My daughter Grace is now 10, and has an undiagnosed genetic disorder.
She has a huge list of various problems which include:-
Cortical visual impairment and delay
No 3d vision
Impaired swallow and aspiration
Severe Global developmental delay
Our journey began when Grace was only 6 months old, after months of nagging my health visitor she finally checked Grace over, I knew something wasn't right with her, she didn't jump when my mum's dog barked, she wouldn't track an object or even look at me. She would do these funny little 'star jumps' and roll her eyes.
So at 6 months they did a developmental check, Grace hadn't moved from newborn across the board and the health visitors face said it all. She said she was going to refer Grace to the Community Paediatric Consultants, but it would be at least a month before we would be seen so not to worry. How wrong was she, I had an urgent phone call the next morning, we had to go and see the consultant immediately, she was concerned about Grace.
The consultant was amazing, seeing us on almost a daily basis, I knew something major was wrong and she asked me to monitor how often the 'star jumps' happened and how long for. One lunch time a few weeks later she called me to see how things were, I was in a panic, Grace had been having one of her 'star jump episodes' for almost 2 hours and constantly. I was told to get straight to the hospital, luckily I was only a 10 minute drive away. Another hour later we were driving to the hospital in the next town for an urgent EEG. 2 hours later I was in deep shock. I'd just been told that Grace was having seizures an average of 23 hours a day. I wasn't sure how my baby girl was surviving, and I knew this was just causing more and more damage.
The rollercoaster that was our lives for the next few years began. Test after test, consultants, therapists, geneticists, neurologists and many more became a weekly input into our routine. I had medical jargon thrown at me constantly and I didn't have a clue what was happening most of the time.
Gradually the seizures became more controlled with various medications, but the devastating blows just kept coming, we didn't know if she would ever see, talk, walk or even crawl. We were just in a waiting game and all we could do was work at the therapies given to us and hope.
In 2005 Grace had to undergo surgery to have a gastrostomy and fundoplication. The first is a feeding tube directly into the stomach, she had to have this as she was only having approx. 150mls of milk per day (approx 150 calories), she should have been having at least 1200 calories. She was also aspirating this meant everything she swallowed that was liquid (thinner than thick custard) was going into her lungs due to having an impaired swallow. The latter (fundo) is where they wrap the top of her stomach to stop reflux. Grace suffers with severe gastro-intestinal reflux and the fundoplication stops the reflux from travelling back up the tubes. Effectively it stops her vomiting.
I lost count all the tests that were done and only actually know one or two of the genetic tests that were carried out. The specialists have no doubt that Grace has a genetic disorder, however, she currently is still undiagnosed. She is a SWAN child, this means she has a Syndrome Without A Name. One day, maybe, we may find out, or we may not. She may just be a one of a kind. But to me she is still beautiful and she is amazing.
The smiles everyday outweigh every bad thing that happens. We have bad days, REALLY bad days sometimes, when all she does is scream/cry/moan, and its hard, to watch her go through those days, because we don't know what's wrong, we don't know if she's in pain. She can't tell us. She can't communicate at all not even with signs.
Grace still can't walk, but she has taken a few aided 'steps'. She can crawl around, really fast and she can see, she doesn't see like you or I, she doesn't see in 3d and everything is delayed by up to 20 seconds (we don't know for sure on this figure sometimes its less). Best of all the cuddles and giggles we get, they may end up in us being slapped, scratched or bitten but they are worth it.
More recently we've discovered Grace has some issues with her kidneys causing multiple urine infections, both kidneys are small and have some sort of growth on them but as yet its just another undiagnosed condition