The story of Charlie
When Malakai was born he was a healthy 8pound baby He was a little blue and had two bumbs on his head but the doctors said he was ok and sent us home. Malakai had difficulties going to the toilet and drinking milk when we was checked by the midwife they said stop breastfeeding and do formula milk because his weight had dropped to 6pounds after a few months of loosing weight, bumps still present on head and pooing difficulties we saw a paediatrician there was development delays and concerns around weight still they said he was ok he got diagnosed with microcephaly and we was told development delays was to be expected! At 7 months Malakai stopped drinking and eating and we was blue lighted to great ormond street hospital where he was diagnosed with Hirschsprung’s disease he had to have bowel washouts as he was so impacted and twisted intestine after a month he had his surgery. At 12 months we had an MRI scan which showed hypoplasia and Ventriculomegaly we was referred for genetic testing. The was a very long process in the meantime the Hirschsprung’s disease was being managed with medication as the surgery hadn’t completely solved the problem with constipation, Malakai was receiving speech and language therapy along with an physiotherapist as he was unable to stand or walk alone. At around 2 years old Malakai was diagnosed with Goldberg-shprintzen megacolon syndrome there was a period where the genetic doctor checked off his symptoms one was his heart. Malakai had a hole in his heart which needed emergency open heart surgery that was the scariest time having your child in surgery for 4 hours and then ICU but they repaired ASD and PDA he recovered very fast and I was so proud of him! Malakai took his first steps after his second birthday and used a frame to maintain balance and gain strength. In total Malakai has 12 diagnoses relating to his rare genetic syndrome but he is the strongest, determined child I know! Nothing holds him back he finds the way to achieve things even if he does it differently. Malakai also has Raynaud’s disease which particularly affects him in his feet but whizzes around in the wheelchair so he can still do what he wants with his sister is amazing!