Meet Some of the USP7 Children

Clara lives in France, she was born in February 2012. She was delayed in sitting, walking and speech. At 2 years old her pediatrician offered to complete various exams. She had whole exom sequencing in 2016 and we learned she had a genetic mutation of USP7. Thanks to the internet and social networks we found Zoé's parents in Rouen (France) who had created a poster called "Wanted Deletion or Mutation of the gene USP7 - chromosome 16". We called Clara’s doctor who confirmed the mutation of the gene USP7 on chromosome 16. Then we contacted Stéphanie and Olivier the parents of Zoé (3 years) and her brother Tom (8 years). We had a video call via the internet and then met for a weekend in St Malo. It was really great to be together. They are now part of the family.  Unfortunately, we were unable to attend the first USP7 conference at the Baylor College of Medicine in Houston, Texas, in early April and meet with other families, but we communicate with some of them by instant messages and video calls.  Clara goes to school and receives speech therapy 3 times a week and is progressing well. 
Foundation for USP7-Related Diseases
Clara
Foundation for USP7-Related Diseases
Tess was born in 2009 and was diagnosed in March 2014 with a mutation of USP7. She believes in good food, frequent swimming, and music she can dance to. She enjoys the long winters of Maine and hanging out with her older brother.
Tess
Foundation for USP7-Related Diseases
Zoé was born in 2013 and was diagnosed in July 2016 in Paris with a mutation of USP7 gene. She has a developmental delay and intellectual disability. Since birth she has had feeding issues and now has a g-tube. She has really progressed, thanks to a program of therapies:  occupational, physical, and horse therapy. She's more open, reactive and interactions are better with her. Her super power:  being a super sweet girl!
  
Zoé
Foundation for USP7-Related Diseases
Ella-Marie was born in 1998 and was diagnosed with a deletion of USP7 and c16orf72 on the 16th chromosome in 2012.  At the time, the genetics clinic had no information for us about what this would mean.  Ella-Marie has been diagnosed with Autism and Intellectual Disability.  She has graduated from speech and OT.  In 2016, we connected with other USP7 kiddos and families and Ella-Marie says she now belongs!!  Ella-Marie is very outgoing and friendly but can also be very moody.  She functions about on the level of an 8-10 year old, which is good enough to accomplish a lot!! She's beginning job training skills and continuing her education.  We are excited to see what the future holds!
Ella-Marie
Foundation for USP7-Related Diseases
Ella was born in 2011 and was diagnosed in March 2016 with a mutation of USP7. She is a happy little girl and smiles all the time.  She attends speech, occupational and physical therapy every week. While she is developmentally delayed, nothing seems to hold her back and she continually makes progress!  She makes friends everywhere she goes and especially loves her older brother and sister.
Ella
Foundation for USP7-Related Diseases
Born in 2005, Alice was not diagnosed with her 16p deletion until 2009. Alice is missing eight genes total on her 16th chromosome to include USP7.

Alice's most significant challenge has been severe apraxia of speech. Alice attends speech, physical, and horseback therapy weekly. She began therapies at the age of 18 months and the early intervention has really paid off. Alice is an active, bubbly, curious, smart, and funny girl. She loves to play elaborate games of imagination, swim, spend time with her beloved dog Bambam, and enjoy the great outdoors of Colorado.
Alice
Foundation for USP7-Related Diseases
Georgia was born in 2008 and was diagnosed in August of 2017 with a mutation of the USP7 gene. She is developmentally delayed and has been in different therapies since the age of one. Early intervention was the key to her overall progress! She loves school and loves to learn although it is very challenging for her. Georgia loves to Swim, write, play school and store and tumble in her ACROFITNESS class. She is a friendly little girl who captures the heart of many and is always happy to make new friends.
Georgia
Foundation for USP7-Related Diseases
Watch Justin's Odyssey and learn more about him and his journey to USP7 diagnosis.
Justin