Living with GACI/ARHR2 as a Child

When an infant is diagnosed with Generalized Arterial Calcification of Infancy, things are usually considered quite critical and they may be seen quite frequently in various hospital clinics. There will be frequent echocardiograms, blood and urine tests, and vital signs will be monitored closely- blood pressure, pulses, heart rate, height and weight.

Infants who suffer from the gastrointestinal complications of GACI may be irritable and difficult to console due to the discomfort they are experiencing. They will likely be followed by a gastrointestinal specialist until the GI symptoms have resolved.

Children who survive GACI may deal with many different long-lasting complications of the disease. Because of this they may have a lot of various appointments as they grow. Children with GACI are regularly followed by a cardiologist and an endocrinologist and they are monitored with regular echocardiograms, blood and urine testing. Depending on what other complications of GACI a particular child is dealing with, they may also have regular appointments with audiology, nephrology, physical therapy, or orthopedics.

Infants/children who have joint calcifications as a result of GACI may be followed by an orthopedic surgeon. They may suffer from reduced range of motion and pain with certain movements. There is limited information available about the progression or regression of joint calcification in patients with GACI. At least one patient has had surgery to remove the calcification in his shoulder joints. This combined with years of physical therapy helped him to attain fully functional range of motion in his shoulders. Even without surgery, if there is functional impairment of the affected joint (such as reduced range of motion), a child would likely see a physical therapist to see if they could help increase mobility or function.

Children with GACI are at risk of developing hearing loss. If hearing loss is identified, the child may have regular hearing tests to monitor progression or stability of the hearing loss. They may be fitted with hearing aids depending on the level of loss. Hearing loss can affect a child in many ways including the acquisition and development of language. In general vocabulary develops more slowly in children with hearing loss and the gap in vocabulary between those with normal hearing and those with hearing loss widens with age. Children with hearing loss do not catch up without intervention. They may struggle in social situations due to inability to follow conversations or hear in a noisy setting. Early intervention is important for ensuring the most positive outcome for children with GACI who develop hearing loss. They may need accommodations in school such as the use of an FM system and the services of a speech language therapist and/or teacher of the Deaf/Hard of Hearing.

Many children with GACI go on to develop Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2). If this happens, the current treatment is daily administration of phosphorus roughly 4 times per day (every 6 hours) and calcitriol (prescription vitamin D). The child should be monitored regularly with blood and urine tests to ensure appropriate phosphorus levels in the blood. An orthopedic doctor may also monitor the child’s progress in terms of how their bones are being affected by ARHR2 and the treatment for it.

ENPP1 and ABCC6 Deficiencies can cause a lot of potential side complications that can affect children in different ways. No child with GACI or ARHR2 presents exactly the same way as another child with GACI or ARHR2. For this reason, it is important that these children are monitored carefully and regularly by the appropriate medical professionals.

Despite the need for careful follow-up and regular medical appointments, children with GACI or ARHR2 can live very full and happy lives. Children with GACI/ARHR2 have been able to attend school, play sports, take dance, gymnastics, or karate lessons. They ride bikes and play with neighborhood friends, go skiing in the winter and swimming in the summer. This condition can make life more challenging at times, but children with GACI/ARHR2 prove their resilience, strength, and bravery each day.