Caring for a child with APDS: navigating the complex diagnostic journey and the challenges of having no recognised standard of care
Jill Chaney’s son, James, is the first person diagnosed with APDS in the family. James, now a teenager, was diagnosed in 2015, not long after APDS was first described. Jill shares with us their complex journey to diagnosis, her appreciation for the care provided by an APDS specialist, and her gratitude for the support she has received from her family and the APDS community.
What is activated PI3K delta syndrome?
Activated PI3K delta syndrome (APDS) is a rare primary immunodeficiency disease. Clinical presentation and severity of the disorder can vary. It is caused by variations in one of two genes. APDS can be present in multiple family members; however, it is possible to be the first person in a family to have APDS. This is called a de novo variant.
Q: Could you tell us a bit about your journey to diagnosis for James?
James has been sick since birth. He had unusual blood counts and had a fairly bad case of jaundice, meaning he was hospitalised for six days after birth. James had five ear infections by the time he was six months old. This was our first indication that something was not right. He ended up having ear tubes put in at this young age, which is unusual. As time went on, we noticed developmental delays with speech and walking. At two years old, James was put on his first prophylactic antibiotic. It was then we were told he had common variable immunodeficiency (CVID).
What is CVID?
CVID is an immune system disorder that causes low levels of proteins that help fight infection.1 APDS is often misdiagnosed as CVID initially due to its similar clinical presentation. Having an accurate diagnosis is essential to receive targeted symptom management for APDS.
Within the next couple of years, James underwent a hernia surgery and had a lymph node removed from his neck. James also had shingles at the age of three, and several cases of pneumonia and upper respiratory infections. At six, James started immunoglobulin infusions (used to increase antibodies in the body) to help prevent the infections he is at risk for and reduce their severity.
When he was ten, things took a swift turn for the worse. James became very ill very quickly with severe abdominal pain and nausea. After several appointments with healthcare professionals, and at my insistence, James was given an abdominal CT (computerised tomography) scan. The scan showed a large lymphoproliferative mass in his intestines. James went into surgery on the same day.
A lymphoproliferative disorder is one in which cells of the lymphatic system grow excessively. Lymphoproliferative disorders are often treated like cancer. Source: National Cancer Institute
The mass was sent off for testing, but no laboratory could identify what it was. We were sent from Arkansas Children’s Hospital to the genetics department at Cincinnati Children’s Hospital. At this stage, APDS was suspected, and a genetic test later confirmed this diagnosis.
Q: Once you received James’s diagnosis of APDS, how did you find specialists in the field?
Once James had his diagnosis, I scoured the internet for information on APDS. I discovered a parent forum on the Immune Deficiency Foundation (IDF) website, and I came across a mother who had a child with APDS. She put me in touch with Dr Uzel, who specialises in APDS, at the National Institutes of Health (NIH). After getting in touch with Dr Uzel, we travelled to Bethesda, Maryland, where the NIH campus is located. James continues to be a patient at the NIH.
Q: Given APDS is a newly described rare disease, how did you find information?
I tried to find information for myself through internet research and reading any medical journal I could find, but with very little luck. We were lucky to find Dr Uzel, one of the world’s foremost authorities on APDS. If not for Dr Uzel, none of the health professionals in James’s life would have been aware of his condition, nor how to care for him. They have since become far more knowledgeable about the disease.
Q: What do you feel are the biggest unmet needs for the APDS community?
“One of the biggest challenges is feeling like James has been a guinea pig for treatment.” Jill
The medication James takes is not indicated for APDS, and it’s been a trial-and-error process. Currently there is no recognised standard of care for his diagnosis. Even though James has done extremely well on his current medication regimen, not having a cure or specific treatment for APDS has been discouraging.
Q: How have you found coordinating James’s care?
James sees an immunologist and a pulmonologist at Arkansas Children’s Hospital twice-yearly. Since COVID, we have not been to the NIH, and he has only had telehealth services once. James has TEFRA Medicaid—a division of Medicaid in Arkansas offered to children with severe or complex medical problems. This covers James’s medical costs.
Q: Have you managed to find a support group for APDS families?
I found a wonderful support group on Facebook, which has been a great resource for me to connect with other families, and share resources and news. James also has a very loving family who are all supportive and understanding of his diagnosis. I feel lucky to have this support surrounding us.
A few words from James. . .
“Even though I have APDS, I have always felt like a pretty normal kid. I know I go to the doctor more and take more medicine than any of my friends, but it’s never really stopped me from doing anything I want to do. Having APDS has never really bothered me because I don’t think of it often. My parents never really made a huge deal out of it, so it didn’t seem like a big deal. The only time I really think about it is when I have to travel all the way to Maryland to see my doctors.”
Activated PI3K delta syndrome (APDS) is a primary immunodeficiency (PI). It may also be referred to as a primary immunodeficiency disorder (PID), primary immune regulatory disorder (PIRD), an inborn error of immunity (IEI) and was previously known as PASLI disease.
 Common variable immunodeficiency. Mayo Clinic website. https://www.mayoclinic.org/diseases-conditions/common-variable-immunodeficiency/symptoms-causes/syc-20355821 Accessed October 25, 2021