Saturday, June 8, 2013

It's not that bad

I do not want you to think that having a blind child is horrible, especially since the first post sounds very depressing.

Yes, finding out was very difficult. They say that realising a child has a disability is similar to loosing a child.

But the last two and a half years have been the best years of my life. Hannah is a delight and joy in our family and I cannot imagine my life without her. So keep on reading as I hope to share both the challenges and the victories.

Realising something was wrong

Here is a rather long account of how we realised something was wrong:

I remember being confused during the first 6 weeks. All the books told me that Hannah would love to look at my face. Hannah never looked at my face. My instinct told me something was wrong, but I let it go. Then at 6 weeks I noticed that Hannah's eyes moved in a strange way. I think if I had more experience with new born babies I would have known that that was not normal and that something was wrong, but I had no experience with new born babies. I asked some friends if they thought it was normal, but they also did not know. Then at eight weeks I decided to take Hannah to a doctor. 

Hannah fell asleep on the way to the appointment and consequently was not happy when the doctor woke her up to do his tests. She screamed. He tried to see if she focused on a bright red object, but she would not. Mostly her eyes were closed from crying. The doctor was concerned that she was not focusing and said I should go back in 4 weeks’ time so that we could test it again. Things started to fall in place. I realised just how abnormal Hannah’s eye movements were and that something was very wrong. Four weeks was too long for me to wait to find out what was going on. I started doing research on the internet. I googled ‘funny eye movements’ and came up with a condition called nystagmus. This is an involuntary eye movement but the people who had this condition could still see. I was devastated. The first thing that came to mind was that Hannah was going to be mocked and misunderstood by other people. I cried a lot. I just wanted her eyes to stop doing that and for her to be ‘normal’.

Wow, what a hard time. Let me tell you something about myself. I am not a feeling sort of person. I am more analytical. I am not very emotional and my little heart does not deal well with too much emotion. So this time was super hard for me and my little heart. To love someone that much and to know that something is wrong was just too much to bear. I cried a lot. I remember sitting at a coffee shop and telling a friend that I suspect something is terribly wrong with your eyes. I could not help but cry. She tried to make me feel better by saying that she is sure it is not that bad. Most people said that to me, even my family. Do not discount motherly instinct. I knew something was wrong. It was just a matter of finding out what. Where to start?
I tried to make appointments with opthamolgists but they were fully booked for a few months. I decided to wait until after the Christmas holidays. 

At that time I was going for holiday to visit my mother. She lives in Pretoria and is a two hour flight away. Nico was off to Singapore to look for a job as we had long ago decided to move there. In the mean-time my eldest sister, Annie, had told my dad, a radiologist who lives in Australia, that I suspected something to be wrong with Hannah’s eyes. For some unkown reason I had not told him yet. He was immediately concerned. As he had been a prominent radiologist in South Africa for many years with a successful practice, he had lots of contacts and immediately scheduled an MRI for Hannah with some of his old collegues. He also pulled some strings for me to see a highly rated pedeatric neurologist while I was in Pretoria. He was fully booked for 5 months, so it was a small miracle. I also organised to see an opthamologist.

We arrived to at the hospital for the MRI. Hannah had her first sedation. She was fast asleep throughout the whole process. The MRI showed a normal brain which was a huge relief. I was then off to see the neurologist. He was a pleasant kind of man. Of course Hannah started screaming as we entered his office. I think she has a thing against doctors like her mommy. He casually did some tests on her and then mentioned a few things that could be wrong, all of this while Hannah was screaming in my left ear. It sounded like nothing serious was wrong just by the tone of his voice. He also did not mention her nystagmus. He did however mention her retina. I did not pay attention to that, because I have no idea how the eye functions. I walked out of his office feeling fairly confident that things were not as bad as it seemed. He had written a note for me to take to the opthamologist. 

I did not bother to read it as I thought he had written everything he explained to me in the note. What I realised later is that he had explained everything to me. He was just so calm when he did it and I was so ignorant of the biology of the eye that I did not realise that he was saying something serious. I remember him telling me that there might be something wrong with the retina. I did not know what the retina’s function was and therefore did not pick up what he was saying. Biology was my least favourite subject at school and I dropped it as soon as I could. I know very little about how my own body functions. Biology was my twin sister, Rosa’s, favourite subject, along with all the languages.

Anyway, I only realised that what the neurologist had told me was serious when we visited the ophthalmologist. She was a youngish lady who also recently had a little baby. Hannah was fast asleep when we arrived at her office and refused to wake up when the doctor tried to examine her.  We had to go back home and return once Hannah had woken up. It was all very stressful as everything had to be done before 1pm when we were scheduled to fly back to Cape Town. We had forgotten the neurologist’s letter when we first went to see the doctor. The doctor had to phone my sister, who was at home, and asked her to read the letter aloud. As the doctor repeated what my sister had read to her, I realised that what the Neurologist had told me during our visit was a lot more serious than what I had originally thought. His letter mentioned the condition Leber’s Congenital Amurosis. 

We went back home to wait for Hannah to wake up. While we were there I did an internet search on this condition. It sounded extremely serious. I just started crying. The ophthalmologist tried to make me feel better in saying that there is a chance that it is not LCA. Looking back, I think that she was being very unprofessional. She tried to make me feel better when the signs were pretty clear that it was LCA. Kind but unprofessional.

Thinking back, that was a difficult time. Knowing there was something seriously wrong, but not knowing what it was. Hoping for the best, but having a feeling that I should expect the worst. When we arrived in Cape Town I tried to make an appointment to for Hannah to see an ophthalmologist and have the required tests done. It was at the Red Cross Children’s Hospital. 

It would be a year later before the diagnoses was confirmed.

About Hannah

Hannah is our fist born daughter. About six weeks after Hannah was born, we realised that something was wrong with her vision. A year and a half later, after many doctor visits and tests, a DNA test revealed that she has a genetic condition called Lebers Congenital Amurosis. This condition affect the functioning of the retina. Hannah is blind. Let me just qualify this. She is not blind as in can see absolutely nothing. She is legally blind or severely visually impaired. This means she can see something, but very little. It is hard for us to know exactly what she can see as she is still very little. I know that she can see some colours for instance. But being severely visually impaired, she will need to learn braille in order to read and she will need to either have a guide dog or a can to get around.

At the moment Hannah is two and a half years old. I will share some of the joys and challenges during the first two and a half years of raising her and also the joys and challenges going forward. It is an interesting journey and my hope is that someone will enjoy it or be encouraged.