Monday, November 24, 2014

An Update From Team Bex

Bex is 13 months old today, which made Chris and I realize that it has been a month since we lasted posted an update on Bex.  Here is an update about what has been going on for Team Bex over the last month:

12-Month Well Baby Visit: After everything we have been through with Bex, Chris and I even dread the standard Well Baby check-ups. When they put her on the scale and she had only gained a few ounces since her 9-month check-up, my immediate reaction was to panic about what red flags this would send up. She did grow in height and head circumference, so those were all positives.  Surprisingly, the pediatrician was not too concerned about her lack of weight gain. Bex did gain a decent amount of weight on ACTH (2 pounds in the first week), so it seems that her body is just starting to balance back out and her weight is back into the “pre-ACTH” percentile. While Bex is showing a lot of signs that she is starting to cut teeth, she does not have any teeth yet. Since she is one and does not have teeth, we have to make an appointment with a pediatric dentist for her to get x-rays to make sure there are baby teeth under the gums. Chris and I have often speculated that ACTH may have stalled or delayed the teething process for her, but it has been recommended that we see a dentist to make sure that is the case and to confirm there is not something else going on.  

Genetics: As you may remember, the results to the Genetic Epilepsy Panel came back with one gene that had a variant of unknown significance.  Since genetics is such a new and evolving field, it can be confusing at times. Our best understanding is that a variant of unknown significance is different from the norm; however, at this point, genetics does not have an understanding about what that variant means. As research progresses, it could be determined that this variant means absolutely nothing or additional research could help provide insight into what this variant means about prognosis. Anyways, genetics had required Bex to have an additional urine test done due to the variant. We got those results last week and they all came back within the normal range. Yay! Thankfully, there are no additional tests that they want to run at this point. We will follow-up with genetics again in May to discuss Bex’s development and determine where we go from there. 

NC Epilepsy Foundation: Last Tuesday, Chris, Bexley, and I met with the Chair of the NC Epilepsy Foundation, Pat Gibson. This was the Foundation where we donated the funds from our Team Bex fundraiser. Pat Gibson participated in some of the first IS Conferences back in the 80s.  This was the first time that Chris and I actually had the chance to sit down and talk with someone who is knowledgeable about IS as well as compassionate to some of the challenges that we faced at diagnosis and continue to face with Bexley moving forward. It was a really great meeting.  We are excited about some of the things they plan to do with the money we donated and we hope to stay involved in helping to raise awareness and provide support to other newly diagnosed families. She is also hopefully going to try to hook us up with some families in the area, who are facing similar situations.  We are keeping our fingers crossed that this will work out because it would be nice to develop a support network of families who understand what it is like to juggle doctor’s appointments, remember to fit therapy into your daily routines as much as possible, and live with some of the unknowns about the future. 
As long as we don’t have any unforeseen circumstances pop up, we should have a break from doctor’s appointments until February. Hopefully, that will be the case because Chris and I always like it best when we can stay in our “Bex Bubble” without any doctor’s bursting it.

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