Mother of Ultra-Rare Infant Seeks Other Families for Support Wieacker-Wolff Syndrome: Melora’s Story

Melora didn’t move much in the womb, just enough to let us know her heart was still beating. Born in 2011, after bed-rest because of preterm labor contractions and at one of the ER visits they decided Melora’s heart-rate was slowing down too much and having trouble getting back up after each contraction.

So they did an unplanned c-section. They might have sent her home if I hadn’t acquired an infection after the surgery. While I was treated, we noticed Melora was having trouble latching on for feeding. Breastfeeding was attempted and ultimately replaced with pumping, but even the bottle was difficult. Melora also seemed more weak and didn’t cry as loud as other babies, and had a “different” look to her hands and feet. So they moved her to the NICU to help her gain weight. She was seen by an orthopedic surgeon and a geneticist who said she had joint contractures and likely a genetic condition, maybe chromosomal. Possibilities have included Rett -, Prader-Willi -, or Angelman Syndrome, and chromosomal mosaicism.
After 2 weeks in the hospital, Melora got to go home.

She’s had PT, OT, and Speech Therapy since she was about 4 months old. At almost 3 years old, she had corrective surgery on her feet. We kept working with her, hoping that we would see some progress in her development. She slowly got better at eating and graduated to solids at about 1 year old. We still have to be careful about what we feed her and always watch for choking.
Her symptoms include hypotonia, speech apraxia, hyperopia with esotropia, ptosis, distal arthrogryposis with ulnar deviation, reduced range in hips knees and shoulders, edema on hands and feet, short stature, short neck, carp-shaped mouth, drooling, oropharyngeal weakness, constipation, GERD, developmental delay, and intellectual disability.

At almost 4 years old, the geneticist we’d been seeing since she was born got the results of her whole-exome sequencing. He worked so hard for us to find out she has Wieacker-Wolff Syndrome, a mutation of her ZC4H2 gene. This gene “may play a role in neuronal development and in neuromuscular junction formation” (genecards.org).

There are no other carriers in our family. Her neurologist says she will eventually start having seizures, but there is little information about what age they’ll start.

This diagnosis occurs in 1/1,000,000 people and is x-linked, usually affects boys, and they often don’t survive infancy. We have been trying to find others with WWS, but we’ve only found two at this point.