The story opens with the birth of a baby girl named Lily. Lily's parents are overjoyed to welcome their first child into the world, but they notice something is not quite right with their little girl as the weeks pass. Lily seems to have trouble seeing and is not growing as quickly as other babies her age.
After a series of tests, the doctors diagnose Lily with Septo-Optic Dysplasia, a rare congenital malformation that affects brain development. The news devastates Lily's parents, who struggle to accept their daughter's condition. They are filled with questions:
- How did this happen? Is it genetic? What can be done to help Lily?
As Lily’s doctors explain, signs and symptoms of septal dysplasia may include decreased vision in one or both eyes, nystagmus, strabismus, and endocrine dysfunction (including growth hormone deficiency, hypothyroidism, adrenal insufficiency, diabetes insipidus, and hypogonadism). These are a series of problems linked to abnormalities of brain structures that control certain hormones produced by a gland in the brain called the pituitary.
Seizures may also occur. While some children are intellectually normal, many have learning disabilities, intellectual disabilities, cerebral palsy, or other developmental delays. According to Lilly’s doctors, only time will tell the severity of her brain abnormality.
As Lily grows older, her parents realize her struggle to keep up with her peers. She struggles with fine motor skills and has a severe vision impairment. Despite these challenges, Lily remains a happy and curious child, eager to explore the world around her.
As Lily's parents search for answers, they discover that Septo-Optic Dysplasia is caused by a malformation of the front of the brain that occurs during the first month of gestation. Although the condition's cause is unclear, abnormalities of a particular gene called HESX1 have been found in some children with septic-optic dysplasia.
Lily's parents become determined to find a way to help their daughter. They explore various treatment options, including supportive care and replacing deficient pituitary hormones. They also connect with other families with children with Septic-Optic dysplasia, forming a supportive community that helps them navigate the challenges of raising a child with a rare condition.
As Lily grows older, her parents also notice specific positive changes in her behavior. She seems to have a special gift for solving puzzles and mysteries, often noticing details that others miss. So, they encourage her to pursue her unique talent. Later in life, Lily becomes a skilled detective, using her unique perspective and attention to point to solve complex cases.
Although Lily's parents appreciated the challenges associated with their daughter's condition, it served as an opportunity for them to realize Lilly’s unique skills and abilities.
Seeing the Big Picture of Septo-Optic Dysplasia
Today, Lily's parents are proud of their daughter's ability to embrace her differences and use them to make them towards her lifelong success. The story ends with Lily solving a challenging case, proving that even the most unexpected challenges can lead to greatness.
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MedlinePlus - Health Information from the National Library of Medicine. MedlinePlus - Health Information From the National Library of Medicine. https://medlineplus.gov/
Access Anytime Anywhere | Cleveland Clinic. Cleveland Clinic. https://my.clevelandclinic.org/