Dear Endocrinology Professional: 

I am the very concerned parent of a child with the “SEVERE” form of CAH (21-Hydroxlyase deficiency).  My son’s name it Triton, and he is 7 years old.  He was diagnosed via a PKU test performed at birth and began hormone replacement therapy before leaving Children’s Hospital in Dallas some weeks later.

My son and I are very active, and I am somewhat aware of the implications that “STRESS” can have on the body of a CAH child.  This letter is a request for a professional position letter on the management of potential “STRESSORS” in my CAH child’s life.  Thank you in advance, as your specialized professional advice will make me feel so much better about the care I provide to my son.

I have received the following CAH Stress Management definitions (1-4 in blue), but I still have some questions (1-8 in red).

 

1.        “In the event of physical stress or illness, the patient will need a stress dose of cortisol replacement.”

 

2.        “Physical stress is characterized as fever higher that 101 degrees Fahrenheit, strep-throat, ear infection, pneumonia, vomiting, muscle strain or sprain, broken bone, or a serious accident that requires immediate medical attention or hospitalization.”

 

3.        In other instances, if the patient “looks bad” (pale, sweaty or breathing fast), feels weak and/or unable to respond normally, losses consciousness, or has a serious injury, such as a broken bone, this would be considered a life-threatening emergency and a need for an injection of rapid-acting cortisol (which is to be kept on hand) immediately.” 

 

4.        “The CAH patient needs to maintain a low stress level and continue medications as directed in order to maintain a healthy life.”

(1)   My questions refer to my misunderstanding of “Physical Stress”  used in the definition.

• Question (2)  Does “Emotional Stress” apply,   and if  so how is it to be  managed and/or minimized as describe below?  

• Question (3)  To what extent should the need for “Stress  Doses” resulting from physical activities be avoided?

 (2)    “Physical Stress” of illnesses or serious physical injury (Sprain, Torn Muscle, Broken Bone) I understand.  However, “Muscle Strain” is a result of any activity that requires physical excursion like:  Running, Biking, Swimming, Soccer, Etc.

• Question (4):   Am I to closely monitor my son and administer a “stress  dose” to him when he is physically  exerting himself  whereby causing “Muscle  Strain”, or is “Muscle Strain” to be considered a  Muscular injury?

AND / OR

• Question (5):   Am I to take whatever steps are necessary to minimize his participation in physical activities that could lead to “Muscle Strain” or the  possibility of “Physical Stress” and/or Physical Injury”?  (i.e.  School Sports, Skiing, Biking, etc.

(3)    I know to administer the “Rapid-Acting” cortisol if my child is incoherent, unconscious, breaks a bone or has any other sort of serious injury or illness, and I am very familiar with the symptoms of the Adrenal Crisis situation.  Otherwise, I do not understand how to apply the examples of the “Looks Bad symptoms (i.e. pale, sweaty or breathing fast) requiring the “Rapid-Acting” cortisol. 

• Question (6):   Am I to closely monitor my child, and administer “Rapid- Acting” cortisol when physical exertion causes him “Look-Bad”, or is this to be  Interpreted as the likely symptoms of an otherwise undiagnosed Adrenal Crisis situation and/or illness requiring the “Rapid-Acting” cortisol?

• Question (7):   Am I to take whatever steps are  necessary to minimize his participation in physical activities that could lead to the manifestation of the “Looks Bad”  symptoms?

(4)   “The CAH patient needs to maintain a low stress level and continue medications as directed in order to maintain a healthy life.”

• Question (8)  Due to the CAH, should I refrain my child from:

Ø       Physical Exertion, Sports, Etc.? (Physical Stress & Injury)

Ø       Scolding? (Emotional Stress)

Ø       Corporal Punishment?  (Physical Stress)