Pitt Hopkins Syndrome (PTHS)

Overview:
Pitt Hopkins Syndrome (PTHS) is a rare genetic disorder affecting a specific gene in chromosome 18, called TCF4.

Symptoms:
PTHS is characterized by intellectual disability and developmental delay which range from moderate to severe, possible breathing problems and/or recurrent seizures (epilepsy), gastrointestinal issues, and distinctive facial features.

Tests/Diagnosis:
We had a microarray test done on our daughter and that is how we found out her diagnosis. She was found to have a mutation on her 18th chromosome on TCF4 gene.

Treatments:
No treatments, just therapies to help these children to be able to do every day activities.

Resources:

• Chromosome 18 Clinical Research Center - Dr. Janine Cody


• Dr. David Sweatt, Department of Neurobiology, the University of Alabama at Birmingham


• www.pitthopkins.org


• Google groups - Pitt Hopkins support group online.

Personal Story:
Our daughter Lilly was born November 2008. We thought she was perfect. She was very healthy and ate well. As she got older I noticed she wasn't reaching her milestones like she should be. At six months old she wasn't rolling over or even attempting to sit up on her own. I knew something wasn't right. My doctor agreed that something was wrong and got us an appointment at Riley Childrens Hospital in Indianapolis, IN. Lilly had several blood tests done for genetic testing. All kept coming back negative for anything. They decided to do a skin biopsy, which came back inconclusive. They decided to do a muscle biopsy as soon as she was 2 years old. In the meantime I was using a forum called babygaga and a woman on there saw my daughters photo on my profile and sent me a message asking if she had been tested for Pitt Hopkins Syndrome. I messaged her back and said that I wasn't sure but I would check it out. I looked online and saw all the kids on their webside and I was just blown away and how much my daughter resembled those other kids. I called up our Neurologist and asked if we could test for it when they did her muscle biopsy. He said we could and so when we went down for the muscle biopsy they took her blood to test for Pitt Hopkins Syndrome. Five weeks later they called us and said, "well done mom, you were right". She had tested positive for Pitt Hopkins Syndrome. Lilly got her positive diagnosis at 2 years old and is almost 4 now. She doesn't walk yet, but she has learned to scoot all over on her bottom. She is a happy, giggly girl. She rarely cries unless we have gas or constipation, or she's just plain tired. Never in a million years would I have thought I would have a special child and here I am. She is the joy in my life and I don't know what I would do without her in it. Its amazing what these special kids do to your heart and how they change you. Anyone that knows her, falls in love with her personality. She's special to everyone that is in her life.


Contributed by MOM Etta Sammartano