GACI Global

The roots of GACI Global can be traced back to mid-2013 when Christine O’Brien (from the United States) and Liz Molloy (from Ireland) managed to find each other through the Internet, at a time when connecting with other families dealing with a diagnosis of GACI was difficult.

Shortly after they met, Christine and Liz decided to start a Facebook support group for themselves and the few other families they had managed to find. In 2018, four of these families from around the world came together at the Global Genes Rare Patient Advocacy Summit. They worked hard to establish GACI Global as a non-profit organisation and the only patient advocacy group in the world for families impacted by GACI or ARHR2.

Now, with the click of a button, families looking for support can connect with many other families who have walked the same road before. “We connect, support each other, celebrate the victories and grieve the heartbreaks together,” Liz says.

“Being able to connect to other families dealing with the same issues, the same rare disease, shouldn’t be underestimated. It’s often life-changing.

The challenges and burdens for families

Today, Christine and Liz spearhead GACI Global’s efforts to improve the lives of patients and families in the GACI community, who often face “an emotionally exhausting marathon”, Liz says. The challenges are broad and depend upon many factors, including geographic location, doctors’ willingness to collaborate with experts on the condition, level of education around the disease, local support systems in place and more.

Typically, a baby with GACI is treated in a neonatal intensive care unit and parents may have to be away from home for a long of time. “If they have other children at home, they can be torn in two directions,” Liz says. Parents may also find that the doctors aren’t familiar with the disease and don’t know what treatments to offer. At other times, doctors may be “unwilling to accept guidance from experts on the disease or collaborate with them”, she adds.

The challenges remain for families whose children have survived GACI but have gone on to develop complications of ENPP1 deficiency or have strokes or heart attacks. “These parents are often managing a lot of medical appointments and therapies and they are also managing daily medications, which have to be given around the clock,” Liz says. Additionally, parents often work hard to help older children catch up with missed schoolwork. All of this places a great emotional and financial burden on families: “one parent usually has to give up their job”, Liz says.

Ongoing medical care

In most cases, GACI is a progressive, lifelong disease, and it requires the proper follow-up and medical management for the rest of the person’s life. “The older patients in our community typically deal with significant joint and bone pain that affects them on a daily basis and hugely impacts their quality of life,” Liz says. 

Joint and bone pain in GACI is often progressive and typically begins in the teenage years. These patients develop something called calcific enthesopathy, which is when calcification occurs in the tendons or ligaments. This can be extremely painful and is progressive, limiting range of movement and motion. “Frequently, our adult patients are coping with chronic pain issues,” Liz says.

The importance of advocacy

GACI Global’s awareness raising is really important, Liz explains. “A new clinical trial has recently opened for babies with GACI caused by ENPP1 deficiency. This is the first time that there has been a treatment for babies with GACI. This makes getting an early diagnosis even more important than ever.”

Some people are living undiagnosed with the condition for many years, Liz says. “There have been times when patients in the community have been misdiagnosed with another condition, sometimes for 20, 30, or more years. When these patients finally receive the correct diagnosis, there can be a feeling of relief—they finally understand what has caused so many of the issues they’ve been struggling with.”

“Living with a rare disease can be an isolating experience. But by raising awareness, we can empower patients, researchers, and doctors to better understand the condition, potentially leading to more correct diagnoses, more research into the condition, and better treatment options.” 

Another important focus for the organisation is connecting families with researchers or clinical trials. “When families partner with researchers or industry groups, they can bring their unique insight to the table,” Liz says. “They can provide feedback on protocols and parameters, clinical trial options and more.” 

Families can be an invaluable conduit between researchers, industry groups and patients. “Nobody understands what living with GACI or ARHR2 is like better than a family who lives with it every single day,” Liz says. “They know what is important to our families. They know what challenges and obstacles they’re facing. They know what would make a difference to them.”

“There is still so much we’re learning about this condition. This disease was first described in medical literature in 1899, yet we’ve probably learned more about it over the past 15 years than in all the decades before. And there is still so much to learn.”

Getting in touch

Liz urges families affected by GACI to get in touch so that they can benefit from the support that the community offers, locally and virtually. “Connect with other families who know what you’re going through,” she says. She stresses the importance of self-advocacy, too:

“Ask your baby’s medical team a lot of questions. If you don’t understand something, ask them to explain it again. And, most importantly, don’t give up hope.”

Visit the GACI Global website for the most up-to-date information from the organisation: www.gaciglobal.org and to sign up for its newsletter. Also, keep an eye on social media channels (@gaciglobal) for news, including details of the GACI Global Worldwide Walk, an annual fundraiser that takes place in September of each year.

[1] GACI Global – Patient Advocacy Group for GACI/ARHR2. GACI Global. Accessed April 25, 2023. https://gaciglobal.org/gaci-global-home-page/