My daughter, Bridget, was born with an unknown genetic syndrome. With over 15 specialists caring for her, Bridget continued to mystify the physicians. I termed it Bridgetitis.
It is the term made up by me when Bridget was just four months old. After multiple hospitalizations, we were told Bridget had a never before seen genetic abnormality. We are beyond lucky that while Bridget has a lot of “little” damages she has defied any doctor who put limits on her.
At just three days old, Bridget was admitted to the NICU at Boston Children’s Hospital for tachypnea (very rapid breathing). During her week-long stay Bridget would also be diagnosed with an immature EEG pattern and four holes in her heart (thankfully all but one have closed without medical intervention.)
Quite simply, the nurses saved my daughters life and gave me the best advice ever: Mother’s instinct trumps physician knowledge every time.
In her six short years Bridget has acquired 15 medical specialists, 17 therapists and more diagnoses I never knew existed. Here are just a few:
- Intellectual Disability
- Gastric Reflux
- “Trivial” Patent Ductus Arteriosius
- Slight webbing of her neck, fingers and toes
- Dysmorphic features
- Tethered Spinal Cord
- Sensory Processing Disorder
- Communication delay
- Vasomotor instability (Reynaud’s Phenomenon)
What do all the diagnoses mean? That Bridget doesn’t add up. A child born with a thin brain and slow pattern should not walk or talk. Yet she does, after working very hard and being unwilling to give up. Bridget in her quest to keep doctors jumping (and her parents) has been able to overcome any “no” in her path. It just takes her longer than most.
In June of 2014 we decided that we needed to know more. On a leap of faith we contacted a private geneticists. They performed Exome sequencing (that our insurance paid) and found the PACS1 mutation. The physician was honest in saying that she didn’t know anything about this mutation but we had a starting point.
The doctors who discovered PACS1 were incredibly quick in answering my inquiry. They are willing to work with Bridget’s local geneticist in providing support and avenues of thought.
It’s funny, I always thought a diagnosis would mean an answer not more questions. Yet the support we have found in the 19 other families has been overwhelming. To know that your mother’s instinct should always be followed. To know that science is moving quicker than ever. It all is so important to share our stories.
So that other families do not have to wonder or navigate this rare syndrome life alone. We are trying to raise PACS1 awareness so physicians will know to test for the malformation.