Lorelai’s Story

Lorelai’s Story as of 2/10/16
2q23.1 Microdeletion SyndroIMG_1571me, 109kb
Cook Children’s Hospital in Fort Worth, Texas, USA

Lorelai is the second child in our family. She was born via c-section after 33 weeks. She spent 12 days in the NICU. She had milestone delays as an infant, however we suspected that was because of being premature. At 1 year of age, she was not able to sit up on her own from lying down. She would eat pureed foods and drink from a bottle, but not from a sippy cup. She was not speaking any words or crawling. There were other delays, as well. She did not have her first tear from crying until 8 months of age and her first tooth did not come in until after a year old. She would gag on solid foods. She began vomiting during meals and bottles, so we took her in for a swallow study at Cook Children’s Hospital in Fort Worth. It was discovered that she was aspirating (liquids were going into her lungs) and she was put on honey thick liquids. We began using thickener anytime she had liquids to drink.

After the swallow study, we were referred to GI to determine why she was aspirating. We also began speech therapy. The GI doctor believed there was more going on due to the fact that she was unable to stand or speak, so we were referred to a Neurologist. The neurologist suspected PVL (peri-ventricular lucromalasia) and performed a brain MRI. The MRI came back normal, so we still had no answers for her delays. The neurologist requested a blood test to check for any other issues, but it would be months before we got the results back, as that neurologist left the practice.

At this point, Lorelai was 1.5 years old. She was now able to crawl, but would not put any weight on her feet. The neurologist set us up with Orthotics and she received AFOs. We also began Occupational Therapy (OT) and Physical Therapy (PT). We were referred to a geneticist and were set up with a new neurologist.  We were able to get the results of the test just before her 2nd birthday, which identified the 2Q23.1 Chromosome Microdeletion . The deletion is 109kb and affects both the MBD5 and OCR4 genes.  The doctor was unable to give us the results during the appointment because the computer systems were down, but he called me the next Monday to explain the results. He sent us to genetics again, although they were not able to provide any new information other than what we had already found out.

We have had hearing tests, ENT evaluations, and EEGs to check for seizures. The hearing tests and ENT evaluations have all come back normal. She is not showing any seizure activity at this time.

Lorelai started walking at 2.5 years old. She is now 3.75 years old and is very vocal with sounds, but does not have any traditional words. She understands what we say very well and uses a few signs to communicate.

She has increased her pureed food texture, but still cannot tolerate solids.

She recently began a preschool program for children with disabilities during the fall of 2015 where she attends for 3 hours a day, 5 days a week. During school they work on her specific goals and general developmental skills. She receives OT, PT, and speech services at school as well as at a private clinic. She is just beginning to use an Augmentative and Alternative Communication Device on an iPad, which will speak for her based on a series of images or words that she selects. We are very excited for her to learn how to communicate more!

Lorelai’s favorite things are books, puzzles, cartoons, and playing with her iPad. She loves chasing her older brother around the house and is a happy little girl! We are very blessed to have her in our lives and we continue to be amazed her progress.