My name is kate & I am mum to Isaac. Isaac has a condition called Coffin Lowry Syndrome which is quite rare syndrome that affects about 1 in every 50,000 children. Isaac is our second child and we didn't know he had this syndrome during pregnancy. He was born two weeks early and initially everything seemed fine, but soon after birth he became quite poorly and was admitted to hospital. He had breathing difficulties and needed oxygen, he was very flippy and was having difficulty feeding and gaining weight.
The Doctors spoke to us and explained that some of his features were a little different, and because he had been so poorly they wanted to run some genetics tests to see if anything came back. He was tested for various conditions but everything was coming back normal, he was referred to a geneticist at the Women's Hospital but it was a long wait before we would see them.
Isaac ended up being in hospital for months while he had various scans and procedures to try and get to the bottom of why he was having difficulties. As you can imagine it was a very difficult time for us as a family. We just wanted Isaac to get better and be able to take him home... but for most of the first year of his little life, hospital was our home.
The geneticist saw Isaac in the hospital when he was about 4 months old. He spent time talking to us and was going to test his DNA for a condition called Coffin Lowry Syndrome. He told us not to google it - but of course as soon as he left the room I did! It was 3 months later when the results were back and it was confirmed, he had the syndrome. The syndrome affects boys more than girls, but generally boys with the condition commonly have low muscle tone, severe learning difficulties, high risk of developing scoliosis, heart problems, breathing difficulties and delayed milestones. When Isaac was asleep his oxygen levels were very low, it was decided they would put him on a BIPAP ventilator when he was asleep to help keep his oxygen levels safe. The BIPAP helps Isaac by delivering pressurised air through a mask into his airways. It was so scary and totally alien to us but we had lots of training in hospital to use the machine, and we were allowed to take him home, YAY.
Nothiong prepared us for how difficult the coming months would be. Isaac didn't tolerate wearing the mask over his little face well at all. He would scream and scream before finally falling asleep. He was also awake so often in the night trying and trying to pull the mask of his face. It was so hard for all of us. We knew he had to wear the mask to help him, and we were told he would get used to it in time, but the sleep deprivation was taking its toll.
Desperate for some respite, we googles to see if there was any help available to us. This is when I discovered Zoë's Place. I got in touch to see if they could help us, and they said they could! We went to look around the hospice, and fell in love with it straight away. The staff were all lovely and made us feel so welcome. Soon after contacting Zoë's Plave Isaac started doing settling in visits.
As children with Coffin Lowry Syndrome are all very sociable and friendly, Isaac naturally loves being around people and LOVES being fussed over by all the nurses and staff at the hospice. This makes it easier for us to leave him there in their care. Isaac has been going to Zoë's Place for respite for over a year now, and always goes in with a smile. HE loves getting stuck into art therapy, playing in the sensory room and rolling around on the soft play area. He has physiotherapy regularly and he gets to use their hydrotherapy pool which he absolutely loves!! He loves the water and it really helps with his low tone.
We have benefited hugely from Isaac visiting Zoë's Place for overnight respite. For two nights a month he gets to have a fun little break and we get to have some uninterrupted sleep and a chance to recharge. Isaacs older brother loves having us all to himself for a couple of days too! We all missIsaac terrible, but we know he is in good hands. We know it is important for us to have some down time too, as it makes us better parents.
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