Hi, my name is Tommy!
I live with my dad, mom, little brother, and two kitties in North Carolina, USA. As of this page's last update, I was 3 years old.
How it all began...
In 2011, Mom and Dad decided to try to have a baby. They felt lucky (and a little freaked out!) when Mom got pregnant right away.
When Mom was 11 weeks pregnant, she had a first trimester screen. The doctors saw that I had a cystic hygroma, or a growth on the back of my neck that could be a marker of birth defects. Later, Mom also had polyhydramnios (excess amniotic fluid). |
The doctors ran lots of tests to figure out whether something was wrong with me or with Mom. All of the initial tests came back normal. However, when Mom was 32 weeks pregnant, we found out that I was missing a piece of one of my 16th chromosomes (a 16p13.3 microdeletion). This deletion is associated with Rubinstein-Taybi Syndrome.
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Because of Mom's polyhydramnios and my diagnosis (as well as some restrictions in my umbilical cord blood flow and fetal growth), the doctors decided that I should be born two and half weeks early.
They tried to induce Mom's labor, but that didn't end up working out so well, So, I was born by cesarian section at 2:22pm on Tuesday, June 12, 2012. I was 15.75 inches long and weighed 4 pounds 15 ounces. Dad and Mom named me Thomas Michael, after my Grandpa Tom and Grandpa Mike. |
Early days
Dad, Mom and I had been home for one week when I (temporarily) stopped breathing during a feeding. Doctors discovered that I had a urinary tract infection that had spread to my blood, caused by urine refluxing from my bladder to my right kidney.
Later, when I still needed oxygen even after my infection had cleared up, doctors learned that I also have a floppy, underdeveloped airway. This is a condition that doctors expect me to eventually outgrow, but in the meantime, I eat through a gastronomy tube and I receive oxygen by nose when I'm sleeping. |
Latest and greatest
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Despite my early challenges, I am a strong and happy little boy! I am cruising, climbing, and starting to walk. I'm very social and love seeing new places. I go to preschool 5 days a week. I am eating baby food by mouth and learning how to drink from a cup.
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Health conditions
Rubinstein-Taybi Syndrome has been associated with a wide variety and varying degrees of health issues. In case it's helpful to other RTS families out there, here's a list of my health conditions:
- Hydronephrosis due to urinary reflux; urinary tract infections
- Aspiration due to brochomalacia, tracheomalacia, and laryngomalacia
- Chronic leukocytosis (high white blood cell count)
- Immunoglobulin A and myeloperoxidase deficiencies (gone by age 3)
- Immunodeficiency leading to recurrent yeast infections (gone by age 3)
- Glaucoma (surgically corrected)
- Gastric reflux
- Choroid plexus cysts at birth (gone by age 2)
- Undescended testicles (surgically corrected)
- Nearsightedness
- Tethered spinal cord (surgically corrected)
- Sleep apnea (central and obstructive)
- Contractures in fingers, hyperextension of thumbs
- Low muscle tone
- Unresolved PDA and PFO at birth (closed by age 1)
- Hypothyroidism
Our helpers
Dad and Mom have been extremely grateful for the love and support they've received from family, friends, neighbors, and co-workers. I also receive great "expert" help from:
North Carolina Children's Hospital
Cornerstone Pediatric and Adolescent Medicine
Rex ENT Specialists
BAYADA Pediatrics Home Health Care
RHA Howell
Brooks & Chandak Pediatric Dentistry
Adult and Pediatric Specialists
The Sensation Nation
North Carolina Children's Hospital
Cornerstone Pediatric and Adolescent Medicine
Rex ENT Specialists
BAYADA Pediatrics Home Health Care
RHA Howell
Brooks & Chandak Pediatric Dentistry
Adult and Pediatric Specialists
The Sensation Nation