Monday, 14 January 2013

Conradi Hunermann Syndrome

Tula was finally diagnosed last year with Conradi Hunermann Syndrome.

You can read all about it here. It's a rare genetic disorder which mainly affects females and was probably passed on by me even though I have no symptoms, or it may have started spontaneously with Tula. We are very lucky to have had such lovely healthy girls so far: if we had conceived a boy in all likelihood he would not have made it full-term: males with this condition are extremely rare and usually very disabled by it.

Luckily she has a very mild form of it and will, as far as we can tell at the moment, be able to live a normal life.

We are going to see a physiotherapist tomorrow to work on her movements to help encourage her to make some progress with her motor skills, as she is slightly slow.

In the past couple of months Tula has suffered quite badly from heavy colds which have meant many sleepless nights for us both as she has had such difficulty breathing. Also a rather horrible stomach bug, but thankfully, she seems to have finally shaken everything off at last, and after a brief but worrying dip in her feeding is now making good progress with solids and is back to her normal, sunny self!

Another recurring problem for her is her eyes; she frequently wakes with her eyelids completely stuck together. I have been cleaning them with boiled water morning and evening, but it's been very traumatic for both of us as she has developed a particular hatred of this routine and screams in anticipation of me touching her eyes. I was using chloramphenicol eye drops, but they didn't seem to have too great an effect.

A friend of mine recently told me that parents of disabled children often go through a 'grieving' stage where they mourn the loss of the perfect baby they had envisaged through their/their partner's pregnancy, and I think I am finally emerging from some of that sadness, which up until now I hadn't properly recognised the cause of.

Tula will never be completely 'normal' (like such a thing exists anyway) but she is such a funny and charismatic little girl I think she will have a long and happy life.

Wednesday, 31 October 2012

RSV and vaccinations v. homeopathy

Tula is coming up to eight months old now and is progressing well. She is markedly slow in my mind, developmentally, as she is still unable to sit up unaided and doesn't roll over either. However, she is alert and strong and very responsive.

We were recently encouraged to take Tula to receive vaccination against RSV (Respiratory syncytial virus); a cold virus which most children catch at some point, often with no problems at all. Some young children are particularly vulnerable however, eg, premature babies and those with congenital heart disease. These children are automatically immunised as a protective measure. Tula wasn't premature and although she has got a decreased lung capacity because of her smaller ribcage, she is not particularly at risk because of that. However, the consultant did say that she may struggle to fight off infections and this is why she was put on the list for immunising.

I have strong feelings about vaccinations. It is a very controversial subject, and I have encountered a lot of vitriol when talking to some people about it. My feeling (and I have researched the subject at length) is that injecting vaccines not only compromises the body's natural immune system by breaching its' first point of defence (the skin) but can have a damaging effect on how the body deals with infections in the future. I would even say that allowing a healthy body to deal with infection as naturally as possible strengthens it. If we had agreed to the RSV vaccination programme, she would have been injected with Palivizumab once a month over a period of six months.

So anyway, none of the girls are vaccinated, and I believe they are healthier and happier for it.

In the last few weeks, Tula has had two severe colds: both times I have treated her at home with homeopathic remedies and both times she has responded really well. This second cold however has hit her a lot harder, and affected her upper airways much more noticeably, with noisy breathing and a loose cough. The illness peaked on Friday when she she was so congested she was refusing to feed (she is still mainly breastfed: showing very little interest in solids as yet), which was very worrying for me and clearly she was quite distressed. Finally I rang the hospital (we have open access to the children's unit) and they told us to come in to have her checked over.

We went in at 6:30 and were seen almost immediately by a doctor who saw her on our very first hospital visit when she was two days old. She checked Tula's breathing and saturation levels, all of which were fine, which meant she was getting enough oxygen to all of her body despite her nasal congestion. Her nostrils were 'Hoovered' with a suction device and she was also given saline drops which made a huge difference as she then felt able to drink a little. By this point, I was expressing with a pump because my breasts were close to exploding! So we were trying to cup-feed her, which she really didn't like, but at least some fluids were going in. The doctor left us, saying that she would sort out some drops for us to take home and that was the last we saw of anyone for the next four hours.

Tula was very distressed the whole time we were in the hospital, and eventually, her temperature started to rise too, so we stripped her off and continued to try to feed her. The nurse gave her some Calpol, and eventually another doctor came back and re-assessed her. He wanted to keep Tula in to monitor her progress overnight and to ensure she started feeding properly, but as she had passed all of their tests and was not dangerously dehydrated, I persuaded him to release us, as I felt very strongly that in fact being in an overheated, strange environment was doing her more harm than good. She hadn't had a temperature until we took her in. So we finally got home at 11pm and thankfully, once we were back, Tula had a really good feed and then slept very well most of the night.

All she really needed was to have her nose cleared and not one of the doctors or nurses even suggested what we could do to help her once we were home.

Luckily, I had already found a really nice homeopath who gave me excellent advice: to use some Karvol at night on her clothes, and also a remedy to help her breathing when trying to feed, and also what to do if her cough becomes croupy (which no-one at the hospital had mentioned). I also have been putting a bowl of water on a heater in our room with more Karvol in it to help humidify the air. Today, Tula is still obviously ill, but sleeping and feeding very well and with no recurrence of her temperature.

I'm still confident that we are doing the best for her by not allowing her to be injected. At a later date, when she is a bit older, we may decide to have homeopathic vaccinations, but at the moment I think she is coping very well.

✳Few people question the idea of vaccination: the majority go with the flow and accept the medical view; accepting also the distress and discomfort that vaccinations cause - along with the myriad possible side-effects. There are many resources online to read about the negative effects of vaccinations and about the alternatives. If you disagree with me, please remember that this is our family's choice: feel free to tell me what you think but please don't waste my time by telling me I'm a bad parent :-) ✳

Saturday, 28 July 2012


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.