One can only imagine the joy and excitement that comes with the arrival of a new baby. We were no different from anyone else; we were extremely excited about the arrival of our little girl, Jasey. However, our joy and excitement was overshadowed by tears, questions, and lots of prayers very early in her life. When she was but one week old, Jasey stopped breathing and had to be hospitalized.

We spent a few weeks in the hospital as the doctors worked to find out why she continued to stop breathing. We would be released from the hospital only to return a few days later and stay for one month. Jasey stopped breathing nine times within the first two weeks of her life. She was diagnosed with seizures and was placed on a seizure medicine and a breathing monitor. Over the next few months, thankfully, we did not experience any more episodes of her not breathing.

As Jasey continued to get older, we noticed that she was not hitting milestones that other children her age were reaching. Therefore, she started physical therapy and then added speech and occupational therapies to help with the developmental delays. In addition to seizures and global developmental delays, she also had heart murmurs and was diagnosed with failure to thrive.

Her pediatrician referred us to the Department of Genetics of a local hospital for genetic testing. Jasey went through numerous genetic tests over the next few years of her life and we still didn’t have any answers. So, I started researching children hospitals that specialized in genetic research. I contacted Cincinnati Children’s hospital and we started seeing physicians in the following departments: genetics, pulmonary, neurology, developmental, and orthopedics.

They did a MRI on Jasey’s brain as well as Exome sequencing. The MRI indicated a small cerebellar vermis and the “Exome sequencing identified a deco mutation in PACS1 (R2032; c.607C>T). PACS1, located at chromosome 11q13.1, is a trans-Golgi-membrane traffic regulator that directs protein cargo and several viral envelope proteins” (Further Characterization of the Distinctive Phenotype Associated with PACS1 Mutations: T. Andrew Burrow, M.D.1, Kathleen Collins, M.S. 1, Jennifer Glass, M.S.1).

After years of searching for answers, Jasey has a diagnosis. When she was diagnosed, she was the third person in the world to be diagnosed with PACS1, 1st female in the world, and 1st person in the United States. Jasey continues to receive physical therapy, speech therapy, and occupational therapy. Thankfully, she is making great progress. She is truly a walking miracle. We are continuing to work with Cincinnati’s Genetic department in their quest to learn more about this mutation.

8 thoughts on “Jasey’s Journey: Ultra-Rare PACS1 Genetic Disease”

  1. cynthia says:

    Hi, my grandson just got diagnosis about 3 weeks ago he will be 2 in May.we are kind of shocked by the diagnosis but glad to know what is going on with him.Though I don’t know what the long term prognosis is. So I am curious to hear what others have to say. He has cerebral palsy, and metabolic disorders he need hearing aids and possible cochlear implant, he has a g tube because he aspirated on liquids.he is walking now and hopefully will be able to talk. I just want to gain understanding about this, the doctor said he is intellectually challenged. He will be seeing a cardiologist soon.I just also wanted to ask about his life expectancy.his aunt who is 30 has Ehlers Danlos syndrome so I wondered is there a correlation of the two. He lives in Texas. Thanks

  2. Kim says:

    If you contact the Global Gene Project, they will forward me your contact information.

  3. Elizabeth Breden says:

    My daughter Kelly, 10 years old, was just confirmed with mutation in PACS1!!!! For years she was misdiagnosed as Rett Syndrome due to mistake in blood work at age 3. Kelly is nonverbal , developmentally delayed , slight scoliosis, reflux, constipation. no seizures , no breathing issues, no cardio issues, great receptive understanding , but not great expressive, working with touch screen Dynavox! Would love to share more, were in nj !!!

  4. Elizabeth Breden says:

    PS your daughter is beautiful!!!

  5. Mahjabeen Mustofa says:

    My name is Muniya, My daughter may have the same condition. Please email me if you have time. My daughter Ilona is 33 month old today and I would love to talk to you. My Number is 4168857766 and my email is

  6. Mahjabeen Mustofa says:

    Elizabeth please contact me, I really would like to connect. My daughter is 33 months today, non verbal, not walking.

  7. Kim Miller says:


    Thank you for contacting me via this blog. If you are on Facebook, you can friend me at Kim Hale Miller.


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