Bridget
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
- Laryngomalacia
- Gastric Reflux
- “Trivial” Patent Ductus Arteriosius (heart murmur)
- Hypotonia
- Slight webbing of her neck, fingers and toes
- Dysmorphic features
- Short stature
- Tethered Spinal Cord
- Autism
- Sensory Processing Disorder
- Toe-walking
- Communication delay
- Vasomotor instability (Raynaud’s Syndrome)
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.
Bridget had multiple genetic testing. She ruled out for any known syndrome’s but showed a never seen before genetic abnormality.
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, some of the children have autism and no other child has Raynaud’s.
We have been overjoyed at the support we have received from other PACS1 parents. To know that we are not alone and to be able to talk to other parents for guidance.
To learn more about Bridget please follow her at Diagnosed but Okay
Bridget
PACS1 Smiles 
[…] such a special little girl and has been through an awful lot in her 6 years. I wanted to share Bridget’s story with everyone in hopes of raising awareness for PACS1 Syndrome, a very rare genetic […]
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Hi. My daughter, Lana, who is 21 yrs old was just diagnosed with Pax1syndrome. I have been trying to get her diagnosed since she was a baby and although I’m a bit relieved that I finally have a diagnosis, I haven’t been able to find out much about it. Could you possibly give me some information ? Have you been able to find out things such as life expectancy or anything to look for in the future. My daughter also has vaginal/rectal endometriosis which causes very painful, extremely heavy periods. Would appreciate any info you could provide. Thanks so much and your daughter is beautiful !
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Hi
My cousin’s daughter just got diagnosed with this and I live in Boston – I was wondering if you know of any experts on the disease that might be in the Boston area?
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