The due date

It’s coming. In six days. When Henry was supposed to be born.

I’m observing myself.

How do I feel? Am I okay? How should I feel?

And there aren’t any roadmaps here. It’s desolate, and hard to see three feet in front of my face. I don’t know what’s there. I don’t know how to prepare myself.

There could be smooth road, or there could be a giant pothole, like a swimming pool, and if I’m not careful, I could drown in it, or at least wallow for a while.

My non-pregnant self is desperately scaling the walls. She wants to have a baby in her, this womb of mine. It was supposed to have a baby in it, but genetics had a say about that and took away motherhood after we thought we were in the clear.

And now the due date approaches. It’s going to come quickly. Fiercely. Ruthlessly. For this son of mine who was already born. A due date for a dead baby who already has a birthday.

There’s no logic for this. Babies aren’t supposed to be dead. They’re supposed to pass milestones and make friends and learn and grow and laugh and cry and change and be hugged and loved and taught. They’re not supposed to be dead. But mine is. The Grim Reaper was beside me the whole time. Waiting to collect what was his. And now he has Henry, and I’ll never get to hold him again. Aside from his ashes, worn around my neck, close to my heart.

Something really scary for Halloween

It’s only been one and a half months since we learned there may have been something amiss with Henry. Since then, I have been earning what might equate to an elementary degree in fatal infant diseases. These horrible, often life-threatening conditions forge parents into warriors and experts in their own right. I hope parents of healthy children know how fortunate they are.

 

I just learned about late infantile batten disease – a neurodegenerative disorder. Infants with this disease have poor eyesight, seizures, and start showing signs with slight personality changes. This can include slow learning progression, clumsiness, poor speech,  and other physical symptoms (slow head growth, poor limb circulation, curvature of the spine, and much more).

I heard about batten disease through a facebook group that I am part of, dealing with pregnancy and infant loss. Amelia is a little girl struggling with this condition. She may live to be five or 12 years-old, depending on the progression of the disease.

Batten reminds me of Krabbe disease – another fatal disorder that affects the central nervous system. Infants also begin to show signs of slowed growth progression and become lethargic, often needing respiratory support. There also may be a loss of vision and hearing, and limited movement. Little Lauren is living with this condition (I went to high school with Lauren’s mom). Her life expectancy can be to two years, or longer (with hope and prayers and research).

There are so many things that a baby can have. I only knew about brittle bone disease through one of my favourite movies, Amelie. Mr. Dufayel, the fictional l’homme de verre (man of glass), who has every corner in his apartment and joint on his body padded to protect himself from breaking bones, and lives as a recluse must have osteogenesis imperfecta type 1.

How could I have known that there was a fatal form of this genetic disease? Osteogenesis imperfecta type 2 is rare, incompatible with life, and what caused my son to only have a short life in my womb.

Then there’s MTHFR, which is an enzyme/gene defect that can cause neural tube defects, several forms of cancer and chemical reactions that a typically growing baby doesn’t have, essentially cutting their lives very short.

So many miscarriages are due to conditions that are incompatible with life. Many happen too early to really detect what went wrong.

And the two last heartbreakers I’ll write about are the maddening, unfathomable, mind-blowing, life shattering SIDS and stillbirth. I’ve read that 50 per cent of these deaths have unknown causes, blindsiding parents who thought, or actually did, bring home who they thought was a healthy newborn.

So if you were looking for a good scare on Halloween, I hope I delivered. And there’s so little I know and understand. It’s amazing anyone is born “normal” and that anyone has healthy pregnancies. I want a baby – it’s high on my to-do list, but what are the odds of actually having one that will live, even if I get to bring my future son or daughter home?

Two weeks

Two weeks ago today, we had our first ultrasound. September 19, 2012 is the day we found out that everything was not OK.

While an ultrasound uses sound vibrations to get an image of babies inside their mummies, these sound waves crashed into the depths of our lives and reverberated throughout the universe in a spiral until it came to a deafening halt on September 28. We’re now trying to pick through the rubble and aftershock.

For today’s entry, I am sharing the note that I wrote on facebook once we had a diagnosis for Henry, which was the Monday following our first ultrasound.

Henry’s first ultrasound photo, before we knew.

My news from the last week

Friends,

Mine and Tyler’s lives have changed drastically in the last week. It began in May, when we had the wonderful news that we were expecting a little one to grace our homes with joy sometime in late January. We eagerly anticipated our first ultrasound, which happened last week, on September 19. We had no idea anything had been awry during my pregnancy – no false contractions, bleeding, or anything else – just a regular, easy pregnancy to date that brought us a lot of joy.

During our first ultrasound, we were, at first, elated. It was our first time seeing our child. We found him to be the most beautiful little baby, and we were so proud. He was funny because he moved away from the ultrasound wand when the doctor pushed in a little harder to get a clearer picture of some part of his anatomy.

Unfortunately, this and the feelings of him kicking and wiggling from the inside will be our only memories of him.

The doctor informed us that our little boy’s limbs were really under-developed, and his skull was too large for what a typically growing baby at 20 weeks measures. So much so that they actually pushed my due date to the end of February. We were then handed over to St. Justine’s Hospital to see a genetic specialist, but we had a few days to wait before getting the phone call that would confirm our appointment.

For the next few days, I was a zombie. I cried nearly constantly, and only ate for the benefit of the baby whose diagnosis we had yet to learn. We had no idea what could be wrong, and tortured ourselves by Googling what he could possibly have. The doctor speculated that it could be thanatophoric dysplasia, or one of many forms of dwarfism. We prayed for any form of dwarfism, hoping that we’d be one of the lucky families that learns that everything was actually okay withour son – that he was just growing a little slowly and would need more time, or that it was because of me – sometimes, women with non-typically shaped uteruses show smaller babies who are actually growing healthy and strong. But this wasn’t the case.

I forced myself to think positively for a few days – what could it hurt? I was dismayed at the challenges our child would experience at being different, but anything was better than hearing a death sentence for our unborn child. But we were not so lucky.

Finally, our appointment to see the genetic and fetal bone-formation specialists at St. Justine Hospital came this past Monday. We sat around nervously waiting to hear if we could get a diagnosis so that we could either stop worrying, or, at absolute worst-case scenario, be faced with a tragically difficult decision.

Our ultrasound doctor – who as also our fetal bone growth specialist doctor, was simply fantastic. She said she would go piece by piece, organ by organ, and see if she would be able to let us know why we were there. Not long after investigating, she was able to definitively diagnose our son. It was the worst news we could possibly hear. She said that our son has osteogenesis imperfecta, type 2a. It was fatal, and she was very sorry.

His bones had not been growing properly because they kept breaking – even in the safest place for him to be – in my squishy womb.  But we can’t even protect him from harm in there. Ater we left, four specialists met to go over the results of our ultrasound, and they unanimously ageed that he had this deadly disease, where bones don’t grow properly – the mineral foudation that makes bones rigid simply wasn’t there. His ribcage wasn’t growing in a way that would protect his lungs, and, because ears are made of bones that let us hear, he is also likely deaf. If we carried him to term, the birthing process would re-break every bone in his body, even with a gentle C-section, and he would then die of respiratory or heart failure. We wouldn’t even be able to hold him to comfort him when he cried.

We spent a good few minutes wailing inconsolably in the room, and will be every day, likely for the next few weeks, days and months. This was NOT what we wanted to hear. Not our baby. Not our sweet, little innocent perfect, beautiful baby, who we were so looking forward to raising, introducing to butterflies, music and reading. Who we were going to teach to walk, hear his first words, hear laughing and crying. Instead, we had an impossibly hard decision to make.

No words exist to truly express the deep and dark sorrow that we have been living with. One week ago, everything seemed to be fine. All of my blood and urine samples, and fetal heartrate were excellent. We were joyously waiting to meet our little one. Instead, we are preparing to say goodbye.

Thank you to everyone who has already shown us their love and support. We have kindly been asking to be left alone in our sorrow, and we very much thank you for respecting our wishes. This isn’t something we feel ready to discuss or explain.

At a later date, when we feel ready, we will hold a memorial service for our little Henry. We know that he will soon be with his Grandpa Richard and Grandma Arlene, and that we’ll all be together again someday.

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.