In 2017, 14-month-old Harlan Brierley became critically ill with sepsis, secondary to a pneumonia and tonsillitis. His parents suspected he had a PID. Here they recall the story of Harlan’s diagnosis of a very rare PID called ICF syndrome (The Immunodeficiency, Centromeric region instability, Facial anomalies) syndrome.

Our journey to diagnosis was a long and winding road

Born with an infection at 35 weeks, Harlan seemed to catch every illness going. At the age of 14 months, he suddenly became very poorly and required prolonged cardiac and respiratory life support for sepsis. He was eventually discharged from hospital with satisfactory blood test results. Fast-forward to the period between January and July 2020, when Harlan acquired reoccurring respiratory infections. His repeated infections triggered referral to an immunologist.

We were somewhat relieved to have a diagnosis; it was like an umbrella on which to hang all our troubles

We finally had an answer and something to blame for Harlan’s ill health. We could, at last, get some treatment and start to live a more relaxed life.

Harlan’s diagnosis has been very welcome

We know what we are dealing with now. We always suspected something wasn’t right. The series of tests that doctors ordered for Harlan gave us the answers we were looking for.

Since Harlan started weekly infusions and prophylactic antibiotics we have noticed a great change in his energy levels and mood

He is so much happier and looks so much brighter. We are incredibly grateful to have something to protect him and hopefully help him to live a more normal life (whatever normal is).

The PID community has helped us tremendously

We know that we are not alone and, as parents, we appreciate that every child is different. You can get your child through anything. We couldn’t see a way forward to begin with. Harlan experienced severe PTSD owing to all the hospital interventions he needed in the past. Reading some of the stories from other parents and how they coped helped us to move forward and we are finally at a place where treatment is smooth and more accepted. To anybody at the start of their journey into the PID world, our advice is to take each day at a time.

Our wish is that all parents of children with a PID receive the support they need to look after, care for and understand their babies.

Posted September 2020