A 44-year-old father whose 2-year-old daughter has been diagnosed with incurable neurofibromatosis had no idea he passed this condition to her until the doctors saw their unusual birthmarks.
Nathan Coughlan and his daughter, Chloe Coughlan, had light brown patches all over their skin indicative of neurofibromatosis. While the birthmarks are harmless, the genetic condition may lead to learning disabilities, some physical abnormalities, and behavioral issues.
The father told Daily Mail that he and his wife, Pam Coughlan, noticed Chloe's health and developmental issues when she was still a year old. Chloe had frequent constipation and missed very important milestones for a developing child.
Doctors did a series of tests and assessments for Chloe for a few months to determine the possible causes of her developmental issues. Because of the birthmarks, doctors were already aware that it could be neurofibromatosis, and they confirmed this diagnosis when the child turned two years old.
What is Neurofibromatosis?
Per the Mayo Clinic, neurofibromatosis belongs to a group of genetic disorders that affect the nerve tissues in the brain or spinal cord. The tumors that grow in these body parts are usually non-cancerous but can lead to other health complications.
Aside from the birthmarks and learning disabilities, people with incurable neurofibromatosis may also have bumps in their eyes, freckling in the groin and armpits, neurofibromas, or bumps on the skin, bone deformities, tumors around the optic nerves, and larger head size.
Other classifications of neurofibromatosis include the less common NF2, which can lead to persistent hearing loss and headaches, and Schwannomatosis, which manifests in adulthood and may lead to chronic muscle pain.
Chloe's condition is considered NF1 as it was diagnosed in childhood. Her symptoms may vary from mild to moderate, but her parents said they still do not know what other health issues Chloe may have.
The toddler is still struggling to communicate and has to work with a speech therapist. However, they find relief in knowing what's ailing Chloe and can be properly supported with continuous visits to her doctors and medical team.
Now that he's aware, Nathan will also be visiting his doctors regularly to treat the complications of his disease. Before his neurofibromatosis diagnosis, Nathan was also told he had osteoporosis, which is common with NF1 patients.
As neurofibromatosis is a genetic defect, there is no cure. Patients, however, may be able to manage the symptoms, especially if this has been detected earlier. In some cases, doctors may prescribe medication or even surgery if the tumor growth affects other body functions. In rare cases, cancer treatments will be administered if the tumor has become malignant.
Woman Diagnosed with NF1 at Age 2 Now Planning Second Wedding
Bethany was also diagnosed with NF1 around the same age as Chloe. She grew up getting teased in school for her birthmarks and her physical defects because not many people know about incurable neurofibromatosis, including her teachers.
Despite this, Bethany found love when she met Paul, a patient getting thyroid cancer treatments in the same hospital. In 2004, the pair got married, but their life together was short-lived as Paul lost his battle with cancer.
In 2017, Bethany met Greg through mutual friends who accepted and loved her despite her physical condition. The pair recently got engaged and are planning their September 2023 wedding, in between Bethany's medical therapies and surgeries for the growing lumps on her skin, per 7 News.
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