The First Year

Becky arrived at 38 weeks, on 31st August 1995. I'd noticed decreased fetal movements during previous days, and after monitoring the baby for a while the decision was made to induce labour.

Becky was born weighing 7lb 15oz, was 21" in length, and appeared to be a normal healthy baby. But within the first few hours I became convinced that something was wrong. Her hands and feet were blue, and she seemed excessively sleepy, but I was assured that this was perfectly normal in a newborn.

However Becky continued to be sleepy, and wouldn't feed. I had already breast-fed two babies with no problems and thought it would be plain sailing with my third, but I couldn't have been more wrong. She wouldn't latch on, she wouldn't suck, she kept falling asleep... and the weight just dropped off her. By the time she was a couple of weeks old she had lost nearly 2lbs, and I was desperate for help... I just couldn't get her to feed properly. In fact much of the time I couldn't even wake her up... yet the rest of the time she was screaming with hunger. But when I tried to feed her she'd have maybe half an ounce of milk and then immediately fall into a deep sleep again, but then wake soon after hungry again.

At first the visiting midwives and health visitors took no notice when I said she wouldn't feed. "Oh, sometimes children will refuse to eat" they said "... but no child will let itself go short on drink!". But mine did. Eventually, when she continued to lose weight, they started to take notice of me... but instead of giving me help and support, they insisted on watching me trying to feed her, telling me I was doing it wrong, and then getting me to express the milk and bottle feed her. I asked why she couldn't feed, and was told that it was because she was too weak and tired as I hadn't been giving her enough to eat. I felt terrible.

In the end I had to switch to bottle feeding her, as she seemed to find it a little easier and it also meant that I could monitor how much milk she was having. But still she would only take a couple of ounces a feed, and then the vomiting started... as soon as I'd fed her she'd bring the whole lot back again. It was soul-destroying. I seemed to spend all day and all night feeding her, cleaning her up, and feeding her again, and still she didn't gain weight. By the time she was 4 months old, we honestly thought she was going to die - the plump little baby I'd given birth to was nothing but a pale, weak, bag of bones - the skin just hung off her.

The diagnosis

Eventually she was referred to a paediatrician as a 'failure to thrive' baby, and it was on our first appointment that they noticed her heart murmur. She was sent for an ECG and a scan and it was discovered that she had Pulmonary Stenosis and mild Hypertrophic Cardiomyopathy, but luckily these weren't considered serious enough to need treatment - they just wanted her to have 6 monthly check-ups.

It was at this point that a probable diagnosis of Noonan Syndrome was made - although nobody thought to tell us! In fact we found out quite by accident when we took her to the doctors one day, as there on the computer screen was "? Noonan Syndrome ?" We asked what Noonan Syndrome was... "Oh, just a syndrome... a collection of symptoms!", was the less than helpful reply - although we later found out that none of the GPs at our practice really knew much about it themselves.

By this stage we were desperate to know all we could about Noonan Syndrome, but all we found in any books were a few lines which said it was 'similar to Turner's syndrome', and caused 'mental retardation' and 'sterility'. Not surprisingly we were horrified by this and wondered what on earth the future would hold for Rebecca, but felt that the more we knew the better prepared we would be to help her. Luckily for us we had a computer and access to the Internet, and this turned out to be a life-saver for us.

But still the feeding problems continued, although things did get a little better when we thickened her milk with Carobel. She was such a lovely baby, yet it got to the point where I really used to dread feeding her because of the vomiting - and although this may sound a terrible thing to say, the first year of her life was definitely the worst of mine. But slowly she began to gain weight, and when she started mixed feeding she was sick a little less often. Unfortunately she still didn't drink very much though, and she had terrible trouble with constipation which nobody seemed able to help us with.

The second year

Thankfully during her second year things improved dramatically, in that by the time she was around 18 months old she was only ever sick if she was ill. She learned to walk when she was around 20 months old, and became much more happy and active - she was like a different baby! Her heart defects continued to be monitored, but thankfully still gave no cause for concern. The main problem now was the constipation, which unfortunately nobody seemed to take seriously. She was given lactulose, but even at very high doses this had no effect whatsoever... but convincing the doctors of this was an uphill struggle. "Are you sure you're remembering to give it to her?", was the usual response.

Given that the lactulose didn't work, the only thing they seemed able to suggest was to try prune juice (which she flatly refused to swallow!), and to get her to drink more. This I found particularly frustrating, as she wouldn't drink... which was probably the main cause of her problems in the first place! But they seemed to find it unbelievable that a child would refuse to drink, although I later found out that this is quite common in children with NS.

I kept going back to the doctors though, as she would go for days without being able to empty her bowels, and would spend literally hours straining and screaming with pain. But nobody seemed to appreciate just how bad the problem was. In the end the only thing I could think of was to video her one day when she was really distressed, and then take it in to the doctors with me and challenge them to watch it if they thought I was exaggerating.

Eventually they referred her to a specialist and she was examined under general anaesthetic, but they couldn't really find any cause for her problems apart from saying she just had a 'sluggish bowel' and should 'drink more'. They prescribed Bisacodyl suppositories which helped a bit, but on several occasions the problem was still so bad that she had to have an enema. She really hated the suppositories and enemas, and it got to the stage that whenver we changed her nappy she would get hysterical... it really broke my heart that she seemed afraid of her own parents, although I could totally understand her fear.

But luckily towards her second birthday she developed a liking for apple juice, and would drink several cups of it a day, and this seemed to solve the problem.

All in all her second birthday seemed to be a turning point for Rebecca, which was wonderful for both us but especially her... it had been a very long two years!

Just to add a few points on her general development...

• Until she was at least a year old she couldn't bear to lie on her stomach as she couldn't lift her head off the floor. Consequently she didn't crawl until she was over a year old, and then only 'commando style', wriggling on her stomach as she didn't seem to have the strength to support her body weight on her arms and legs.
• She first sat unaided at around a year of age.

• She began to walk at around 19 months of age. Some time after this she began crawling.

• She didn't really begin speaking much until she was around 2, but after that her speech progressed well and is now very good indeed. (In fact she never shuts up!!!)

The third and fourth years

Thankfully, the only problems we have had with Becky since have been minor ones... such as a total refusal to have anything to do with toilet training until she was around 3 1/2! I suspect this may have been partly to do with her earlier problems in that respect... and partly because she is incredibly stubborn and will only do things when she is good and ready!!!

But Becky is the most happy, friendly, chatty and amusing little girl that you could imagine. She is truly a blessing and I feel so lucky to have her. The first couple of years were difficult, but it does get better, and now I wouldn't want my little angel to be any different! Yes she's still small, and at one time we were considering enrolling her on a GH study, but since she is otherwise healthy and happy we have decided against it. As my mother has always said to me... "The best things come in small packages!"... and to me, Rebecca is definitely the best!!!

Becky is now nearly four, and has no real problems (apart from a bit of a lack of hair!). She started nursery school a couple of days a week in May, and will be going full-time from September as she absolutely loves it! She seems to be everybody's friend, and is a wonderfully friendly and outgoing child! She also loves books, puzzles, counting, dancing, and singing, has boundless energy, is always happy, and has bags of confidence and charm!