Children Living with Rare Diseases Spread Awareness and Hope

February 28 is Rare Disease Day. In the United States, a disease is considered rare if it affects less than 200,000 Americans. The purpose of Rare Disease Day is to raise awareness by telling the stories of those who live with these diseases. 50% of rare diseases affect children, and today, we are introducing you to four of these precious little ones. 

Annabelle’s Story

Children Living With Rare Diseases Spread Awareness and Hope | Houston Moms Blog

Two year old Annabelle was born a healthy, beautiful girl. She was developing appropriately until about 6 months of age. Then her parents noticed she was missing developmental milestones, and when she was 9 months old, she was referred to a neurologist.  She wasn’t sitting, crawling, or babbling much. After fighting with insurance to approve genetic testing, Annabelle and her parents had their blood work drawn. They were told the test would take about 8-12 weeks for results; however, they received a phone call with results after 4 weeks.

The genetic testing revealed that that Annabelle has a GNAO1 mutation, joining only 60 other children in the world with this diagnosis. The only question her mother asked when she received the news was what is her life expectancy? The genetics counselor couldn’t answer that question. She hung up with her and immediately called her husband hysterically crying. They just couldn’t fathom losing this beautiful, sweet little girl.  Since the mutation is so rare, Annabelle’s neurologist and geneticist didn’t know much about it.  

Annabelle’s family has connected with other GNAO1 families through social media, and have received much more information about Annabelle’s diagnosis.  There is a broad spectrum of symptoms, depending on the variant.  Some variants are known to cause seizures, and some cause movement disorders.  Every child diagnosed seems to have some sort of developmental delay. Therapy is Annabelle’s only treatment at this time, and she currently attends physical therapy, occupational therapy, and speech therapy each twice a week. She has hypotonia; she isn’t talking, walking or crawling independently, but she is the hardest working little girl! She has made incredible progress and we pray that continues.  Annabelle can now scoot around the entire house, getting to where she wants.  She can get into a sitting position from lying down, and she is walking beautifully in her walker. She can feed herself, and she is beginning to ‘talk’ more.  Annabelle is such a happy, beautiful, sweet, and funny little girl.  She is one of the biggest blessings in her family’s life and they feel blessed that God has entrusted them to be her parents.

To learn more about GNAO1 mutation or donate to research and children with this mutation, visit the Bow Foundation

Kaden’s Story

Children Living With Rare Diseases Spread Awareness and Hope | Houston Moms Blog

Kaden is an adorable six year old little boy who has loving, devoted parents. When he was born, they couldn’t wait for the fun, exciting things that they could share with him. Over time, his pediatrician became concerned because Kaden was not meeting milestones. At the early age of four months, his family started a journey to find out what was going on in his body. They saw a neurologist, who was concerned with his severe low muscle tone and sent him for testing.

As they waited for bloodwork results, at 7 months old, Kaden started having seizures, which put him in the hospital. While hospitalized, he continued having seizures, and doctors decided Kaden needed an EEG and MRI. With every seizure, his oxygen level dropped and the doctors had to start giving Kaden oxygen. During the EEG, he had a nine-minute seizure, and a twenty minute seizure following his MRI. His parents were bewildered and terrified. 

The doctors said things like, Kaden has a chronic illness…He will be in and out the hospital for rest of his life… His life will be harder…He will have limitations… He may not live long.  Both his EEG and MRI showed abnormalities. The MRI showed two lesions, but the doctor wanted to confirm with a specialist before giving an official diagnosis.

Kaden received an official clinical diagnosis on October 12, 2012:: a type of Mitochondrial Disease called Leigh Syndrome. Leigh Syndrome is a neurometabolic disorder that damages the central nervous system {brain, spinal cord, and optic nerves}. Leigh Syndrome is caused by problems in the mitochondria, the energy centers in the body’s cells. The two lesions in Kaden’s brain mean that that portion of his brain is gone and not coming back. What makes having Leigh Syndrome scarier is when Kaden gets sick, it could trigger further deterioration of his brain.

Not only does Kaden have a clinical diagnosis of Leigh syndrome, he also Cortical Vision Impairment with Optic Nerve Damage, and is immune deficient. His family fights every day to keep him healthy and gaining strength. He receives weekly home infusions to boost his immune system and he has several therapists that work with him throughout the week. His parents love Kaden fiercely, fight to give him the best life possible, and continue to hope for a cure. 

To learn more about Leigh Syndrome, visit People Against Leigh Syndrome

Caroline’s Story

Children Living With Rare Diseases Spread Awareness and Hope | Houston Moms Blog

Caroline is 6 years old; she is a twin, and she gets around on a really nifty electric “magic” chair. Caroline lives with a very rare neurodegenerative disease called the Charcot-Marie Tooth Type 2D {GARS} mutation.

Caroline’s family is  blessed that her grandfather’s background is in Biochemistry and medicine {Pediatric Neurosurgery} and that he is connected to so many resources to work towards a cure. Through his practice in neurosurgery, he has saved thousands of lives; however, he is struggling to save the life of his first born grandchild. Caroline’s genetic mutation causes her muscles to atrophy all over her body. She cannot walk or use her hands, and has recently developed severe scoliosis requiring immediate surgery. 

Scientists are working diligently to develop gene therapy that could stop the progression of Caroline’s disease and hopefully someday lead to a cure. Research is on the fast track for Caroline and scientists have duplicated the exact genetic mutation from her DNA. Now, there are two litter of mice with her same genetic mutation, who have her same muscle atrophy.  As of 2017, they have seen progress in Caroline’s mice, giving her family new HOPE!!

Taking a scientific theory to an actual therapy for humans takes a lot of time and even more money. Nearly $1.2 million is needed for the scientists and medical team to move forward with an FDA “Investigative New Drug” trial process to help Caroline and other children with her same disease. Caroline’s safety is paramount and this next step is essential for regulatory approvals. Caroline’s aunt has set up a fund to help with the costs of research for treatments, and possibly a cure. If you would like to donate to this worthy cause, click HERE

To learn more about Caroline and her disease, click HERE

Sydney’s Story

Children Living With Rare Diseases Spread Awareness and Hope | Houston Moms Blog

Sydney is one of approximately 500 people in the entire world that has been diagnosed with BPAN. BPAN {Beta-Propeller Protein-Associated Neurodegeneration} is a extremely rare type of NBIA {Neurodegeneration Brain Iron Accumulation}. Children with BPAN typically have developmental delay, little to no language, multiple seizure types, and make slow cognitive gains. When they reach early adulthood, they are faced with a devastating sudden onset of regression and develop progressive Parkinsonism, muscle spasticity, cognitive decline, and dementia. Sydney will lose all independent mental and physical function. Everything she has worked so hard to accomplish will be taken away. There are no treatments. There is no cure. 

After receiving her devastating diagnosis in January 2017, Sydney’s parents immediately knew they could not allow this future to become a reality for their precious daughter. They found an amazing team of researchers who, in 2012, discovered the WDR45 gene mutation known as BPAN. This led the family to an irreplaceable Facebook BPAN support group were they met more families with this awful diagnosis. This group has been their lifeline through this emotional rollercoaster. 
Sydney and her fellow BPAN Warriors are so very lucky to have such a fantastic team at NBIA Disorders Association working on their behalf. Sydney’s family knew that if they could not help their daughter medically, then they would fight for the people who could! They have successfully raised $32,000 for BPAN research over the past year. Since rare diseases are not given government funding, they know that it’s their job to raise awareness and funds for this ultra rare disorder. They know that sharing Sydney’s story will change the world for our BPAN Warriors.
You can follow Sydney’s journey on Facebook or at Sydneys Song. To make a donation directly to BPAN research please click HERE

Families of children living with rare diseases want nothing more than for their children to have the best quality of life possible. By raising awareness, money is raised for research and treatments, and more is understood about what these families and children go through every single day. 


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