Matthews Story
Journey to Diagnosis
Matthew was born (05/04/94) on Easter Tuesday 1994 at term +6. It had been an uneventful pregnancy, but when my waters broke they were meconium stained, meaning baby was distressed, so we rushed to hospital in a panic. He was born early the next morning and had to be intubated to start him breathing. He was handed to me briefly before being whisked off to special care – he was pale and grunting. When I finally saw him again, a few hours later, he was in an incubator with various tubes and monitors attached. He weighed 8lb13 so looked huge surrounded by all the premmie babies in special care. Drs had observed he had wide spaced nipples – but I didn’t have a clue why they felt that to be important. We were told that he’d inhaled meconium but was breathing on his own and it was likely there would be no lasting effects.He spent 4 days in special care and a further day on the normal ward with me. He had a stridor when he cried, which worried me, but my main aim was to get him out of the hospital and home. He failed his hearing screening test, but I wouldn’t allow them to do a further test – I felt I couldn’t cope with any more bad news. Matthew came home when he was six days old. He had problems latching on to feed and I was using a nipple shield which seemed to help. He needed feeding almost constantly though – and wasn’t gaining as much weight as he should. The midwife, then health visitor told me to persevere – breast is best – so I did. At his six week hospital review, the Dr said he was floppy and wanted to run some tests. They sent us for bloods and I saw “Prader Willi” on the form. When I got home I was beside myself with worry, so phoned our local genetic clinic to try to find out what it was. They saw us the following week with the results – Matt didn’t have Prader Willi but they felt there was probably “something going on”. Matthew’s paediatrician said he probably had some trauma from the birth and “he certainly seems very bright”. At around 10 weeks, in desperation with his slow weight gain, I bought some formula from the chemist and started to bottle feed him. He struggled to get any milk from the bottle so we had to make the hole bigger – finally he was drinking and that week he gained 8oz. When Matthew was 3 months old, I took him to visit my parents in Australia. My partner was to join us 3 weeks later and we were to marry there. We also planned for Matthew to be christened there, along with my sister’s daughter. The day before his Christening Matthew had a series of afebrile convulsions, which were terrifying. He was admitted to hospital. The following day I tried to get permission to take him to Church to be christened. The Dr said she needed to know whether he was “always like this” or was it a result of the fits. I didn’t know what she meant. She referred to his tongue thrusting and hypotonia – I’d always thought it was cute how he poked out his tongue. She said he obviously had some brain damage. In the end she did allow us out of the hospital for 4 hours for the christening. He was discharged a few days before our wedding on anti-convulsants. We were instructed on how to use rectal diazepam in case he had a fit on the flight home. Back home, an MRI was arranged – no abnormalities detected. Further tests followed over the following years: chromosome analysis, skeletal survey, skin biopsy, 22q, Fragile X, MPS, Williams syndrome…with each test, I’d think maybe we’d find the answer, but each result came back negative. Matthew was given a “diagnosis” of hypotonic cerebral palsy and severe speech and language delay and global developmental delay. He also had moderate hearing loss. He was weaned off the anticonvulsants when we got back from holiday and had only a few febrile convulsions after that. Matthew had portage from around 6 months old and started at a school for children with severe learning difficulties at age 2.5 years. At around this time he took his first few tentative steps, with the help of Piedro boots. By age 5 Matthew was starting to say a few words, along with Makaton signing and we decided we’d like to try mainstream education for him. His school was very supportive, and our local infant school, where Matt’s sister had just started, were happy to have him with appropriate support. In January 2000 Matt started in mainstream school with 30 hours per week support. He dropped down a year to reception, the same year as his sister. His language came on in leaps and bounds, and for awhile there he seemed to be catching up, but Junior school saw him slipping further and further behind again, and we made the decision to transfer to MLD school for secondary. Matt is now 13 years old and is in Year 9. He loves his school and his confidence has blossomed there. He is happy and sociable most of the time, although he does suffer from some anxieties and needs reassurance from time to time. He has moderate/severe learning difficulties. We continued to see genetics every few years, and last year they mentioned that a new test was being introduced which could look much more closely at chromosomes. They asked if we’d like Matt’s bloods tested when the tests were available and we agreed. The test was called CGH array. Roll forward to last November when I received a letter from genetics to say they’d found a small deletion on Chromosome 17. The letter enclosed bloods forms for my husband and I to confirm the possible diagnosis. On 3rd January it was confirmed that Matt has a deletion at 17q21.31. My husband and I have neither the deletion or any translocation which might have caused it so it is “de novo”. What a shock! Little is known as the deletion has only been discovered in the past year, but the other children identified seem to have similarities with Matt.
We are pleased to finally have an answer, and I feel that these tests will lead to answers for many more undiagnosed children and adults.
Submitted by: Matts mom-(del) 17q21.31