Most parents hold their bundle of joy and chart fruitful futures – imagining the long ambitious life to be lived ahead of them. As cliché as it may sound, nothing is guaranteed. And three families would surely be able to attest to this statement, after their respective children have been diagnosed with three different rare diseases, respectively. For them, the future seems so bleak – and time is certainly of the essence.

Here is a look at three typical children around the world who were by diagnosed with three atypical diseases.

1. The child with the fatal genetic disease


6-year-old Mila Makovec of Boulder County, Colorado was once an extremely active and chatty girl. Today, her vocabulary has shrunk to simple words like “mommy” and “hippo” – and her balance is off as she walks. She is also blind, reducing her to just listening to the movie Frozen instead of watching it.

Mila was diagnosed with Batten disease in December 2016 – a rare disease that affects 1 to 7 in 100,000 people.

Batten disease, or Neuronal Ceroid Lipofuscinoses is a genetically inherited disease. (Mila inherited the genes from both her carrier parents.) It is one of the 50 diseases called lysosomal storage disorders (LSD) where the genetic mutation hinders the cells’ ability to eliminate wastes. Instead, proteins and fats build up resulting in damaged and dead neurons.

Symptoms may take years to exhibit. In Mila’s case, her parents started noticing something was not quite right when she began to stutter at three years old. Three years down the road, she was firmly diagnosed when she turned blind.

Batten disease patients suffer progressive neurological impairment including seizures, blindness, dementia, change in behaviour, loss of motor skills and ability to walk and communicate. Due to its rare status, the disease lacks research and cure, resulting in early deaths in patients. There have been clinical trials that are yet to be proven, but serves as Mila’s family’s source of hope.

2. The child with the cleft disorder that restricts sweat and tears


Ethan Kranig seen here with his parents. He was born with EEC which leaves him with cleft palate, hands, feet and the inability to cry and sweat. Photo credit: YouCaring
Ethan Kranig seen here with his parents. He was born with EEC which leaves him with cleft palate, hands, feet and the inability to cry and sweat. Photo credit: YouCaring

Nine-year-old Ethan Kranig of Prescott, Wisconsin was born with ectrodactyly ectodermal dysplasia-cleft syndrome (EEC), a genetic disease that affects 500 families in the world.

EEC is characterised by clefts to different parts of the body, missing fingers and toes, missing or complete lack of teeth, missing tear ducts and inability to sweat. This is the case for Ethan, as he only has two fingers on each hand and is unable to cry or sweat.

He also has urology and gastrointestinal issues as he was born with his anus clefted to his scrotum and had to have a colostomy bag attached to him. He has since had an anatomy restructure to relieve the blockage. However, doctors aren’t sure how long it will last.

The disease is typically inherited by the child from carrier parents. However, this was not the case for Ethan as both his parents were not carriers. His was a rare case of random genetic mutation when he was conceived, affecting only one person in 10 million people.

Today, Ethan wears dentures and has to be kept cool when it’s hot. He also has undergone 29 different surgeries, including one corneal surgery to prevent him from going blind. The symptoms of EEC are severe and affect the patient’s daily life – but, fortunately it doesn’t affect the life span. Ethan’s mother claims that he acts like other boys his age despite his disorder.

3. The child that cries tears of blood


Ahana Afzal, who oozes blood from her eyes, ears, nose and mouth is left fatigued. Photo credit: Indian Express
Ahana Afzal, who oozes blood from her eyes, ears, nose and mouth is left fatigued. Photo credit: Indian Express

3-year-old Ahana Afzal from India is crying tears of blood, literally. She started having nose bleeds when she was one, due to pneumonia. But, she now bleeds regularly from her eyes, mouth, ears, nose and private parts. The bouts would take place despite having no visible wounds and would leave her weak and exhausted.

Her father, Mohammed Afzal said, “the bleeding occurs for seconds, sometimes minutes, and stops by itself. Sometimes she bleeds twice or thrice in a day, sometimes five times a week. She would become unconscious or semi-conscious during the bleeding, and would also get fits.”

A doctor in Hyderabad has diagnosed Ahana of having hematidrosis – a rare disease where patient oozes blood from multiple orifices. From previous reports, hematidrosis is most likely caused by the rupturing of the capillary blood vessels that feed the sweat glands – causing them to exude blood along with sweat. This may occur under extreme physical or mental stress, although there have been cases where such conditions are not present.

Long-term treatment has yet to be found.However, Ahana’s condition is looking up with multiple transfusions and the bleeding has significantly reduced. MIMS

Read more:
Williams Syndrome: When loving too much can be a disorder
3 diagnostic mysteries solved through DNA sequencing
Living with rare diseases

Sources:
http://www.foxnews.com/health/2017/07/20/family-racing-to-raise-funds-for-daughter-facing-incurable-genetic-disease.html
http://www.denverpost.com/2017/01/20/batten-disease-neuronal-ceroid-lipofuscinoses/
http://www.dailymail.co.uk/health/article-4711638/Boy-t-cry-sweat-rare-cleft-disorder.html
http://www.dailymail.co.uk/news/article-4668746/Toddler-baffles-doctors-India-mystery-condition.html
http://indianexpress.com/article/india/three-year-old-girl-cries-tears-of-blood-hematidrosis-father-looks-towards-kcr-pm-modi-for-help-hyderabad-telangana-4741127/