If you were to meet Tula for the very first time, she probably would not want you to talk to her or touch her. She would keep her distance, physically and emotionally, until she had sized you up from a distance and decided for herself if you were a good or bad ‘un. Should you try to take her hand to help her navigate a tricky step for example, you would find it gently withdrawn. Were you to insist a second time it would be snatched away and you would lose many hard-to-recapture ‘good’ points.
Tula was born with Conradi-Hünermann Syndrome, a rare genetic skeletal disorder and a type of chondrodysplasia punctata, so named because the ends of young bones have a stippled appearance. Conradi is an x-chromosome disorder: male babies affected by it very rarely make it to full term in pregnancy because it is so severely crippling to them. As a result, the majority of people with the condition are female.
As with many genetic disorders, the condition is wide-ranging in severity and symptoms. Shortened stature along with a difference in limb length between the two sides of the body are the most striking aspects of the condition: very often babies are born with shorter proximal long limb bones, specifically the humerus and femur, the limb bones closest to the body. These bones are also often asymmetric so that the limbs on one side of the body are shorter in length than the other, which can have a severe effect on mobility, particularly at toddler-age.
Along with growth deficiency, other features of the condition are ichthyosis, blepharitis, cataracts, coarse uneven hair growth on the scalp, kidney problems and scoliosis.
Tula was born with ichthyosis: this is a skin condition named for it’s fish-scale appearance. The skin is weirdly textured, with a rough, scaly surface which can harden and crack and easily become infected. After a very simple home-birth in our house in Cornwall, Tula’s appearance caused the midwife to exclaim, almost in horror, at the state of her skin. She was covered with what looked like at first a weird layer of extra skin which on examination had a lacy pattern to it, particularly on her arms and legs. During the initial baby check, the midwife noted a disparity in the length of her legs and that, coupled with her strange skin, led to us being immediately transferred to hospital so that she could be examined by a paediatrician.
During my pregnancy with Tula I was horribly ill. I felt nauseous nearly constantly and some days could barely move because of it, let alone interact with or care for my other girls. Milly, in particular, suffered because of this.Towards my due date I then got a sinus infection which was so severe I could not lie flat in bed and felt as if I was drowning. I couldn’t sleep, I couldn’t eat. It was one of the most utterly miserable points in my life. At one point I remember sobbing at Jude to never ever get me pregnant again, that I would prefer death to the suffering I was in. Hi Elodie!!
So when the paediatrician informed us that we would be required to remain in hospital until tests had been conducted on Tula to ascertain whether her appearance was an indication of an underlying abnormality, I pretty much lost the plot altogether. We stayed on a neonatal ward where the new mothers were forbidden to carry their tiny, needy babies in their arms when they left their rooms; babies were banned from eating areas on the ward and co-sleeping was extremely frowned upon. As I have co-slept with all of my babies, I would leave Tula on my bed to go to the bathroom and come back to find her neatly packaged in swaddling and placed in the hitherto unused crib in my room; I was told I had to leave the door open at night so they could check my baby was safe in my bed; my window was closed if I tried to open it. Because of the ban on babies in the dining hall, I refused to eat and stayed with my baby instead. Eventually I was brought a tray and treated as if I considered myself something special.
I absolutely cannot understand how an idiotic health-and-safety rule can be enforced due a fear of possible litigation in a place where the most vulnerable and poorly babies are most in need of their mother’s constant presence. That the law requires that mothers push their infants in special trolleys in hospital corridors “in case they drop them”. These are babies who are most in need of and benefit most from kangaroo-care.
Eventually, the tests resulted in the diagnosis of CHS and we were mercifully released form the hospital and Tula came home to await further test results. A number of other examinations and investigations quickly followed, including genetic investigations of Tula as well as Jude and myself and in fact the majority of her first two years were spent in hospital appointments as well as appointments with a disability team to monitor her developmental progress.
Pretty early on we started to notice that her spine was an odd shape and that led to the discovery that she had begun to develop scoliosis. We were given the choice of whether to use a plaster bracing technique as pioneered by the visionary Min Mehta or to use a removeable plastic version. Mehta, who suffered from scoliosis herself, believes that early use of the technique of casting a plaster brace to hold the spine in a fixed position can radically decrease the extent of the spinal curve.
Plaster bracing using Mehta’s technique involves stretching and rotating the spine under general anaesthetic into the corrected position before adding the plaster jacket, which is then worn for up to three months until outgrown and then replaced. The restriction of the brace means that the curved spine has no choice but to correct itself as it grows. Mehta’s research has shown that use of this technique can considerably improve idiopathic scoliosis in young infants, particularly so if used prior to the age of two, which is when the bones are comparatively soft and malleable.
Needless to say, we were horrified at the idea of putting our new little baby through this treatment so, because we were given the choice, we opted instead for the removable plastic version and her bracing began a few months before her second birthday. We did eventually also start plaster bracing as well, a few months on. However, during this time in Cornwall the curve of her spine actually worsened. My (unsubstantiated) theory is that because her scoliosis is non-idiopathic, ie it has a specific cause, it is actually far more aggressive than other more commonly found idiopathic types.
Since living in France we have had zero input into her care: she has been in a plaster brace since she began receiving treatment here. The brace is put on her without putting her to sleep: she is placed in a rack and then the plaster wrapped around her whilst she is conscious, with just local anaesthetic. The first time Jude watched her being treated like this he came back almost in tears at the apparent brutality of it. There is no nannying of concerned parents in France: you simply are not qualified to have an opinion. However, in spite of this, I now feel strongly that we should have had her in plaster as early on as possible. Children do adapt and those young, soft bones can be treated far more easily at that early developmental stage.
Tula’s spine has significantly improved since we have been in French care: the curved shape of her back is far less pronounced than we have seen it before. The x-ray shows the extent of the side-t0-side curve of the S and the pressure that her lungs are under.
Tula has been free of any brace for the last week, she has been able to move and flex just like any other child, for the first time probably since she can remember, other than for those single nights prior to a new plaster being fitted, when she has been able to bathe. She has been normal.
This afternoon, Jude is taking her to Caen to have her summer plastic brace fitted. I have spent time talking to her about it, and even though she is unhappy about it, I feel she understands to a certain extent that she has no choice, and that it is to help her back. Even though I know we have no option but to continue bracing her spine, my heart breaks to think about her being put back into her prison. These photos I’ve taken of her over the last few days show how flexible and relaxed she is: she can raise her arms above her head, something she is unable to do in plaster. As well as being more comfortable and able to wear the pretty dresses she adores, she is also able to be independent: she can wipe herself after using the toilet, for example. She is such a capable girl, it is going to be even harder for her to re-adapt to her restricted life again, and it is this that makes me want to cry today, event though at least this time she will be able to be released periodically for bathing and swimming, which will hopefully help her come to terms with it.
So she has gone to see her ‘special lady’ who although she really likes her, she will say nothing to: not a squeak will issue from her mouth. I don’t know how this new plastic brace will fit her, how restrictive it will be or how uncomfortable. I will wait for her return and cuddle her and let her be grumpy and difficult. She has the right at least to express her feelings of frustration. And I will cry a little now at her loss of independence once more so that I will have dry eyes on her return and the strength to support her through this.