Help Eli's Wish: A Disney World Adventure

Hello everyone,

We would like to start a GoFundMe for our amazing nephew, Eli Chang, who was recently diagnosed with a very rare genetic disorder. His younger brother, Owen Chang, also has the disorder, but fortunately, their eldest brother, Ashton, does not.

Eli has been undergoing treatment, but sadly, we were recently informed that his condition has declined rapidly. He has always been a fun and adventurous child, and his greatest wish is to spend as much time as possible with his family and friends at Disney World.

We were very fortunate to partner with the Make-A-Wish Foundation, which covered the costs for my parents (their primary guardians), my younger brother, who lives with and supports them, as well as my youngest brother and his wife, who act as their second parents—caring for them through visits and medical planning during this difficult time.

We kindly ask for any donations, big or small, to help cover travel, lodging, and food expenses for our entire family. Thank you so much for your time and for caring about our family.

X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder that impairs the breakdown of very long-chain fatty acids (VLCFAs), leading to their accumulation in various tissues, notably the nervous system and adrenal glands. This accumulation results in progressive damage, particularly affecting the myelin sheath—the protective covering of nerve cells—and the adrenal cortex.

Genetic Basis and Inheritance

X-ALD is caused by mutations in the ABCD1 gene located on the X chromosome. This gene encodes a protein essential for transporting VLCFAs into peroxisomes, where they are typically broken down. Due to its X-linked recessive inheritance pattern, males (who have one X chromosome) are more severely affected, while females (with two X chromosomes) may be carriers and can exhibit milder symptoms or remain asymptomatic.

Clinical Variants

The presentation of X-ALD varies widely:

Childhood Cerebral ALD: Typically manifests between ages 4 and 10, leading to progressive neurological decline, including behavioral changes, cognitive impairment, and motor dysfunction. Without early intervention, it can be fatal within a few years.

Adrenomyeloneuropathy (AMN): Generally presents in adulthood with symptoms like muscle stiffness (spasticity), weakness or paralysis of the lower limbs, ataxia (affecting movement), numbness and pain, erectile dysfunction, bowel incontinence, bladder control problems, and premature baldness.

Addison's Disease (Adrenal Insufficiency): Some individuals may primarily experience adrenal insufficiency, leading to symptoms such as fatigue, weight loss, skin changes, and low blood pressure.

Diagnosis

Diagnosis involves measuring VLCFA levels in plasma and confirming mutations in the ABCD1 gene. Newborn screening for X-ALD has been implemented in several regions, allowing for early detection and management before symptom onset.

Management and Treatment

While there is no cure for X-ALD, early intervention can significantly impact outcomes:

Hematopoietic Stem Cell Transplantation (HSCT): For early-stage cerebral involvement, HSCT can stabilize or slow disease progression.

Adrenal Insufficiency Management: Lifelong hormone replacement therapy is essential for those with adrenal insufficiency to maintain health and prevent adrenal crises.

Symptomatic Treatment: Physical therapy, medications, and supportive care can help manage spasticity, pain, and other neurological symptoms associated with AMN.

Regular monitoring by a multidisciplinary medical team is crucial to address the diverse manifestations of X-ALD and to provide timely interventions.