Please join Anthony Mirigliani to help create AWARENESS for PITT HOPKINS SYNDROME on Monday, September 18, 2017 at Chick-fil-A in Mantua, NJ from 5-8 pm. A percentage of the proceeds go directly to the Pitt Hopkins Research Foundation.

If you are unable to join us on Awareness Day please consider donating to the Pitt Hopkins Research Foundation to support Anthony and his friends. Donate in honor of Anthony Mirigliani here:

 

 

 

 

 

Many thanks to the Township of Mantua for signing a Proclamation designating and memorializing “September 18th as International Pitt Hopkins Syndrome Day” in 2013, 2014, 2015 and 2016.

Anthony’s Story…
Anthony was born on July 20, 2004 with Pitt Hopkins Syndrome but was not officially diagnosed until the age of 6. There were some early indications something just wasn’t right. Specifically, at 11 months old his pediatrician said he failed ALL his milestones and needed to start with early intervention. That was the moment I realized my suspicions were coming true and something was truly off with my son. It all hit like a ton of bricks……. he wasn’t just too fat to sit up, too lazy to hold his own bottle, or too cool to make eye contact with me. Early intervention started immediately and therapists were in and out of my house 5 days a week until he went to school at 4 years old. Anthony started to sit up on his own at 2 and took his first steps at 2 1/2. I always remember telling anyone that held him to hold his back tight because he used to thrust himself backwards. Before age 2 1/2, Anthony did not walk on his own but zoomed across the floor in a specialized pediatric walker. We had an appointment one evening with a company to purchase a new/larger one for him. As we were about to walk out the door, Anthony walked across the room on his own. It was truly a miracle and he never needed that walker! Anthony was also born with Strabismus (crossed eyes). To date he had two eye muscle surgeries to correct it. Additionally, he has to go under anesthesia every few years in order to get a teeth cleaning.

Anthony typically has a happy, excitable demeanor with frequent smiling and laughter. He comprehends things well and enjoys playing with other children. He is mostly non-verbal and has poor balance which makes him clumsy. He shouts out and uses his hands to point and touch as a way of communicating. He knows some functional sign language and works with the iPad to decrease his frustrations with communication. Anthony needs help with eating. He is working on using a fork and spoon properly but has issues with portion control. Additionally, he is working on independent tooth brushing and potty training. He receives speech and occupational therapy at school. He plays soccer, baseball and basketball through TopSports in Harrison Township. He is such a fun loving kid. Anthony has had the help of so many wonderful teachers, therapists, aids, bus drivers and peers at Sewell, Centre City, JMT, and now Clearview Middle Schools. I thank all of you who helped him along the way to make Anthony a more typical child in society and our community.

What is Pitt Hopkins Syndrome?

Pitt Hopkins Syndrome (PTHS) is a rare genetic disorder affecting a specific gene in chromosome 18, called TCF4. PTHS is characterized by developmental delay, possible breathing problems of episodic hyperventilation and/or breath-holding while awake (55%-60%), recurrent seizures/epilepsy (40%-50%), gastrointestinal issues, lack of speech, and distinctive facial features. Anthony has not had any seizures but does suffer from gastrointestinal issues along with being non-verbal. As we learn more about PTHS, the developmental spectrum of the disorder is widening, and can also include difficulties with anxiety and ADHD, and sensory disorders.

PTHS is considered an Autism Spectrum Disorder, and some individuals with PTHS have been diagnosed with Autism, with ‘atypical’ autistic characteristics, and/or Sensory Integration Dysfunction. Because of its genetic relationship to autism and other disorders, many researchers believe that curing PTHS will lead to cures for similar disorders. PTHS occurs in both males and females and is not limited to a specific ethnic background.

It is important to note that it is likely that there are many people affected by TCF4 mutations who have mild symptoms. With continued research and awareness of PTHS, we hope to build a more comprehensive understanding of the spectrum of this disorder, and begin the search for a desperately needed cure.

Since the gene that causes PTHS was only found in 2007, currently there are approximately 550 people in the world diagnosed with this syndrome, however we believe there are many more.

Why we fundraise and promote Awareness…

I rally YOU all up each year to help me fight for a cure or even just a better treatment option for Anthony. It is very difficult to ask for help. As Anthony’s parents, we work very hard to take care of his needs on our own. We learned that we needed to put our pride aside and fight so I ask for your help in our journey to find a cure. Lets all work together to help prevent other children being born with this syndrome especially our next generation.

Thank you all for always being so kind to our son and for teaching your own children to do the same……………

FRANK AND CLAUDETTE MIRIGLIANI