What is the name of the condition that Auggie and PJ have?
PJ and Auggie (fictional character) were born with Treacher Collins Syndrome.
What is TCS?
A change in the gene on chromosome 5 which affects facial development.
What causes TCS?
Nothing. It is a random genetic mutation at the time of conception that could happen to anyone.
Is TCS rare?
Very. 1 in 50,000. PJ is the only child with TCS in the Los Angeles County (that we are aware of).
Does TCS cause developmental or physical delays?
Generally speaking, no. Most cases of TCS have full cognitive function and a normal life expectancy. Although there are normally no physical delays, there can be airway issues which may affect heart health and the ability to breathe well.
Will PJ’s children have TCS?
There is a 50/50 chance that PJ’s children will inherit the TCS gene from him. The only way to ensure that his children do not inherit the TCS gene is to do In Vitro Fertilization (IVF) with genetic testing. We will support PJ’s decision to do IVF if he chooses to do so.
If PJ passes down the TCS gene to his offspring, will they look like him?
There is no way to know. TCS can be incredibly mild or incredibly severe, and some of the severe cases don’t survive.
How many surgeries has PJ had so far?
- Mandibular Distraction : PJ was born with a small, recessed jaw that was blocking his airway (a very common feature of TCS). At 6 weeks old, distractors were surgically placed and the lower jaw was broken twice a day for 17 days to grow over an inch of new bone which opened his airway and enabled him to come home from the hospital without a trach.
- G-tube Placement : PJ was born with a Cleft Palate (another very common feature of TCS) so severe that he couldn’t swallow (cleft palate means a hole in the roof of your mouth). Everything that PJ tried to swallow came up and out of his nose. A G-tube was surgically placed to feed him.
- Craniosynostosis and Cranial Vault Remodel (3) : A birth defect in which the bones of a baby’s skull fuse together too early not allowing the baby’s brain to grow properly. PJ’s skull was removed to saw the section of bone that had fused too early. A second neurosurgery was done to plate his soft spot which wasn't closing. And a third neurosurgery was done for a bone graft to replace the plate that PJ’s body was rejecting.
- Mandibular Distraction Hardware Removal : Removed the distraction hardware that was used in PJ’s original jaw surgery.
- Cleft Palate Repair : PJ had the cleft palate surgically repaired at 14 months of age. With a lot of occupational therapy, he was eating 100% by mouth within a few months.
How many more surgeries will PJ need?
I can give a rough estimate that PJ will need 5-10 more medically necessary surgeries throughout adolescence. He may also choose to have elective, cosmetic procedures once he is old enough to make those decisions for himself and we will support his choices.
Can PJ hear?
PJ has been diagnosed with “moderate to severe hearing loss” and wears a hearing aid called a “BAHA” (bone-anchored hearing aid).
Do we mind having curious people ask us questions?
Not at all! Some people are afraid to ask or afraid that their question may be perceived as rude—but that’s ok! I would rather hear a rude question with the opportunity to turn it into a positive conversation than see rude staring. Rather than stare or try to redirect a child that is staring, just say “HI!” and encourage your child to do the same.