Kelly’s Kidz Blog , Helping Families Help Each Other

Jessi’s Journey with Pitt-Hopkins Syndrome

http://blog.kellyskidz.net/2013/09/jessis-journey-pitt-hopkins-syndrome/

Jessi’s Journey

Jessi was born on November 27, 2007.  It was such a joy to have a little girl in our family and join her brother Jack!  Early on we noticed that Jessi struggled to meet milestones.  At three months old we noticed that she did not hold her head up well and at six months she was not holding or reaching for things.  We would ask doctors and they would continually tell us, “she’ll catch up, don’t worry.”  It was very hard to accept and to understand if there was an actual problem without a diagnosis.   At 7 months old while she was at a doctor’s appointment and after I expressed my concern again, she was referred to physical therapy and Early On.   She started getting visits from an Early On teacher and going to physical therapy once a week.  While waiting for Jessi to “catch up,” she saw a geneticist and started numerous blood tests.  Everything came back normal.  When she turned one she was still not hitting her milestones and we were referred to adevelopmental pediatrician to get a better understanding of her global developmental delay.  Jessi had a MRI and an EEG, both with normal results.  Over the next four years she had a CGH microarray analysis and specific genetic testing done.  She was tested for Angelman Syndrome, Prader-Willi Syndrome, Rett Syndrome, Mowat-Wilson Syndrome and CDKL5, again with all normal results.  The very last test, and the least likely to be causing Jessi’s developmental delay, Pitt-Hopkins Syndrome.  On August 2, 2012 after eight months, we received the official results that Jessi had Pitt-Hopkins Syndrome(PTHS).  Pitt-Hopkins Syndrome is a genetic disorder that causes cognitive impairment, developmental delay, seizures, GI problems and breathing problems.  It was such a relief to get an answer after four years of searching.  Getting this answer was the beginning of our healing process, to move on and work on acceptance.

When Jessi was three she got on a bus and started attending school, it was the scariest moment of our life, letting her go out into the world; little did we know what an awesome educational experience it would be for her.  We have been very lucky to have a great bus driver, an awesome teacher and para-pro’s.  Jessi is not able to walk yet or talk but is starting to get onto her hands and knees and trying to crawl and pull herself up.  She is making choices when given two objects by reaching for them.  She has a gait trainer and loves to make a huge mess in the house!  Plus she has the happiest and silliest personality!  Although it can be challenging, we try to do everything we would do if Jessi did not have PTHS.  Jessi does everyday activities with us, like go to the store, the library, the park and attend church.  She goes on bike rides with us in her special needs wike.  We also take her to the carnival and take her on as many rides as we can and we go camping every year.  Jessi also does therapeutic horseback riding and was recently moved from a 15 minute individual session to a 30 minute class, that is progress!  She loves the water and will start swimming lessons in the fall.  It was rather overwhelming to do many of these things the first few times, but after awhile it becomes second nature, the “new” normal.

Although Jessi faces daily challenges, she is the happiest little girl in the world!  She loves to play with musical toys, balls and dolls.  She adores her brother Jack and loves playing with him.  She has shown our family how to live in the moment and take one day at a time.    We have learned more from Jessi in a few years than we would’ve learned in a lifetime without her, that’s what makes this journey worth it!

Thank you to Jessi’s Mom Angie for being our guest blogger this month.

Please visit www.pitthopkins.org for more information.

 

Pitt-Hopkins Awareness Day is September 18th