Ondine's Curse

It took me forever to figure out a name for my blog.  I really wanted to use "Trach This" but Chris stole it :).  So, I decided to go with Your Curse is My Miracle.

Last year Chris was invited to write a short piece for our church's devotional book.  His piece made me cry because it was about Noah.  He entitled it Your Curse is My Miracle.  So thanks, Chris, for my blog name.

As many of you know, my son has a very rare genetic disorder called Congenital Central Hypoventilation Syndrome (CCHS). ( Anytime I say CCHS in my blog, it will refer to his disorder and not a local school,  Clay Chalkville High School).  He is one of 4 people in Alabama to have this and one of around 800 worldwide.  (numbers are estimates).  This disorder is one that affects the autonomic nervous system (ANS).  Noah's brain does not tell his body to breathe, causing his CO2 to rise while sleeping so he must have some form of mechanical ventilation the rest of his life.  Currently, he has a trach and a ventilator.  His mutation (mutation being the PHOX2B gene mutation) is 20/25.  Normal in you and me is 20/20.  He is considered mild and only needs his ventilator when sleeping or sick.  He has a lot of medical equipment, which I will talk about in a future post.  We have to constantly monitor his CO2 and oxygen levels.  Some patients with CCHS have abnormalities in heart rate, heart problems such as arrhythmia and bradycardia,  blood pressure problems, eye problems, neural crest tumors, bowel problems (Hirsprungs Disease), temperature control problems and I am sure I left some things out.  Noah has some of the eye issues, swallowing issues, had bradycardia as a baby and temperature control problems.  We go annually to sleep studies to check ventilator settings.  Also bronchoscopies are done annually (this is where they sedate him and scope the trach/throat area to check for granulomas, which is scar tissue).  We also have home vent clinic several times a year, annual holter monitoring (heart monitor), and endless therapies.

Another name for CCHS, is Ondine's Curse.  However, I am not very partial to this one and do not use it often.  According to the myth, there was a water nymph who had an unfaithful mortal lover.  He swore to her that "every waking breath would be a testimony of his love".  When she found out he was cheating on her, she cursed him so that if he should fall asleep he would forget to breathe.  Eventually he fell asleep and he stopped breathing.  (Taken from Wikipedia).

Now, you may think that having a child with a trach and ventilator is difficult.  You are so right.  We have to be very careful and take the vent everywhere with us.  There is a lot of equipment to maintain and tons of supplies to organize and store.  Traveling is very challenging because we have to take our mini ICU with us (we call our van the traveling ambulance).  It is a very hard way to live.  But, do we see it as a curse?  NO!!!!!  We have a love/hate relationship with all of the equipment because without it, Noah would die.  So we hate having to care for it, lug it around all of the time, worry about it failing, etc but we desperately need it.

We see Noah as our miracle.  CCHS is extremely difficult to diagnosis.  In fact, the NICU doctors had no idea what was wrong with him at first.  They had only seen one case of CCHS the entire time they practiced medicine.  Our pediatrition had only heard of it but never knew anyone to have it.   It is a miracle to us that he was diagnosed so early so that we could begin the life saving treatment.  Because of this, he has no cognitive problems and is extremely healthy.

So you see, Noah is not our curse at all.  He is our miracle.  He is extremely tough and resiliant because he has been through so much in his short life.  He has taught us so much about ourselves and has changed our perspective on life.  He is not our curse, he is our blessing.  Our own personal little miracle.

Why?

Why?  That is a question that I get asked frequently and over half of the time I have no answer.  "Why does God have teeth", "Why do butterflies taste with their feet instead of their mouths", "Why are people mean".  These are just a few of the "why" questions that I have received for which I have no answers. 

The one "why" that I can answer is "why did you start a blog?"  For one reason,  my husband keeps bugging me so I decided to try writing one.  However, my main reason for writing this blog is to try to help other mothers/families who are going through some of the same things that we have and are currently experiencing.  If I can help one mother who is in the NICU, one mother who has a child with a rare disease, one mother who is terrified of having a child on a trach and a ventilator,  or one mother who is having trouble juggling "normal" life with a "special needs life" then I will be happy.  My goal is to help raise awareness for my son's rare disease and to give people an insight into the daily struggles and triumphs of raising a family dealing with a rare diagnosis. 

So, welcome to my blog and thanks for reading.