Victor's Journey: 1st Pitt Hopkins Syndrome Moms Retreat

Wednesday, January 29, 2014

1st Pitt Hopkins Syndrome Moms Retreat

Our family hosted the 1st Pitt Hopkins syndrome Moms Retreat in Winston-Salem, North Carolina, November 15 – 17, 2013. The theme of the retreat was Connect, Learn, Collaborate and Rejuvenate, and was designed in the hopes that during these 3 days we would strengthen our connections between Pitt Hopkins syndrome (PTHS) moms, learn from our combined experiences, collaborate to help our children and allow some time to rejuvenate our bodies and minds. Thirty-one PTHS moms from the US, Canada and the Netherlands attended this retreat. Families from several countries joined us virtually through Webex to participate in the seminars.

Retreat Agenda:

Friday:

Meet and Greet: 5:00 pm - 6:00 pm, Theresa's house
Dinner: 6:00 pm - 7:00 pm, Theresa's house
Icebreaker event, connect: 7:00 pm - 9:00 pm, Theresa's house (led by Diane)

Saturday:

Building a Community: 9:30 am – 11:00 am, Wake Forest University (led by Sue, Nancy and Lynn)
Rejuvenate: Group activity--nature walk to Reynolda Village, lunch, and group photo: 11:00 am - 2:30 pm
Getting the Most out of Your IEP and Goals: 2:30 pm - 4:00 pm, WFU (led by Theresa, Jessica and guest speaker, Anne)
Dr. Andrew Kennedy, Researcher PTHS: 4:15 pm – 5:45 pm, WFU (guest speaker, University of Alabama at Birmingham)
Communication / How are you working with your child academically?: 6:00 pm – 7:00 pm, WFU (led by Nicole & Diane)
Dinner at Fratellis, 7:30 pm

Sunday:

Morning connection, 9:00 am - 9:30 am, WFU, (led by Diane, Audrey)
Small Group discussion session, 10:00 am - 11:20 am, WFU, (led by Diane)
Wrap up and Good-byes, 11:20 am - 12:00 pm (led by Diane and Theresa)

The planning team:
Diane Krell, chair
Theresa Pauca, hostess
Audrey Davidow Lapidus
Sue Routledge
Nicole Lenzen

Our Vision

We wish to develop a large community of friends around Victor who:

Allow themselves to be filled with the joy that Victor stirs within people who get to know him for whom he really is: a happy child rejoicing in the smallest things of life, reminding everyone to live for the moment,
Accept the differences brought by people and children with special needs as an integral part of society,
Understand the challenges people and children like Victor face and are willing to be advocates for their needs, and
Want to help make a difference in other people's lives by sponsoring research into rare diseases like Pitt Hopkins syndrome.

Victor's Story

This is Victor, our precious son. Our names are Theresa and Paul. Victor was born in August of 2005. He has a deletion of Chromosome 18q 21.2 – 21.32 / Pitt-Hopkins Syndrome. We also have two wonderful older girls who are typically developing. Our family lives in North Carolina, USA.

Victor is a very happy child, who loves to meet and interact with everyone–a true extrovert. He has dysphagia, which is a swallowing disorder, and has to have his liquids thickened to a honey consistency. Victor has asthma and has been hospitalized many times due to viral respiratory infections. He also has severe food allergies to nuts, dairy, eggs, and kiwi. Victor sometimes holds his breath for a few seconds when he doesn’t seem to be feeling well or is very tired. Victor has developmental disabilities. He rolled over at 9-10 months, sat at 11 months, crawled/bunny hopped at 14 months, stood alone at almost 2 years old, took his first steps at 2, and began walking independently at about 2 1/2 years old. He wears custom orthotic inserts in his shoes to provide proper alignment and added support when walking. He has a little bit of an ataxic gait pattern, and needs help with curbs and stairs.

Victor is very curious, and investigates all things in his environment. His receptive language is much more advanced than his expressive language —he can understand much of what you say to him, but currently is not speaking yet. Pointing has helped Victor tremendously to let us know what he wants and to make choices, and he is beginning to use some signs, putting 2-3 signs together at a time. He also uses a communication app developed by his Daddy for the iPhone/iPad, called Verbal Victor, with much success! We help him learn new things through prompting, repetition, and redirection. Victor loves listening to music, looking at books, playing with tops, watching favorite videos, using the iPad, playing outside, swinging, kicking a soccer ball, going down a slide, pedaling his tricycle and many other things–he enjoys everything that life has to offer! He is a joy and an inspiration to us all!