Turning 3 with Peppa Pig and Friends

Last week we celebrated Alexandra’s 3rd birthday with a home full of friends and family. (Photos below)… It was a day filled with special moments and lots of laughs and smiles. Even though I had dreamed that she would be walking by this date, I am okay with the fact that she is making PROGRESS. Even one year ago she was no where near where she is today. She has learned to use her safety reflexes, she is learning her PODD communication system and starting to find her voice, she received a Tobii Dynavox speech generating device with eye gaze and has taken to it so well. She is starting to eat more solid foods and has been able to chew and swallow meat…this skill has taken a long time to learn. She is also so CLOSE to mastering the pincer grasp and that will be huge when picking up food. She can clap, high five and shake your hand like the polite little human that she is. She can take assisted steps and can stand on request from a sitting position, wow! She is continuing to strengthen her arms and shoulders and can stay in a four-point position longer than ever before. She has continued to develop her sensory processing skills and is doing great with loud noises, lights, movement and textures. In fact, she loves most textures…from slimy, to squishy, to soft, to bumpy, to hard and more! Her favorite is the “lotion” sensation…as she will never shy away from a good leg/foot massage or “yogurt hands!”

Below are some pics of her beautiful day… all Peppa Pig themed. Peppa Pig was the first cartoon she really took to…now she adores her. Alexandra will hear the opening music and whip her head around so fast to check out the television. She laughs at appropriate times while watching and she has even memorized some episodes and will start humming along to her favorite songs the characters sing, right on cue. IT IS INCREDIBLE. Needless to say, we think she enjoyed her party and celebrating with some of her friends. A highlight of her birthday party was when she was able to participate with her friends in the “pin the hat on Peppa” game. With assisted steps she made her way to the wall to pin the hat on! Check out the video below.

On Facebook I posted:

To my Alexandra, three years ago, you…our little shining star were brought into the world…a happy and healthy 7 lbs. 15 oz bundle of joy. Being your “mama” has taught me so much in these three short years. I have learned to never take one thing for granted, even the smallest little thing. I have learned patience and acceptance of things we cannot control. I have become stronger and weaker all in the same breath. I am strong for you, yet I fall to moments of weakness when I see others do the unimaginable, walk and talk. You have taught me lessons I never knew I needed to learn. I am grateful for the joy and clarity that you have brought our family. We know what matters most in this world and what doesn’t anymore. Your little “voice” causes us all to take notice and long for the days when we get to hear it again. Your strength is unlike anything I have ever witnessed before as you must spend your days observing the world swirl around you. Thank you for allowing us and trusting in us to be your arms and legs and your voice until you find your own. We will continue to move mountains for you so that you can stand tall on top of them. Thank you, sweet darling, for all the ways you have made our family stronger and love deeper. Happy 3rd Birthday Baby Girl! WE LOVE YOU!

Governor Ducey Proclaims Sept. 18 as Pitt Hopkins Awareness Day in Arizona

In a state with a population of nearly 7 million residents, there are currently only four children diagnosed with Pitt Hopkins Syndrome in Arizona. Matt, Alexandra and I have had the great fortune to have met each of these amazing children and their families — and on multiple occasions too! This year we have exciting news to announce… Governor Ducey has officially proclaimed September 18th as Pitt Hopkins Syndrome Awareness Day in Arizona! We are beyond thrilled that his office accepted our proclamation proposal and that he understands the importance of raising awareness for this incredibly rare disease.

The Pitt Hopkins Research Foundation annually celebrates September 18th as International Pitt Hopkins Syndrome Awareness Day to raise awareness and funding for research and this date was chosen to bring attention to the fact that it is a disorder caused by a spontaneous mutation on the 18th chromosome.

ducey-smallArizona joins several other states that have also successfully proclaimed September 18th as the official day for PTHS awareness, they include: Alabama, Florida, Illinois, Iowa, Missouri, New Jersey (Township of Mantua), Pennsylvania and Texas. Congratulations on achieving this historical milestone! As of the date of publication, the following states are in the process of finalizing their proclamation request: Colorado, Connecticut, Georgia, Michigan, Minnesota, North Carolina, Ohio and Orangeville-Ontario, Canada.

You can find the Governor’s full proclamation below:

WHEREAS, Pitt Hopkins Syndrome is a rare and severe neurological disorder caused by a spontaneous mutation or deletion of the TCF4 gene; and

WHEREAS, Pitt Hopkins Syndrome is characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features; and

WHEREAS, approximately 700 people worldwide have been diagnosed with Pitt Hopkins Syndrome,

WHEREAS, The Pitt Hopkins Research Foundation annually celebrates September 18th as International Pitt Hopkins Syndrome Awareness Day to raise awareness for Pitt Hopkins research, and this date was chosen to bring attention to the fact that it is a disorder caused by a spontaneous mutation or deletion of the TCF4 gene, located on the 18th chromosome; and

WHEREAS, The Pitt Hopkins Research Foundation is dedicated to finding a cure for Pitt Hopkins Syndrome through research, education and advocacy.

Now, THEREFORE, I, Douglas A. Ducey, Governor of the State of Arizona, do hereby proclaim September 18, 2017 as Pitt Hopkins Syndrome Awareness Day and encourage all citizens to increase awareness and understanding of Pitt Hopkins Syndrome.

For those that have not joined her Pitt Crew, we ask that you reconsider. Alexandra and her Pitt “brothers and sisters” around the world need your help. There is no cure for Pitt Hopkins. The effects of this disorder are devastating. Can you imagine life without ever speaking? Never being able to say you love someone? Or never hearing your child say she loves YOU? I can’t imagine it, but we will soon. This is our baby girl’s future that she faces. But with your help, a cure is possible. I just know it. Help us fund a cure. Please help us go #beyondawareness and donate today.


The Arizona Pitt Hopkins kids catch up at one of their “Pitt Party” gatherings. Also joining in the fun were two Pitt mamas from Utah and Kansas!


Pitt Hopkins Awareness Day 2017 Governor's Proclamation

HDACi Meds May Reverse Effects of Pitt Hopkins

The very first grant the Pitt Hopkins Research Foundation made back in 2012 was to the lab of Dr. David Sweatt at the University of Alabama Birmingham. He needed the money to hire the most promising young researcher he could find to devote his career to Pitt Hopkins. He found that in Dr. Andrew Kennedy. They are both scientists with hearts as big as their brains, and the more we learn about science, the more we know how incredibly lucky we are to have them both in our court. Dr. Kennedy just started his career as a professor at Bates College in Maine. Dr. Sweatt is now the chair of the pharmacology Department at Vanderbilt University. This paper is the culmination of their incredible work at UAB… and shows a very promising treatment for Pitt Hopkins.

So what does that mean? It means there is an already FDA approved medicine reversing the symptoms of Pitt Hopkins in mice. It means there is increasing evidence we will be able to reverse symptoms in our children. It means we are actively pursing clinical trials. And it means, more than anything, that we will continue to fight for every little miracle.

Thank you Drs. Kennedy, Sweatt and UAB for doing this amazing work… and to all those who supported it, we cannot EVER thank you enough!

Read full article and report here.

Study suggests new way to treat rare autism disorder

by Bill Synder 

A protein that plays a powerful role in learning and memory may be a key to improving treatment of a rare autism spectrum disorder called Pitt-Hopkins syndrome (PTHS), a new study suggests.

J. David Sweatt, Ph.D., the new chair of the Department of Pharmacology in the Vanderbilt University School of Medicine, has been studying the protein, called transcription factor 4 or Tcf4, for several years.

In a paper published this week by the journal Cell Reports, Sweatt and his colleagues at the University of Alabama at Birmingham (UAB) report that mice deficient in Tcf4 exhibit impairments in social interaction, vocalization, learning and memory characteristic of PTHS.

The impairments were “normalized” when the mice were given small-molecule drugs called HDAC inhibitors, which alter Tcf4-associated gene expression in the brain. The finding suggests that “broadly acting, epigenetically targeted therapeutics … might be particularly beneficial in PTHS patients,” the researchers concluded.

“We are quite excited by these findings, said Sweatt, a Vanderbilt University-trained pharmacologist who formerly chaired the Department of Neurobiology and directed the McKnight Brain Institute, both at UAB.

“Pitt-Hopkins Syndrome is an orphan disease that has not been extensively studied,” he said. “Having identified one potential avenue for possible therapeutics is an important step forward.”

Epigenetics refers to environmental factors that affect DNA transcription, the read-out of the genetic code, and thus gene expression. For example, histone deacetylase (HDAC) enzymes help regulate the way DNA is packaged and transcribed in part through acetylation, by adding acetyl groups to the histone proteins that coordinate gene structure.

Transcription factors like Tcf4 adjust the transmission of signals across the synapses, or gaps between nerve cells, a phenomenon known as synaptic plasticity. A type of synaptic plasticity called long-term potentiation, or LTP, is associated with the brain’s ability to learn, acquire language and lay down memory.

It’s been known for some time that Tcf4 exerts its effects on transcription by attracting HDACs. Drugs called HDAC inhibitors have been long used in psychiatry and neurology to stabilize mood and prevent epileptic seizures. More recently they have been studied as possible treatments for cancer, Alzheimer’s disease and depression.

Through their mouse model, Sweatt and his colleagues connected the observed effects of Tcf4 and HDACs on gene expression in the brain. Their study adds credence to the notion that chemical modification of DNA and DNA packaging can result in to long-lasting behavioral change, even post-developmentally.

Future studies are planned to further investigate the possible use of currently available FDA-approved HDAC inhibitors in the Pitt-Hopkins mouse model, Sweatt said.

The study was supported by the Defense Advanced Research Projects Agency (DARPA), the National Institutes of Health (grants MH57014 and MH104158), Civitan International, the Simons Foundation, McKnight Brain Research Foundation and the Pitt-Hopkins Research Foundation.

Read more here.

Originally published on the Pitt Hopkins Research Foundation website.