Holden’s diagnosis of Pfeiffer syndrome means he faces medical challenges that most children do not. The last year has been tougher than I would have liked, but given the vast range of health issues Pfeiffer syndrome can cause, Holden’s medical needs have been minimal so far. Yet, they do exist. Here is a peek into his medical journey during his first trip around the sun.

The first time we had to deal with a complication related to Pfeiffer syndrome was in late August 2017. Holden was about 3 months-old and one night he suddenly started having spells where he looked like he stopped breathing. After the spells ended, he would start screaming inconsolably. Sam and I were really scared by this, so we packed up both kids and drove to the Dell Children’s emergency room.

The ER visit was a dizzying experience, played out under the throbbing glare of hospital lights with the word “seizure” mentioned too many times. That night Holden had a CT scan. Then he was admitted to the hospital and hooked up to an EEG to monitor his brain activity for the remainder of the night.

This story actually has a happy ending, because we learned Holden was not having seizures. However, he does have terrible, silent acid reflux that manifested in a condition called Sandifer syndrome.  Sandifer is a rare syndrome that occurs in less than 1% of children with acid reflux. For Holden, this means that his reflux is so painful that it causes him to have episodes where he holds his breath to try to lessen his misery. Lots of infants suffer from acid reflux, but the severity of Holden’s is related to his syndrome. After we got Holden’s reflux under control with Prilosec, it was almost like a switch flipped and he turned into the joyful baby boy we know now.

In addition to acid reflux, Holden has complications with his eyes. We patch one of his eyes every other day for an hour to help with his exotropia (eye misalignment). He also sees a pediatric ophthalmologist regularly to monitor the intracranial pressure buildup behind his eyes. This helps us to know how quickly we need to surgically intervene since his brain will likely build up pressure as it expands against his fusing skull.

Holden also just finished bi-weekly physical therapy sessions to help with his torticollis (head tilt). Many infants have torticollis, which is often caused by a muscle tightness in the neck due to how they were positioned in the womb. Since Holden’s torticollis failed to completely resolve after intense physical therapy, it may be related to a hearing or vision problem caused by Pfeiffer syndrome.

Another issue Holden faced was figuring out how to eat. His facial structure and narrow nasal passageways make it difficult for him to coordinate swallowing and breathing. I’m proud to say that he powered through feeding therapy and he is starting to eat like a champ!

However, the biggest challenge we have faced so far has been putting Holden on a CPAP machine at night. We found out in March that Holden has mild Obstructive Sleep Apnea due to his compromised upper airway.

Based on his hatred of the CPAP during his sleep study, I didn’t think there was any chance he was going to tolerate the machine at home. Let me tell you – that baby boy is proving me wrong. He has rocked it so far! It certainly isn’t an ideal situation, and there are definitely some rough nights, but Sam and I would prefer to deal with the annoyances of the CPAP versus a tracheostomy at this point.

If you are reading this and don’t have a child with complex medical needs, maybe all of this sounds overwhelming. The truth is, so far, it’s not. It is just what we do now. It is frustrating some days, but in the same way it’s frustrating to get my older son to brush his teeth.

If you are a parent whose child has a complicated medical diagnosis and you’re reading this, you may be able to relate. I have learned so much this past year about the hardships many families go through with their medically fragile children and I know that we have been lucky so far.

There is a good chance things will get harder for Holden and our family, but for now, we will continue to be grateful for his health. For always, we will be grateful for the extremely vivacious, endlessly determined little boy that we get the privilege of raising.