Henry is an exceptionally rare boy. He has a genetic condition affecting only 200 people world wide. Only 20 of these are boys! He’s the rarest of the rare.

Henry was born on Christmas Day 2021. We had a smooth pregnancy, with no reported concerns at all. When Henry was born he was taken into NICU within 30 minutes after needing resuscitation and then having seizure like movements. We spent the next 28 days as new parents doing everything possible to keep our baby alive. Four long months later and after more hospital stays we were given Henry’s diagnosis.

Henry has CASK gene mutation, the gene responsible for brain and body development. This gene is X linked and so females have two, males only one. That’s the reason why Henry is so so rare! Most boys don’t make it through pregnancy or childbirth.

On 20.04.22 we met our neurologist and she told us Henry would likely only live a few months. We walked out of the hospital in shock then spent the next few months trying to make amazing memories with our beautiful boy. We spent the autumn and winter months in and out of hospital as Henry battled chest infections, Covid and other viruses.We made it through the winter and now our neurologist has suggested that Henry is stronger than she thought.

Henry has many daily battles. He has two forms of epilepsy, hypertonia and hypotonia as well as dystonia too. He cannot cry anymore due to the effects of his infantile spasms. He is a fighter.

Our lives have been a rollercoaster since Henry’s birth. He has brought us such joy but also such fear too. As he grows and gets stronger we now need to look towards the future. Henry will need postural support at home to help him sit. Physio to help his muscles develop properly. Hen had open heart surgery in August ‘24 to fix a large hole in his heart and a hernia. He is one of the strongest and bravest people I know.

If you are able to support us, we would be extremely grateful.

Thank you to everyone who supports us.

Liz