What is this terrible disease?

I find that understanding the science behind why my son died helps me cope a bit better.

It was a few terrible days after our first ultrasound before we found out what affliction might be plaguing my little unborn child. We hoped it would be nothing, or at best, a form of dwarfism. We were passed on to a few specialists at Sainte Justine Hospital, where we would find out more.

When our ultrasound fetal bone specialist doctor told us her definitive diagnosis of a fatal bone disease, we felt as though the world had ended, the walls crumbled around us, and all that was left was our pain.

The doctor’s words will forever ring in my ears: “I have to be very honest with you. It’s osteogenesis imperfecta. It’s fatal. I’m sorry.”
We clung to each other in the hospital room and howled in agony.

We are picking our way through the nightmarish fog by being close, loving each other, and trying to understand what this disease means.

Osteogenesis imperfecta (OI), or, brittle bone disease, is subcategorized into several types. Type 2 is the only fatal form, and is what my little Henry had.  Type 1 is the most common, and most survivable. Many people with type 1 can live a good and long life, often with some mobility restrictions.

According to the Centre for Arab Genomics Studies, OI affects one in every ten thousand births. So, it’s rare. Most cases are the result of a random genetic mutation (a mistake) when the sperm and egg meet. But sometimes, it’s because a parent is a carrier, and in this case, any offspring they make has about a 50 per cent chance of developing a congenital disease. I don’t have the stats down perfectly, but this is my understanding so far.

We are waiting to find out the results of our own genetic counseling through visits to the hospital, which will tell us if myself or my beautiful partner are carriers, or, we hope, find out that this was a genetic mutation. Either way, we’ve been repeatedly told by every counselor, geneticist and doctor that this isn’t our fault. It’s not because of something we did, which is comforting. But the results of the genetic tests will let us know if we’re in the clear to try for more kids down the line. But more on that later.

Type 2 is the most severe form of OI. 80 per cent of affected infants die in the first week; 60 per cent in the first day. It’s very rare, but some individuals with OI type 2 can live up to a week, and even more rarely, a year with intensive life support. Bones are extremely brittle and break in the womb – one of the safest places on earth! Birth often re-breaks the baby’s bones, and, in the case of Henry, the ribs don’t form properly, so the lungs aren’t supported, and most infants die of respiratory failure.

My son was born already having had multiple fractures on the same bones, on his ribs and legs. His legs measured too short because they were breaking as they tried to grow. His short limb measurement was the first indication we had that our baby was not okay.

Despite the devastation we feel and the knowledge that Henry is gone, his ultrasound pictures, and meeting him, even though he was already gone by the time he was born, were some of my happiest moments. He is the most beautiful little boy I have ever seen, and he will always be my first-born. My precious little boy will always and forever be an important part of my family.

In one short week, we went from two blissfully unaware parents, so excited to meet our new little soul, preparing his room, looking into daycares and making other regular newborn plans, to having to say goodbye. To say that this experience has been anything but a nightmare would be the understatement of my life.

It is my most sincere and deepest prayer that nobody I know, and no-one you know, will have to experience this. But if you have, and if you do know someone who has experienced the profound loss of a child, no matter how and at what age, here are some resources that have been shared with me that I have found helpful:

http://carlymarieprojectheal.com/
An Australian mother who has launched an incredible, beautiful and artistic support network for parents who have lost a child or had an interrupted pregnancy (like me).

A very helpful blog post on how to talk to parents who have lost a child.

And, for me, reaching out by writing to friends and family. But everyone grieves in their own unique way. The important thing is that you don’t hold back. If you need to cry, cry. If you need to run and scream, don’t hold it in.

Thank you for reading. Until next time.

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6 comments on “What is this terrible disease?

  1. Sean says:

    Thank you for sharing this information. I know how hard it was for you to write this. You are so strong and brave. I really appreciate and admire your keeping us informed. In a way, it helps me grieve too and process the shock of your terrible loss, as I feel it is my loss too, perhaps not in the same manner or degree but I’ve lost sleep worrying about you. The worst part was not knowing. Your mom was awesome about keeping me in the loop. Good idea to write it all down. I am all eyes.

    • Mel Lefebvre says:

      Thank you Sean. I know this has been a loss for you (and.. yeah… not in the same manner and degree 😉 ). I’m so thankful that my mom has been keeping you and everyone in the loop – I can’t tell you how much we appreciate having a quiet space for our grief.
      xoxo

  2. Anonymous says:

    Aunty says she loves you both

  3. tersiaburger says:

    Thinking of you in your sorrow.

  4. […] I’ve written about what happens next in detail in other parts of this blog (here and here and here). […]

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