Laura’s Story – Italy

ARHR2 – Autosomal Recessive Hypophosphatemic Rickets Type 2

Laura: “At the age of 13 I had already had 7 leg surgeries.”

The patient tells her story: “The psychological aspect of the disease was the most difficult to bear. I’m still struggling to accept with my scars.”

Laura’s story began at the age of about one year when her parents noticed that she struggled to walk because her legs tended to bend: the first movements and the stability were limited. These were the alarm bells of the autosomal recessive hypophosphatemic rickets type 2 (ARHR2), a hereditary disorder characterized by low phosphate levels in the blood, resulting in the development of bone problems. Other signs of this form of rickets consist of widespread pain in the joints and bone fragility, with increased risk of fracture. “The short stature is one of the typical hallmarks of the disease but, since childhood, I’ve always been on the 50th percentile for height because my mum is tall. This made the diagnosis even more difficult”, explains Laura. “Moreover, the fact that the first teeth started to appear only after 13 months led doctors to do further checks which, over the years, have highlighted the need of some corrective surgeries”.

In Bergamo, at the age of 4, Laura received a first diagnosis of hypophosphatemic rickets, however, in the mid-nineties, the level of information on different forms of the disease was lower compared to today, and modern genetic analysis techniques were not available. “I underwent a right knee osteotomy operation before 6 years of age and then I had my first of the 7 surgeries based on the Ilizarov method”. This technique, designed to lengthen and straighten long bone, is named after its inventor, the Russian surgeon Gavriil Abramovič Ilizarov, and it consists of an apparatus, the ring fixator, composed of an assembly of metal rings applied to the bone. A series of metal wires run through the bone and using connecting rods, the distance between the two bone ends increases. The gradual distraction allows the growth of the bone, generating new tissue. It is a complex and painful surgery to be performed under general anesthesia, which lasts about 6 hours, at the end of which the Ilizarov apparatus is placed, and the patient will have to live with it for several months. “The first operation was on my right femur and then I had two tibia operations on the same leg,” explains Laura. “Unfortunately, the pharmacological treatment in combination with surgeries was not suitable and so, shortly after the correction, the advantage of the surgery vanished and varus came back [in lower limbs, the varus is a deformity which occurs when the knees bow away from each other in a standing position, Ed.]”.

Actually, until the age of 13, Laura underwent surgeries with the Ilizarov method, and only after years Laura could perform genetic testing which identified the mutation that caused her form of rickets. “I am the first in my family suffering from this condition and when I got pregnant, I was worried it might be transmitted to my daughter,” adds Laura. “Fortunately, during the first months of pregnancy, the analysis results arrived and I was reassured by professor Vezzoli, who ruled out the possibility for my daughter to experience the same symptoms.”

“It’s still hard for me to completely bend my knees; if I spend too much time standing up, I get weary, and when I get up the next morning, I tend to limp a little. However, rickets did not prevent me living a physically rich and full life, which reached the most beautiful moment with the birth of my daughter”, says Laura. “Psychologically, it was difficult because I’m still struggling to accept all the scars on my legs. In summertime, when I wear shorts or when I go to the beach, the insistent and curious gaze of the people hurts me. But what really matters for me is the support of my husband. And, above all, I don’t want my daughter to know the suffering associated with surgeries with the risk of infection and the long rehabilitation periods in and out of hospitals”, concludes Laura. “We would not wish it on anyone, and certainly not on who we love the most and who is important to us.”

This story is published with the permission of the Osservatorio Malattie Rare (OMaR). https://www.osservatoriomalattierare.it/