and about 500 have involved the mitral valve. 150 of them have been in young children. It is very do-able.”
Blessings on all of you. Our family has been overwhelmed with your generosity.
