Help Oliver Meet Dr. Fahrner at John Hopkins

Hi! My name is Marsha and I am helping raise funds for my Grandson Oliver. He has been diagnoses with a rare genetic disorder called Beck-Fahrner Syndrome. There are only 50 confirmed cases in the world. He has been invited by the leading genetic researcher (Dr. Jill Fahrner) to come and see her at John Hopkins in Baltimore.

If you have ever met our little Oliver - you know he is one of the happiest kids you have ever met! His smile and laugh is contagious! He loves his Monster Trucks and playing soccer. He was diagnosed on December 27th, 2023 and sees a ton of doctors on a weekly basis. Getting the opportunity to see Dr. Fahrner is an amazing step! Unfortunatley, the insurance will not pay for the trip out to see her. I want to do my part to help Oliver get there to meet wih her!

What is Beck-Fahrner Syndrome??

Beck-Fahrner syndrome (BEFAHRS) is a rare genetic disorder caused by a variant (also known as a mutation) in the TET3 (Tet Methylcytosine Dioxygenase 3) gene. The TET3 gene is a protein-coding gene and plays a critical role in the developing brain and in neuronal functioning.

In the case of Beck-Fahrner syndrome, a mutation in the TET3 gene causes the TET3 protein to malfunction or to not to be produced sufficiently, ultimately disrupting normal development and causing health problems.

Beck-Fahrner syndrome was first identified in 2020 and is characterized by global developmental delay and/or intellectually disability with mild to severe intellectual impairment. Affected individuals often have behavioral manifestations, such as autistic features, anxiety, or attention deficit-hyperactivity disorder (ADHD). Most patients have hypotonia (low muscle tone) and distinctive facial features. Some may have seizures and other movement disorders, joint hypermobility, poor feeding, and growth abnormalities, including overgrowth or poor growth.

There is no cure for Beck-Fahrner syndrome. However, a diagnosis allows for appropriate monitoring and treatment of associated symptoms.

If you can help out - that is great! If you cannot - please share to help spread the word.