Mighty Mae’s Journey

Mae was diagnosed Sept. 29, 2023 with Nicolaides-Baraitser Syndrome (NCBRS). It is a an incredibly rare genetic condition with only 75 documented cases in literature.

Her first symptom was feeding difficulty. She was hospitalized for a week and came home with a NG Tube for months until she went through surgery to receive a G tube. She is now fed directly to the stomach. We are working hard with a feeding therapist in hopes one day she will take food orally.

After this, we noticed her eye going outward. We found out she is severely nearsighted (-16 prescription) and because of this she has to wear an eye contact. This means she is prone to glaucoma, cataracts, and retinol detachment which needs to be checked frequently. We also patch her eye for 4 hours every day to strengthen her vision in hopes to be able to get muscle surgery soon. She sees a vision therapist to help her with depth perception and tracking.

The next symptom she has is epilepsy. Her first clonic seizure occurred when she was only 10 months old and then more followed with more hospitalizations. The seizures are very difficult and heart breaking to watch. Because of her condition we know they are also difficult to manage even on medication. She gets her next EEG done this summer as well as a MRI on the brain when she is two.

Those with NCBRS also have an intellectual disability ranging from moderate to severe. Currently Mae has stopped meeting milestones but she is on her own timeline and moving in the right direction. She sees a physical therapist every week to work on helping her stand and hopefully walk one day.

Another symptom is language delay. It can vary from limited speech to completely non verbal. Mae sees a speech therapist every week and we are working on using sign language as well as communication in other ways.

Other symptoms listed under her syndrome are distinct facial features that come out more with age, teeth delay/missing, skin sensitivity, prominent joints, sparse scalp hair, scoliosis, autistic-like behaviors, low muscle tone, as well as happy personalities.

Because Mae is so medically complex, we spend a lot of our time at appointments and traveling. Most of her care is up at Penn State Hershey Children’s Hospital, except for her eye doctors which are located at Will’s in Philly and University of Rochester’s Flaum Eye Institue in New York.

With a syndrome so rare, there is so much uncertainty on what symptom she will start to have or how severe it will be so it’s critical for us to financially prepare for things.

Despite all of this, Mae continues to be such a light. She has the most beautiful smile and we have learned so much from her already. She is a fighter and very determined. She continues to overcome so many things that are difficult for her and has brought so many people so much joy. She is our MIGHTY Mae and we thank God for her every day.