On October 3rd 2003 Nicole Crystal Sands was welcomed into the world by her parents Sherry and Anthony and her big sisters Ashleigh,7 and Toni,2. She was born at home which is Cornwall,England. My only problem during pregnancy was constant urine and kidney infections. Nicole was born 14 days overdue after a short labour. We realised something was wrong straight away, It looked like she had a small eye. We were reassured it was just a sticky eye and nothing to worry about as she had perfect vision in it. A week later Nicole still had a sticky eye and had not opened it at all, So we took her back to the doctor and we were given eye cream. We found it difficult to put it in the eye and it still did not work. A couple of days later Nicole started having what we now know are infantile spasms. At the beginning we just thought she had trapped wind! Nicole never cried which we found strange. One day she went blue and stopped breathing so we made an appointment at the hospital. At the hospital the doctor asked a few questions and did a mini brain scan where he found some abnormal areas in the brain, He decided to keep her in for tests. The following days were a nightmare as the seizures were increasing and getting worse. Nicole had to go through various blood tests , an EEG and MRI scans where they found she had complete agenesis of corpus callosum and various cysts. She then had an eye exam. and we were completely stunned when they told us Nicole had a condition called Microthalmia and had no vision in that eye at all, We couldnt believe it. Nicole’s first medicine was phenobarbatol which had no effect on her seizures we read some literature about it and decided we did not want Nicole to have it any more. She then had a course of ACTH which reduced the amount and severity of seizures. As she cant have that long term we have weaned her off it and she is currently recieving 2mg of Clobazam twice daily. Due to the side effects of the ACTH Nicole’s face is really bloated and red and her appetite went through the roof! Since coming off it she has shown no interest in her feeds and her seizures are gradually getting worse again sometimes she can have 11 seizures in 1 hour if that happens i have to give her rectal Diazapam which is really horrible to do. Nicole spent five weeks in hospital which was hard trying to find time to spend with our other children and each other. She was allowed home two days before xmas and we had a good xmas and new year together . Our lives now revolve around time, we have alarms when Nicole needs her medicine and we have to time her seizures, which are scary. Our days are filled with doctor,hospital and other appointments. We are now waiting for a referal to Great Ormand Street Hospital to decide what can be done for her bad eye. We are now playing the waiting game to see if she passes any milestones, Hopefully we can help her reach her full potential and make her a happy child. We love her more than anything in the world and i think that will help her develop more than any programs or doctors. I have included my e mail address feel free to contact me i am still new to this and welcome any suggestions or help you can give. I will update every few months to let you know how Nicole progresses. Thankyou for reading this . Take care
From Sherry, Anthony, Ashleigh, Toni and Nicole.