Just after birth, a few drops of blood are taken from a baby’s heel and placed on a card that is sent to the state’s newborn screening lab. The results are then sent to the baby’s pediatrician and the hospital where they were born. Babies need then need additional blood tests to confirm ALD including a DNA test.
Most individuals with the ALD gene are free of clinical symptoms during the first three years of life. ALD does not cause developmental delay. Some individuals continue to have no symptoms for many years. But as the diagram shows below, the percentage of asymptomatic men and women decreases with age.
Standard of Care
Baby boys identified on the newborn screen as having ALD should be started on a surveillance program to monitor adrenal gland function (within the first few months of life) and any development of cerebral disease (to start around 2 years of life).
Much of the initial care is by an endocrinologist when monitoring the adrenal gland. A neurologist may also be helpful when MRI’s are initiated. Later, a neuropsychologist can help assess a child’s development and cognitive abilities.
A family with a newborn with confirmed ALD (male or female) should also meet with a genetic counselor to discuss and identify other family members (male and female) who may be at risk for ALD and which should have blood testing.
The McAnelly Family
On January 3, 2019 our second son was born. We were overjoyed! He was the perfect addition to our family. Little did we know, he had bigger plans for us. At 1 week old we got the call that our sweet baby was positive for X-Linked Adrenoleukodystrophy (ALD). As our pediatrician explained this disease to us, I went numb. Our lives were forever changed by this information. After more testing was done, the disease was indeed confirmed and our 2nd string of bad news was delivered. Our older son, Murray, who was 3 at the time, was also positive for this disease. It took awhile for us to digest all this information. I turned to family and friends for support. I saw a therapist. What I didn’t have was another family to connect with. That is why I reached out to ALD connect to see if I could be apart of the Peer Mentor Program (PMP). I want to share our story with others and be there to answer your questions. Parent to Parent. No one in the world can completely understand what you are going through, but maybe I can help alleviate some stress and worry.
After we found out we met with the ALD specialists at the U of MN and Murray had his first MRI. Luckily it was normal but we knew another scan was in 6 months. The anxiety was gone for now. One other question we had was “what else can we do for our boys?” We want to do everything possible to give them the best chance of survival. To our astonishment they suggested we have another child. I was 1 month postpartum and he wanted us to have another child? How? Why? You might ask. Well, the chances of survival went up 5-10% if you had a sibling that was an HLA match for umbilical cord or bone marrow donation. Who wouldn’t want this for their child? So we went down the road of IVF with preimplantation genetic diagnosis. We were about to embark on a journey to create a life to save a life. A month later we were meeting with the IVF doctors. After 2 rounds of egg retrievals, hundreds of shots, labs and doctor’s appointments we got the call that we had ONE embryo that did not have ALD and was a 100% HLA-tissue type match for our boys. On Oct 10, 2019 with the help of the medical team we became pregnant with our 3rd boy.
Fast forward to today, I am 36 weeks pregnant and we have an umbilical cord collection kit sitting and waiting for the big day. This precious fluid that will be collected shortly after his birth and will be ready for use if needed. Looking back on the past 16 months, all I feel now is gratitude. Grateful for those who fought to add ALD to the newborn screen so that we had the knowledge ahead of time to do something if we need to. Grateful for the U of M and all the families we have connected with. We are most of all grateful for our unending team of support that is getting us through this – our family and friends.