Living Life With Congenital Central Hypoventilation Syndrome

An article appeared today in "Things You Don't Know" that states, 

"Congenital central hypoventilation syndrome or CCHS is an extremely rare condition. Some consider it to be one of the most horrific conditions a human being could ever suffer from. The reason is that each and every time you fall asleep could be your last. The condition refers to a sudden stop of all respiratory functions while a person is deep asleep. More simply put the brain just forgets to tell the lungs to breathe."

Because this is the breathing disorder that Caleb is diagnosed with, I would like to respond to the article by
painting a picture of what life really looks like living with an individual with this disorder. 

Within the first 20 minutes of birth, Caleb was not breathing properly and was placed on a ventilator (a machine that provides him with breaths). Two weeks later, once we had the diagnosis of CCHS, a tracheotomy was performed and a trach  was inserted in Caleb's neck. The following two months were spent getting Caleb stabilized and then training Bob and me on all of the equipment so we could bring him home. 

Once home, Caleb was on the ventilator 24 hours a day and that meant that there were no quick trips into the community. Every trip was well planned and would need to include bringing the ventilator, back up battery, emergency bag along with the normal diaper bag. Initially I limited my store trips for when Bob was home, but over time I learned to navigate the store with all of the necessary equipment. Of course there wasn't much room left in the cart for groceries, but I felt a great victory in these outings. This experience was not horrific, but it was cumbersome and tiring.


During the past several years there have been many medical advances. Decades ago, individuals with CCHS would have had to utilize an Iron Lung. To me, that does seem horrific, but nowadays the ventilators are much more portable, the batteries are smaller, and many of our kids are implanted with diaphramatic pacers which stimulate their nerve to breathe. As Caleb grew, we were able to have diaphramatic pacers implanted and they took the place of day time venting.  The pacers gave Caleb great freedom, as he could run around and play like other children, without being attached to a machine. The first time Caleb was able to play in our backyard without the machine was a day I will always remember because or the gratitude I felt. 

The lack of normal response to shallow breathing  requires parents and caregivers to be ever vigilant. For children who do not use the ventilator during the day, the parents must make sure the children do not fall asleep while riding in the car. Children cannot be left alone to play in their rooms and as the children become teenagers, caution must be taken that the teens do not fall asleep while watching television or playing video games. 

Because of the need for a higher level of care and also the need for constant watchfulness, most families have nurses that come on a regular basis. From the time Caleb was discharged from the hospital, we had a nurse that stayed the night with us. The nurse remained awake because if Caleb disconnected from the ventilator, he could die. Caleb continues to have a nurse that accompanies him to school to care for his medical needs and a nurse must be at our house if we are to go out for the evening without Caleb. In Caleb's case and I believe most others, the nurse is paid for through a state waiver program or the insurance company. 

 Apart from the nursing care and the extra equipment, though , kids with CCHS are no different than your children. They laugh and love and enjoy a fulfilling life. Many accomplish much more than the medical profession ever imagined and continue to amaze all of us. So, although the author of this article was not able to share the stories of our amazing children that live with this diagnosis, I thank him for giving us the opportunity to make our story known.

The Diagnosis

As the tests began to come back and the idea of an infection in his blood was proven negative,  I began to realize that this would not be just a couple of days extension.  Sending out tests and getting back results can take weeks.  As I was quickly to learn,  hospitals do not run on my schedule.  On the weekends no testing occurs.  Holidays are out,  and in the midst of waiting for answers,  a large snow storm hit Cleveland.  Who would have thought that would have delayed everything,  but it did.  Even though it was only a few days,  it seemed like an eternity when all we wanted to do was bring our little boy home.

 Family began to come in town to visit and we all began to pray for Caleb's healing.  Here is where my faith in God became tricky.  For the only reason that I could imagine that Caleb would be born sick, was so that God could heal him, and show everyone how mighty He is.  I was willing to be part of that plan,  because how much time could it take God to heal him?  I didn't figure very long.   And then we would have an amazing story to tell.  Unfortunately, this wasn't God's plan. 

At the two week mark,  the doctor informed us that they had found a diagnosis for Caleb.  The news was not good, for with this diagnosis, Caleb would be on a ventilator 24 hours a day for the rest of his life.  We were heartbroken , but even as my heart cried out in grief,  my mind reminded me that I serve a big God, and  the miracle would just be that much more amazing. This struggle within myself, to live through the grief, but also hold onto my faith, would continue for the next 2 years. 

 At the time that we received the diagnosis,  the doctor  gave us the option of having Caleb disconnected from the ventilator and letting him peacefully pass away in his sleep. I was both shocked, that we had been offered this choice, and sickened by the thought of choosing to end my child's life. The fact that God was going to heal Caleb,  made the decision a mute point. Bob and I looked at each other and instantly made the decision to move forward with life and to implement whatever interventions would be necessary. 

Although we did not make the decision to have Caleb disconnected from the ventilator,  I am aware of families that have chosen that path.  At one time I may have passed judgement,  but no more.  For in choosing the path we did,  we committed to making sure Caleb's needs are met for the rest of our earthly lives.  We did not know the magnitude of this at the time,  but perhaps some families do and realize their own limitation. Or perhaps they feel removing medical interventions will be best for their child.  With all of the ways that doctors can save lives,  this decision is more and more placed into the hands of  families.  No mother or father wants to have to make the decision that will end the life of their child,  but I respect and honor each and every decision and the doctors that offer these choices.   Just 40 years ago,  these choices would not have had to be made because many or our children wouldn't have survived.  I am not saying that wouldn';t have brought its own horrible grief and pain,  but at least the parents wouldn't have felt the weight of having made that decision.  As medical advances continue,  this struggle between saving life at all costs and choosing when to let a child pass,  will continue.  If you ever have opportunity to walk through these choices with a family,  please extend support and grace,  because regardless of the path they choose, they will forever feel the weight of the decision they have made.

The Day That Changed Everything

Although we had trouble conceiving,  the rest of the pregnancy progressed uneventful. At 37 weeks, Caleb was ready to make his arrival.  We had the nursery ready, my bags were packed, and we were so excited that we were going to be parents.  All ultrasounds revealed a healthy baby boy,  and so we had no expectations of what was to come.  I can remember sitting in Caleb's nursery,  imagining life with my little one.  One night,  I put my hands on my belly and thanked God for the little miracle that was growing within me.  Just as Hannah had done in the Bible,  I prayed and dedicated this child back to |God.  I felt both his conception and the fact that we had made it so far into the pregnancy was a miracle.  I prayed that God would use Caleb's life to bring Himself glory and that our family would be used to touch others.  Little did I know how God would answer this prayer.

As the contractions got stronger,  we headed off to the hospital.  Once we arrived and were admitted, things began to happen quickly.  I had chosen not to have an epidural,  not because I feel there is anything wrong with having one,   in fact I had an epidural with all 3 other pregnancies,  but because both of my sisters had gone natural and if they could do it,  I needed to prove that I could also do it.  Let's just say that my pride and my need to prove myself,  cost me a great deal of pain.  And for anyone that knows my family,  not one person cared whether I went natural or used all the medication they had to offer. The only positive to this course of action was that I never had to question whether my use of an epidural affected Caleb.  Just this past year I read an article where they were trying to show the correlation between epidural use and an increase in the rate of autism.  I was glad to dismiss that questionable cause in his diagnosis of autism.   

After much pain Caleb emerged a healthy baby boy with apgar scores of 9 and 9.   I held him and looked into his beautiful face.  As he began to fall asleep,  I handed him back to Bob.  Within a moment,  the course of our life would be changed forever.  The nurses noticed that he wasn't looking so well and as they whisked him away, our room filled with specialists.  Soon after,  he was  taken to the neonatal intensive care unit(NICU).  One would think that at this moment I would be in a panic,  but I truly thought it was just a little glitch in the newborn plan.  So I got cleaned up,  ate lunch,  and continued to wait.  When the doctor came in to talk with us,  he said that they were suspecting a blood infection,  which a few days of antibiotics would clear up.  Although I wasn't thrilled with this change in plans,   a few days delay in bringing our little one home wouldn't be too bad. They wheeled me down to the NICU to see Caleb and before I was even allowed in the doors,  I had to scrub my hands and arms.  To this day I cannot walk into a hospital and not feel  a tightness in my stomach at the smell of the special soap they use. Once the hand washing routine was complete,  I was allowed to enter the NICU.  I wasn't prepared for what I would see.  My little baby, that was lying in my arms so peacefully just a few hours ago,  now lay on a bed hooked up to numerous wires with a  tube down his throat that was breathing for him.  It broke my heart.  We sat next to his little bed and didn't even feel comfortable stroking his hand without permission.  Thankfully there was a nurse on staff who saw our hesitancy and encouraged us to touch him.  But picking him up and holding him would have to wait for another time.  I sat next to his bed in disbelief.  How does one begin to process life when everything that you had planned begins to change.   For me , I turned to my faith.  I truly believed that God had a plan for this little boy,  and so I began to figure out what that plan was.  I suppose you could say that this helped to carry me through the next two months, but in the long run,  this became a stumbling block.  The Bible tells us ," Many are the plans in a person's heart,  but it is the Lord's purpose that prevails",  Proverbs 19:21.  It is a very good thing that our future is not revealed to us.  If it had been,  I never would have had the strength to make it through the day.