Terrible Twos

Holden recently turned two and is proving himself to be the poster child for this infamous age of terror. He can literally scream for hours and frequently kicks and fist pounds the floor. During his astonishingly long and hysterical tantrums, Holden often gets into such a frenzy that he makes himself puke in order to receive extra attention.

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While his determination is impressive, Sam and I are pretty unnerved by these outbursts. We feel especially stressed about Holden’s fits since we are always wondering if he is exhibiting typical two year-old behavior or if these extraordinary outbursts are actually related to complications from Pfeiffer syndrome.

When it comes to Holden, anything that seems slightly off makes Sam and I worry that it is a bigger problem than just “The Terrible Twos.” We ache for the day he has the vocabulary to tell us what is really going on.

When it comes to Holdens tantrums, we are concerned that he could be having behavioral problems because he is not getting good sleep. If you have followed Holden’s journey, you know that he suffers from sleep apnea and getting him to wear his CPAP has been a huge challenge.

For the better part of a year, I was tyrannical about forcing Holden to wear his breathing machine. I went as far as to tape his pajamas over his hands so he couldn’t rip his mask off in the middle of the night. For a long time, my tough love seemed to be working.

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Then we had his annual sleep study and the boy went crazy. He ripped off every electrode they hooked him up to as soon as it landed on his head. The technicians tried to put his arms in restraints and he proceeded to immediately hyperventilate and throw up.

That night, we opted not to go through with the study and he has refused to wear his CPAP ever since.

Since then, we have met with Holden’s pediatric pulmonologist and have a plan in place to address his sleep issues. In the meantime, since Holden is not wearing his CPAP, anytime he has an apneic episode, the flow of oxygen to his brain is interrupted. This lack of restful sleep can lead to behavioral problems in children. So, Sam and I are left wondering, are these horrendous tantrums “The Terrible Twos” or are they related to Pfeiffer?

Part of our plan to alleviate Holden’s sleep apnea is to have his tonsils and adenoids removed. The hope is that by removing these his airways will be less constricted and he will breathe better at night.

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We also recently met with Holden’s ENT and learned that he needs new tubes in his ears. This was no big surprise. Then he had his hearing checked and a new worry set in.

I sat in a little booth with Holden while the audiologist ran various tests to monitor his hearing. I could immediately tell that he wasn’t responding to the stimuli as quickly as I was.

The test results indicated Holden still suffers from mild hearing loss, which I naively thought had been resolved the first time tubes were placed in his ears. When I learned this, my mama brain started spinning and thinking about his speech. Once again, is it the age or the syndrome? Is Holden’s pronunciation and gibberish normal 2 year-old babble or is he distorting words because he can’t hear as well as the average child.

In order to determine the extent of his hearing loss, Holden until will undergo an Auditory Brainstem Response (ABR) Test. The ABR uses a special computer to measure how the hearing nerves and brain respond to sound. For children Holden’s age, an ABR has to be done under anesthesia.

Our goal is to anesthetize Holden as few times as possible over his lifetime, so his ENT will perform all of the procedures I have mentioned so far back-to-back later this year - adenoids, tonsils, tubes and the ABR.

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Another aspect of Holden’s development that concerns Sam and me is his coordination. This is another area where I am unsure whether to attribute his clumsiness to Pfeiffer syndrome or the delightful age of two. 

Holden can’t seem to master going down the stairs at our house and the other day I watched him run straight into a wall. I recall Everett being particularly ungainly around the age of two so I think, maybe Holden is just learning his physical limits. Yet, I know from his pediatric neuro ophthalmologist that Holden is missing one or more muscles in his eyes and this causes his vision to be misaligned. He also likely has problems with depth perception. Yet again I wonder, is it the age or the syndrome?

To address the issues with his eyes, Holden will also be undergoing surgery to fix his hypertropia and improve his vision. In my ideal world, we will be able to pair this surgery with the procedures the ENT will perform. It comes down to how long he can be safely be anesthetized as to whether this will be able to come to fruition.

While we wait to find out the answers to all of these questions regarding Holden’s development, I find a strange comfort in my son’s epic tantrums. Trust me, most of the time I want to rip my hair out while I am trying to dress him and he repeatedly kicks me in the face. But, when I think of Holden’s fierce, determined spirit I am relieved he has this spunk. The road ahead is not going to be easy, but Holden Smith is going to barrel down it with incredible strength and resolve.

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Looking Ahead

A few months ago, I decided it was time to approach the subject of Holden’s facial difference with my 3 year-old, Everett.

“Ev, do you know that your brother is a little different than the other kids?” I asked him while I was giving him a bath.

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He gave me a dirty look, stomped his foot and emphatically stated, “No, Mama, he doesn’t. He. Is. Like. Every. Body. Else.”

Be still my mama heart. What an amazing thing for him to say. I was elated to know that when Everett looks at his brother, he sees no difference between Holden and other children. In many, many ways, I know that he was right about this. If you visited our house on a Saturday, you would find Holden scooting around on toys cars, throwing toddler tantrums and using his first words.

Yet, the truth is that Holden’s syndrome does make his life a little different due to his medical needs and his distinctive appearance. Here is what lies ahead for Holden and our family in 2019 that will make our year unique.

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We currently have a war going on at the Smith house which I like to call Holden vs. the CPAP. Holden uses a CPAP machine to treat his obstructive sleep apnea. Apneas are episodes where Holden’s breathing temporarily stops throughout the night due to obstruction caused by his small upper airway. His CPAP machine shoots a constant and intense stream of pressurized air directly into Holden’s nose via a mask. This keeps his upper airway open so he can breathe easier throughout the night.

Understandably, there are some nights Holden isn’t okay with having air forced into his nose and he wakes up and throws  incessant, raging screaming fits. If this happens, we consider the battle for that night lost and try again the next day. We desperately hope the CPAP wins the war with Holden because if It doesn’t it could mean a tracheostomy at some point.

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Also on the agenda for 2019 is eye surgery. Holden will undergo a short operation to help correct his hypertropia. Hypertropia is a problem with the eye muscles which causes Holden’s left eye to turn upward. This causes the line of vision in his left eye to be higher than the line of vision in his right eye. Because of this Holden tilts his head to the right when he wants to focus on an object. This tilt brings his eyes into alignment and gives him clearer vision.

Holden will also have an MRI and meet with his craniofacial surgeon in 2019. The goal of this MRI is to see if he has developed a Chiari malformation. The simplest explanation of this malformation is that the back of the brain starts to push down into the spinal canal, which can cause many complications, including a build up of fluid on the brain (hydrocephalus). If he has this and it is severe enough, he will need to undergo another cranial vault reconstruction next year.  If he doesn’t have the Chiari malformation, we allegedly don’t have to go back to the craniofacial surgeon for 2-3 years.

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To add to this, the Smith family also faces an emotionally difficult social journey in the years ahead. Frustratingly, people often stare at Holden and occasionally make remarks about our son’s appearance. Luckily, the boys don’t realize this yet. This gives Sam and I time to build up our arsenal of coping mechanisms so we can help the boys stay strong when they do notice the looks and the comments.

Through all of this, Sam and I find ourselves feeling grateful. We are grateful that Holden is thriving. And we are grateful for our little Everett and his beautiful, innocent ability to remind us that in most ways Holden is just like everybody else.

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Building Blood

After Holden was diagnosed with Pfeiffer syndrome, I stumbled through the five stages of grief: denial, anger, bargaining, depression and acceptance. A few months ago, I thought I had finally settled permanently into “acceptance” until I had to pick up a prescription for an iron supplement for Holden.

This seems like a simple act, but it sent me spiraling back through the stages of grief because it is actually the first step we are taking to prepare him for his first cranial vault surgery in August.

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Holden is taking iron for two reasons: to build up the iron levels in his blood and to maximize his response to a drug called Procrit. Procrit is an injection that stimulates the body to make more red blood cells. The goal is to increase his hemoglobin (the protein inside red blood cells) levels by 10-20% with the Procrit injections. Since cranial vault remodeling typically involves a great deal of blood loss, we want Holden to go into surgery with as much of his own blood as possible in order to minimize or eliminate the need for a blood transfusion.

Since Holden will continue taking the iron every day up until his surgery, our family calendar is marked with at least one related medical task from now until the end of August. Now that the surgery date is written down where we can see it, gone are the days where we could try to ignore the fact that our son is about to face hardships we don’t truly understand.

Each day we tick off on our calendar, my fear increasingly causes me to weave in and out of those now familiar stages of grief. I think, “How will I just sit there idly in a waiting room while my child undergoes skull surgery?”. I think, “What do I tell Everett when we leave him for a week and his brother comes back swollen and bruised?”. I think, “How will it feel to touch and kiss the ear-to-ear scar that is about to be permanently etched into my son’s head?”.

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And the hardest thoughts are about what will actually happen to him when they wheel him away from me and into the operating room. Slipping back into “denial” keeps those thoughts at bay for now.

On a happy note, each day also brings with it an advance in Holden’s development. Everyday he is keeping me on my toes with his endless curiosity. He chases me around with toy dinosaurs, scares me by climbing on the furniture, and throws fits when he doesn’t get his way - all typical, exhausting, one year-old behavior.

As I witness Holden hit his milestones, I do spend time in the grief stage of “acceptance.” I don’t want to accept the situation, but I do accept my son. So when I put him to sleep at night, I look at his perfect head and kiss it. I realize the days that I can do this without him having a scar running across it are quickly coming to an end. But, after his surgery, when he has that scar, I will kiss it and love him just the same.