My daughter was born on 2nd March 1999, a much-loved third child. An early parvoviral infection meant that I had regularly attended the high-risk pregnancy unit for check-ups but ultimately, delivery was uneventful and we were delighted with a beautiful, apparently healthy daughter, who passed all her early developmental milestones without note.
Early alarm bells sounded (very dimly) around her 1st Christmas. It was mostly her failure to crawl which we had been putting down to her being a chubby, contented baby with a lot going on around her; but family members suggested we should approach the health visitor to get her checked out. The concerns were essentially physical (we wondered about her hips) but with hindsight we can now appreciate that she was ‘on the verge’ of doing things but never quite got there. The health visitor was reassuring but referred us to a community paediatrician to put our minds at rest. However in March 2000 the community paediatrician was the first professional to raise serious concerns, with a suggestion that there may be more to it than just motor problems....
Immediate panic set in and we were very fortunate to be spared a 6-week wait with a cancellation appointment to see a consultant paediatrician at the hospital the following week. Our feelings of ‘not belonging’ in the waiting room, or it all being some kind of mistake, soon evaporated when, after a brief consultation and examination, she dropped her bombshell: in her opinion our daughter would have severe learning difficulties. The bomb was dropped with great compassion but even so, the shock was enormous, verging on physical, in its effects. We were given 3 weeks to take it in before going back for a follow-up, at which we fully expected her to say it was all a mistake, but she didn't, and from then on we were swept onto a bewildering merry-go-round of tests, hospital appointments and assessments, one part of which was genetic testing.
Some early tests (e.g. Prader-Willi; Angelman’s) were run on initial blood samples but when these drew a blank we were referred for more specialist investigation to a consultant geneticist. The first step was a home visit by a specialised nurse. She came to our home to take a detailed family history and on meeting family members, she may have got more than she bargained with, being regaled with tales of in-laws, out-laws and numerous ‘black sheep’ in the family, backed up with a mountain of photo albums!! Her visit stands out as a happy, comical episode in an otherwise very bleak time. We then saw the geneticist in clinic, who, having reviewed the clinical history, came up with a new potential diagnosis of San Filippo syndrome. This was completely devastating: we did an internet search at home that night and the first ‘hit’ brought up information about support groups for bereaved parents. However the symptoms didn’t seem to fit and fortunately the test results were subsequently negative.
My daughter’s case was put on hold. Meanwhile, things were actually going backwards: she was losing what speech she had, and also became withdrawn, irritable and often inconsolable for long spells. She would bite her hands furiously to the point of injuring herself and needed to wear arm splints.
The diagnosis came out of the blue one day in November 2001. A new diagnosis had occurred to my daughter’s paediatrician over the summer months and she had arranged to test a stored blood sample for Rett syndrome. She telephoned to advise us of the possible new diagnosis and arranged to see us in clinic the following week to discuss the results. This time when we went on the Internet there was a loud ‘clunk’: the symptoms described my daughter’s perfectly and so when we went to the appointment, it was not a shock to learn that my daughter did indeed have the relevant mutation, but a huge relief: we had our answer and knew what to expect. We were put in touch with the RSAUK and gradually started to come to terms with what this would mean for us all. The cruellest phase of regression seemed to be over, and my daughter, though by now completely dependent, seemed more content in herself and her beautiful smiles returned.
We were recalled by the geneticist for a follow-up to discuss the pattern of inheritance and possible implications for our other children. The affected gene is on the X-chromosome and in the vast majority of cases; the mutation arises spontaneously in the father’s sperm. This means that cases occur ‘out of the blue’ and that my daughter’s brother and sister were no more likely to have a child with Rett syndrome than anyone else in the general population. However, very rarely, a family may have more than one affected child and so, although we didn’t want any more children, I had a blood test to check for carrier status: it was negative.
So what were the good things about the process of our ‘genetic diagnosis’?
? The majority of health professionals we’ve encountered have been excellent: my daughter’s paediatrician in particular stands out as caring, concerned and importantly treating us parents as partners in a difficult process or journey.
? The concept of the home visit by the specialist nurse is excellent: whether the information gathered was actually useful or not, it certainly helped to personalise a potentially daunting hospital appointment at the clinic.
? Having all the steps in the process explained is vital: it doesn’t minimize the difficulty of waiting or uncertainty but it’s important to feel as though you are involved as parents.
? We consider ourselves ‘lucky’ to get a diagnosis: it was a turning point for us in terms of acceptance/coming to terms with our situation. Not everyone is so fortunate…
And the not-so-good things?
Sadly not everyone we’ve met has operated to the paediatrician’s high standards. A couple of memorable quotes stand out. The first was actually addressed to a physiotherapist (as if I wasn’t even in the room!) by a doctor, called in during a session to look at my daughter’s fingers, which seemed to have locked in a flexed position "in developmentally dysmorphic children without a diagnosis we frequently see skeletal abnormalities"! And the second, by an ophthalmologist delivering the good news that my daughter’s vision was normal: "so you can cross eye problems off your list" This was, no doubt, well meant, but to someone on a medical merry-go-round and unsure of a final diagnosis, it was extremely tactless. Parents undergoing this kind of protracted trauma are extremely fragile and should always be ‘handled with care’.
Fear. The idea of a genetic disorder was deeply frightening. There seemed to be no, or little, hope of treatment; it might be potentially life threatening or degenerative, or have implications for the other children as they grew up.
Be careful with tentative diagnoses: parents can be well-(or mis) informed at the click of a mouse these days!
The agony of waiting just can’t be explained to someone who’s not been through it. In the end we were particularly fortunate that the confirmatory tests were done on previously drawn blood samples and we only waited a week for a result. Not everyone is so lucky and many families wait months.
One piece I discovered early on in my Internet searching was ‘Welcome to Holland’ by Emily Perl Kingsley and I would like to recommend this to anyone trying to help, and empathize with, families like mine.
And once you do reach a point of acceptance and start living again, you can even make it to Italy on occasions!
My daughter is now ten and although completely dependent on others for all aspects of her physical care, a happy and sociable little girl. Her knowing gaze speaks volumes and she can gain people’s attention whenever she wants. She enjoys school, swimming, riding for the disabled and even regular ice-skating sessions in her wheelchair! Her pleasures are simple: the company of family and friends; food; her swing in the garden, and all kinds of music.
As to the future, it’s hard to contemplate: we try to live each day as it comes. People with Rett syndrome can live into their 30’s or 40’s, but tend to have progressive problems with breathing irregularities, seizures, feeding difficulties and scoliosis; a few die suddenly and unexpectedly from heart problems.
Knowing and loving my daughter has changed us all: our old lives seem a world away.