A
three year old girl dancing around our living room with shining hair,
bright eyes, giggling as she enjoys her favourite imaginative game of
pretending to be a fairy! A picture of health - plump body, sturdy limbs
and clear skin.
Our daughter Julia
Remember this...
A day old baby, a tiny six pound scrap with tubes and leads taped all over her body. Vulnerable and exposed in the clinical environment of a neonatal intensive care unit. A baby who cannot feed, cannot pass meconium, and who can only vomit weakly. A baby being prepared for emergency abdominal surgery - only to defy diagnosis.
Our daughter Julia.
Wind the memories on by eight months
To again see a critically ill baby. Hardly able to pass a bowel motion in the two months since she began to eat solids. Distended abdomen with a colon the size you would expect to find in an adult. A veteran of hospitals already after repeated bouts of colitis, vomiting, and refusal to feed.
Two despairing and exhausted parents.
Then a breakthrough at last. Although earlier tests yielded inconclusive results, a repeated rectal biopsy and barium enema finally confirm a diagnosis - short segment Hirschsprungs Disease. We are unsure whether to laugh or cry. Julia goes to the operating theatre for an emergency colostomy, which she will keep for seven months whilst her grossly swollen and infected colon has a chance to recover.
Julia
develops an insatiable appetite. She gains weight rapidly. Within a month
of surgery, she crawls for the first time. She laughs and smiles continuously.
And her bowel works - well, non-stop in fact, but we are so pleased to at
last not have to worry about constipation! There are some problems with
her stoma, probably as a complication of her late diagnosis, but we cope
and avoid being admitted to hospital. We approach her first birthday at
Christmas, at last feeling there are grounds for hope for Julia's future.
Seven months later, at 16 months, Julia undergoes surgery for a Soave pull-through and colostomy closure. It is hard to see our happy and healthy little girl in pain, but the operation goes smoothly and we are home again about a week later. Julia suffers nappy (diaper) rash which we think is severe but which our ostomy nurse tells us is only very mild. We have to watch closely for enterocolitis because of Julia's history with this prior to diagnosis, but by being forewarned we can intervene at an early stage when Julia does have problems. Otherwise, our happy little girl recovers very quickly.
When Julia turns two, she is still having six or more bowel motions per day. We begin to worry about her chances of continence. Searching for support, we discover the Guardian list. With information supplied by listmates, also from our doctors, we adjust Julia's diet, put her on a course of flagyl, and try some natural remedies all of which produce improvement. Then at two and a half, Julia announces she doesn't want to wear nappies anymore. We don't expect her to yet have much control (it had been suggested we delay training until she is three), but she surprises and delights us by becoming toilet trained by day within a few weeks.
Julia
lives a full and energetic life. We still watch for enterocolitis, monitor
her diet, and have yet to coax her out of nappies at night. But in the scale
of things, these concerns are very, very minor!If someone could have told me three years ago that we would have reached this stage, I would not have believed them. Julia had beaten the odds to still be alive at the time she was diagnosed, but she was a very sick baby. Her late diagnosis also complicated her prognosis post surgery. However, today there are no visible signs of this hard start - except for the rapidly fading scar on Julia's tummy which she shows proudly to her little friends! We don't take this position for granted, and even now sometimes when I see Julia enjoying normal childlike activities, I have to pinch myself!
To those of you dealing with newly diagnosed HD, or those suffering complications after surgery, please accept our wishes for strength and hope.
