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Author: Joe Lane

Harper

  • 4 Years Old

  • PTHS – Pitt Hopkins Syndrome

This tiny diva is Harper Grace.  Harper’s gorgeous smile and contagious laugh can truly light up a room.  Although she isn’t able to communicate verbally, it’s amazing how much she can tell us with just a look.  Just by being around her, you can tell that she may be tiny, but she has a big heart and big purpose.

After a fairly uneventful twin pregnancy, Harper and her brother Nolan were born on May 31, 2015.  At around a year of age, while her brother was meeting his milestones, Harper was falling further and further behind.  After going through several rounds of tests, a neurologist diagnosed Harper with Pitt Hopkins Syndrome (PTHS), which is a rare genetic disorder affecting a specific gene in chromosome 18, called TCF4.  There are roughly only 700 diagnosed cases worldwide.  PTHS is characterized by extreme developmental delay, gastrointestinal issues and a lack of speech. 

Harper’s gorgeous smile and contagious laugh can truly light up a room.  Although she isn’t able to communicate verbally, it’s amazing how much she can tell us with just a look.

Harper is four and is striving to achieve developmental milestones.  Because of her developmental delays and motor planning issues, she is nonverbal but is striving to learn how to walk. She participates in speech, occupational, physical and hippotherapy where she is learning to accomplish independent movement and is using an augmentative communication device to express her needs and thoughts. Harper has little body awareness and doesn’t have the necessary protective instincts to help keep herself safe when she’s playing and sleeping. 

Harper, along with her twin brother, has a 2 year old little sister, Mia. Harper is in special needs pre-K at Whitlow Elementary and loves school and seeing her friends and teachers.  She’s a very social little girl, who likes to swing and swim and play with toys that are musical and light up.  She adores music and watching movies with a great soundtrack!

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Photography by Kristi Weaver Photography

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Paige

  • 15 Years Old

  • FOXG1 Syndrome

This hip and happy teen is Paige. Paige is a very happy child that loves her family and pets! She enjoys going to school and hanging out with her typical peer buddies! She gets very excited when she sees the bus arrive to pick her up in the mornings.  Paige also enjoys running errands with mom and dad on the weekends, especially to the “fish” store, because she really enjoys watching them swim around in the big tanks.   Paige giggles at her brother all the time when he makes funny sounds and faces at her. Her giggle warms your heart and brings smiles to those around her.

Paige was born on September 28th 2002.  There were no complications with birth and all her development seem to be going well, until at Paige’s 4-month checkup. Paige’s pediatrician could no longer feel her soft spot and was afraid the sutures in her head had closed up. Skull x-rays were ordered along with a referral to a neurosurgeon.

 At 5 months of age an MRI showed an insult to the brain, which more than likely happened in early utero. Which meant, there was no way to know what caused it.  To better understand her abilities and treat her, geneticist performed several tests, which all came back negative leaving her family desperate for answers.

Paige giggles at her brother all the time when he makes funny sounds and faces at her. Her giggle warms your heart and brings smiles to those around her.

Paige was given many individual diagnoses and was treated by a number of specialists including a Neurologist, Geneticist, Gastroenterologist, Ophthalmologist, a Urologits, Endocrinologist and an Orthopedist.  She was also seen for speech, occupational, physical and vision therapies. 

They treated her for several conditions including Esotropia (crossed eyes), Encephalopathy, Choreoathetosis (Movements), Severe Receptive and Expressive Language Disorders, Cerebral Visual Dysfunction, Partial Complex Epilepsy, Allergic Rhinitis (seasonal allergies), Feeding Problems, GERD, Anemia and Eosinophilic Esophagitis (EE-inflammation or swelling of the esophagus).

 It wasn’t until new Exome testing was available in 2015 that they were able to look at Paige’s DNA, finally received a diagnosis: FOXG1 Syndrome. FOXG1 Syndrome is a rare neuro-developmental disorder caused by a mutation of the FOXG1 gene, which impacts brain development and function. This severe condition is characterized by seizures, inability to control body movements, and lack of speech. While the spectrum of abilities is quite broad depending on the exact genetic mutation, many of the children diagnosed with FOXG1 cannot walk or talk, and struggle to communicate their most basic daily needs. It is possible for parents to be carriers, but most cases of FOXG1 are non-inherited and have no family history. There is no cure for the FOXG1 Syndrome, but with medications, physical and speech therapy and nutritional support to help manage symptoms and prevent complications, a stable quality of life can be achieved.

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Photography by Niki Murphy Photography

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Juana

  • 17 Years Old

  • Encephalitis

Like all sweet little girls, Juana spent her early childhood dreaming of what she be when she grew up.  Her dream was to be a teacher.  She aspired to make a difference, share her knowledge and help others shine.  She loved playing with pencils, books, notebooks, chalkboards and crayons.  She had all the essential tools, enthusiasm, compassion and intelligence needed for the job.  She even had experience.  She loved taking care of all of the children in the family and babysitting was something she excelled at.

When Juana was fourteen, she was excitedly planning  her Quinceanera Party in Mexico.  This celebration was something she looked forward to every day with excitement and sweet anticipation.  Unfortunately, Juana became very ill and never got to enjoy her Quinceanera.  Juana had been sick for two weeks with what doctors had said was the flu.  It seemed to get worse and worse.  She was spending time with her sister Cecilia when she became critically ill.  She had fever, chills and nausea.  Then she developed a significant headache and became incoherent.  Cecilia took her to the ER.  It was a wild ride of examinations without answers before they finally identified the problem.  Her brain was significantly swollen due to encephalitis caused by an autoimmune disorder.  Her brain was so swollen that doctors had to induce a coma.

“Her family chose to continue to fight for a miracle and three weeks later she finally opened her eyes and began to breathe on her own. “

After five days in a coma, doctors said they did not expect Juana to pull through.  She was on life support and they asked the family if they wanted to disconnect her.  Her family chose to continue to fight for a miracle and three weeks later she finally opened her eyes and began to breathe on her own.  Juana never fully recovered.

Juana has endured brain surgery, experiences seizures, is in constant pain and has never regained her functional mobility.  She cannot walk or talk and has difficulty breathing.  Losing her abilities has been challenging for her and her family.  The encephalitis changed her life in a devastating way and has affected her both physically and emotionally.  Our goal is to bring Juana a whole lot of sunshine!  Lifting her spirits, making her smile and bring back some of her joy is our mission!

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Photography by Niki Murphy Photography

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Kessley

  • 4 Years Old

  • Spastic Quadriplegia Cerebral Palsy with Dystonia, Hearing Loss, Epilepsy, Amblyopia and Global Developmental Delay

This sweet and sassy four year old is Kessley.  She is a delightful beauty both inside and out.  Everyone around her is blessed and energized by her presence.  She is not only cute, but also feisty.  This little fighter has proven that she is happy to be here and she will stop at nothing to live a fulfilled life.  She has been a fighter since day one. 

Following a healthy pregnancy, Kessley stopped moving in the womb at 38 weeks gestation.  Upon delivery, they found that this was due to the umbilical cord being wrapped tightly around her body which deprived her from oxygen.  Kessley was immediately intubated following birth.  She had a collapsed lung, needed a blood transfusion and was fighting for her life.  The doctors discovered that she had one very small underdeveloped lung, but the other one was working extra hard to sustain her life.  She had difficulty responding and as a last resort, the pediatrician gave her an epi-pen injection and by the grace of God, it worked.  Her lung inflated enough to get a chest tube in and she was stabilized well enough to be transported to the NICU via helicopter.  In the NICU, she was assisted in her fight for life by a ventilator, chest tube and feeding tube.  Although it was heartbreaking to see her like this, the specialized care helped her to recover and within a few days, she was able to breathe on her own.  Through an MRI, the neonatologist found that there was significant damage to the brain due to lack of oxygen.  He did not expect her to come off of the feeding tube or breathe on her own.  She proved him to be terribly wrong, though! She began therapy in the hospital and was discharged on day 13, breathing and eating on her own.  The tubes were removed and she got to go home.  She was quite the tiny miracle and began to flourish; overcoming obstacle after obstacle.

This little fighter has proven that she is happy to be here and she will stop at nothing to live a fulfilled life.

Kessley has Spastic Quadriplegia Cerebral Palsy with Dystonia, moderate bilateral hearing loss, Epilepsy, amblyopia and global developmental delay.  She wears glasses, hearing aids and uses a power wheelchair to get around and a communication device to make her needs known. She attends regular speech, occupational, physical and hippo therapy where she works diligently to continue to make progress.  She is an incredibly hard worker and it is paying off.

Kessley has a team of loved ones cheering her on and supporting her every step of the way.  One of her biggest fans is her eleven-year-old brother, Tate.  Tate has been by her side since day one and she has proclaimed that he is the best brother in the whole world.  Together, these siblings have hung the moon and will continue to reach beyond the stars.  With such great support, dedication and a strong will to succeed, the sky is certainly the limit!

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Photography by Dinah Sutton Photography

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Juliana

  • 15 Years Old

  • Cerebral Palsy, Hearing Loss, Retinopathy

Juliana was born at 24 weeks weighing 1lb 6oz.  She survived on prolonged ventilator therapy and IV antibiotics for 5 months.  During her stay at the NICU she experienced numerous infections, a surgery for necrotizing enteric colitis, holosystolic murmur, patent ductus atreiosus and neonatal hypothyroidism.  This jovial warrior fought hard and survived all of these treacherous tribulations. 

Later, she was diagnosed with Cerebral Palsy, sensorineural hearing loss in the right ear and retinopathy of prematurity.  She has endured numerous surgeries including eye surgery and leg lengthening surgery. 

“This lively teenager is a miracle who has never allowed her disability to limit her from enjoying life.”

She has been in physical and occupational therapy for fifteen years and continues to focus on her functional targets.  She works diligently towards becoming independent.  She uses a walker in school and a wheelchair for long distances.  She has recently begun to ambulate more independently by holding on to furniture and walking.  This is a cherished sight in her home!  Juliana enjoys therapeutic horseback riding, buddy baseball and summer camp.  

This lively teenager is a miracle who has never allowed her disability to limit her from enjoying life.  She has radiant smile that illuminates the world around her. It was this amazing smile that landed her the role of being an extra in the movie Mother’s Day and also was in the video for TV Teacher together with her sisters.

As any typical teenager, Juliana fights with her sisters over the TV remote, loves technology and spends her time listening to music and watching videos on You-Tube.  She also loves using apps on her iPhone and tablet.

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Photography by Kristi Weaver Photography

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Lexy

  • 11 Years Old

  • Spinal Muscular Dystrophy Type 2 and Hypotonia

Meet Alexas.  Her adorable nickname is Lexy, which fits her well.  She is bright, cheerful and is definitely a take charge kind of girl.  She is a ray of sunshine, not only putting a smile on the faces of those she meets, but also bringing sunshine and hope to others with Muscular Dystrophy.  

Lexy was born in 2007.  When she turned one, her mom realized that she was not progressing like a typical toddler and soon after, she had multiple medical exams that led to a devastating diagnosis of Spinal Muscular Dystrophy Type 2.  This disorder has brought with it medical complications such as pneumonia, low blood sugar, as well as multiple medications, several complex surgeries and the inability to walk. Lexy relies on her wheelchair to get around and machines to help her breathe and clear her lungs.

She is a ray of sunshine, not only putting a smile on the faces of those she meets, but also bringing sunshine and hope to others with Muscular Dystrophy. ” 

Although living with MD is challenging, she perseveres and shines as a leader.  She has served as a local Goodwill Ambassador for Muscular Dystrophy for the past 5 years. In 2015 she was nominated the state Goodwill Ambassador for Muscular Dystrophy. She and her team, Alexas’s Army, have participated in the Walk for MDA five years in a row in which her efforts have raised a significant amount of money for the MDA.  She and her mom promote awareness through speeches and networking at this event and within their community.

 

Although she sometimes questions why she has to live with MD, she has an amazing attitude and inspiring positivity.  Her will to survive and desire to contribute to the good of others is contagious.  This natural born leader loves going to school and adores art.  Her favorite thing in the world is American Girl Dolls.  

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Photography by Birchfield Photography

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Ethan

  • 9 Years Old

  • Cerebral Palsy and Spastic Diplegia

We would like to introduce our 9 year old son Ethan Carson. He is the most funloving, playful kid you will ever meet and asks everyone he encounters, Hey, How are you?He has the most infectious smile and some of his favorite things are race cars, the Georgia Bulldogs, bouncy houses and balls, swimming, video games, music (esp. Luke Bryan!), and the most important of all his iPad! Ethan is also obsessed with watching Fixer Upper and Flip or Flop on HGTVR and talks constantly about beamson the ceiling, lights and fans

While the 9 month pregnancy was a model, all of the troubles that Ethan encountered were during his birth. After a very long delivery, Ethan got stuck in the birth canal, and went without oxygen for a period of time. He spent two days in NICU with a one lung only working at 13%. He was such a fighter though and eventually came through and we brought him home after a week long stay in the hospital. It was not until about 8 months old that we discovered Ethan was not able to do some of the normal things that children his age should be doing. Things like sitting up, crawling, tummy time, etc. were not in line with other babies his age. We then set out to find out what was going on and began our journey with the many wonderful specialists and doctors at Children’s Healthcare of Atlanta. After several seizures, numerous EKG’s, MRI’s, and respiratory issues, at the age two, Ethan was diagnosed with Cerebral Palsy (CP) and the more specific form be Spastic Diplegia. The form of CP and Spasticity Ethan has is a neuromuscular condition of hypertonia manifested as an especially high and constant stiffnessor tightnessin the muscles of the lower extremities. This form of CP and Spasticity can be quite crippling in that it causes some major abilities in his physical movement and obvious issues with just daytoday functions such as dressing, bathing, brushing teeth, combing hair, along with speech delay

He is the most funloving, playful kid you will ever meet and asks everyone he encounters, ‘Hey, How are you?’ 

Ethan has not let his disability become a crutch for himself. In fact, he does not even know that he has this ailment; he crawls, walks in his Kaye walker, and wheels himself in his wheelchair throughout his day as if he was a normal boy not letting his disability define him. He loves going to school each day and of course the School Bus” ride is a highlight that he looks forward too on a daily basis. His favorite meals are pancakes (all day, every day), pizza with chocolate milk and his Mommy’s spaghetti

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Photography by Nicole W Photography

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Ally

  • 4 Years Old

  • B-cell ALL Leukemia

This sassy, pint-sized cheerleader is packed with larger than life girl power.  Ally cheers for the Charlton County Rebels and Kyle Bush; she is a huge NASCAR fan. Ally is also a great fashionista and loves to wear Matilda James, which is chemo friendly clothing.  That’s right, this gorgeous little pumpkin is currently battling cancer.  

Ally was diagnosed with B-cell ALL Leukemia on May 19, 2016, the day before her 3rd birthday. She is considered “high risk” because of how high her white blood cell count was when they diagnosed her. It was bruising all over her body that prompted her parents to bring her to the hospital.  It was a good thing that her body gave them cues to follow, because had they waited, the results would have been devastating.  Doctors said that she would have had uncontrollable bleeding and that her tiny body was working so hard to fight the cancer that her heart would have given out if she wasn’t treated timely. 

“This sassy, pint-sized cheerleader is packed with larger than life girl power.”

Luckily, they caught it at this very critical point and she had a high priority surgery to place her port and she was receiving chemo within 16 hours of being diagnosed. To date, Ally has endured 28 blood transfusions, 29 bags of platelets, 34 lumbar punctures and 2 bone marrow aspirations. She has spent 113 nights in the hospital as well as 42 days in the clinic at the hospital for chemo. Being the intense fighter that she is, she has also survived 4 life threatening infections in her blood stream while receiving chemo.

 

Although she is tough and keeps on fighting, the chemo has taken its toll on her causing her difficulty being able to walk because her legs are so weak. This has been the hardest thing for her because she desperately wants to keep up with her brother, Jay. She now wears braces to keep her feet aligned with her legs so that she doesn’t trip over her own feet. Her will to beat this horrible disease and her passion for the greatest things in life have kept her family strong.  Leaning on that strength and focusing on her beautiful future will get them through as she will continue this battle through the remainder of her treatment, which is scheduled through September 2018.  

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Photography by Niki Murphy Photography

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