Isaac was born July 2014 after a easy pregnancy and a very quick labour. He weighed 7lb 9oz. When he was first born the midwife was concerned as he had singular palmer creases, associated with Down’s syndrome. We had to stay in for 48hours for observation as I had Group B Streptococcus and didn’t have time for treatment.
The following day they done blood tests and the results came back negative for Down’s syndrome. We were so relieved and couldn’t wait to get Isaac home. Weeks passed and he was struggling to gain weight, he had bad reflux and couldn’t keep much milk down. We noticed his muscle tone was quite weak but didn’t think much of it.
Our first concern was at about 5 weeks old he had a green/blue poo, the doctor at his 6 week check up wasn’t concerned although we was. He had a follow up at the hospital a few weeks later and it was then that it all began. They ordered blood tests straight away and ordered scans on his liver and kidneys. A week or so later we had a appointment with our paediatrician to say he had a Peroxisomal Biogenesis Disorder and it was life limiting. Our whole world was turned upside down, we had so many questions. Lots of appointments came our way for genetics and we finally got the diagnosis of Zellweger Syndrome.
We took every day as it came and changed his milk to Infatrini to help him gain weight (which he did) and he started getting stronger too. His 1st birthday arrived and he was doing so well the specialists were very surprised, he eats a low phytanic acid diet and loves pasta & noodles! He has a moderate/severe hearing loss but is doing well with his hearing aids. He has taken his first unaided steps at 20 months and loves to now walk around the house. He is the most happiest little boy I know and loves music so he can have a good dance. He has had his fair share of hospital visits for chest infections but apart from that he is proving all the doctors wrong on their expectations.
We love our little boy so much and will continue to raise awareness and support Zellweger Uk to fight this condition and pray one day we find a cure!