Grace’s Story

Grace’s birth was normal, no complications, and full-term. She reached all her early milestones from birth-4 months: nursed, coo, smile, moved head towards noise, cried for various reasons, and was easily calmed down. When it came to rolling over, she never did it when she reached 5 months. She HATED tummy time. Never did the push-up either. I approached her pediatrician about it and she said to come back in a month, but to do some exercises during the month. After a month, still no progress. Her pediatrician wrote a prescription for her to begin physical therapy and at 8 months old, she began physical therapy at Mercy. Her PT at Mercy recommended enrolling in First Steps for Grace since I was a stay at home mom and she could receive more therapy. Grace met the requirements for First Steps, and a therapist was assigned to her at one years old.

During the course of First Steps, Grace went under numerous MRIs, EEGs, blood test after blood test, and still no results. Two neurologists could not determine the cause for her developmental delay. We finally saw Dr. and she did two different rounds of blood tests and still nothing. Grace’s blood was drawn for the full micro-array to determine the cause of her delay.

During this time, she began to stop moving her left side. She became stiff and refused to bare weight on her left leg. When forced to stand in PT, she would shake and scream in pain. She would scream in pain in the sitting position, laying in a certain position, and when she got a fever from being sick, everything worsened. Her PT with First Steps recommended to see a doctor at Ranken Jordan and that doctor recommended the movement specialist at Children’s Hospital. She was diagnosed with dystonia.

The test results from genetics came back and it was determined that Grace is diagnosed with a rare genetic mutation; she is the fourth in the nation, possibly the world, with this genetic mutation. She is the first female with the mutation. It is so rare, that there is no name and no research on the mutation. The mutation is prohibiting protein from being transferred to one part of her cells to another part that is vital for physical and cognitive development. On the outside, Grace resembles a “normal” look of a little girl, but physically and mentally, she is years behind.

There is no cure, no medicine, no knowledge on what is happening to her. “Intense therapy” is the only recommendation that her doctors gave. Grace is non-verbal, drools, needs a walker to walk, needs maximum assistance in dressing, not potty trained, and needs to be fed most of meals.

Grace can now walk just holding someone’s hand, can stand independently for several minutes without assistance, finger feed almost all foods that are finger fed, and can take a spoon to her mouth and hand the spoon back/ take spoon out of mouth. She is still non-verbal but she has her own way of communicating in certain situations. She constantly smiles, looks, and observes all the kids at Good Shepherd and school. If it wasn’t for the therapists and school, Grace would not be where she is at today.