Saturday, 28 July 2012

Hello

Tula at 4 months, my lovely smiley girl!


I've started this blog to record the progress of my daughter, Tula Belle. She was born at home after a brief labour, the third of three girls. The first thing the midwife who delivered her said was 'Hasn't she got scaly skin?' Tula was healthy and pink, but covered in flaking skin, all over her limbs and torso. It looked like cellophane stuck tight to her normal skin, peeling slowly away. It was the kind of thing you might expect with an overdue baby, but much more extreme.

The day after her birth, she was examined by another midwife, who said that her arms and legs looked a bit short. This, coupled with the appearance of her skin, led her to send us to the nearest paediatric hospital. On arrival there, the consultant who examined her arranged for an x-ray of her chest, as that seemed a slightly funny shape and there was some recession with her breathing (the ribcage dipping in on inhalation). She told us she wanted to admit Tula so that they could conduct some tests on her to try and work out what was 'wrong' with her.

After three days in hospital we were told that she has skeletal dysplasia, which basically means that her bones haven't formed properly (in Tula's case her ribcage and upper arms and thighs). The skin condition was diagnosed as ichthyosis, which, if you Google it (and I DON'T recommend it, as the images they use are of the most extreme forms and are frankly, horrible and disturbing) can be a life-long and debilitating condition in itself. Luckily Tula has a very mild version.

Back home, I started a regime of moisturizing her skin twice a day with liquid paraffin and finally when she was about two months old it had completely gone. It may mean in the future that she'll have problems with her skin, but at the moment she's fine.

As the situation stands at the moment, she has now been seen by dermatologists, geneticists and respiratory consultants, and whilst we are no closer to knowing exactly what her condition is, the general consensus is that she is a bonny, fit baby and is growing healthily, apart from her height. The upshot is that she will definitely be short, but we don't know yet exactly how short she'll be. It's now up to the genetics specialists to examine our family history and her genes so that they can try to establish what she's got so that they can predict more accurately how she will develop in the future and whether they will need to intervene in her growth at any stage - she may well need surgery if she develops breathing problems for example. The plan at the moment is for her to have a full-body x-ray at the age of six months, when the doctors will be able to examine her bone structure more easily. However, if genetics can come up with some answers before then, she won't have to be x-rayed at all.


Her next appointment is 5th September.


4 comments:

  1. ahh, she is just beautiful, and perfect in every way, and really has the most delightful name. Sending all my love and best wishes to the lovely Tula Belle for a bright and healthy future xxx

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  2. She is pure sweetness, I just want to kiss her from head to toe. Much love to you and Tula Belle.

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    1. Thanks Peggy, she is a wonderful girl!

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