Having HoPE will give you courage

Guest Author:  Stephanie Stavnem

It’s been nearly three and half years since I found out I was pregnant with Kaiden.  I was initially stunned and scared.  I was not scared because I was only 22 and working at Walmart with no college education.  I was not scared because I was still in a new relationship with the father.  I was scared because I have Treacher Collins Syndrome, a syndrome where you are born with underdeveloped facial bones and deformed ears that come with lack of hearing.  A syndrome where I have a 50% chance of passing it down to my own child, a 50% chance of my child getting ridiculed growing up.

Treacher Collins is not life threatening if there’s proper management.  Many children born with Treacher Collins are born with a recessed jaw, which complicates the airway. Therefore, it was important to have specialists on this journey with me to provide Kaiden the best care possible, if needed.

I’ll admit, I don’t like surprises.  I felt my knowledge and experience with my syndrome provided me the advantage to be prepared.  At my 20-week ultrasound, I had an amniocentesis done to confirm if I had passed down the mutation to Kaiden.  In those next four weeks, I would have found that he indeed did have the mutation.  However, something happened in between those four weeks that was so significant, that the weight of my child having Treacher Collins was not as heavy as I imagined it would be.

I was scheduled to come back for an ultrasound at 23 weeks because Kaiden was being stubborn and wouldn’t show them his heart.  The ultrasound technician pointed out his 4 chambers and the valves working in sync.  She then looked at his brain and the room got very quiet.  After a few minutes, she told me she would bring the doctor in.  We waited a good 10 minutes, which felt like hours, before the doctor came in and started telling me how Kaiden has a brain disorder.  My whole world started crashing down on me at that point, and I could only hear a few words that he was spewing out.  “Mental retardation”, “grave prognosis”, “termination is an option”.  I got out of there as quick as I could without asking any questions.  I left feeling like a failure.

In those next few weeks, I couldn’t tell you how many times I typed “Holoprosencephaly” in my Google search engine.  The more articles I read on HPE, the more hopeless I got.  Eventually I reached the point in my pregnancy where I had to see my midwife every 1-2 weeks.  Each time I went, they felt it was appropriate to send in a “specialist” to explain Kaiden’s prognosis and the chances, or lack thereof, of him living.  I would come home feeling defeated and alone because the doctors were preparing to deliver a dead baby, not a living one.

The last few weeks of my pregnancy, my C-section got scheduled and a plan was being made.  The specialist who would deliver Kaiden was on my side as he made sure there would be an ENT in the OR in case Kaiden’s airway was compromised.  The last time I saw my midwife before I would deliver Kaiden, she said, “I love that you are being so optimistic. How do you do it?”  It was simple.  I have stated how I felt hopeless, defeated, and like I had already failed Kaiden.  Each time, Kaiden would give me a good kick in the ribs, and I genuinely felt like this was his way of saying, “Hey mom.  I’m here, I’m strong, and I will fight”.

When the day came and Kaiden finally arrived, he came out fighting.  He immediately had to be intubated when the ENT discovered that he had bilateral choanal atresia (blockage of the nostrils) and couldn’t breathe out of his nose.  Nurses had to put socks on his hands because he tried to pull out the tube.  Kaiden spent 5 weeks in the NICU and during his stay there, he had a g-tube placed and a tracheostomy.  He had an MRI done to confirm that he had semi-lobar Holoprosencephaly as well.  He got to come home the day before Valentine’s day and it was the greatest gift I could ask for.

These last couple of years haven’t been the easiest, but I don’t take anything for granted.  Kaiden sees about a dozen different specialists and has therapy every day of the week, but we have been extremely fortunate.  Kaiden has changed my life in ways I didn’t think was possible.  He has inspired me to go to school and get a degree in nursing.  He has inspired me to embrace my syndrome.  I’ve been called a monster for bringing Kaiden into this world and passing down my mutation.  However, his smile and laughter that I see every day proves that he is not a child suffering, he is a child who loves.  Kaiden will forever be my greatest lesson in life.

2 Comments on “Having HoPE will give you courage”

  1. What a lovely story. It’s close to my heart. Linda, mom of Michael 29, HPE alobar.

  2. What a lovely story! And thank you so much for saying what needs to be said much more often–these kids are not suffering, and they are more than capable of feeling and giving love. This little boy has already made the world a better place by inspiring his mom to go back to school to help others.

    All the best to both you, Stephanie, and Kaiden!

    Susan, mom of Beth, 29, septopreoptic HPE