Janine’s Story – United Kingdom

One of my earliest memories is walking through my local children’s hospital with my mum and dad. It’s a happy memory, but I could always feel an undercurrent of anxiety surrounding each hospital visit. I knew I was a twin (my brother Adrian passed away at 6 weeks old). 

We were induced at 37 weeks as Iwasn’t growing properly and during delivery my brother struggled breathing. Calcification of his coronary arteries was causing insufficient blood supply to his heart and he suffered a number of heart attacks. We were both found to have calcified arteries however mine were not as badly affected as my brother’s. Doctors gave my parents a medical paper to read about our diagnosis of Generalised Arterial Calcification of Infancy which highlighted the rarity and severity of our condition.

As a child, I had regular hospital check-ups and scans to ensure no new arterial calcifications were developing.  My parents had tissue samples sent to Germany which confirmed they were carriers of a rare gene mutation, and that both of these faulty genes had been passed on to myself and Adrian, causing us to be affected by GACI.  I have a younger sister who is luckily not affected.

At around 9 years old, my dance teacher noticed I was struggling to stand with my legs together (due to bowing of my femurs). Blood tests and x-rays confirmed I had developed rickets. Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) is now known to be associated with GACI but at the time it was all a bit confusing. Throughout my school years, I was very active and regularly attended dance and swim classes and cheerleading competitions. I started taking calcium supplements and the bowing in my legs reduced so that surgery wasn’t required. I was also found to have a congenitally fused cervical spine (again associated with GACI). During childhood as my arteries grew, the calcifications within them became less significant and thankfully no new arterial calcifications developed.

In 2017, I was lucky enough to be invited to the National Institute of Health in Bethesda by Dr. Carlos Ferreira. I flew over to America with my parents and for the first time ever, discussed GACI with a doctor who understood this ultra-rare condition. I was in my late twenties and it felt surreal to finally have my questions answered! I had a number of diagnostic tests carried out and now see an ophthalmologist and attend a dental hospital for associated findings linked to GACI. I also regularly see an endocrinologist to assess the progression of the ARHR2 and to discuss any changes to my medication (I still take phosphate supplementation).

ARHR2 causes bone pain as well as joint stiffness caused by calcifications known as calcific enthesopathies which build up around tendons. Anti-inflammatories, painkillers and rest can help alleviate these symptoms. I work in a hospital as a radiographer and have always enjoyed studying and feel that GACI and ARHR2 has not held me back. Due to the ARHR2 I am small in stature and do experience bone and joint pain but manage these when necessary. I try to remain active and feel that Pilates and yoga helps to reduce joint stiffness.

I am one of the oldest known patients with GACI and ARHR2 and I’m always happy to answer any questions