Busy, Busy Bexley

Bex has had a busy two weeks. I actually said to Chris today as we walked into the pediatrician’s office that I am a little burnt out of doctor’s appointments, ha. Hopefully, once we hit mid-August, our doctor’s visits won’t be quite as frequent.  Here’s an update on what is going on with Bexley:

 

Pediatrician: All has been going well with those appointments with the exception of one minor hiccup last week. I tend to worry about everything under the sun when we go to those appointments: blood pressure too high, high glucose level, gastrointestinal bleeding, too much weight gain, infections, etc. The good news is that all those things have looked great!! Last week, they combined her 9-month check-up with our weekly visits. When they measured her length (height), she had not grown at all. She was 27 inches at 6 months and 27 inches at 9 months. While with many kids, parents might be told “maybe we measured wrong (that actually happened to us at her 2 month check-up) or everything else is going okay, so we’ll only worry if there is still no growth at 12 months.” However, with Bex everything is a red flag or a cause for follow-up, so the pediatrician had to consult with neurology and genetics.  Neurology and genetics had no real answers at this point. It could be that the ACTH did possibly impact her growth or there could be something else going on.  We will have to take her in for a “height check” at that end of August to see if she is started growing again once she is done with the ACTH. While Chris and I were pretty frustrated last week that we have one other thing to worry about, we have decided this week to not borrow trouble at this point and not waste time worrying about this until we have more information. 

Physical Therapy: Our therapist is great! While Bex was not the most willing participant this week, the physical therapist reminded me that it is actually a good thing. It means that Bex has an opinion about what she likes and dislikes, which is very age appropriate! As Chris and I had been suspecting for awhile, Bex has slight torticollis, which is a tightening of the muscles on the right side of her neck that cause her to hugely favor looking to the left. This has actually nothing to do with her IS. It is either the result of her positioning in the womb or could have happened during delivery. The therapist has been giving us lots of ideas for helping her to actively stretch those muscles. I have found it so helpful to have someone coming in every week giving me guidance and support about what I need to be doing to help Bex work on improving her gross motor skills.  

EEG Follow-up: The neurologist recommended a follow-up EEG before our appointment on August 12^th.  We had the same tech perform the EEG this time and she was wonderful.  While we have not officially received the results from the neurology, the tech’s opinion was that her EEG looked good and she was not seeing any signs of hypsarrhythmia.  Hopefully, the neurologist will have the same report in two weeks.  

As of Tuesday, we continued giving Bex the lowest dosage of ACTH, but we started every other day shots. This morning was the first morning in 7 weeks that we did not have to give her an injection, which actually felt kind of weird, since it has become such a part of our morning routine.  Bex has 3 shots left to go and will finish up her last one on Monday.  Her poor little thighs look like pin cushions, but she continues to be such a little trooper.  She is still not 100% herself, but about a week ago, her personality slowly started coming back. Chris and I are so thankful that her smiles and giggles are becoming more frequent because they are the absolute best medicine!!

No Answers Can be a Good Thing Sometimes......

Today, Chris and I had the follow-up meeting with the genetics doctor to review the results of all the bloodwork that was taken when Bex was in the hospital.  The bloodwork was taken to determine if they could find an underlying genetic disorder that is the cause of the infantile spasms.  The good news is that the initial genetic screening done came back negative.  To be honest, I am not sure all the disorders that they were looking for and ruled out, but the doctor mentioned that some of the disorders ruled out were "pretty heavy duty."

So what's next for Bex? We have our follow-up appointment with the neurologist on August 12th. At that time, she will have blood drawn for an Epilepsy Panel. This test will look for genetic mutations that are typically associated with epilepsy and other seizure disorders.  Those results will take a few months to get back. 

Chris and I are learning that when it comes to meetings with a genetics doctor, you are never really "out of the woods" and it is a long, slow process. Since there are thousands of rare genetic disorders, there is no way to test for everything at once. Instead, it is a slow process of ruling out disorders and also watching her develop to see if there are any additional clues that could help them narrow down the disorders to make a diagnosis. We are typically the type of people that want answers, but when it comes to all these genetic tests, we actually don't want them to find an answer about what has caused her to experience infantile spasms.

After every doctor's appointment that we have, Chris and I always discuss what the doctor said and then also figure out a new game plan going forward because looking at the big picture or thinking too long term can be overwhelming at times. Therefore, for right now, our focus continues to be finishing up the ACTH without any relapse in spasms. We are also looking forward to the end of ACTH side effects, so we get our Bex back and focus our energy on helping her make progress in physical therapy. We both know there are still a lot of unknowns ahead of us, but we are truly thankful that we walked out of that appointment today without an answer about what caused her infantile spasms. 

Show Your Support for Team Bex!

When we went through everything after Bex’s birth for the brain abnormality, my mom, Sharon Rios (shout out!) originally stated, “No matter what is in the future for Bex, it will always be Team Bex.” Over the last 8 and a half going on 9 months, she often reminded me that even if Bex were to face challenges, she was blessed to be surrounded by parents, grandparents, aunts, uncles, and great-grandparents, who would all be on her side cheering her on no matter what.  When Bex was diagnosed with IS, she thought of the idea to create t-shirts for people to show their support for Team Bex. She also surprised us by having bracelets made as well!  Regarding the shirts, Bex’s Aunt Calli (another shout out!) found a friend that could have them made cheaply and came up with the idea to sell them and donate the profit to research for IS.

As Lindsey mentioned in her previous blog, one of the hardest things about having a child diagnosed with a rare condition is that there is not a huge parent support network to rely on for support and reassurance. In addition to that, there is also a lack of awareness about your child’s condition, which in turn means, that not a lot of money goes toward research. We have had T-shirts and bracelets made to serve two purposes 1) spread awareness about IS and 2) raise a little money to help go toward IS research. We were fortunate to have Bex diagnosed quickly, so she could begin treatment within a week of the spasms starting. We have read so many stories of parents that have had to fight to get their child into a neurologist or the child’s spasms go on for months without anyone correctly identifying what is going on. The longer the spasms go on for the more detrimental it is to their development. Our hope is that if people see you wearing a bracelet or t-shirt in honor of Team Bex, they might ask you more about it and you can share a little bit about Bex’s story as well as what Infantile Spasms are. This will help create awareness amongst parents, grandparents, siblings, friends, aunts, uncles, etc. And who knows, maybe it will help one baby get diagnosed a little bit sooner.  This will also allow us to make a donation in Bex’s name to go toward IS research to make sure that research and awareness continues.

So would you like to officially join Team Bex? Email either myself (rios.chris@gmail.com) or Lindsey (Lindsey.rios@gmail.com) to let us know you would like a shirt and bracelet as well as your size (Small, Medium, Large, or XL). Then we will send you our address, so you can mail us your payment. We are asking $12 for the shirt and bracelet. We plan on donating $10 to IS research and the other $2 will help us cover the cost of shipping expenses to get the items to you.  

Below you will find a picture of the shirts as well as the bracelets. The shirts will be dark gray. Purple is the color associated with awareness of epileptic conditions, so that is why we chose that color for the font and the bracelets.  There is no pressure to purchase/donate for this cause, but if you do we truly appreciate it.

Vacation and Back to Reality

Bex was given permission to make her first trip to the beach, so we spent the week after the 4th of the July in Emerald Isle, North Carolina. While Bex didn't really enjoy many typical beach activities, she did love stroller rides on the beach as well as naps by the pool. She also had quality time with her aunts and grandparents.

Loving walks on the beach!

After a vacation well spent, this week we have quickly gotten back to reality. She had her weekly check-up with the pediatrician. Her blood pressure continues to be within the average range. Despite her insatiable appetite, her weight has been holding steady and she is not showing any signs of infection. Her latest blood work results did show elevated glucose levels. This could just be a side effect of the steroids, but we are following up with neurology tomorrow for more clarification and will continue to monitor these levels closely. 

At one point, Chris and I were cautiously optimistic that the side effects might be diminishing with the decreased dosage of ACTH. However, over the last two weeks, her appetite has really increased again, she seems to be increasingly cranky, and she is not sleeping well. It was actually refreshing to have the pediatrician I saw yesterday (our normal doctor is out of town) ask me if I was keeping my sanity before I even provided an update on how Bex is doing. He acknowledged how difficult and exhausting the constant hunger, fussiness, and lack of sleep can be on the family while the baby is on ACTH. I feel like there are many times that Chris and I have looked at each other recently wondering "Is this normal?", "Do other babies act this way on ACTH?", or "What happened to our Bex?" The appointment yesterday left me feeling that our experience is "normal" and hopefully, in a few more weeks, we will have our Bex back again. It has also motivated us to find a way to be a resource for other parents that may walk down this path in the future.  There are so many times that I wish there was another mom that I could pick up the phone to call to be reassured that their baby also wanted to eat all the time, stopped liking activities that they enjoyed pre-ACTH, and that once their baby finished the ACTH the side effects started disappearing.  However, when only 1 in every 3,000 kids will be affected by IS, there isn't a huge support network of parents readily available.

Bex also started Physical Therapy this morning. Obviously, since her mood is not ideal these days and she is not overly interested in playing, it was hard to get her to engage in many activities. The therapist was very understanding. She provided us with some ideas of small things we can start integrating into her daily routines and ideas of activities to try when Bex is in a good mood and wants to play. Chris and I are excited to have some new things to work on with Bex. We plan to capitalize on those moments when she is in a good mood because we are maintaining the perspective that every little bit helps!  After all, Rome wasn't build in a day.

As of right now, her last ACTH injection is scheduled for August 4th. Between now and then, River and I will be taking lots of walks to the park with Bex, since her stroller always seems to make her happy. Chris and I have also agreed "lights out" by 8:30 most nights, so we can make sure to get as much sleep as possible!  We are basically in survival mode until the shots are done and life will start to normalize again...hopefully!

I know this is a long update, but this is what happens when you take a 2 week break from blogging.  

If you can't tell her foot is in there...that's about as far as she'd go!

Pool side naps with Aunt Calli

EEG Results are In.....Clarified.

After emailing our neurologist and also leaving a voicemail in the morning, I finally got a call back early this afternoon.  It was actually refreshing to speak to the doctor and hear his take of the EEG reading…and it was good!

He explained that the focal abnormalities noted in the reading were non-specific and did not indicate epileptic activity.  So to sum it up in non-medical speak – those abnormalities could mean something in the future…or mean absolutely nothing.  His overall assessment of the EEG was that the hypsarrhythmia was resolved and everything looked good.  He was pleased with the results and we should be too.

I was pretty happy to hear these words from him because he is very direct and straight forward.  If there was something to be concerned about, he would lay it out there.  That is not to say that those abnormalities couldn’t eventually lead to an epileptic disorder, which is a possibility.  However, as of today, there isn’t a reason to stress or worry over the possibilities of future seizures or epileptic disorders.  In his words, we should be very happy with these results and enjoy the fact that the EEG reading has improved from the last time.  So we plan to take his advice!

Today was a good day.  Let me be perfectly honest in saying we are not delusional by any means.  We understand we still have a long road ahead of us.  All I know is we feel 100 times better today than we did yesterday and we should be able to enjoy this feeling.  Tomorrow we will focus again on staying the course – continuing to treat the spasms, then the follow up genetic counselor appointment, the next neurology appointment, and then who knows.  So we’ll stay the course and give our baby girl a big kiss every day.