Rare Disease Day – my speech

Last week I gave a speech for the New Zealand Organisation for Rare Diseases on Rare Disease Day. It was just 3 days after Eva’s anniversary and I was a bit worried about how I would cope. I managed to get through till the last paragraph before I cried, so I think I did pretty well. Here is the speech and a few photos from the event.


My story is a difficult one to tell. It’s difficult for multiple reasons. For one, my story is about my daughter, Eva, who is no longer here, she died almost exactly two years ago at 10 and a half months old. It’s also difficult because when I tell it honestly, as I try to do, it doesn’t make me look great.

Eva’s birth and diagnoses revealed things about myself that I didn’t know were there. Things I’m not proud of. Things I wish I could change. Things I can’t change. The only thing I can do now is share my story and stories of other parents of rare children, so that people in those early stages of diagnosis, the time when your world feels like it has turned upside down, can hear other voices who have been there and can know that they aren’t alone, regardless of how they are feeling. I can’t change how I coped with my daughter’s diagnosis, but I can try to create community and support and understanding for parents going through it now.

My pregnancy with Eva started off as many others do. I had the requisite morning sickness and tiredness. I looked forward to the 12 week scan and the chance to “meet” my baby. But my scan wasn’t like the standard scans. Instead of leaving the scan with a glow and a smile, I left worried. They had found Eva’s nuchal fold was just outside the measurements of normal. I didn’t even know what a nuchal fold was.

After the blood tests came back I found I had a 1 in 69 risk of something being wrong.

An amnio was ordered and after a very nervous wait I was informed nothing was wrong and I was having a healthy baby girl.

I had about 9 weeks of normal pregnancy. At 20weeks the anatomy scan looked normal. But at 24 weeks my obstetrician ordered another scan. She wanted to rule out heart issues as the nuchal fold can indicate that as well.

The obstetrician was right. Eva had a hole in her heart. They didn’t just find heart issues though. They also found her left eye was smaller than the other and they couldn’t find her corpus callosum in her brain. After that I had scans every couple of weeks and things started to look a bit better. One by one the problems dropped away. At 36 weeks her heart and brain looked normal. It was just her eye they were concerned about.  

Eva was born on April 6, 2014 by induction. When she arrived she was blue and floppy and not breathing. A paediatrician was waiting and rushed her to the special care baby unit where she was put on CPAP breathing support.

Her eyes were firmly shut and her left eye looked almost the same as her right eye except it had a blueish tint, like she had got into a fight.

That night, when I was wheeled into the scbu to see her for the first time the paediatrician started talking to me about what they were noticing. She had a shorter neck than standard, and she was hyper flexible. Her ears were low set.  The doctor wanted to know if I, or anyone in my family, had any of those attributes. Those signs meant nothing to me at the time, they were just a random and seemingly explainable collection of physical anomalies but now looking back they were all clear indications that something else was going on.

At two days old doctors started doing tests and it felt like every day at least one more bomb was dropped on me. First it was that she was blind. The eye I had thought of as her “good eye” was actually affected by microopthalmia and coloboma, her other eye was almost nonexistent and in it’s place she had a cyst or hemangioma, doctors never did settle that argument. While she might be able to see light and dark, we couldn’t tell and there was nothing they could do about it.

Her first MRI revealed she had an absent corpus callosum. I was told that this by itself is not necessarily an issue but if there is anything else wrong in the brain then the likelihood of it affecting her development increased dramatically. A second MRI revealed her frontal lobe was smoother than normal. She had a hole in her heart and a valve open that should have shut at birth. And she was profoundly deaf in both ears.

As each piece of diagnosis settled on my shoulders I felt my brain struggling to regain equilibrium. When she was blind I rallied and told myself it would be hard, but I would learn braille and it would be ok. When her corpus callosum was missing, I thought, people all over the world are missing their corpus callosum and it doesn’t affect them. When her frontal lobe didn’t look as it should I started to crumble. My daughter was blind and the part of her brain that allows us to think, plan and process information was not formed as it should be.  I asked myself, how would I teach a blind child who could not think how to live in this world? But still I told myself I could do it.

Then the word CHARGE syndrome was mentioned and my resolve dissolved. When I googled CHARGE Syndrome it told me it was the number one cause of deafblindness in children.

Eva had not yet had her hearing screening and I had been holding onto hearing as the one means of communication she would have. I had been singing to her and talking to her. Whispering in her ear as she lay on my chest.

I pushed for her hearing screening to happen before the day of discharge and I held her as I watched her fail the screening on both ears.

The human brain is an amazing thing. It can reorganise and bounce back. It can adjust to news with an elasticity that is just phenomenal. But in a week my brain had heard too much bad news. And i was broken. I pictured Eva lying in her cot, deaf and blind. I pictured her in a world of darkness, crawling across the floor, surrounded by inky black depths that I could not penetrate. And then I choked on even that image remembering that she may never crawl at all. I imagined that she would never know I was her mother. Never talk. Never walk.

As the rain pelted down in a classic Wellington winter, I saw my life unfolding before me, my relationship with Eva’s dad crumbling, me at home with my daughter, unable to work, living my life as her carer, not as her mother.

I couldn’t do it. My brain had been jumping through hoops to stay positive, but it had hit the end of its elastic abilities and the band had snapped.

I told social workers I didn’t want to do this. And the prospect of adoption was raised. They told me I needed to decide if I wanted to be her parent.

When I look back at the dates of those meetings, they were a mere 6 days after Eva was born.

CYFs looked into adoption, but with Eva’s complicated and developing diagnosis, no family was willing to take her on.

During this process I was with Eva all day at the hospital. I continued to pump breastmilk for her and spent hours with her in my arms. I cried non stop. I didn’t know what I wanted, and wished I had never been given an option not to parent her, but also couldn’t turn off the urge to run from this terrifying experience and now that that option had been opened for me I couldn’t look away from it.

CYFS gave me another option. I would take Eva home for 6 weeks and then we would call a family meeting. At that point I could put Eva into foster care while we decided what to do.

I jumped at this choice. I felt like I was drowning.

My entire world had been rocked and I didn’t know if I could be her mother or if I even wanted to. It was around this time that Eva’s dad left the picture as well, leaving me and Eva without a permanent place to live.

I was processing a huge amount of information and I was reeling. I felt like I had a target on my back. A colleague asked me if I felt like I was cursed, and I coulnd’t help but nod. While driving to and from the hospital to see Eva I pictured swerving my car into traffic just so I wouldn’t have to deal with any of it anymore.

Eva went into foster care after the six weeks at home with me. She was in care for two months and during that time I saw her a lot and developed a strong relationship with her foster family. Within just a few weeks of her going into care I decided I wanted her back. I set about making it all happen and took active steps to ensure I would be able to be the parent she needed. I went on medication for depression, I saw a counsellor, I signed up for the benefit and found out a day care provider for Eva so I could return to work and support us. I also moved into a home with two amazing friends and their baby son. They saw my need and offered to be our make shift family while I got the hang of it by myself.

While I will always regret those two months, because they are two months I missed with her, I know that her being in care allowed me to rest. Physically and mentally. It allowed me some clarity. I could take a step back and see things for what they really were. I had been in a downward spiral and having her in care allowed me to step outside of it. It allowed me to become the mother she needed me to be.

And so she came home to live with me and we lived together with my friends and their son in our unconventional family home.

While there were some distinct differences between our life and your typical mother and baby, for the most part we just got on with it. Sure, we had a huge list of doctor’s appointments, and then there were the therapy visits, and of course she was fed through an NG tube which meant I got very good at inserting a piece of medical equipment down her nose, and I was constantly getting prescriptions for various medications.  

And yes, coughs and colds were scary and we sometimes ended up in the emergency room and the ICU when she couldn’t fight those sicknesses herself, for a while it felt like we might start paying rent at the hospital. But we also were just a mother and daughter. We went to mama and baby group meetings, we had early mornings where I watched her bleary eyed like so many other mothers all over the world. We had cuddles and giggles and smiles. We had walks and photos and baths together. The first few months of turmoil felt like another life because instead of seeing her as her diagnosis, I saw her as Eva, a person, not a list of medical conditions.

When I was a child I had a whole list of things I wanted to be when I grew up. I wanted to be a writer, a pilot, a rock journalist. For a while after seeing Free Willy I wanted to be a marine biologist. I wanted to be a musician, an actor, a photographer. I wanted so many things and the truth is that while I might not have been good at all of them, most of them were within my reach.

It felt like I had so many doors open to me. No one was standing in my way telling me what I couldn’t do, or putting up barriers to my success.

When Eva was born and I found out about all her challenges, a big part of what I found hard was realising that the experience I had growing up would not be her experiences. While I had every door open to me, she would not. While some of my dreams may have been lofty, for eva they would be impossible. Every way she turned there would be someone or something telling her she couldn’t do it.

I realise now that the very idea that these options are what is important in life is seeing it through my own very specific lens. But up until she was born I had never really had to look at it differently. I had never had my ideas about what made a “good life” challenged. I thought a good life was going to university, getting a good job and a promising career, finding a partner and getting married, having kids and seeing them succeed as you did. No one ever said these things explicitly to me but it’s what I believed without ever realising it.

While for the most part Eva’s birth meant I had to realise how many doors would be shut to her, if I’m honest I was also worried about myself. Parenting by itself shuts certain doors to you, international jetsetting is probably off the table and even Saturday nights out become that much harder, but parenting a child with a rare condition like CHARGE Syndrome felt like a dead end to me. All the options I had thought about as a kid, ripped away.

Being the parent to a child with a rare disease did not fit into any version of my so called good life. In fact, before Eva was born I remember clearly thinking that I almost couldn’t think of anything worse.

I saw parents in public with their special kids and I pitied them. I thought I saw parents who were exhausted and strung out. I though I saw broken marriages and ruined careers. I thought I saw parents putting their entire lives on hold for children who didn’t even know they were their parents. I saw them giving and giving and giving, and getting nothing back.

And the reality is, some of that is true. Parenting a special needs child or a child with a rare disease is not easy. At times it can be excruciatingly hard. But it’s not all give give give, and the rewards are huge. I just couldn’t see them before.

Eva’s birth changed my entire life. For a few months, it felt like that change was for the worse. But over time I felt my viewpoint shifting. I began to see that while doors might be shut to the Eva’s of the world, that didn’t make her life any less worthwhile. It just meant the world was not built for her. And that wasn’t her fault. I decided to try to ensure she could live a life that made her happy. Whatever that looked like. I would help open doors for her that might otherwise be closed. I would help her access the world and jam my foot in the door  if I had to so she could get through.  

Eva forced me to change my definition of a good life. Both for myself and for her. I began to see that happiness can be found in the smallest places. In a swirl of a finger on her forehead. In a warm towel after a bath. In a tickle under her chin. I started to find joy in things I looked past before.

Eva took pleasure in love and company and touch. She didn’t cry for her lost hearing and vision. She was herself and nothing more. She showed me what it is to be alive and to live your life.

Eva accomplished a lot. She surprised her therapists and me. She was determined and gutsy, brave and loving.

Before she died Eva was showing signs she was soon crawl. When she was first born, it was so important to me to know what she would be able to do. It was like she had to pass a certain level to gain my love. By the time she died I was thrilled with her success, but she didn’t have to do anything to keep my love. She owned me through and through. And she could be whoever she wanted to be.

I have been telling this story, despite how it makes me look, since before Eva was born through my blog The One in a Million Baby. I started writing about my experiences when I was pregnant and scared.

I decided to be brutally honest on my blog.  I told the whole story, foster care and all. I felt like if I wasn’t honest about my decisions and the way I had felt, I wasn’t helping anyone. I wanted to be a voice that showed this particular experience. I wanted a mother in my shoes to find my blog and know she wasn’t alone. That it’s ok to feel rage and grief and everything else. That it’s ok to feel the urge to run. And that I felt all those things but that I came out the other side and was happy that I did. I wanted that struggling parent to see if I could make it through after the thoughts I had and the actions I took, then they could too.

I started hearing from mothers all around the world telling me they appreciated my honesty. I kept writing. It was then that I really realised the power of storytelling. I saw the threads of my story connecting me to parents all over the world and I wanted to expand that. So I reached out to some fellow bloggers and writers about sharing their stories and I started the podcast.

As I recorded and edited each episode I imagined a mother who felt just as alone and desperate as I had listening to a show and feeling just a little less lonely. I imagined a parent nodding along in recognition with the shock and sadness that comes from finding your child has a rare condition.

I wanted honesty, beauty, brutality, because that’s what this experience can be for some of us. I didn’t want saccharine platitudes that tell you special children go to special parents, or that God only gives you as much as you can handle. That might help some parents, and that’s great, but they didn’t help me. I wanted to acknowledge the heart ache and talk about it, I wanted to air out the hard feelings to create space for new, positive experiences. I wanted to create a voice in those parents’ ears saying, we see you, it’s hard, and we’ve been there too, it’s going to be ok.

I hope that in the 20 episodes I have released since starting the podcast I have created a place where we can be honest about the challenges we face in the same breath as we celebrate our successes. Hiding our struggle does nothing for anyone. Pretending being a special needs parent is all sunshine and light does nothing to change things. We need to acknowledge how hard it can be to come to terms with this new life we all lead and figure out how we can make it easier for our kids and other new parents. Because while the world continues to be a place that shuts its doors on babies like Eva, parents like me will continue to fear this as an outcome for our lives. We will still see it as something which doesn’t fit into our idea of the good life.

So I continue to share these stories and my own, in the hopes that it helps other families feel community and acknowledgment, and sheds some light on these rare lives so that people outside this community can have compassion and connection. So that our lives feel less rare, and more known.

The truth is, having Eva was the best thing that ever happened to me and while I will always wish I could take away some of her pain and her challenges I will never wish away her life. My time with her was so good. The good life in a nutshell. Eva was a one in a million baby, and every episode and conversation and connection is for her and because of her.

3 thoughts on “Rare Disease Day – my speech

  1. Pamela Ryan

    Thank you so much for sharing your story. I think your bravery, honesty, and love were gifts that Eva had from the best mother she could have ever had.

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