A Rare Genetic Disorder, a Hopeful Diagnosis

On March 10th, 2009 (Tuesday), I went in to see my Obstetrician, Dr. Gary Harvey, for some serious problems that arose over the weekend. After several tests I was diagnosed with HELLP syndrome at its worst and was given the option of losing our baby and myself or having our little girl at 28 weeks and struggle through the craziness of NICU life. At that time, little Trinity didn’t have a name and was labeled “Baby Girl Goldbar” for several weeks after her birth. She was on a ventilator for a few weeks after she was born. She spent 104 days in the NICU at CMC.

As promised by our neonatologist, our roller coaster ride began. Trinity was diagnosed with Chromosome 13q Deletion about 10 weeks into her NICU stay (we had no idea when she was in utero). This led to a round table style intervention including myself, my husband – Bart, 2 Geneticists from Shodair Children’s, 2 Neonatologists and several NICU nurses.

“Your daughter has what’s called Chromosome 13q Deletion. There are several diagnoses associated with this rare genetic disorder such as: developmental delay, possible Retinoblastoma, hearing and vision loss, facial and body deformities, early death (average life span is 13 years), as well as many others.”

For the past 9 years, we’ve been a very “committed” family to CMC. Actually, all three of our children were born at CMC: 15, 10, and 9 years ago. And although Trinity spent 104 days in the NICU, she spent most of the first 3 years of her life in the CMC Pediatric Inpatient Unit – she was a pretty sick little girl. The Peds Nurses knew us all too well; always making sure they had plenty of orange sherbet in their freezer for Bart.

And although Trinity was pretty sick at the beginning of her life, she started pediatric physical therapy at CMC with when she was 6 months old. At that time, her muscle tone was so low that she was unable to lift her legs or her arms, she was only able to lay on the floor (w/ oxygen in tow). And although we were told by numerous medical providers it would never happen, we were optimistic that some day Trinity would walk.

With our commitment to Pediatric Therapies at CMC, and their commitment to us, Trinity first started “standing” in a stander when she was 3 years old, then transitioned into crawling when she was 4 years old, and walking when she was 5 years old. As far as eating goes, Trinity started pediatric speech therapy when she was 8 months old at CMC with Sarah Elliott, and we’re so proud to say that after her struggles with that (she still doesn’t eat hard, crunchy foods, and still has a g-tube), she’s eating blended foods, which we had been told may never happen. And thanks to CMC’s pediatric occupational therapy staff, Trinity’s learned to use her pincer grasp, self feed, string beads, as well as many other fine motor skills. We’re forever grateful to the awesome therapists at CMC who never gave up on her, they’ve been a real blessing to Trinity and our entire family.

Trinity’s journey has turned into something way bigger than we could have ever imagined. She’s walking, running (for small periods of time), riding a tricycle, swimming with a floatation device, eating blended foods, communicating through sign language, we could go on and on. And with every new year comes another new struggle, sometimes two, but Trinity’s a fighter. She doesn’t know the meaning of the word “quit”. She’s determined to live her life to the fullest and we’re determined to give her the most fulfilling life possible, and we owe a lot of that to CMC.