We were given so much information during our two days in Portland that I am finding it difficult to summarize it briefly and logically, but I will try. The most brief summary is that we learned that Oliver's condition is more complicated than previously understood, but that he is doing very well in spite of it and we were generally encouraged from what we learned from the three scans and five doctors we saw.
The more detailed summary that follows does not include all the information that we were given, but it highlights the most important things we learned and focuses on the short-term plan for Oliver's care. Also, we won't have the information from several of the scans and all the bloodwork until the doctors have looked at them all.
The cardiologist again confirmed Oliver's WPW arrhythmia (the extra electrical pathway that causes super fast heart rates) and cardiomyopathy (the thickened and enlarged ventricles) with an EKG and echcardiogram (ultrasound on the heart). He also saw some previously undetected conditions in Oliver's heart and lungs. The equipment at the cardiologist's office is more specialized and higher definition than what we have in Medford. The ultrasound showed myofiber dissaray, a condition where the fibers in the myocardium (the heart muscle) did not develop in a proper parallel pattern. It also showed that Oliver has mild pulmonary hypertension (high blood pressure in the arteries in the lungs). The third and most important finding is that Oliver has left ventricular noncompaction (LVNC). When a baby's heart is just forming the tissue is spongy to allow lots of blood to flow in and around the muscle fibers as they develop. LVNC happens when, the heart muscle does not compact together to form a solid mass and instead remains spongy. From what I've read, noncompation cardiomyopathy has only been identified since the mid 1980's so it is a pretty newly identified condition, meaning that there is relatively not a lot of information about it (compared to a condition like high blood pressure). While we are not happy that Oliver has LVNC, we are glad that they identified it because it is probably the root cause of the other problems with his heart and lungs. Thankfully, in spite of having all these issues, Oliver's heart is sill functioning well. The current plan for monitoring his heart is to do regular echocardiograms and Holter studies (like a 24 hour EKG) several times a year, and to pray for his heart to heal.
We also met with a pediatric surgeon about getting a g-tube (gastric-tube, a feeding tube that plugs directly into his stomach) for Oliver to replace his ng-tube (nasal-gastric-tube, his current feeding tube through his nose). This is an elective surgery, meaning it is low priority and not vital to his health, but would simplify our lives (he couldn't sneeze his feeding tube out at 3am anymore) and be a bit easier on him too (no tape/tube irritating his cheeks, nose, and throat). If we get clearance from his cardiologist we'll aim to have the surgery done on Aug. 9th, but if the cardiologist has any reservation then we'll wait.
Our last formal appointment on Friday was with a geneticist. Overall she was thrilled with Oliver's development, especially at how alert and social he can be - that was very encouraging to us. She identified three possible families of syndromes that would explain some or all of Oliver's condition and we are testing for all of them. We appreciate their approach to test more aggressively with babies because the information will be useful to all of his doctors as they decide how to treat him. The geneticist's expectation follows Occam's razor (the simplest explanation is the most likely) and is that there is one single genetic mutation that is causing Oliver's multiple conditions, and not a different gene mutation for each one. Following this logic, Oliver most likely has a yet-to-be-formally-identified-and-named syndrome that is being talked about in the scientific literature that presents with both noncompaction cardiomyopathy and displastic kidneys, Oliver's two biggest conditions. So, there's no way to test for this "new" syndrome, but the results from the other two families of syndromes (the full Noonan panel and cardiomyopathy panel, about 20 genes total) will come in about two months.
Finally, and possibly the most shocking part of our trip, was our stop at the lab for bloodwork. By the end of the day Oliver had orders from four doctors for lab work, and needed to have 12 mL of blood drawn. You may remember that Oliver does not give up his blood easily, and getting 0.4 mL out of him every week takes several hours and is a terrible pain, no pun intented. The OHSU phlebotomists took about 90 seconds to get 12mL. NINETY SECONDS!!!!!!!!!!!! For TWELVE mL!!!!!!!!!!!!! I knew that they are highly practiced specialists, but I was and still am awestruck. And now that I know it can be done I will have no reservation in being a stronger advocate for him in the lab room.
We have an appointment with nephrology (kidney and hypertension) on Aug. 7th and then we'll hear the results of the scans on his kidneys and learn how his blood pressure has been doing.
Sorry, no photos tonight, but check back soon!
The more detailed summary that follows does not include all the information that we were given, but it highlights the most important things we learned and focuses on the short-term plan for Oliver's care. Also, we won't have the information from several of the scans and all the bloodwork until the doctors have looked at them all.
The cardiologist again confirmed Oliver's WPW arrhythmia (the extra electrical pathway that causes super fast heart rates) and cardiomyopathy (the thickened and enlarged ventricles) with an EKG and echcardiogram (ultrasound on the heart). He also saw some previously undetected conditions in Oliver's heart and lungs. The equipment at the cardiologist's office is more specialized and higher definition than what we have in Medford. The ultrasound showed myofiber dissaray, a condition where the fibers in the myocardium (the heart muscle) did not develop in a proper parallel pattern. It also showed that Oliver has mild pulmonary hypertension (high blood pressure in the arteries in the lungs). The third and most important finding is that Oliver has left ventricular noncompaction (LVNC). When a baby's heart is just forming the tissue is spongy to allow lots of blood to flow in and around the muscle fibers as they develop. LVNC happens when, the heart muscle does not compact together to form a solid mass and instead remains spongy. From what I've read, noncompation cardiomyopathy has only been identified since the mid 1980's so it is a pretty newly identified condition, meaning that there is relatively not a lot of information about it (compared to a condition like high blood pressure). While we are not happy that Oliver has LVNC, we are glad that they identified it because it is probably the root cause of the other problems with his heart and lungs. Thankfully, in spite of having all these issues, Oliver's heart is sill functioning well. The current plan for monitoring his heart is to do regular echocardiograms and Holter studies (like a 24 hour EKG) several times a year, and to pray for his heart to heal.
We also met with a pediatric surgeon about getting a g-tube (gastric-tube, a feeding tube that plugs directly into his stomach) for Oliver to replace his ng-tube (nasal-gastric-tube, his current feeding tube through his nose). This is an elective surgery, meaning it is low priority and not vital to his health, but would simplify our lives (he couldn't sneeze his feeding tube out at 3am anymore) and be a bit easier on him too (no tape/tube irritating his cheeks, nose, and throat). If we get clearance from his cardiologist we'll aim to have the surgery done on Aug. 9th, but if the cardiologist has any reservation then we'll wait.
Our last formal appointment on Friday was with a geneticist. Overall she was thrilled with Oliver's development, especially at how alert and social he can be - that was very encouraging to us. She identified three possible families of syndromes that would explain some or all of Oliver's condition and we are testing for all of them. We appreciate their approach to test more aggressively with babies because the information will be useful to all of his doctors as they decide how to treat him. The geneticist's expectation follows Occam's razor (the simplest explanation is the most likely) and is that there is one single genetic mutation that is causing Oliver's multiple conditions, and not a different gene mutation for each one. Following this logic, Oliver most likely has a yet-to-be-formally-identified-and-named syndrome that is being talked about in the scientific literature that presents with both noncompaction cardiomyopathy and displastic kidneys, Oliver's two biggest conditions. So, there's no way to test for this "new" syndrome, but the results from the other two families of syndromes (the full Noonan panel and cardiomyopathy panel, about 20 genes total) will come in about two months.
Finally, and possibly the most shocking part of our trip, was our stop at the lab for bloodwork. By the end of the day Oliver had orders from four doctors for lab work, and needed to have 12 mL of blood drawn. You may remember that Oliver does not give up his blood easily, and getting 0.4 mL out of him every week takes several hours and is a terrible pain, no pun intented. The OHSU phlebotomists took about 90 seconds to get 12mL. NINETY SECONDS!!!!!!!!!!!! For TWELVE mL!!!!!!!!!!!!! I knew that they are highly practiced specialists, but I was and still am awestruck. And now that I know it can be done I will have no reservation in being a stronger advocate for him in the lab room.
We have an appointment with nephrology (kidney and hypertension) on Aug. 7th and then we'll hear the results of the scans on his kidneys and learn how his blood pressure has been doing.
Sorry, no photos tonight, but check back soon!
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