An Additional Diagnosis - Torin's Medical Journey

October 21, 2023

An Additional Diagnosis with Updated Treatment Plan

In September, Torin was referred to a Pediatric Endochrinologist in order to receive endochrinology clearance prior to his upcoming liver surgery at Lurie Children's Hospital in Chicago this November. After discussing the ongoing management and stability of his long-term Hypothyroidism diagnosis (a very commonly-seen hormonal disorder in individuals with Down syndrome), we debated whether to schedule an ACTH (Adrenocorticotropic Hormone) Stimulation Test at the Pediatric Daycare Unit at Victoria General Hospital to check Torin's adrenal response to stress.

Such a test really made sense in light of the rapid crashes Torin experienced in the Fall and Winter of 2022 with every virus he was exposed to. As I recounted in our September blog post Torin's Medical Journey, Torin experience rapid declines in his health whenever he was exposed to a virus or bacteria during this time. He would first spike a fever or become lethargic, start vomiting, and then become almost non-responsive within less than an hour of the first bout of vomiting or onset of illness. He would develop dark purple circles under his eyes, and became so weak, so quickly, that we would have to rush him to the emergency room at the first sign of sickness. The crashes were so scary and became worse with each illness, to the point that we had to instate an emergency medical plan at the hospital and plan for a 9-1-1 call and ambulance transport if he were to get sick.

Torin has also been on inhaled steroids for his asthma since early childhood, and received several doses of Dexamethosone steroid while in the hospital being treated for pneumonia in December 2022, plus once again when he experienced massive swelling after Tonsillectomy and Adenoidectomy surgery in June 2023. In some cases, repeated exposure to steroid treatment can suppress the adrenal glands, leading to a condition known as Adrenal Insufficiency, or Cortisol Dependency. Although this diagnosis was quite unlikely for Torin in the eyes of his Endochrinologist, given all the steroid treatments he has received over the years, combined with the drastic crashes he was experiencing with any stresses to his system, we opted to schedule the stimulation testing as a precaution before major surgery.

The process for the ACTH Stimulation Test is this: the patient arrives at the hospital and an IV is placed. Blood is collected prior to the test starting, in order to determine the "resting" level of cortisol. So what is cortisol anyway? Cortisol is an essential hormone that affects almost every organ and tissue in your body. It plays many important roles, including (but not limited to): regulating your body’s stress response, suppressing inflammation, regulating blood pressure and stabilizing blood sugar levels. Once the pre-test bloodwork is complete, ACTH is administered intravenously, and is supposed to signal the pituitary gland (located just under your brain) to stimulate the adrenal glands to release cortisol. The level of cortisol in the blood is then measured in precise intervals after the ACTH injection. The test takes about 90 minutes total and generally has no uncomfortable side effects other than the IV placement and removal.

About a week after the stimulation test, we received a call from Torin's Endochrinologist. Much to their surprise, Torin's cortisol levels barely changed AT ALL following ACTH administration. He was therefore diagnosed with Adrenal Insufficiency, also knows as Cortisol Dependency.

So where are we at now?

It's a HUGE relief that this condition was caught prior to Torin's liver surgery. Under the direction of the Pediatric Endochrinologist, we quickly began daily oral Predinisone treatments to help manage his cortisol levels, and we now have a modified emergency plan in place that involves immediate intramuscular injection of steroid hormone in the case of a medical illness or emergency. Such an emergency could be a severe head bump, a fever or repeated vomiting, a broken bone, or a car accident. The injectable steroid will help Torin's body cope with the stress associated with a traumatic event, keeping his blood pressure and blood sugar levels stable. It could absolutely save his life in the case of a severe trauma.

We also have a modified plan in place for the surgery to fix his Portosystemic Liver Shunt in Chicago next month. He will receive an increased "stress dose" of oral Prednisone (steroid) in advance of his surgery, and prior to any invasive tests or general anesthetics. Throughout his procedures and surgeries, his cortisol levels will be closely managed and he will receive IV doses of steroids while unconscious.

We are so relieved to be armed with this new diagnosis and with better knowledge of how to help keep Torin safe and healthy: both during his day-to-day activities, and throughout his upcoming international medical treatments. As always, we are extremely grateful to have access to such exemplary healthcare in our city, as well as amazing medical specialists to help manage Torin's overall health and wellness.

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Today we are exactly 2 weeks out from our departure for Chicago. I still plan to continue developing this Blog as things unfold - using it as a tool to help keep in touch and provide updates to all our wonderful supporters back here at home throughout our stay and treatment in the USA. Thank you again for your care and concern for Torin, for our family, and for Momease Baby Boutique. Thank you for following along on this journey - it truly means the world to us.

With love from the McLean Family,

❤️ Lyra, Adam, Torin, Lochlan, Kingston & Bronwen

  Torin October 2023

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