Savannah Clay

Age: 18
Cognitive Age: 14
Therapies: speech therapy
Schooling: mainstream school for special needs, transitioned to home schooling during pandemic
Siblings: none
Parent: Jeff Clay

Kabuki Symptoms: VSD, GERD, learning difficulties

 

Savannah's Story: Savannah was born four weeks premature. The first six months were a battle with acid reflux, as every medicine, both over the counter and prescription, were tried to no avail.  Savannah’s formula was continuously changed in an effort to help the situation, but she then suffered from horrible constipation, causing Savannah to suffer with rectal prolapse. Fortunately, doctors were able to treat it without surgery. Finally, a “swallow study” was done. The doctor commented that it was one of the worst cases of reflux he had ever seen. Savannah was diagnosed with Stage 4 GERD. At six months old, she underwent surgery to have a fundoplication (nissen) performed and have a feeding tube (a mickie button) placed. During her stay at Children’s Hospital of Birmingham multiple tests were performed in an attempt to identify the cause of Savannah’s significant mental and physical delays. All the test results came back negative. Their inpatient stay lasted three months! It wasn’t until a geneticist came to visit Savannah’s room, reviewed her chart and assessed Savannah, that she was diagnosed with Kabuki syndrome. 

 

One month after her release from the hospital, Savannah’s family noticed she was having problems breathing.  They took her in to be seen by her pediatrician who said Savannah was having congestive heart failure and to rush her to Children’s Hospital. This was when they found that Savannah had a VSD (ventricular septum defect) and she soon thereafter had open heart surgery at U.A.B. hospital in Birmingham.  Savannah’s surgery was nine and a half hours long!  Following the surgery, the heart surgeon informed the family that Savannah had seven holes in her heart, all of which they were able to repair.

 

When Savannah was two and a half years old her mother, unable to handle Savannah’s medical issues, abandoned her leaving her father Jeff to navigate parenthood of a special needs child alone. Jeff ensured Savannah was enrolled in every program to help her grow and develop. Savannah received physical, occupational and speech therapy weekly for almost a year, and now only receives speech therapy through her IEP at her high school. Despite doctors saying Savannah may never walk without the assistance of metal braces, Jeff worked with her relentlessly to build strength and coordination. “She is always continuing to prove doctors wrong with her fight and determination” dad Jeff says. At four years old, after two weeks of daily practice (and with help from a weighed down plastic toy shopping cart) Savannah took her first unassisted steps!  Now Savannah is not only walking but running independently! Exceling in sports, Savannah participates in the Special Olympics events that are help annually and has won several ribbons for 1st and 2nd place, mainly in running events!  She also loves to play basketball.

 

At age 9, Savannah came home from school with the right side of her arm and shoulder limp. Since she was non-verbal at the time her father Jeff took her to Children’s Hospital. Savannah’s collar bone was broken. Feeling as though doctors thought he might be to blame for Savannah’s injury, Jeff spoke with her teacher the following day. The teacher informed him that Savannah had fallen on the playground but had gotten right up. That same day Savannah had a doctor’s appointment that her father was unable to attend with her (the 1st and only one he missed). Due to her intense fear of doctors, caused by multiple surgeries and time spent in hospitals, Savannah must be restrained at medical visits. Doctors concluded after that Savannah had torn her collar one during her fall at school, but her being restrained at her doctor visit had worsened the injury. To this day Savannah still struggles with things she associates with doctors and hospitals (all white clothing, bright lights, etc).

 

Spending quality time together is so important to Savannah and her father Jeff. Every year they vacation in the mountains of Gatlinburg, Tennessee. Their tradition includes a trip to the Christmas Place store where Savannah gets a personalized Christmas ornament. Jeff proudly shares “I have one for every year since she was born.” Continuing to defy odds, Savannah’s feeding tube was removed when she w s 8 years old, and her and her family haven’t looked back since!  Prior to the pandemic Savannah and her dad Jeff enjoyed going out to eat on Friday and Saturday nights at their two favorite restaurants Los Sombreo’s and the Cracker Barrel.

 

About seven years ago Savannah’s grandfather, Jeff’s father, passed away. Jeff’s mother moved in with he and Savannah. “She is a huge part of Savannah’s life” says Jeff; “she helps get Savannah to school and with her school lessons”. Since the pandemic, Jeff’s sister-in-law also stays with Savannah 3 days a week and assists her with remote learning for school.  Savannah has consecutively made A and A-B honor roll, proving despite her struggles she can exceed in every aspect of life!

 

 

Savannah’s Favorites: Savannah loves to color and being social

Advice for Kabuki families: have faith and never give up hope

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How Savannah has impacted the family: “Each and every day Savannah fights for everything, she literally fought for her life early on, and has continued to fight because she wants to learn, and she wants to grow. Her smile lights up a room and just seeing her smile in the mornings when I go to wake her, is all I need to continue doing what I've done all her life and that’s be her voice, be her protector while being both her mother and father at the same time.  She gives me strength; she is my rock.  She depends on me as much as I do her.”

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All Things Kabuki (ATK) is a registered 501(c)3 non-profit corporation based out of Wasilla, Alaska. We are the only U.S. patient advocacy group supporting the Kabuki community globally. Our mission is to raise awareness, incite research, and support individuals and families affected by Kabuki Syndrome.
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