When Penelope was born early 2022 we knew she had heart defects and would need treatment. We ended up in PCH for 5 full months, with 4 open heart surgeries, before she was healthy enough to come home. We spent every day in her room and slept in her room every night of those 5 months. She came home September of ’22 and has been doing amazing for the last 2 years.
We recently learned she has a rare genetic disorder, 22q11.2 Deletion Syndrome, also known as DiGeorge Syndrome, which explains some of her medical problems, in particular her heart issues. 22q is the second most common genetic disorder after Down’s Syndrome. It will impact her for life. She will likely have complex medical needs her entire life, and may never attain normal developmental milestones. We’re encouraged that she is such a bright, happy, curious, playful child who
When Penelope was born early 2022 we knew she had heart defects and would need treatment. We ended up in PCH for 5 full months, with 4 open heart surgeries, before she was healthy enough to come home. We spent every day in her room and slept in her room every night of those 5 months. She came home September of ’22 and has been doing amazing for the last 2 years.
We recently learned she has a rare genetic disorder, 22q11.2 Deletion Syndrome, also known as DiGeorge Syndrome, which explains some of her medical problems, in particular her heart issues. 22q is the second most common genetic disorder after Down’s Syndrome. It will impact her for life. She will likely have complex medical needs her entire life, and may never attain normal developmental milestones. We’re encouraged that she is such a bright, happy, curious, playful child who clearly understands far more language than she can speak just yet, and there has been substantial progress in her speech and physical therapies. In particular, having a brother who is younger in age but about the same in development has been very valuable for her growth.
A few days before her 3rd birthday, we felt a strange sensation in her chest with every heartbeat. We rushed her to the ER and they realized her replacement valve from ’22 had collapsed completely and would need to be replaced. They stabilized her and had her in for surgery within a few days. The surgery was successful and she recovered remarkably quickly. We again spent every day and night at her bedside, this time only 9 days in total before being discharged.
She is back on a nasal feeding tube to help with calories, hydration, and importantly her oral medications. She developed a strong aversion to taking her medications while in the hospital, so it will likely be weeks of working to re-acclimate to eating and drinking by mouth and taking her oral medications again before the nasal feeding tube can be removed. She is also working to regain her physical strength after surgery and will need continued physical therapy. We are encouraged by her progress so far but she still has a long healing journey to go!
During a 20-week ultrasound, a heart defect was identified, and her family was told that immediate surgery at birth would correct her issues. After two months at home, Penelope began breathing heavily, failing to gain weight, and was admitted to Phoenix Children’s Hospital during Easter weekend.
We found that Penelope did not have the initial defect we suspected, but rather severe mitral valve disease, a VSD (hole in the heart), and later developed heart block – a condition where her heart cannot maintain a regular heartbeat rhythm. Over our 5-month inpatient stay, Penelope fought hard through 5 different heart surgeries – including repairs, a mitral valve replacement, and placement of a permanent pacemaker. Penelope has suffered seizures due to blood loss during one of her surgeries. With medication, she has not had any further seizure activity since, but it is unknown whether there might be permanent brain damage as a result.
With a new valve and her pacemaker keeping her safe, Phoenix Children’s Hospital discharged us with a hefty medication regimen and NG nasal feeding tube. With ongoing therapy, Penelope is making huge strides to overcome major developmental delays. Her strength and determination are inspiring, and we are truly blessed to be her parents.
We are so blessed to be home with Penelope. She is an incredibly strong fighter!