Bridgetitis

holding

What is Bridgetitis?

It is the term made up by me when Bridget was just 4 months old. After multiple hospitalizations, we were told Bridget had a never seen before 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 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 book 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
  • PACS1 Syndrome
  • Laryngomalacia
  • Gastric Reflux
  • “Trivial” Patent Ductus Arteriosius
  • Hypotonia
  • Slight webbing of her neck, fingers and toes
  • Dysmorphic features
  • Short stature (this cracked us up)
  • Tethered Spinal Cord
  • Autism
  • Sensory Processing Disorder
  • Toe-walking
  • Communication delay
  • Vasomotor instability

What does 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. 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. Her sister, Abby, is her biggest cheerleader and supporter. Bridget also has other attributes you will never see written in her medical chart.

  • Best hugger ever
  • Quickest smile
  • Unlimited capacity to love
  • Stubborn (oh so stubborn)
  • Escape artist
  • Ability to laugh with her whole being
  • Addicted to Princesses
  • Puppy lover

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Throughout her life Bridget’s biggest obstacle was her physicians looking at a body part and not the whole child. In the summer of 2014 we traveled to Georgia to meet a doctor who promised she would. And she did. This fall we learned that Bridget has PACS1 syndrome. A rare, very rare, genetic syndrome that only 20-odd children around the world have. The PACS1 gene was found during EXOME sequencing. We are still learning about this syndrome, what symptoms fall into that category and what do not. For example, only 1/3 of the children have autism and no other child has  Reynaurd’s. Simpy put, Bridget’s intellectual disability, facial features and stature are PACS1 everything else is Bridgetitis.

In the meantime, stay tuned. You never know what my girl will do next.

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5 thoughts on “Bridgetitis

  1. Monique Lee

    This is my first time reading your blog, thanks to a post from Lisa on FB. You are one of those truly spectacular moms, being your child’s advocate, no matter what the doctors say. This is hugely important, in my opinion, and makes all the difference.

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  2. Pingback: The Bucket List | Undiagnosed but okay

  3. TheMomCafe.com

    You know, I never knew all the details about your precious little miracle… oh my mama!!!! I am in LOVE with her fierce spirit and what a true warrior and glowing princess you have brought into this world, Kerri!!!

    What a journey you have been on… God really knew who He was choosing when He chose YOU to be Bridget’s mom. PERFECT choice. Obviously. ❤

    Like

    Reply

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