Jessi – The Gielow Family

Jessi Lynn Gielow
Jessi was born on November 27, 2007. It was such a joy to have a little girl in our family! At three months old, we noticed that she did not hold her head up well and at six months was not holding things in her hands amongst other developmental issues we observed.

She started physical therapy with hopes to “catch up.” 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 a developmental 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 all tests produced normal results.

The very last test and the least likely to be causing Jessi’s developmental delay was for Pitt Hopkins Syndrome. On August 2, 2012 eight months after the initial test, we received the official results that Jessi had Pitt Hopkins Syndrome.

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

When Jessi was diagnosed, there were only 200 cases worldwide. PTHS is characterized by severe developmental delay, gastrointestinal issues, breathing problems and seizures.

Jessi RD Kid 2016We were deeply saddened by the diagnosis but at the same time relieved at finally knowing after 4 years, what was going on with Jessi’s health.

The past eight years Jessi’s life has been consumed by various therapies which include speech, occupational, physical, music, aquatic and therapeutic horseback riding.

Luckily, she loves going to all of her therapies and gets so excited to go to school. Jessi loves riding the school bus with other children and will be in the third grade this year.

Jessi has a brother Jack, 11, he is very involved in all of her therapies and all the activities we do with her at home. Jessi and Jack adore each other and have a special bond.

We try to make Jessi’s life, as normal as possible and try to expose her to all of the same things an eight year old would like and do. Jessi loves to be around other children, especially her brother, and two cousins.

She loves to be outdoors and spend as much time doing outdoor activities in the summer as possible. She likes going to parks, carnivals, amusement parks and festivals.

We believed that Jessi would never walk but refused to stop pushing her and ourselves. She just recently was able to take seven independent steps.

We know that the road ahead for Jessi will be challenging and only God knows the outcome. Jessi has proven that she is a fighter and we have no doubt that the love and support of friends and family will bring her closer to overcoming this challenge against Pitt Hopkins Syndrome she is facing.

Please welcome Jessi Lynn Gielow into our family of love and support Relentless Detroit. As a 2016 RD Kid, we will stand by Jessi and the Gielow family during this difficult journey she and they are facing.

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