Having a rare disease, or a family member with a rare disease, can be expensive. Management often requires multiple visits to specialists. Medication and medical equipment are not always covered by health insurance. Then there’s travel expenses, and sometimes the loss of income from caregivers having to miss work to take care of their child. Funding for families can reduce the burden of these expenses by providing a cushion, allowing families to get access to necessary medical needs, and even pushing for research.

The recent “Waylon’s Walk” volleyball tournament, which took place in Madisonville, TX, served to fundraise as a way to support the Lorance family. As Julia Lewis reports in KBTX, the Madisonville community came together to raise money for Waylon Lorance. Waylon, who has a rare genetic disorder called Apert syndrome, will eventually need surgeries to separate abnormally fused skull bones, a feature of this disorder. He underwent his first surgery earlier this year and his second will occur in July, which will also work to separate abnormally fused bones in his hand. 

Altogether, fifteen volleyball teams came to “Waylon’s Walk,” raising more than $5,000 for the Lorance family. If you would also like to contribute, you may send donations payable to Taryn Lorance (memo line: Waylon’s Walk) to First Financial Bank, located at 9330 State Highway 75 South, New Waverly, TX 77358. 

Understanding Apert Syndrome

Also known as: Acrocephalosyndactyly type 1 

Apert syndrome is a rare genetic disorder characterized by the abnormal growth of the hands, feet, face, and skull. It is caused by FGFR2 gene mutations. Normally, this gene plays a crucial role in the development of bones and connective tissue. For example, FGFR2 helps bones to join at the right time in fetal development. When this gene becomes mutated, bones fuse together prematurely. This mutated gene almost always occurs spontaneously.

Symptoms and characteristics of Apert syndrome can include:

• Craniosynostosis, a birth defect in which one or more fibrous joints in the skull close prematurely, causing pressure on the skull/face bones 
• Distinctive features such as a long head with a high forehead, wide-set and bulging eyes, and an underdeveloped midfacial region
• Obstructive sleep apnea
• Repeated ear and/or sinus infections
• Hearing loss
• Intellectual delays 
• Webbed or fused fingers and toes 

You can find a more comprehensive list of symptoms and characteristics from the National Organization for Rare Disorders (NORD). While there are no cures for Apert syndrome, surgery can correct some of the fusions, as well as wide-set yes. Additional treatments include eye drops, CPAP, antibiotics, and surgical tracheostomy. If your child has Apert syndrome, please speak with your doctor about the best line of care.