Meet Josie: Trisomy 4p
Read some of Josie’s inspiring story:
“Josie was born and we soon discovered she had Trisomy 4p along with a second genetic abnormality of which there are no other known cases (a translocation from 4q to 15q). A doctor told us shortly after she was born, ‘Let’s just say she’s not meant for this world, so don’t get too attached.’ She is now six years old. And I find it horrifying that I don’t believe she receives the same treatments and level of care in all situations that an innocent six-year-old child ought to, because I believe healthcare workers think it’s not ‘worth it.’ I often feel that they think a lower quality of life should just be accepted by us for her and we shouldn’t strive for her to live the best life she can. I feel she is forsaken. I know medical literature often is unclear and even conflicting about her diagnosis and its possible outcomes. I belong to a Facebook group specifically for her trisomy, and while I know many children in the group have been lost and are deeply mourned, there are cases of people with trisomy 4p living into adulthood as well. And I believe wholeheartedly that if healthcare had a better grasp of the full and happy and love-filled lives that people with trisomy 4p can live, that they might be more eager to help support them in achieving that.
I’ve certainly learned more than the average person about medical things all on my own at this point, doing my own research, coming up with my own differential diagnoses, and being like the glue that binds all of Josie’s information and doctors together at a source…
Trisomy 4p’s manifestation often varies, but for Josie it shows up mainly as: epilepsy, mixed muscle tone, complete agenesis of the corpus callosum (no main connecting piece in the middle of her brain), moderate intellectual disability, epilepsy, asthma, severe sleep apnea, Eosinophilic esophagitis (allergen triggers cause her esophagus to swell and narrow), global developmental delays, cortical vision impairment, oblique talus (a foot deformity), hypoplastic teeth (her teeth don’t form enamel properly), and she had pyloric stenosis as a baby (which was resolved with surgery).
She’s a happy silly little girl who loves to go on walks in her wagon, loves riding the bus and going to school, loves chickens and puppies and babies, watching Scooby doo / Mickey Mouse / Paw Patrol / Elmo, and spending time with friends and family. She loves to say hello and interact with anyone and everyone and has never met a stranger or a person she didn’t like. She’s a good friend, and a loving and caring family member. She’s nonverbal but she is very expressive and interactive and empathetic. She just took her first steps about a year ago at age five, and can now walk very short distances with assistance.”
-Josie’s Mom, Lily
Josie’s story is such a beautiful example of how trisomy is compatible with life, joy, and LOVE! (You can read more about trisomy 4p here.)