It has taken me a long time to be able to do this – we have been living with Gabby’s condition for over 12 months now and it has been a very difficult journey for us. So, it is best to start at the beginning of this journey, I would imagine….
I have a beautiful 21mth old baby girl named Gabriella who was diagnosed with Aicardi Syndrome at 4 1/2 months old – 22.12.08 in fact – a date i will never forget…
Gabby was born normally and as the result of a normal pregnancy. She was diagnosed antenatally with a pulmonary sequestion on her R)lung at my 20 week scan, but other than that, it was uneventful. After birth, tests were conducted on Gabs to try to clearly diagnose just what the lung issue was and to decide on treatment for it – luckily, the CT scan they conducted went down further by just an inch and her liver was also scanned. The CT scan showed a liver lesion that was diagnosed as a hepatoblastoma or liver cancer at 14 days old – we were in shock – how does our 14 day old baby have cancer and what does it mean??? Well it meant 4 rounds of chemo, surgery that took out 60% of her liver at 3 1/2 months old, then another 2 rounds of chemo. It meant weeks and weeks of hospitalisations for infections and finally, a finish to this nightmare at 4 months – or so we thought…
We had a week of peace – then during the very week she finished her cancer treatment, Gabby started to have movements that looked like wind only they were happening long after she had eaten. Being ultra paranoid in the way that having a baby born with cancer makes you, I videotaped them and took them up to the hospital where a junior oncologist sent me home saying they were just wind – not convinced, I took the tape to her oncological consultant who took one look at them, said “this is serious” and rushed her up to neuro for an EEG – and the rest, as they say is history….
She was diagnosed with infantile spasms of course, then an MRI showed such horrendous brain abnormalities that the neuro team said she should not even be social or interactive. She has a schizencephaly on her right hemisphere which is a crevasse going into her ventricle. She has almost no corpus callosum and has heterotopic grey matter and polymicrogyria, mainly in her right hemisphere. Having ticked 2 of the Aicardi boxes, they took her down for an eye test and bingo – the 3rd box was ticked – Aicardi Syndrome – 3 days before Christmas – Merry Christmas to us!!!!
So, by this time, I wanted to take my girl and run away – hide away from this terrible situation – the things they said about Gabby and what her life would be like just tore me apart – the longer she stayed in hospital, the more things they found wrong with her it seemed. The terminology was so new, the concept was so frightening, it made me wonder why we had even been given her in the first place – why give her to us to love if she is only going to be taken away?
Why?? because she is the greatest child and the greatest teacher!!! She is so charmingly bright and so engaging and so delightful to have around. She is more than social, she is curious, she is interactive and so very happy all the time – ok, well most of the time….she is starting to have the normal terrible 2s behaviour – i never thought i would be so happy that my child was being a little so and so….She tries so hard to be happy – we are talking about a child who smiled through chemo and was laughing 5 days after having a major organ operated on…
She has cognition – she knows when she is being told no and pushes her boundaries to see my reaction. She is slowly learning makaton sign language and can do a few signs. When asked where her dog is, she looks at her, when asked where her sister, nanny or poppy are, she looks at them as well. She has understanding and can anticipate things. She can feed herself off a spoon and has decided that mummy feeding her is not good enough and is grabbing the spoon from my hand and putting it in her own mouth. She can say a few words – mum-mum (usually when she is cracking it, but it is music to my ears), da, opa (when she wants to play open/shut them), row-row (for row row row your boat) and as of this weekend – cuggle (for cuddle)
She has the full gambit of motor movement up to cruising around furniture and her neurologist and her physio are both confident she will walk given time – in the meantime she is busy building up callouses on her knees from her crawling. She is weaker on her left side, especially her hand, but extensive OT has seen her get to maybe 75% capacity with this.
We have just ended a hospitalisation because her seizures have become intractable within the last month – 2-3 times per day, but the EEG shows that even though they are happening, they don’t seem to be doing any major damage at the moment and she is still developing in spite of them. She is the shining light of not just our lives, but of her medical team as well because she is proving them wrong – and apparently, they don’t mind that!!!
Life is hard with Gabby in it – there is no normal per se and we have just had to find a new normal that allows us to function to the best of our capacity. I get lots of people saying they don’t know how I do it – i tell them that i considered the alternative, but there wasnt one, so i just get on with it…..I still query why we were given this Gabby – it still seems so cruel to me. People say that I was given her because I was strong enough to handle her – to me, thats a bit of rubbish, because mothers love their children in all shapes and forms – i am just doing my job as a mother, same as they would… I dearly hope that Gabby continues to develop in the way that she has – it would break my heart if she regressed…. sorry for the long post – its been over 12 months in the making – here endeth the sermon…