Saturday, December 6, 2014

No Zebras here!

We had a productive week with Miss Bexley.  The first order of business was a visit to the pediatric dentist.  If you remember from our last blog post, our pediatrician made the recommendation that Bex should see a dentist because she still doesn't have any teeth.  At first I was a little annoyed about this, because I figured we still had some time before we should be too concerned about the lack of teeth.  However, I can understand with Bex's history that he would refer us to someone.

Yet, as expected, the hoofbeats were horses and not zebras.  The dentist showed us Bex's gums and told us there were a bunch of teeth willing and ready to come out.  So for now we just have to continue to play the waiting game until those pearly whites make their appearance.


That was a nice win in our book and there were two more as well!  Bex has started saying "ma ma" consistently.  While she is not necessarily correlating it with Lindsey, the fact that it is moving into the babbling stage of speech is promising.  This is important because Topomax (her seizure medication) can delay speech.  So she's moving in the right direction even with the hurdle of a medication side effect to overcome!  Now I just have to bribe Bex to start saying "da da."

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The other HUGE win for Bex was that she turned over from her back to her stomach!!!  We have been waiting for her to do this consistently and she did it 5 times today!  She even did it for her Buela (grandma) on FT...so performing in front of a crowd.  It was actually a nice surprise, because she didn't necessarily have the best physical therapy session yesterday.  She was a bit of a grouch to say the least..like her daddy when he doesn't get his coffee in the morning.  We couldn't be more proud of her.  Today was one of those days where Lindsey and I felt that all of the tough PT sessions or constant hours of work throughout the day with Bex are totally worth it.

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I've said it before and I'll say it again...my baby girl will move mountains!!!

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.

Friday, October 24, 2014

Happy Birthday Bexley!!

Today, our sweet little Bexley turned one. Can you believe it? I know we are finding it hard to believe our little baby is one!

As her first birthday approached, I have spent a lot of time thinking about everything that has happened in the last year. I think most parents would agree that the first year of parenthood is tough, but with the extra challenges we have faced, this has been by far the most difficult year of my life. Bex has probably spent more time in hospitals and doctor's offices in her first year of life than I have in my entire life. I have had to hold her down while she screams to have her blood drawn more times than I can count. There have been times I have tried so hard to hold it together, but have ended up breaking down in tears listening to a doctor talk or while asking questions. I can't stand the smell of Pampers diapers because it brings back all the memories of the two weeks we spent in the hospital with her.

As hard as this year has been, it has been one of the best years of my life as well. I can't even begin to describe the amount of joy Bex brings to our lives. There are also so many things that Chris and I have to be thankful for:

- We are Parents!: It took us two years to get pregnant with Bex. Two years ago at this time, we were in the midst of fertility treatments and beginning to wonder if parenthood was even in the cards for us. We have been blessed with a beautiful, strong, and amazing little girl and we are thankful every day for her.

- Amazing Family and Friends: The support we have received from family and friends has been truly amazing! We are so fortunate to have so many wonderful people in our lives, who love and cheer for Bex. Our t-shirt sales for IS research turned out to be a bigger success than we ever imagined. We sold out of two orders of shirts and were able to make a donation of $2350 in Bexley's name to go to IS research!! She is so lucky to have so many people on Team Bex! 
 
- ACTH Worked!: The more research I have done on IS, the more stories I have come across where families struggle to find a treatment option that works. One of the scariest things about the IS diagnosis was listening to the neurologist talk about how detrimental the hypsarrhythimia is to the brain. He talked a lot about how it is almost impossible for the brain to develop with those chaotic brain waves firing constantly. We are thankful every day that ACTH worked for Bex…..and worked quickly!! 

- Small Victories: One common theme that I have read most parents talk about when watching their child face developmental challenges is that the lows are lower, but the highs are higher. This statement is so true! Chris and I get the biggest high and celebrate the smallest steps forward in her development. Whether it is saying “ba” for the first time or grabbing and chewing the church bulletin, those moments bring a smile to my face and sometimes tears to my eyes because I am so thankful that she continues to make progress!

This year has not gone as I had planned, which is hard, especially when you are a planner like I am. If someone would have told me all that was in store for us this year (the brain abnormality, missed milestones, physical therapy, and IS), I would have said I couldn’t handle any of it and wanted to give up before we even started. However, I would have missed out on all the truly wonderful things that have happened this year and all the joy that Bexley brings to our lives. So I think the biggest lesson I have learned is that no matter what happens, we will figure out a way to handle it. We have handled and faced challenges this year that I would have thought a year ago we would not be able to handle, so I know going forward we will figure out a way to take on any other challenges that may come our way. So now, when my mind starts to wander with worry or we start to get nervous about what a doctor will say, we remind ourselves of this and it helps.

Happy 1st Birthday, Bexley!! We are so blessed to be your parents!! Thank you for all the smiles and giggles that brighten all of our days!! We are so proud of all you have overcome and accomplished this year!! 


Monday, October 13, 2014

Neurologist Appointments Come and Go...


Bexley had her 2 month follow up with Neurology and it actually went well overall.  It was probably the best neurology appointment we’ve ever had regarding his assessment.  To sum up the content that was discussed on his end…

He was very happy with her social development since the last time we were there.  Right away he noted that she was very attentive to his presence and tracking everyone as we discussed her status.  As Lindsey and I went through Bex’s past several months, he was pleased with all of the progress.  He upped her dosage of Topamax, which was expected, and told us we wouldn’t have to be back for another 4 months.

Here is the part that was interesting.   He kind of surprised us by giving us the results of her genetic testing today.  The good news is that one of the urine tests that was initially run when she was a month old and always came back weird...came back completely normal this time, so we are happy about that. The Epilepsy Panel came back inconclusive at this point.  There was a variation on one of her genes, which could mean something or could mean nothing.  We had to follow up with Genetics to see what they recommended.  

Lindsey called to talk to the genetic counselor later today to get a little more clarification on these results.  The counselor explained that in order to have the disorder associated with this gene...Bex would have to have two mutations, thankfully, she has none.  However, since she does have a variance on this gene, there are additional blood and urine tests that they want to run to explore if they can figure out any more about what the variance on this gene might mean. We are going to take her in tomorrow morning to get her blood drawn (again) and give another urine sample.  Those results should be back in about 2-4 weeks.  Anyways, the genetic information is all kind of confusing, but I guess the good news is that at this point, it didn't come back with a conclusive diagnosis.

I do want to say that there was one part today that made my day.  When the neurologist explained the genetic testing, I, of course, had to ask questions regarding the variance.  As I was asking them, Bex was sitting on Lindsey’s lap next to me and reached out to me and smiled.  I bent over and let her touch my face and she smiled bigger.  This may sound impractical, but it was almost like she was trying to tell me something.  I’d like to think she wanted to say, “You don’t have to worry about this stuff, Dad.  No matter what, we will figure it out and I’ll be okay.”  I actually got a bit choked up when she was doing that.  Maybe it was nothing and just a silly thought in my head, but it was one bright spot that helped make it a better day.

Donuts with Daddy!

Thursday, October 2, 2014

One Less Thing to Worry About!!



On Tuesday, we had Bex’s appointment with the orthopedic doctor.  The doctor was very friendly and upbeat. When we started going over Bex’s history and why we were referred to see her, she actually started laughing when we explained why we had been referred to see her.  She then went on to explain that all babies have a curve in their spine until they gain control of their trunk muscles. After examining Bex, she felt there was no need to run x-rays because any curve she has in her spine is to be expected based on her current gross motor abilities. She said she would be happy to see us again in the future if we have any other concerns, but at this point, she sees no need for us to follow-up with her. 

It was a refreshing change of pace to leave a doctor’s office feeling optimistic for once! It was the first time we have left an appointment in awhile and been able to cross something off our list of worries instead of adding to it.  We plan to savor this victory until our next doctor’s appointment on October 13th with neurology.

Sunday, September 21, 2014

Play it as it lies.



A lot of people have asked how Bex has been recently, so we figured we would provide an update.  She has been doing great overall!  We have not had any doctor’s appointments over the past few weeks, so we have just been focusing on her physical therapy exercises. She has Physical Therapy every Friday and she is making strides with it. Of course, a lot of the responsibility falls on us to incorporate those exercises and strategies into our daily routines and play times.  

Before Bex was diagnosed with IS and she started Physical Therapy, Lindsey and I wanted her to achieve the developmental milestone of sitting up ASAP.  However, after the weeks piled on without her sitting up, so did our frustration.   Every day we would work with her and employ typical strategies to get her to sit up.  For example, we would put her in a boppy pillow or just hold her up in a sitting position on our legs, trying to get her to get used to it.  This often failed and led to Bex getting upset and frustrated.  We were told this is okay and babies can get mad, so keep on working hard to hit that goal.  Eyes on the prize, right?  Well, what if the prize keeps getting further out of our reach…then what?

Well, of course, we then went through IS and realized she was developmentally delayed.  During our last neurology appointment, the doctor recommended we read the book Kids Beyond Limits by Anat Baniel.  It focuses on how to get the most out of children who have developmental delays or suffer from conditions that affect the brain.  It is an amazing book and it really changed our perspective on how to reach Bex and work with her on things.  One of the chapters that spoke to us the most was the one on “Flexible Goals.”

This chapter focuses on how parents need to be able to adjust their children’s developmental goals.  It doesn’t recommend throwing away goals if you are struggling to achieve them, but making sure they are realistic.  One of the big keys to flexible goals is making sure your goals are in line with your child’s abilities right now.   She recommends parents stop judging their child’s success by standard milestones. Instead, she believes in tailoring exercises around your child’s current abilities instead of letting standard milestones dictate what you do with them each day. In the end, she believes this will be more successful for the child’s development overall.  

Today, after dealing with IS and losing basically 3 months of development (the time period of when we suspect the hypsarrethmia started combined with the duration of her ACTH treatment), we now have a better game plan for helping Bex achieve her milestones than we did back in the spring.  We are now practicing flexible goals with her. We also both realized that most of our frustration back in the spring was that the suggestions being given to us were unsuccessful because they were a) not in line with Bex’s current abilities and b) were too focused on the milestone of sitting up without focusing on the process of helping her to get there.  So for example, one reason she has trouble sitting up is because she doesn’t have enough strength in her arms yet to help push and support her in a sitting position. Instead of just throwing her in a sitting position and watching her struggle, we may lay her on her back and work on having her push her arms against my hands to help build up strength.  We also learned we needed to first focus on strengthening her neck muscles before we could expect her to support her trunk. That is one reason physical therapy is great because the physical therapist comes in with the clinical eye that Lindsey and I do not have to help us understand where Bex’s current abilities are. Building the strength up in her muscles may add extra time to hitting the ultimate goal of sitting up, but in the end it plays a critical role in her development overall.
 
These strategies have been working and we have noticed a lot of new things Bex has been doing over the past several weeks.  She is doing a better job of tucking her chin and keeping her neck in line with her body when we pull her up into a sitting position. She also has been doing a much better job of holding her head straight and forward with less and less support from us, showing that her neck and other muscles are getting stronger. She is able to play with toys while being supported by us in a sitting position for longer periods of time, which shows that she now has enough control over her neck muscles that she can reach for things while in the sitting position. All of these things may seem like small feats for an average child, especially one close to 11 months old.  However, for us they are signs that she is progressing and starting to figure things out. If we were still judging Bex's success by standard milestones, we would feel defeated because she is not sitting up independently yet. This is why Baniel emphasizes the importance of celebrating all the small steps and successes that must occur while working toward the ultimate goal. Changing our outlook on how we measure progress is important because it makes both us and Bex feel more successful!
 
I will circle back to the book and how Baniel made the comparison of a child’s development with the golf rule “Play it as it lies.”  For those of you not familiar with this rule, it means a player must hit their ball wherever it lands, no matter the spot or the obstacles around it.  She states in the book regarding this golf rule, “As it applies to Flexible Goals, it means connect with your child wherever she is right now.  Discover what your child is able to do at this moment, and seek ways to tug at the edges, thus helping your child’s brain find its own unique path of development.”

When it comes to Bex, we don’t get a club-length to move our ball to a better spot to improve our next shot.  Why that can be frustrating, it also means we learn how to improvise and tailor our swing (i.e., our Bex’s exercises).  The goal may no longer be to birdey the whole, but to save par.  In the end, the hard work will pay off.

Wednesday, September 3, 2014

"Due to Bex's History...."

We have had a temporary hiatus from blogging, since we have fortunately had a temporary hiatus from doctor's appointments. This morning we had a check-up with the pediatrician. As you remember from Bexley's 9-month check-up, she did not grow in length between 6 and 9 months of age. No one was quite able to answer if this was a side effect of ACTH or there was another underlying issue. Today's appointment was primarily for a height check, but Chris and I had a few other issues that we discussed with him. Below is a summary of the appointment:

Height: Chris and I were relieved to hear that Bex has grown an inch in the last month. I honestly would have been happy with a 1/4 of an inch of growth because that would have meant she was starting to grow again and her growth hadn't stopped.  I think we both feared what sort of worst case scenarios would have to be discussed if she went another month without growing; therefore, we were over-the-moon excited to hear she gained a full inch. We actually cheered when the nurses read off her measurements. I think they might have looked at us like we were crazy that we were so excited to hear she was measuring in at 28 inches, but we have learned to truly celebrate the smallest victories.

Breathing: Bex started breathing heavier when she was on ACTH. We were told that was a side effect of the medicine and that we should only be concerned if she did it in her sleep, which she doesn't. When I mentioned this again to the neurologist last month, he basically wanted to make sure she never turns blue around the mouth and brushed it off as lasting effects of ACTH or weak breathing muscles. Anyways, a month later, she still has the tendency to breath heavy. Bex's physical therapist has even asked me if it is normal for her to breathe heavy, so I knew this was not something that I was just imagining and we wanted to see what the pediatrician had to say. He said her lungs were crystal clear, there was no blockage in her nasal passages, and no heart murmur. Based on his assessment, this is nothing that requires further testing at this point. He also didn't really have any answers, so the good news is there are no red flags right now and hopefully, it is still the ACTH working its way out of her system. 

Spine Alignment: The neurologist had pointed out that Bex's spine appeared to have a slight curve, which was impacting the alignment of her body.  He didn't order any tests at the time, but said we should continue to monitor it. Of course, that planted a seed in our heads, so we asked the pediatrician if he had every noticed it before. He said he had not, but did a physical exam today to look at her spine.  When she turned her head to the left or straight, he said he could see a slight curve and due to Bex's history recommended a referral to a pediatric orthopedic doctor. That appointment will most likely involve spine x-rays to get a baseline of her spine development and then from there we will just wait and see if or how this might impact her development.

All in all, it was a good appointment.  We really weren't surprised that he made the referral for us to see an orthopedic doctor, since we both realize that anything that veers slightly off the course of normal development will result in additional follow-up and monitoring.  We both laughed that "due to Bex's history" and "wait and see how she develops" are becoming common themes in all doctor's appointments. We are also learning to accept that most appointments will leave us with more questions than answers. There are days it is hard living with so much unknown about her future, but we remind ourselves on a regular basis to not let that worry stop us from enjoying moments like this with her!

"Yes pool boy, one more circle around should do it."
Bex Sandwich!

Wednesday, August 13, 2014

Learning to Live in Holland

Yesterday, I was doing some online research and stumbled across this poem, which provides an analogy about what it is like raising a child with developmental delays.  This mom so clearly explains the roller coaster of emotions that I have felt ever since the day that we were told that Bex had an abnormality with the white matter in her brain.

Welcome to Holland, by Emily Perl Kingsley
I am often asked to describe the experience of raising a child with a disability – to try to help people who have not shared the unique experience to understand it, to imagine how it would feel. It’s like this: When you are going to have a baby, it’s like planning a fabulous vacation trip – to Italy. You buy a bunch of guidebooks and make your wonderful plans. The Coliseum. Michelangelo’s “David.” The gondolas in Venice. You may learn some handy phrases in Italian. It’s all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The flight attendant comes and says, “Welcome to Holland.” “Holland?” you say. “What do you mean, Holland? I signed up for Italy. All my life I’ve dreamed of going to Italy.” But there’s been a change in the flight plans. They’ve landed in Holland, and there you must stay. The important thing is that they haven’t taken you to a horrible, disgusting, filthy place full of pestilence, famine and disease. It’s just a different place. So you must go out and buy new guidebooks. You must learn a whole new language. And you will meet a whole new group of people you would never have met. It’s just a different place. It’s slower-paced than Italy, less flashy than Italy. But after you’ve been there awhile and you catch your breath, you look around and you begin to notice that Holland has windmills, Holland has tulips, Holland even has Rembrandts. But everyone you know is busy coming and going from Italy, and they’re all bragging about what a wonderful time they had there. And for the rest of your life, you will say, “Yes, that’s where I was supposed to go. That’s what I had planned.” And the pain of that will never, ever, ever go away, because the loss of that dream is a very significant loss. But if you spend your life mourning the fact that you didn’t get to Italy, you may never be free to enjoy the very special, the very lovely things about Holland.

As Chris posted in his blog post last night, Bex had a great week last week. We had one of the best weekends with her last weekend that we have had in a long time. We were so happy to have our baby girl back and also so proud of all the accomplishments she was making. Last week was one of the first times in awhile that I can honestly say most of my days were spent embracing and loving "Holland" without thinking too much about "Italy" or feeling sad about how differently things have turned out from what we were planning a year ago. 

Appointments like yesterday will never get easier. They are the slap in the face reminder that life in "Holland" can be tough. Words like "diminished potential" will always make my heart ache, but like that poem states if we spend our time mourning or thinking about how things could be different, we will miss out on all the wonderful things about life with Bexley.  While the doctor yesterday can say she has "diminished potential", he only spent less than a half hour with her and most of that time he was more focused on the images of her brain and his computer than her. I have spent every day with that little girl for the past nine months....and she is one tough, determined little girl. She has a smile and giggle that can turn even the hardest days around. She is incredibly loveable and lives for kisses, hugs, and cuddling. In my eyes, those are all qualities that mean she has the unlimited potential to do great things as well as inspire and bring a lot of joy and happiness to all the people in her life. 

Tuesday, August 12, 2014

Our Bexley Balloon



We had Bexley’s follow up appointment with Neurology this morning.  Lindsey and I left with mixed feelings…as tends to be the case after doctor appointments.   I’ll start off with the good news –

In regards to everything that we can control (doctor’s choice of words), Bex is doing very well.  We haven’t seen any spasm like occurrences, she isn’t showing any other type of seizure activity at this time (knock on wood), and her last EEG reading looked good.  The previous EEG found focal abnormalities that suggested epileptic potential; however, her most recent EEG showed no traces of these focal abnormalities.  We were hoping for it to remain the same, but in a way the EEG actually improved!  We are very grateful that it appears the hypsarrethemia is resolved for now and nothing has gotten worse so to speak.

The “blah” part of the appointment was really the appointment itself. These appointments are always a reminder that she has this issue and a potential for other disorders or delays in the future.  The neurologist used buzz phrases like, “diminishing potential” or “developmental delays” and so on.  He actually showed us images of her MRI done back in June and pointed out the white matter abnormalities. It’s one thing to be told the issues are there, but when you actually see them being pointed out on screen, it really hits you.  He also mentioned he was a little concerned with her spinal alignment, but not concerned enough to order spinal X-rays. He just asked us to monitor that for the next several months (as if we needed one more thing to worry about). Despite his doom and gloom perspective on how her brain compares to other children her age, he did recommend us looking into books by Anat Baniel, who has developed a method of helping children awaken their brain, take advantage of the brain's ability to heal itself, and help them reach their full potential. If you know Lindsey and I, then you have correctly guessed that we have already ordered a copy! Knowledge is power and we are always looking for any additional ideas that we can try to help Bex.

We aren't naive about the fact that Bex may have a long, hard road ahead of her.  We are fully aware that she is already experiencing developmental delays, which is why we have her in physical therapy.  We aren’t afraid of what the future holds for her or us so to speak and we aren’t trying to dismiss it.  It’s just a kick in the gut every time you are reminded of it by a medical professional.

I like to think of this situation as a balloon…a Bex Balloon if you will.  We have this balloon and at times it gains momentum and starts climbing higher.  For example, the last two weeks of physical therapy have been great!  Bex has been doing much better at tummy time, she is rolling herself over from stomach to back, holding her head up better, and is even gaining strength to sit up with support from the boppy pillow.  These improvements are night and day compared to before we started PT.  We have been pumped with her progress and we get excited about the potential.  The balloon is soaring to new heights! 

Then we have an appointment with a specialist like today that just reminds us what we are dealing with from a medical perspective.  Some of that air leaks out and that balloon gets a little deflated and it descends a bit.  This will be the standard pretty much for the rest of our lives – we will have great weeks and progress and that balloon will soar.  Then we will have follow ups or other issues come up that will take a little air out of it.  So is the hand we have been dealt…

But you know what…there is no way Lindsey and I will let that balloon pop.  No way in hell.  A doctor’s prognosis can bring that balloon down a bit, but it won’t touch the ground.  Not on our watch.  We had a good talk after and we agreed that even though appointments like these hurt, we will stay the course.  We will continue to take on whatever is thrown our way and help give our baby girl the best resources needed to excel in this world.  If you know me, you know I am full of hot air…and I’ll keep that balloon flying!!!