Determination Over CAH (Congenital Adrenal Hyperplasia)

Jaden is ready to take on the world!  His big brown eyes show that immediately.   He was diagnosed with congenital adrenal hyperplasia (CAH) – classical salt-wasting form.  He is also undergoing therapy for the secondary arterial hypertension – Captopril, Furanthril.  He has delayed neuropsychological development and would benefit from individual work with a psychologist.  He has not started speaking yet but follows simple instructions.  He cannot walk yet but can stand up independently while holding onto something. He makes small steps while an adult is holding both his hands and he moves around in a baby walker.

So what is CAH?553_photo4_Mar15

“Congenital adrenal hyperplasias (CAH) are a group of heritable disorders associated with an inability or deficiency in the ability to produce cortisol. In affected individuals, the disease begins early in gestation and leads to disease that is manifest at birth…Greater than 90% of the cases of CAH are the result of deficiency in the enzyme steroid 21-hydroxylase.”

Jaden’s case presents a “Deficiency in production of cortisol and aldosterone: Aldosterone is necessary for normal retention of sodium by the kidney, and in its absence, a “salt wasting” disorder occurs.” But “it is a relatively common disorder in humans.”

“Salt-wasting form: Roughly 75% patients are unable to synthesize adequate amounts of aldosterone, which is essential for sodium homeostasis. Such individuals lose large amounts of sodium in urine, which leads to potentially fatal electrolyte and water imbalance. Individuals with severe deficiency usually present with “adrenal crisis” between 1 and 4 weeks of age; signs are often non-specific, but can include poor appetite, vomiting and failure to grow. Replacement therapy is mandatory in such patients.”

553_photo3_Mar15Jaden is undergoing permanent therapy (Hydrocortisone, Cortineff, NaCl). His medical also states “congenital cardiac malformation – hemodynamically insignificant pulmonary stenosis”. His congenital cardiac malformation refers to pulmonary stenosis, which is hemodynamically insignificant and thus, his cardiac function is preserved.

His condition is not for the faint of heart but he seems to be a fighter.  His videos show his curiosity and great hand-eye coordination. He is a positive little guy and deserves a fighting chance.

To find out more information on Jaden please email me, Jill Dickson –  jill.d@chiadopt.org or Amanda Morton – amanda.m@chiadopt.org.

 

Information from: http://arbl.cvmbs.colostate.edu/hbooks/pathphys/endocrine/adrenal/cah.html

Other helpful links:

https://www.nichd.nih.gov/health/topics/cah/conditioninfo/Pages/symptoms.aspx

https://www.hopkinschildrens.org/cah/printable.html

https://health.state.tn.us/MCH/NBS/PDFs/CAH.pdf

 

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