'Our son is one of 16 kids with this condition. He might not live to Christmas'
Summary
Jack is an 11-month-old boy with a very rare and serious genetic condition caused by a mutation of the PPFIBP1 gene. Only 16 children in the world, including Jack, have this condition, which affects his ability to see, move, and speak. His parents, Amanda and Nick, are seeking other families who have children with this condition to share experiences and find support.Key Facts
- Jack has a rare genetic mutation in the PPFIBP1 gene, making him one of 16 children worldwide with this condition.
- The condition affects Jack's sight, causes seizures, and he is unlikely to walk or talk.
- Doctors describe the condition as life-limiting, meaning it could shorten Jack’s life, but they do not know when.
- Amanda and Nick have spoken to only one other parent, whose child had the same condition.
- Genetic tests revealed that both Amanda and Nick carry mutated copies of the PPFIBP1 gene.
- Jack's three siblings tested negative for the mutated gene.
- Renovations on the family home stopped after Jack's diagnosis, leaving their home partly unfinished.
- Amanda left her job to care for Jack, while Nick continues to work after recovering from health issues.
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