Health and Me

Ishita Roy

Four Sisters From The Same Family Diagnosed With The Same Rare Brain Condition, All With Weird And Mysterious Symptoms

Heard of mysterious diseases? But have you heard of a disease so rare, and yet is diagnosed among all the siblings. This is what happened with a family in West Virginia, who were left in shock when four sisters from the same family were diagnosed with the same <span>rare brain condition</span>, all one after another. 

Paul and Ashlee Higginbotham, the parents, were shocked to know that their youngest daughter, who was just 18 months old, was diagnosed with <span>Chiari malformation</span>, a rare brain condition. 

However, what followed was no less than a nightmare. Out of six children, four of their daughters had the same diagnoses. 

It is a rare brain condition that occurs when the lower part of the brain does not fit inside the skull. What happens in such a situation is that the brain bulges out of the opening between the skull and the spinal cord. 

Only 1 in every 2,000 people are born with malformation. However, the cause is not yet known. This condition could cause headaches, neck pain, dizziness, and difficulty with balance. It is most often congenital but can be acquired, and treatment depends on its type and severity, ranging from monitoring to medication, or even surgery. 

Dr David Harter, who is the director of pediatric neurosurgery at NYO Langone told CBS News that this condition puts pressure on brain and spinal cord that causes these aforementioned symptoms. Along with those, it could also cause weakness of the limbs, difficulty breathing, scoliosis, and even nerve pain. 

This condition, if left untreated, could cause lifelong pain, paralysis, and nerve damage.

<h2>How Did The Parents Know About Their Daughter's Rare Brain Condition?</h2>

Their youngest daughter Austyn was diagnosed with this condition after her parents noticed her off behavior. The conditions, as Ashlee, the mother explains were, that her daughter was "never content...never smiling, never laughing" and also had mild developmental delays and a tremor. 

Genetic testing made it possible for Austyn to be diagnosed with the rare condition and it was also found that she have had severe compression in her spine and a spinal fluid blockage. 

"The moment when Austyn's MRI results came up on my screen and we read the diagnosis of Chiari malformation, that was the moment our world was flipped upside down," said Ashlee. 

The family travelled all the way to New York City to get Austyn a brain surgery. However, Dr Jeffrey Greenfield, who is a pediatric neurosurgeon at New York Presbyterian Hospital said that surgeons can only remove some of the bone, and the procedure is intended to allow the brain more space and restore flow of spinal fluid. 

<h2>How Did The Brain Surgery Impact Austyn?</h2>

The surgery that happened in March 2023, changed Austyn. Ashlee said that her daughter woke up "ready to go". She also tried to get out of the bed, to walk, and was also "smiley". Ashlee said, "It was like the pain she would always felt was gone, and the pain of surgery did not match what she would always felt."

She told Dr Greenfield, "She was just ready to run lapse around the ICU. You gave me her laugh." 

<h2>The 3 Other Daughters And Their Diagnosis Of This Rare Brain Condition</h2>

However, the parents soon noticed that even their three-year-old daughter Amelia had the same brain condition. Her imaging revealed that she had a tethered spinal cord, which is seen in about 5% of patients who are diagnosed with Chiari malformation. She also underwent a surgery in October 2023, where her tethered spinal cord was snipped. While she recovered quickly, the 7-year-old daughter Aubrey too was diagnosed with the same. The diagnosis also came after the parents noticed how moody she was becoming and that she would often get a UTI.

Aubrey also underwent a surgery in November 2023, and she too recovered quickly. This is when their 11-year-old Adalee began experiencing severe leg pain, which had worsened over the years, and she too was diagnosed with the same. 

"It was such a blur of 'You have got to be kidding'," said Ashlee. However, there is an explanation. Dr Greenfield says that about 10% of these cases are genetically linked. Adalee too underwent her surgery. After four such diagnoses, the Higginbotham's two eldest children were also screened, but did not have the condition. 

"[Dr Greenfield] gave us out family back, and that is the most amazing gift anyone could get," said Ashlee.

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Heard of mysterious diseases? But have you heard of a disease so rare, and yet is diagnosed among all the siblings. This is what happened with a family in West Virginia, who were left in shock when four sisters from the same family were diagnosed with the same rare brain condition, all one after another. Paul and Ashlee Higginbotham, the parents, were shocked to know that their youngest daughter, who was just 18 months old, was diagnosed with Chiari malformation, a rare brain condition. However, what followed was no less than a nightmare. Out of six children, four of their daughters had the same diagnoses. What Is Chiari Malformation?It is a rare brain condition that occurs when the lower part of the brain does not fit inside the skull. What happens in such a situation is that the brain bulges out of the opening between the skull and the spinal cord. Only 1 in every 2,000 people are born with malformation. However, the cause is not yet known. This condition could cause headaches, neck pain, dizziness, and difficulty with balance. It is most often congenital but can be acquired, and treatment depends on its type and severity, ranging from monitoring to medication, or even surgery. Dr David Harter, who is the director of pediatric neurosurgery at NYO Langone told CBS News that this condition puts pressure on brain and spinal cord that causes these aforementioned symptoms. Along with those, it could also cause weakness of the limbs, difficulty breathing, scoliosis, and even nerve pain. This condition, if left untreated, could cause lifelong pain, paralysis, and nerve damage.How Did The Parents Know About Their Daughter's Rare Brain Condition?Their youngest daughter Austyn was diagnosed with this condition after her parents noticed her off behavior. The conditions, as Ashlee, the mother explains were, that her daughter was "never content...never smiling, never laughing" and also had mild developmental delays and a tremor. Genetic testing made it possible for Austyn to be diagnosed with the rare condition and it was also found that she have had severe compression in her spine and a spinal fluid blockage. "The moment when Austyn's MRI results came up on my screen and we read the diagnosis of Chiari malformation, that was the moment our world was flipped upside down," said Ashlee. The family travelled all the way to New York City to get Austyn a brain surgery. However, Dr Jeffrey Greenfield, who is a pediatric neurosurgeon at New York Presbyterian Hospital said that surgeons can only remove some of the bone, and the procedure is intended to allow the brain more space and restore flow of spinal fluid. How Did The Brain Surgery Impact Austyn?The surgery that happened in March 2023, changed Austyn. Ashlee said that her daughter woke up "ready to go". She also tried to get out of the bed, to walk, and was also "smiley". Ashlee said, "It was like the pain she would always felt was gone, and the pain of surgery did not match what she would always felt."She told Dr Greenfield, "She was just ready to run lapse around the ICU. You gave me her laugh." The 3 Other Daughters And Their Diagnosis Of This Rare Brain ConditionHowever, the parents soon noticed that even their three-year-old daughter Amelia had the same brain condition. Her imaging revealed that she had a tethered spinal cord, which is seen in about 5% of patients who are diagnosed with Chiari malformation. She also underwent a surgery in October 2023, where her tethered spinal cord was snipped. While she recovered quickly, the 7-year-old daughter Aubrey too was diagnosed with the same. The diagnosis also came after the parents noticed how moody she was becoming and that she would often get a UTI.Aubrey also underwent a surgery in November 2023, and she too recovered quickly. This is when their 11-year-old Adalee began experiencing severe leg pain, which had worsened over the years, and she too was diagnosed with the same. "It was such a blur of 'You have got to be kidding'," said Ashlee. However, there is an explanation. Dr Greenfield says that about 10% of these cases are genetically linked. Adalee too underwent her surgery. After four such diagnoses, the Higginbotham's two eldest children were also screened, but did not have the condition. "[Dr Greenfield] gave us out family back, and that is the most amazing gift anyone could get," said Ashlee.

four sisters from the same family diagnosed with the same rare brain condition, all with weird and mysterious symptoms

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