Fair For Rare: VICKI's Story
In 2003, I gave birth via emergency C-section at 34 weeks gestation. My daughter needed resuscitation immediately. She had doctors confused as to what may be happening to her and why it was so difficult to stabilise her. At three days old, she was flown from special care to intensive care. Once again, doctors couldn’t explain the high blood pressure and organ failure and they tried brainstorming with other doctors from around the world.
It wasn’t until day five that doctors suspected a diagnosis of Idiopathic Infantile Arterial Calcification (IIAC) and sadly, she died of complete organ failure at just eight days old. She was the first recorded case in Australia. A sample of her skin was biopsied and sent overseas for genetic studies. Our daughter had a gene mutation on the Enpp1 gene. We had a one in four chance of having another child affected with the condition, a one in four chance of having a child not affected and a two in four chance of having a child who is a carrier.
I tried to find out as much as I could about the condition, however, all of my reading led me to the knowledge that this is a terminal condition with a life expectancy of approximately six months if the child was lucky to survive their first few weeks of life.
I fell pregnant in 2005 and was involved in a medical study with the hospital I was receiving treatment at. I had many arguments with doctors in regards to treating my child with medication at birth. Doctors were not so keen because there was not enough research to support success in drug therapy treatment, however, I managed to convince them to try. It was a hard fight while trying to remain positive. In 2005, I gave birth to my second daughter at 37 weeks gestation via elective C-section and my daughter’s fight to survive began.
Within the first hour, she suffered respiratory disease and required oxygen. Her blood pressure was normal at 66/24 mmHg (arterial blood pressure 35 mmHg). No other abnormalities were detected on clinical examination. She underwent abdomen and chest radiography because of the history of Generalised Arterial Calcification of Infancy (GACI) and neonatal death in the family; this investigation did not reveal vascular calcification. A subsequent ultrasonographic evaluation on day two showed diffused arterial calcification that involved the aorta and the carotid, renal, mesenteric, cardiac and cerebral vasculature. Echogenicity of the renal cortex was increased, which suggested calcification. Echocardiography showed echogenic coronary arteries and a regional reduction in ventricular function that was consistent with infarction meaning she suffered a heart attack.
On further examination, she had no pulse as her pulses were yet to pulsate due to the calcification in her arteries. She was flown to intensive care where we were given the talk about doctors believing our daughter has IIAC and they didn’t think she was going to make it. On day four, she was officially diagnosed with the exact gene mutation as her sister and given the same outcome. However, she would prove doctors wrong.
At seven days old, she started on a low dose of disodium pamidronate (0.1 mg/kg per week for four weeks). She tolerated the medication and it did not cause any acute flu-like symptoms or hypocalcemia. This treatment was changed to oral risedronate sodium at a dose of 1 mg/kg (5.0 mg) weekly at four weeks of age because venous access was becoming increasingly traumatic.
The right femoral pulse became palpable at two months - this was the first palpable pulse since she was born. Complete resolution of arterial calcification was seen by three months of age. Ergocalciferol was added at a dose of 5,000 U daily for six weeks, followed by 200 U daily because of Vitamin D deficiency and elevated parathyroid hormone level. She developed hypertension at three months with a blood pressure of 110/45 mmHg (arterial blood pressure 70 mmHg) and antihypertensive therapy with amlodipine 0.5 mg daily was started. Ultrasonographic examination of the abdomen showed complete resolution of arterial calcification with unimpeded renal blood flow and resolution of renal stippling. Further return of pulses was detected with the brachial and femoral pulses becoming bilaterally palpable. X-ray scans showed mild structural defects in long bones and vertebral, end-plate sclerosis. Dual-energy X-ray absorptiometry (DEXA) scan parameters were satisfactory. Things were looking very positive for our daughter.
Fast-forward to 2018 and she is now almost 13-years-old and is doing exceptionally well considering her numerous health concerns. That said, she does live a relatively normal and full life. She plays sport, is very academic and is loved by her peers. At times, the hardest thing for people to accept is all of her health conditions because physically, she looks completely normal. That said, her health complications do restrict her at times.
Thankfully, we do have a support network where numerous parents from around the world talk and share updated research regularly. This support group consists of families who have not only lost a baby to IIAC/GACI but families who also have children living with the condition. Due to this condition being so rare, I’m more than happy to share my email address and encourage people to reach out for more information about this condition as time is crucial with this rare disease.