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. 

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!!!

So Long ACTH....It's Been Quite a Ride!

Eight weeks ago today, Chris and I received the news that Bex was experiencing Infantile Spasms. That news was quickly followed up by the news that the best treatment was daily injections to be administered by us for 8 weeks. We were also warned about the laundry list of side effects that ACTH would cause and that there were no guarantees that this treatment would work. I remember the first time I watched one of the nurses give her an injection and thinking there was no way that I could give my baby shots daily. In fact, I almost asked if just taking her into the pediatrician’s office each morning was an option.

Bex received her final ACTH injection yesterday….eight weeks and fifty-three injections later. Ironically, I thought giving the injections would be the hardest part.  That was actually the easiest part. Surviving the side effects was by far the most difficult part.  There were many days that I would spend all day with her, but at the end of the day, I would look at Chris and say, “I miss Bex…..so much” because you could tell she just didn’t feel well and wasn’t herself at all.

Today, we are thankful for many reasons.  We are thankful that the ACTH worked for her and has stopped her spasms for now. We are thankful to have our Bexley back. She is laughing, she is smiling, she is playing, she is "talking" nonstop, and she is exploring her world. After weeks of only seeing little glimmers of her personality, we are soaking up every smile, giggle, and playtime. I have said it before, but it is the best medicine. We have always taken a step-by-step approach to her diagnosis because at times, it is difficult not to get overwhelmed with worry about all the unknowns that lay ahead for us. Eight weeks ago tonight, we said our focus was to get Bex through treatment and stop the spasms. As of right now, we have cleared that first hurdle and for that we are thankful as well.

Next hurdle….the appointment with the neurologist next week to get a better understanding about her prognosis and our next steps for her treatment!

Team Bex - 58 Strong…and Growing!

Lindsey and I have been overwhelmed with the requests for T-Shirts and Bracelets to support Team Bex and spread Infantile Spasms awareness. We have been touched by the kind notes and emails that we have received from people that we didn’t even realize were following her story.   So far we have commitments for 58 shirts/bracelets, which means we have to put in another order!  This has resulted in $1,200 raised so far to donate towards research for Infantile Spasms.  We have had several large donations and to those people we can’t thank you enough.  Of course, every donation helps, no matter the amount so to everyone who has offered their support....THANK YOU!  There, of course, is still time to buy a shirt/bracelet and you can find the details here.

As we mentioned, the funds are going to be used to help with research on IS.  We are donating the money specifically to the Epilepsy Foundation of North Carolina.  I have reached out to the Executive Director there, who has assured me that all of the money will be designated solely towards IS research. She has had a longtime interest in infantile spasms and actually participated in two of the first national conferences on IS for patients and professionals back in the 80’s.  She has enlisted us to be part of a research committee for IS in North Carolina and we couldn’t be happier to join this group.  I could tell from my conversations with her that she is passionate about helping parents and children who suffer from this disorder and we are excited to work with her on this goal.

Team Bex is gaining momentum!

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.