Surgery postoned from Mon 4th to Wed 6th

Just by 2 days but for those of you who have contacted us to know how it all went yesterday......it didn't!

The private hospital pulled out at the last minute, a bit nervous of our little munchkin's needs. They thought she'd be better off in a childrens hospital, more able for her needs. So she's been bumped up the list and she is getting it done in Starship (the childrens hospital) under the public system on Wednesday morning...tomorrow.

Will be in touch. Thanks for all the good wishes and prayers x

9 months and counting!

Well Ashling was 9 months a few days ago, and her latest party trick is that she's saying 'Dad Dad' though she has no idea what she is saying. Dad is delighted all the same. She is also starting to clap her hands. The Nanas are responsible for this trick!

Despite being a bit weak and low in energy in the last week, she's generally in great form since she recovered from that nasty spell a few weeks ago (about a month of sickness). Friends of ours were round recently and knocked some great giggles out of her. It is worth looking at. http://www.youtube.com/watch?v=2g-AgR2TKrY. Just a quick note for those of you with a slow connection, you need to let it load first for about 30 seconds: you'll see a pink line moving along underneath it, ahead of the video. If you’re not sure how to do this, just pause it and let it load, then work away. Otherwise, it will keep starting and stopping for you.

Anyway, just wanted to get you up to speed with Ashling's progress: We tried taking the tube out for 4 days and letting her get as hungry as possible. It was all very stressful to be honest cause there was so much pressure on. Unfortunately, as much as she showed an improvement in oral feeding than when the tube is in, she just couldn't take in enough milk to sustain the energy she needed to continue. It was a bit of a catch 22 - starve her so that she would feed, but with little food and low energy, she got tired after 5 minutes and wouldn't feed much after that. The good thing about it all is that we are now very confident that she will feed long term, when she has enough strength and stamina to do so because she showed a lot of interest and capability.

The other thing that we've discovered is that it seems to be the tube that’s been causing all the excess mucus and spillage. During the time that the tube was out, Ash didn't get sick much at all. So the next step from here is for Ashling to get a mickey button (a gastrostomy). We went to see the surgeon and there's a 6 month wait on the public list. Luckily, Ash is covered privately so we're actually getting it done next Monday (4th of August). Ash will be in hospital for a few days after it.

Hopefully, she will do much better with the mickey button as she will be able to eat as much as she likes orally, without the gagging feeling of the tube hanging down the back of her throat. We're really hoping that she won't need it for more than a year or two. If you want more information on her gastrostomy, have a look at the following link. Ash will be getting the balloon device mickey button. http://www.ich.ucl.ac.uk/factsheets/families/F000380/

Well that's about it for now. Over and out xxx

A Thundering Rogue

Our munchkin is turning into a bit of a character. It's amazing how babies know exactly what they do and don't want. Ashling is so stubborn. She is very keen to put her thumb in her mouth in conjunction with whichever toy she's playing with. They have to go in at exactly the same time! This can be very tricky, as you can imagine. But as soon as we try to help her, she gets all grizzly and tries again herself, ending up highly frustrated if she can't achieve it.

She's also doing the whole thing of being perfectly happy in her cot until she hears me quietly sneaking into her room for something. Then suddenly it's "Waaaaaaahhhh" as if she's miserable. Kids! They start the messin very early. She's a thundering rogue already and has both of us wrapped round her little finger.


Nothing much has changed, although she's much more alert and active with her hands and legs. The Orthopedic surgeon is going to inject botox into her legs the week after next (no there's no free samples for Mammy's forehead!). What this will apparently do is that it will temporarily immobilise her quadricept muscles (front of thigh) and so she will have to use her hamstrings instead (back of thighs). The idea is that the muscles at the back of her legs will get stronger and this will hopefully allow her to extend and straighten her legs properly. Fingers crossed that it will work!


One of our main concerns at the moment is that her weight is quite poor, she is tiny -about 14 lbs. We've been trying everything to fatten her up but she's not gaining much, mainly due to the fact that she wont take much solids and she still throws her milk up from time to time. This is frustrating the life out of me to be honest cause she's doing so well in other ways, but I'd love to see her a bit more robust! We've just started giving her a supplement which will hopefully help to fatten her up so fingers crossed on that count too.

Otherwise, she's still on oxygen and she still has a feeding tube. We're hoping to try taking her feeding tube out for a while to see if she would take more without the tube down the back of her throat! (wouldn't you!). The idea is to take it out and hope that she'll get hungry enough to feed properly (over time) But she will ultimately lose weight in the process so we're waiting till she has a bit more reserve.

Well that's it for now. She's 8 months today!!! Can't believe it.

Can you believe it? 7 months today!!!! 27/05/08

The time is flying by with our busy lives and this little munchkin taking up so much of our time and our hearts!

Not a lot has changed since the last update other than the fact that Ashling is getting stronger and she doesn't seem to be getting sick near as often anymore. Thank God for that cause our house is destroyed. I really feel for other parents with refluxy babies cause the carpet is never the same again!

Besides that, Ashling is giggling sometimes (a bit like a Beavis and Butthead type of giggle but it's a giggle all the same - see the video attached for evidence! - http://www.youtube.com/watch?v=-UhqZcSivMs). She absolutely LOVED having her Grandparents out from Ireland and has been sulking since they left to be honest. She really enjoyed all the love and extra attention that she got from them and we're not getting half as many smiles since they returned to Ireland. I'm sure she'll perk up again in a few days. We had a fantastic time with them. They spent 4 weeks with us and we did a bit of travelling with them and Ashling was very well behaved; she didn't give us any cheek along the way!

While on our holiday, we discovered that, like her Mammy, Ashling loves spa baths! There was one in the place we were staying in Taupo and she had great fun in it. See the other video attached and watch her kick those legs. Please ignore my nudity (Yeah right!) See http://www.youtube.com/watch?v=HEJ_FwZPoHU

Otherwise, same ole same ole, she's not making much progress with her feeding, and she is still on oxygen and wearing splints on her legs for about 23 hours a day. She's in great form though. See http://www.youtube.com/watch?v=XtJl9-cF20s

Over and out. Thanks for continuing this journey with us. xxxxx

Getting Ready for to meet her Grandparents!

Well Ashling is 5 and a half months now. She's getting noisier by the day, as said before, much like her Auntie Brenda (ha ha!).

She's doing alright, we have good and bad days, like any other baby. Her lungs seem to be much stronger but she still requires the oxygen for a bit of a boost. She spent a few days in hospital the week before last to have tests done trying to figure out what's causing all this excess mucus that she's struggling with. Unfortunately, they didn't find the cause of the mucus but on a positive note, it looks like her lung has reinflated nicely and she appears to be breathing a lot more comfortably now. Hopefully when she stops struggling with this mucus, she should be able to come off the oxygen. It could just be the tube down her throat that causing her mucus - anyone's guess at this stage!


She's getting clever now - starting to kick u a bit when she feels like it. Not often but boy, they learn pretty fast how soft the parents are. We are trying to harden up, but its bloomin hard!

Our biggest issue continues to be feeding. She has gotten used to wearing the splints all the time and she's starting to get quite good at all her stretches and exercises. However, when it comes to feeding, a lot of distraction is needed!!! She still only tolerates a small amount in her mouth before gagging. We are totally reliant on her nasal gastic tube to give her 99% of her feed. We dont think this is necessarily related to Escobars Syndrome, it is most likely because of the fact that she couldn't feed for so long in the hospital because of the incumbersome oxygen device she was on, so she never learned how to feed properly. In addition, most of the time that she was in hospital, she was being suctioned daily down her nose and in her mouth to get rid of excess secretions. As a result, she's very screamish about her face and has negative associations with both her nose and her mouth. Its so difficult to break this, though we're trying very very hard and getting fantastic help from medical staff (who have been amazing).

So if you get a chance to say a wee prayer for our litle munchkin, please direct it to her feeding! We would really appreciate it.

Ger's parents are arriving in a few days from Ireland to meet their first grand-child (though there's another gorgeous one since). They will be staying with us for a month and Ashling will be going on her first holiday (to Taupo and Roturua) while they are around. Woo Hoo.

Lots of love xxxx

4 months old now and starting to make sounds...

Well our munchkin has hit the 4 month mark. Can't believe it. In some ways it feels like she should be 16 years old because of all that's happened but in other ways, can't believe she's 4 months old already! She'll be moving out of home soon!

Ashling is feeling a bit better these days. She's had a very tough few weeks with reflux, oral thrush and then a throat infection - all connected in different ways. We think we are finally turning a corner as she hasn't been as sick the last few days. I have fully weaned her off breast milk in the last few days and she is taking formula now, one for babies with allergies and that seems to be staying in her tummy better than the cow's milk one. She is also on reflux medication and this is helping too I think (But it also seems to be constipating her!).

Things are starting to calm down a wee bit, many of her appointments are becoming fortnightly instead of weekly, which is a really good thing cause her secretary has been starting to get really tired and grumpy! Hopefully, over the next few weeks I'll be able to start getting back in touch with some of you and get some sort of a routine happening. I'm craving one.

Ger is doing really well. His way of getting through the tough times over the past few months was to exercise and he did a standard triathlon. He's as fit as a fiddle. Don't know how he does it all. Anyway, I'm looking forward to getting stuck into a bit of decent exercise myself over the next few months.

Back to the most spoilt girl in the Southern Hemisphere - Ashling's doing a bit of cooing and some more smiling these days and melting our hearts with it. She was so noisy trying to chat to Ger the other night, that I had to kick the 2 of them of the room cause I was trying to watch Grey's Anatomy (about the only programme I watch during the week).

It's really fun listening to her though. It's like she found her voice overnight and now she won't shut up. Really reminds me of someone......no, not me! Her auntie Brenda of course.

Gosh, babies are pretty cool I have to say. Despite all that's happened, we have no regrets whatsoever, that's for sure.
We will upload some more photos tomorrow. xxx
Take Care xxxx

A Diagnosis for Ashling....finally!

Just wanted to let you all know that Ger and I got news during the week about Ashling. They have finally been able to diagnose Ashling’s syndrome. It will take a few minutes to read this, so make a cup of tea and relax or read it later when you have time.

Ashling has something called Escobar syndrome (also known as Multiple Pterygium Syndrome), which is a very rare disorder. In fact, there are only between 50 and 100 cases in literature, as it was only discovered a few years ago. The genetics team had mentioned this syndrome to us before but they weren’t sure as they have never actually seen a case of it, just read case studies. They sent Ashling’s DNA to Germany for testing and we have been waiting for a result for the past few months.

The main cause of Escobars Syndrome is an auto-recessive gene, which comes from both parents, so both of us are carriers. Apparently we are all carriers of about 7 potential recessive genes like this, but it is extremely rare that 2 people meet and have the same recessive gene. The chances of this happening are about 1:40,000!!!(Unless you’re related…which we’ve been asked many times!!!). But this means that one of both of our sets of parents is also a carrier and there’s a 25% chance that all of our siblings carry it (that’s you guys). But obviously the chance of you meeting or having met someone else who has it is the same, 1:40,000!

The general prognosis for Escobars is quite good. The way it affects the baby happens in the womb because the baby doesn’t develop a receptor which tells the limbs to move. That’s why both Ashling and Ciara were so quiet in the womb. Then in week 32 of the pregnancy, babies develop adult receptors and these take over. That’s why I felt more movement towards the end of the pregnancy and consequently felt that the Dr’s worries about Ash, were wrong.

The syndrome affects the baby in a physical manner but doesn’t affect the intellect. The features of Escobars are wide-ranging and its severity can range from mild to severe. Thankfully, the genetics team believes that Ashling falls on the mild end of the spectrum, and should have a relatively normal life, though “she’ll never be an Olympian”, according to the Doctors. But only time will tell as Granddad O’ Shea is still looking for a champion javelin thrower!
What it means for us is that we have a name for her syndrome, which means something I suppose. It also gives us a little bit of a guideline regarding any potential problems that she could develop and that we have to watch out for. It also means that we will have some options if we try to have another child, as we could be screened to avoid this happening again. There is a 25% chance of this happening again so we will have to get some fertility counseling, when the time is right.

Anyway, back to our gorgeous little girl…we are quite pleased to have a diagnosis but are a bit shocked all the same. Even though life is full of the unexpected – we never expect these things to happen to us, eh!

I’m sorry that we’ve put this on the blog and not getting to tell you personally. When we see or speak with you, we’ll explain it all better and answer any questions you might have. If you want to know more about Escobars, there’s some information on the internet. However, I can safely tell you from experience that most of it doesn’t really relate to Ashling as it describes more severe cases. We wrote away to the National Organization of Rare Diseases and paid to get a formal description of it. I am adding that description for you below as it will be a more objective reference for you to read (that is for those of you who might want to read more about it). If we get more information from the genetics team, we will post it on here too.

Thanks for taking the interest in reading this.

Love to you all,
Caroline, Ger and Ashling xxxxx

Synonyms of Multiple Pterygium Syndrome:
Escobar Syndrome
multiple pterygium syndrome
pterygium colli syndrome
pterygium universale

General Discussion: Multiple pterygium syndrome is a very rare genetic disorder characterized by minor facial anomalies, short stature, vertebral defects, multiple joints in a fixed position (contractures) and webbing (pterygia) of the neck, inside bend of the elbows, back of the knees, armpits and fingers. Multiple pterygium syndrome usually follows autosomal recessive inheritance but can also follow autosomal dominant inheritance.

Symptoms: Multiple pterygium syndrome is a very rare disorder characterized by permanently bent fingers (camptodactyly), short stature, rocker-bottom or club feet, joints that are bent in a fixed position (contractures), union or webbing of the skin between the fingers (syndactyly), and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits. The webbing of skin and contractures of the joints that are found in this disorder may restrict movement.Characteristic facial features can include a small jaw (micrognathia), a long vertical groove in the middle of the upper lip (philtrum), down-slanting eyes, a vertical fold of skin over the inner corner of the eye (epicanthal folds), drooping eyelids, low-set ears, cleft palate and down-turned corners of the mouth. Backward and lateral curvature of the spine (kyphoscoliosis) and spinal fusion abnormalities occur often in multiple pterygium syndrome. Other skeletal anomalies include rib fusions, hip dislocation, abnormal ear bones and absent or malformed kneecaps.Males may have undescended testes and an abnormally small penis. Females may have underdeveloped or missing labia majora..

Causes: Multiple pterygium syndrome usually follows autosomal recessive inheritance but can also follow autosomal dominant inheritance.Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females. All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child..Affected

Populations: Multiple pterygium syndrome is a very rare genetic disorder that affects males and females equally. There have been approximately fifty cases of this disorder reported in the medical literature. Multiple pterygium syndrome has been found in Germany, France and England.

Standard Therapies: Therapy is supportive and depends on the severity of the webbing and spinal abnormalities. Orthopedic specialists should be consulted once a diagnosis is made because scoliosis develops before age five in most patients. Affected individuals have an increased risk for developing pneumonia due to a small rib cage so respiratory infections should be treated promptly. Patients with multiple pterygium syndrome may benefit from plastic surgery in the areas of webbing. This must be done with extreme caution as there may be major nerves and blood vessels in the area that are too short to allow for full extension of the limbs. Plastic surgery may also be performed to improve fused fingers and correct the cleft palate when present. Physical therapy can be of benefit to help in preventing the joints from becoming fixed.Drooping eyelids can interfere with vision so an ophthalmology specialist should be consulted. Hearing testing should be done because of an increased risk for conductive hearing loss. Genetic counseling may be of benefit for patients and their families.

Report last updated: 2004-06-15