Omg Jakes love quilt came today! Its absolutely beautiful! You lovely kind people are so talented. Jake is gobsmacked and over the moon with his quilt, i explained all about love quilts and he was so touched, we read through all the stitchers names and talked about where they lived. He says hes taking it to all his hospital appointments with him.
It was so funny because he opened it and immediately saw the dinos and was bowled over, then he opened it some more and saw the octopus in the middle with his name and that was it totally in love with it lol.
Hes recently just had a really hard time with his colitis (feeling loads better now thank goodness) so this was a lovely positive thing for him to get after such a rubbish time.
Thank you everyone, quilters, stitches and organisers xxxxxx
Jake was born in May of 2007, our first child, he weighed in at a health 7lbs 7 and had a good amount of dark hair. We were totally in love with him from that moment, he looked like a baby from a walt disney film!
Being a first time mum I thought most of the problems we came across were just bad luck...trouble breastfeeding, trouble bottlefeeding, wasn't gaining weight, hypermobility, urinary tract infection and not reacting like other babies.
We ended up in hospital a few times from about 4 months old with various little infections and complications, most of it was unfortunate but not uncommon, we gained a paediatrician and Jakes hospital file grew and grew. He was late to nearly all of his milestones, wasn't gaining height or shoe size. He had a reasonable speech delay and had already had 3 small operations by the time he was 4.
Our Peadiatrician was very relaxed about it all, stating some children just struggle.
It started becoming apparent Jake wasn't managing at school, by 5 he had an education plan and nearly constant extra help at school.
Then came growth hormone tests... why wasnt he growing? No one seemed to know, the tests all came back normal and yet his growth was nearly static.
We had been suspicious that there was more to Jake than we knew, but our concerns were yet again placated.
Then at age 5.5 he started having bowel problems....really bad bowel problems, he didnt have any weight he could afford to lose and he looked terrible, he couldn't manage to get to the toilet, had low energy no appetite and we were so worried for him.
We ended up referred to a dietician and trying to cut out dairy and soya whilst having prescription high calorie drinks none of which worked. We were scared and no one was listening until I finally said enough was enough to our paediatrician and told her to refer us to a proper gastroenterologist (by this time it had been months of being messed about). The gastro team were amazing but poor Jake had to go through a colonoscopy, endoscopy, barium meal, ultrasound and MRI to find out what was wrong
The results were came in and we found out he had ulcerative colitis! By this point we were just relieved it was something that could be treated and that he was getting the proper care he deserved.
The gastro team got his colitis under control quickly with the right medication and we were amazed at how much more energy and appetite he had.
Our second follow up appointment was with our lovely gastro doctor, who asked if we had ever considered genetic testing, she had reviewed Jakes file and it might be helpful. We jumped at the chance to see what was going on with Jake as he was still extremely delayed academically and still wasnt growing.
The genetics team followed up with us and took a profile and bloods (luckily by now Jake was an old hand at having bood taken) and we waited. It seemed like forever....we received a letter and further consent form saying that Jakes profile had been reviewed by a panel of experts and they would like to test for something called noonans syndrome.
Obviously I immediately googled it and there I found photo after photo of beautifully faced children who looked just like Jake, who all had similiar stories and issues. I signed and sent the form straight back and just before Christmas, when Jake was 6, we received the letter stating that Jake has a diagnosis of noonan syndrome.
He had been through so much we were scared at first when we found out but actually he is the same wonderful funny Jake except now we have support and an idea how to keep him healthy.
Jake now has growth hormone injections to help him grow and is now not the smallest in the year anymore!
He has an ehcp to help him and a really supportive school.
His colitis was under control but sadly lately he has had a bit if a bad time of it with it flaring up so we have had a lot of hospital visits (on top of all his usual ones!) and another general anaesthetic to see whats going on (6 in his lifetime now.)
Jake is the funniest, most loving child we could ask for and we really thank our lucky stars that although life is hard for him sometimes it really could be a lot worse.