My name is Charmaine and I'm very pleased to introduce you to our beautiful daughter Emily who is 19 & 1/2 months of age (as of March 2008). My husband Danny and I have been married for 14 years and tried to conceive unsuccessfully for the first 12 years - we thought it would happen eventually but it didn't. We finally had to resort to IVF and were EXTREMELY fortunate to conceive on our first attempt. After a fairly normal pregnancy, except for feeling very sick most of the time, Emily Colleen Cartwright was born at 41 weeks (induced) at 3:19am, 3rd August 2006. She weighed 6lb 3oz (2.8kg) and was 47cm in length. It was a very quick birth.
It was quickly noticed that she had a few physical abnormalities - broad big toes, broad and angulated thumbs, extra little toe on right foot, last 3 fingers on both hands don't extend out straight, small head, small mouth, high and narrow palate, nipples a bit far apart, angel kiss on her forehead. And she of course had a head full of lovely black hair.
By the afternoon Emily was transferred to Perths Princess Margaret Childrens Hospital for further testing. It was a bit concerning but we weren't that worried. She looked healthy and fed well from the breast on her first attempt so we thought everything would be fine. We were also still in a bit of shock about the quick birth - Danny only just made it back to the hospital in time!
During our 9 day stay in hospital, Emily had full body xrays, an echo to confirm the extent of a heart murmur and various other tests. Everything was fine except for her heart which showed a PDA which they hoped would close with time. A geneticist visited us and came back with the probable diagnosis of Rubinstein Taybi Syndrome to be confirmed by a chromosome FISH study. We were quite shocked and didn't really know what to think. At that point our main concern was going home. Emily was having trouble breast feeding so she had a short term feeding tube put in her nose to top her up when she didn't drink enough. The feeding difficulties and subsequently slow weight gain was why we were still in the hospital. In the end I resorted to bottle feeding with my expressed milk. Emily did well with this and after a few days the tube was removed and we were able to go home. What a wonderful day that was.
A few days after being at home we got the phone call confirming RTS. We were living in Perth and my mum had flown over from Sydney to be with us for the birth. We were very grateful to have her with us at that difficult time.
The first couple of months Emily was doing really well though her feeding was inconsistent. She seemed to struggle at times and was quite chucky. At 3 months she became unwell, suddenly vomiting all of her feeds. We took her to the hospital where it was confirmed in the first few days that she was aspirating milk into her lungs due to her swallow muscles being weak and uncoordinated. This had developed into pneumonia and she required oxygen. She again had a nasogastric feeding tube put in and all oral feeds were ceased indefinitely. Emily wasn't getting any better still needing oxygen when a respiratory doctor examined her and her recent xrays and discovered her right lung had collapsed - that explained a lot! After a long 6 week stay we finally went home (I was able to stay with Emily and hardly left her side). Emily still required oxygen at night but otherwise was well and tolerated the tube feeding. She started taking Omeprazole for reflux and is still on it. She came off the oxygen after a few months.
While Emily was in hospital, she wore splints on her angulated thumbs to see if there was any improvement - there wasn't. She also wore resting splints at night to help stretch her fingers - this is ongoing but shes had many nights without them due to irritation on her skin. She had a sleep study at 7 months which showed mild sleep apnea - just needed to be monitored. At 10 months she had a successful operation to remove her extra toe. I'm sure it was painful afterwards but she showed no signs of pain or discomfort! Emily did suffer from constipation in the early months but is under control by giving her 5mls of Lactulose a day.
Emily sat unassisted at 7 months, clapped her hands at 11 months, crawled and pulled herself up on furniture at 19 months. She said MUM at 14 months but doesn't say it very often now. She has recently started to make new noises/sounds which is wonderful to listen to.
We moved to the Newcastle area in NSW when Emily was 11 months as all our family live in and around Sydney. We felt we would need their help and support in the years to come. It was a very hard decision as Perth is a wonderful place to live and we were leaving good friends but in the end, family is very important and we want Emily to know her family.
It's taken a while to get 'plugged in' to the services we require but we're getting there. Emily had another sleep study at 16 months with the results showing she had "severe obstructive sleep apnea". Her tonsils were taking up 90% of her airway and she regularly stopped breathing while sleeping with her sats dropping to 50! She had her tonsils and adnoids removed a few weeks later. Recovery time was about 2 weeks and she definitely felt pain. Her breathing is much better now and she will have a follow up sleep study in a few months.
Her PDA unfortunately hasn't closed so it will need to be done surgically, this will be done later this year. The biggest hurdle we've come across is feeding. Emily has had the nasogastric feeding tube since 3 months of age. A Modified Barium Swallow test she had at 10 months showed she didn't aspirate thickened smooth yoghurt. We were thrilled with this result as Emily was very keen to start eating orally and we wanted her to learn to eat. She handled the yoghurt well but nothing else. The following month we moved from Perth to Sydney and from the day we got here Emily was constantly unwell with colds and chest infections. She had another swallow test at 16 months and to our surprise, we discovered she was aspirating her food after about 8 teaspoons. This was due to her swallow muscles being fatigued. This is why she was constantly sick. She is also a "silent aspirator" giving us no indication the food is going where it shouldn't be. We have since cut back her food intake to 6 teaspoons 2-3 times a day. It's been 3 months since then and she hasn't had a single cold or chest infection. Emily is predominately tube fed and she gets all her nutritional requirements from her formula - Pediasure. She has progressed from yoghurt to custards and pureed food. If we try to give her food which is a bit lumpy, she gags/vomits. Learning to eat has and will be a long and slow process for her. We've discovered she can safely suck on a lollipop which is great as she loves it.
Emily will be having a Gastrostomy (stomach peg) at the end of May to replace the nasogastric tube. She will also have a fundoplication to help reduce her reflux. We realise the peg comes with it's own issues, but to finally have the tube and tape removed from her face after 17 months will be a huge relief. I do wonder, if the Drs had looked more into RTS in the first place and discovered that feeding issues are very common, would they have done the stomach peg instead of the nasogastric tube and saved us the hassles of the tube - the regular tube changes are very unpleasant for all involved especially Emily.
Like all the beautiful children and adults here, Emily is a very happy girl with a smile for everyone. She gets very excited when someone talks to her, especially if you have glasses - she LOVES glasses! She loves playing with her toys and being outside. She enjoys watching Bananas in Pyjamas, Play School and Dorothy the Dinosaur. If I could sing songs to her all day long she would never stop smiling.
Words can't explain the amount of love we have for our gorgeous little girl. We take each day as it comes and at this stage, not think too much about what the future may hold. All we know is that Emily has made our lives complete. If she's happy, we're happy. We're very thankful to our families who help in any way they can and we thank them for accepting and loving our little girl.
If it's after surgery to have an extra toe removed, having many wires stuck to her during a sleep study or enjoying her first ice cream cone, Emilys cheeky smile is never far away. She's a proud supporter of Perth AFL team - Fremantle Dockers and loves our dogs Princess and Neo - especially Princess (pictured).
Danny, Charmaine & Emily Cartwright xxx