An international expert consensus paper and an endocrine-specific management paper were recently published to outline recommendations for monitoring in ALD patients. All boys and men with ALD should be monitored for adrenal insufficiency with cortisol and ACTH measurements, beginning in the first 6 months of life if possible. Current guidance recommends that if a male patient does not have adrenal insufficiency, their ACTH and cortisol levels should continue to be monitored every 3-6 months for the first ten years of life. After that, patients should still be monitored at least yearly. Current guidelines suggest that no adrenal monitoring needs to occur for girls or women, as adrenal insufficiency is very rare in females with ALD.

Adrenal insufficiency is treated with steroids taken in pill form 2-3 times per day. The most common steroid is hydrocortisone, and in some cases, a second steroid, fludrocortisone is added. Dosage may need to be altered in times of stress or illness (called “stress dosing”), as advised by the patient’s endocrinologist. In the case of an emergency adrenal crisis, patients and families should be familiar with the process of emergency hydrocortisone sodium succinate injections. Patients are also recommended to wear emergency identification bracelets indicating they have adrenal insufficiency and are dependent upon steroids in case of emergency. Additional emergency planning, including emergency action plans in the case of adrenal crisis (examples in this publication), an emergency letter from your endocrinologist that can be shown at your local hospital, and knowledge of local emergency medical technician (EMT) policies for carrying and administering emergency injections (see caresfoundation.org for state-by-state information) are also recommended.

ALD Connect hosts a Community Call for Newborn Screening, Young Families, and Parents of Asymptomatic Children each month, which often includes parents of children with adrenal insufficiency. This call is usually on the last Wednesday of each month at 7:30 PM Eastern. Be sure to follow us on social media and subscribe to our newsletter to watch for the announcements. You can also bookmark our Community Calendar, which is were we post the links to register for the Community Calls. ALD Connect also hosts a peer mentor program, which connects less experienced community members to more experienced members of a similar phenotypes. You can apply for a peer mentor here.

In January 2024, we hosted a webinar, Adrenal Insufficiency Starter Pack: Basics for Newly Diagnosed ALD Families, which you may find helpful to learn more about the basics of adrenal insufficiency and helpful tips for ALD families.

The Groel Family

Hello and welcome. I’m Bill and we are the Groel family. Kate and I were married in 1997 and we have three wonderful boys named Connor, Carson, and Clancy. We’ve moved a few times as a family going from the Northeast to Texas, then California, and back to Texas where we are today. Each stop has brought us new experiences with doctors and raising children away from family. Here’s a little more about our story.

Our son Connor was diagnosed with the biochemistry for ALD using cord blood just a few days after he was born. Newborn screening wasn’t available in 1999, but Kate’s family had a history of ALD going back to 1979 so we knew to test for ALD and had some genetic counseling during the pregnancy. After receiving the diagnosis we were thrust into the world of navigating ALD with the help of leading experts at the Kennedy Krieger Institute and Johns Hopkins Hospital in Baltimore, MD. Two years later our middle son Carson was born and thankfully tested negative for ALD. Five years after that, our youngest son Clancy was born and tested positive for ALD. Needless to say, with two of our three boys having the biochemistry for ALD, raising a family proved to have some unique challenges.

Growing up Connor and Clancy had very normal childhoods in terms of school, friends, and activities but with the added precautions and medical requirements that came with an ALD diagnosis. Both Connor and Clancy are cortisone dependent (Addisons) which requires them to take cortisone replacement doses a few times a day to maintain normal levels. They were both participants in the Lorenzo’s Oil Study from just a few years old until their teenage years. This required dietary restrictions, routine blood work, and other annual examinations. They also receive semi-annual MRI’s every year and hold section 504 medical status while in school. Although our boys haven’t needed any special care at school, this allowed Kate and I to formally advocate for their needs if necessary and to educate their teachers and administrators on ALD and potential warning signs.

Most recently our family has completed human leukocyte antigen (HLA) testing to determine if any of us are a match for bone marrow should we ever be in the position to need a donor. Our middle son Carson proved to be a match for both Connor and Clancy.

Today our boys continue to live as normal a life as possible despite the daily cortisone replacement and periodic MRI’s. Connor is a 2020 graduate of The University of Texas at Austin and Clancy will be attending High School this Fall as a 9th grader and aspires to play basketball for his school team as he did in Junior High. As they’ve gotten older, both boys have taken on a greater responsibility for their health and their understanding of ALD and their future.  Unlike at the time of their original diagnosis, the medical protocols and advances supporting the needs of ALD families has never been greater. This gives us great hope for a positive future for them and everyone impacted by this rare disease.