My lack of blog posts definitely indicates a couple things. One, Audrey is thriving and doing very well. Two, we are crazy tired with my work being really busy, school starting back up, and Audrey's sleep patterns that I don't get around to writing on here.
We had a couple of appointments for Audrey last week. She had her 2 month Pediatric appointment which included her getting vaccine shots. She was not happy about those and seemed uncomfortable and inconsolable the remainder of the day. Outside of those shots, the appointment went well and her Pediatrician said that she was doing awesome. She weighed in right around 10lbs and was measuring at about 20% on the height and weight scale for her 10 week age. At her previous appointment she was tiny on the preemie scale and now was 20% on the normal newborn scale. Amanda has made a point of trying to rotate and see each of the doctors in the practice at each visit so that they all get familiar with Audrey and Long QT. She left feeling better after this visit that this Pediatrician seemed very familiar with the condition already and didn't require quite as many condition details.
We followed up the Pediatrician appointment with her EP Cardiology visit on Thursday. We got to sit down to discuss Audrey's DNA test results in more detail. They had given us the overall summary results over the phone but we now had the chance to talk about the details. There was only one well documented write-up on a case with the same gene mutation and condition to refer to. There are other cases but they were just not documented. Based on the DNA results they are almost certain that Audrey is an isolated case and did not have this condition passed from Amanda or myself. Amanda has already been tested for the full spectrum of known possible mutations and did not have any of them. To be positive the next step is to test me only for the same gene that Audrey's condition tested positive for. There is no reason to test the full spectrum now that we know the precise gene to look at. I should get those results back in 3-4 weeks. Based on all of the DNA testing information and the ekg's, they do not suspect either Avery or Ryan of having any form of Long QT which is a huge relief.
After discussing her DNA results they downloaded all of Audrey's heart rhythm information for the past month from her pacer. Last month when we were there the pacer was triggering about half of the time and they reduced the low end of the settings from 120 bpm down to 100 bpm. Her pacemaker had only triggered .2% of the time this month, less than 1% of the time. Along with that there were no signs of any blips of tachycardic beats at any point during the month. We were extremely relieved and the doctors were really felt that the Mexiletine was working greatly for Audrey. Her QT interval had shorted from the initial high 600 milliseconds range down to now being consistently around 460 millseconds which is truly incredible. Our EP repeated that we really are so lucky to have found and treated Audrey's condition when we did. Otherwise her outcome most likely would have been a bad one. Here we are and they predict Audrey to have a really good outlook at this point and even said that with her Type 3 that she can most likely live an active life also. They modified both her Beta blockers and Mexiletine dosages slightly and said that although we will not stop taking the beta blockers completely that we will back off the amount somewhat as she grows into it. The Mexiletine is the medicine that they attribute the most success to. We don't go back to see them for 3 months and at that time they will be changing the dosage from every 6 hours to every 8 hours. Huge! I cannot wait for that. That will allow us to get into a little more normal sleep again so that is something great to look forward to in November.
Avery and Ryan are still loving having Audrey around and want to hold her as much as possible. Audrey goes everywhere with the family and is a trooper. We got the writeup that CHOA did on Audrey's story although we aren't quite sure exactly how they will be using it. They mentioned possibly on their website or some documentation. I will post it here soon.
...Audrey with her giraffe Sophie.
...on our new backyard rock.
We had a couple of appointments for Audrey last week. She had her 2 month Pediatric appointment which included her getting vaccine shots. She was not happy about those and seemed uncomfortable and inconsolable the remainder of the day. Outside of those shots, the appointment went well and her Pediatrician said that she was doing awesome. She weighed in right around 10lbs and was measuring at about 20% on the height and weight scale for her 10 week age. At her previous appointment she was tiny on the preemie scale and now was 20% on the normal newborn scale. Amanda has made a point of trying to rotate and see each of the doctors in the practice at each visit so that they all get familiar with Audrey and Long QT. She left feeling better after this visit that this Pediatrician seemed very familiar with the condition already and didn't require quite as many condition details.
We followed up the Pediatrician appointment with her EP Cardiology visit on Thursday. We got to sit down to discuss Audrey's DNA test results in more detail. They had given us the overall summary results over the phone but we now had the chance to talk about the details. There was only one well documented write-up on a case with the same gene mutation and condition to refer to. There are other cases but they were just not documented. Based on the DNA results they are almost certain that Audrey is an isolated case and did not have this condition passed from Amanda or myself. Amanda has already been tested for the full spectrum of known possible mutations and did not have any of them. To be positive the next step is to test me only for the same gene that Audrey's condition tested positive for. There is no reason to test the full spectrum now that we know the precise gene to look at. I should get those results back in 3-4 weeks. Based on all of the DNA testing information and the ekg's, they do not suspect either Avery or Ryan of having any form of Long QT which is a huge relief.
After discussing her DNA results they downloaded all of Audrey's heart rhythm information for the past month from her pacer. Last month when we were there the pacer was triggering about half of the time and they reduced the low end of the settings from 120 bpm down to 100 bpm. Her pacemaker had only triggered .2% of the time this month, less than 1% of the time. Along with that there were no signs of any blips of tachycardic beats at any point during the month. We were extremely relieved and the doctors were really felt that the Mexiletine was working greatly for Audrey. Her QT interval had shorted from the initial high 600 milliseconds range down to now being consistently around 460 millseconds which is truly incredible. Our EP repeated that we really are so lucky to have found and treated Audrey's condition when we did. Otherwise her outcome most likely would have been a bad one. Here we are and they predict Audrey to have a really good outlook at this point and even said that with her Type 3 that she can most likely live an active life also. They modified both her Beta blockers and Mexiletine dosages slightly and said that although we will not stop taking the beta blockers completely that we will back off the amount somewhat as she grows into it. The Mexiletine is the medicine that they attribute the most success to. We don't go back to see them for 3 months and at that time they will be changing the dosage from every 6 hours to every 8 hours. Huge! I cannot wait for that. That will allow us to get into a little more normal sleep again so that is something great to look forward to in November.
Avery and Ryan are still loving having Audrey around and want to hold her as much as possible. Audrey goes everywhere with the family and is a trooper. We got the writeup that CHOA did on Audrey's story although we aren't quite sure exactly how they will be using it. They mentioned possibly on their website or some documentation. I will post it here soon.
In the meantime here are a few pics...
...asleep.
...Audrey with her giraffe Sophie.
...on our new backyard rock.
- Mark
