More About Hayes



This is Hayes.  He’s the younger of our two sons, and he was born with a rare genetic condition.  At some point in his prenatal life, his gene IQSEC2 mutated.

Because this gene has only been mapped and studied recently, we don’t know much aside from what’s going on now.

Because of the IQSEC2 gene mutation, Hayes has the following symptoms and conditions:

Epilepsy: Specifically, Infantile Spasms (also known as West Syndrome).  These instantaneous muscle spasms are undesirable because they can stagnate brain development and, if not stopped, develop into lifelong epileptic syndromes.  It is likely that Hayes will develop Lennox-Gestaut Syndrome, which is another epileptic condition.

White matter / volume loss of the brain: There are two types of brain matter: white and gray.  Gray matter is where information is stored in the brain; white matter is where that information is transported via neurons.  Hayes’ white matter is not fully developed, and at this point in time we don’t know if it is unable to develop any further or simply delayed.  His brain is also smaller than those of his peers because of undeveloped or missing brain cells.

Optic nerve hypoplasia: Because of the specific way that Hayes’ brain formed, his optic nerve was slightly under-developed.  The optic nerve is the bundled connection that carries visual information from the eyes to the brain.  Since this ‘wire’ is faulty, Hayes is legally blind.  He can see, but since he cannot talk yet, we are not sure just how well. Glasses can’t fix his vision, because the problem is not in the way his eyes see, but in the way the images are carried to his brain.

Hypotonia: Hypotonia just means low muscle tone.  This is why Hayes feels ‘floppy’ when held.

Global developmental delay: In all regards (except perhaps eating 🙂 ), Hayes is developmentally behind his peers.  (To paint a general picture, Hayes will be three as of November 2015 and is still working at mastering sitting independently and does not use words or sign language.)  He will probably face lifelong deficits in motor, cognitive, and social skills, but we are proud of him and overjoyed as he does reach milestones at his own pace.

Our journey with Hayes has been at times trying but rewarding; frightening yet inspiring; lonely and humorous; devastating while fulfilling.  We could not continue without the encouragement from our families and friends; the love for our precious, precious boy; and most importantly, without our help that comes from the LORD.


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