wolfhirschhorn.org

Just typing this as a ‘where we are’ with Esme who is 3 years, 4 months. She was 3 months premature so we work on the basis that she is about 3 right now.
 
I have posted a few rare comments and also had email contact with some of you. I spoke (via email) to Kevin O about three years ago about the ‘sibling effect’ as we were planning on adding to our family sooner rather than the planned later when we got Esme’s diagnosis so as to aid Esme as much as we could. Keira came 12 months after Esme and has brought Esme on so, so much.
 
Anyway we live near Manchester, UK and  Esme was born 29th January 2010. She was very premature and 1097g (about 2lbs 7oz). She did extremely well as a pre-term baby and did not need ventilation just C-PAP for part of the day. We got her diagnosis at about 8 weeks in though I had guessed it earlier just from Googling her facial characteristics and a ear tag that she has plus some dropped comments from the Paeds. It was still a shock though to get the formal diagnosis as there had been no indication during the pregnancy scans. As with anyone in this situation the grief was deep, powerful and profound but quickly becoming pregnant again gave us a distraction and a need to focus on both. Finding sites like this helped and hence the ‘pay it forward’ that this post hopes to bring – they were certainly a better help that the consultant who broke the news and said simply ‘..I don’t know anything about the condition but it’s really bad’!!
 
Esme has a micro-deletion, one of the smallest they said they had come across in the north of England. We have the precise deletion in a letter somewhere. It was a new deletion (ie; not inherited) and only showed up on the FISH test.
 
Esme has no organ/heart/clef palate/limb issues. She has the common frontal bossing and a preauricular tag that will be removed in August.
 
She has had no seizures other than a couple of febrile seizures of less than 5 minutes in length.
 
Her global development was extremely slow to begin with. To add to this though Esme was very poorly due to recurrent chest infections from birth. (She probably got admitted to hospital a week for every six weeks for her first couple of years. Infections really hit her hard given her prematurity and small frame. She is still only about 18-19llbs. Increased mobility has meant she has been able to fight off infections and she has not had an admission for about year other than one night last week when she had croup. We have also had prescribed antibiotics for the winter period so that at the first sign of any infection we place her on a low dose. She fought off the winter bugs really well this winter just gone. She does vomit a lot though when poorly as well as teeth grinding. She was quite bad at Easter and vomiting a lot due to a bug but again avoided hospital).
 
She did not roll from back to belly until 18 months old (adjusted to 14 months given the prematurity). She was very resistant to being on her tummy so I home made a taylorbar which is mentioned on the taylor t part of this site. She still wriggled back to her back with this but we figured any movement was good to get those core muscles going.
 
Esme enjoyed being in a pool since being very young and we had access to a great pool at the local school organised by her physio.
 
She had physio, OT, speech and vision therapy since birth and these continue at the special needs nursery that she now attends two days a week. She goes to the pool at this school still. She has bad eyesight but corrected well with glasses.
 
Oral wise she eats a few finger foods and knows to put the spoon to her mouth but is a bit messy yet but tries well. She will also try to brush her teeth and shampoo/bathe herself. She has urinated a few times on the potty at nursery.
 
She now says mammy and dada and grandpa. She waves bye bye and is very vocal otherwise through babble and grunts (yes is a low grunt at this time, like an Elvis style ‘uh huh’). She will point at the TV if she wants something on and this is generally the wizard of oz – she copies the dancing on it by standing against the sofa. She does a fine curtesy at the time when the three young girls on the film curtesy.
 
She also loves copying her sister at everything and fights with her over toys. Esme has a pram that she loves walking her dolly in. She can corner with this really well.
 
She hums a lot of nursery rhymes clearly and loves bashing on the piano keyboard.
 
Back to mobility now. Since beginning to roll from back to tummy she has progressed pretty rapidly to crawling. We encouraged this by essentially blocking off her view of the tv so that once she heard her favourite shows she had to crawl to the side of the erected screen (such as cushions or tent) so as to see the screen. Crawling gradually moved to pulling up to now being happy to walk everywhere with her push along toy walker or dolly pram. She had been like this for a year and just in the last few months she has gained the courage to take those first independent steps and with encouragement now walks across the room though needs to be standing first. She had the skill to walk through my legs the other day and also into an indoor tent we have.
 
Esme can also climb up the ladder leading up to the top of the slide in the garden (about 5 steps) and crawl-climbs the stairs in the house (though doesn’t descend). She climbs on the sofas and low lying tables with ease and gets herself down really well after many anxious months of us teaching her to turn around to do so.
 
The physios have always said that she is on the ‘normal’ development path in respect of mobility but is just doing it on ‘Esme time’ which we thought was nice.
 
She was a star at her Christmas nursery play by walking from stage exit to centre stage without much direction where she looked out to the crowd.
 
As stated progress was very slow for the first two years of her life but has rapidly progressed in this last year or so. We are totally blown away by it but she has gained so much confidence due to her increasing mobility and nursery attendance. She is a well behind Keira who is 2 but well ahead of where we ever thought she would be.
 
I hope that is of interest to other new and old parents out there and apologies for the blunderpuss approach but just wanted to get as much info out there as we could.
 
Finally a recent video of her first faltering steps..