Margaret and Seamus Doherty
Megan 12/09/87 – 17/04/00
Patau’s Syndrome – Translocation
It’s now eight years since our only daughter and fifth child died. Our lives have entered a new phase, a more lonesome one as we no longer have a baby in the house and our sons have grown up and are moving on. Megan was born on the 12/9/87 two weeks early with no pre-warning that there were going to be problems. She was rushed from Enniskillen to the neonatal unit in Derry and then on to the Royal Hospital for sick children in Belfast within 24 hours. She was diagnosed with a heart condition and needed careful monitoring for a few days. Although her heart problem wasn’t a major one, her other problems were becoming evident to the staff, but Seamus and I were blissfully unaware of these as all we could see was this beautiful baby girl.
When she was discharged on her sixth day the cardiologist said, out of the blue to me, that Megan had a chromosomal disorder and that it was life threatening and we’d need to see a geneticist very soon to find out all the details.
We took Megan home and very soon realised all her problems. She had her tightly closed fists, with her thumb across her palm, small cists on the back of her head, glaucoma and cataracts on her eyes, high palate which left feeding a major problem, vomiting a few times everyday. She cried a lot due to cerebral irritation and soon started taking apnoea attacks. We met Professor Nevine a geneticist in Belfast when she was two weeks old. He said he had never seen Megan’s pattern of chromosomes before in his life. She had two normal 13 with ¾ of a third 13 on top. She certainly had a lot of features of Patau’s syndrome but he didn’t know what the future held for Megan as he hadn’t seen her pattern before then. Seamus and I were tested and our chromosomes patterns were normal so there were no reasons to suggest the boys had anything abnormal in their pattern. The fact relieved us but it didn’t help us with Megan’s condition.
Her first year of life was very hard for her and for us. Megan had four eye operations for glaucoma and to remove her cataracts which revealed these gorgeous keyhole shaped brown pupils. Her “blue” attacks got worst developing into true epilepsy. On two occasions I give her mouth-to-mouth resuscitation. Her feeding was a major problem with a lot of vomiting and a constant battle to keep her nourished. She couldn’t cope with a spoon-feed. She rarely slept more than two hours and cried a lot. During this time she was under the care of Dr. Des Brown a paediatrician in Derry who was an enormous help and support to us. With a lot of trial and error we eventually got a combination of medications that helped to control Megan’s fits and irritability, Megan’s quality of life improved with better sleeping and eating.
There began a pattern which we kept for 12 years. Our first waking thought was Megan and our last act at night was to bring her to her bed in our bedroom. She moved on to tube feeding when she was four years old. Mentally her development was extremely slow though she smiled at about a year old and learned a “clicking” noise with her tongue. She sat for short spells in a specially adapted chair but her favourite position was to be nursed on your knee.
Despite her many admissions to hospital (approx 40) for treatment for chest and kidney infections, she had spells of good health and when Megan was happy and well life was very good. She taught us that good health is all that matters to be happy. There was never going to be the right time to let Megan go and when it came it was very hard. We are grateful we had her for 12 ½ years and were able to look after her with a lot of help at home. We believe now that she helps look after us!.