A Disheartening Suffering from Harlequin Ichthyosis

A Disheartening Suffering from Harlequin Ichthyosis

While browsing the net and looking for a good stuff to watch. Suddenly, a battled story from Harlequin Ichthyosis popped up. Then, I couldn’t help myself not to cry because of this agony, it is really hard for the parent to be still being brave despite the horrible situations. The  skirmished of Baby Ana’s from this rare condition is such an inspiring stories that circulating online and nowadays, viral for having 1.8 millions views. Baby Ana’s skin cracked minutes after her birth that's why her family needs to focus and took good care of her in a special way. When I looked into her eyes, I can tell that she has the most beautiful soul I have ever seen. She’s just unique yet still a human, still functional and has a feelings too. I believe with a family like that, a lot of people around her who really loves her, she will live a long magnificent life.

What is Harlequin Ichthyosis? Harlequin Ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties and respiratory failure.

The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making it more difficult for affected infants to control water loss, regulate their body temperature, and fight The skin normally forms a protective barrier between the body and its surrounding environment. infections. Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening infections in the first few weeks of life. It used to be very rare for affected infants to survive the newborn period. However, with intensive medical support and improved treatment, people with this disorder now have a better chance of living into childhood and adolescence.

What are the possible causes of this disease? Mutations in the ABCA12 gene cause harlequin ichthyosis. The ABCA12 gene provides instructions for making a protein that is essential for the normal development of skin cells. This protein plays a major role in the transport of fats (lipids) in the outermost layer of skin (the epidermis). Some mutations in the ABCA12 gene prevent the cell from making any ABCA12 protein. Other mutations lead to the production of an abnormally small version of the protein that cannot transport lipids properly. A loss of functional ABCA12 protein disrupts the normal development of the epidermis, resulting in the hard, thick scales characteristic of harlequin ichthyosis.

Does harlequin ichthyosis inherited? This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Do babies with Harlequin survive?  According to the studies, babies diagnosed with Harlequin ichthyosis, the most severe form, rarely survived the first few days of life. However, with recent advances in neonatal care and the advancement of medical care, Harlequin infants do survive and lead fulfilling lives.

Can Harlequin ichthyosis be cured? The thick, plate-like skin of Harlequin type ichthyosis will gradually split and peel off over several weeks. Antibiotic treatment may be necessary to prevent infection at this time. Administration of oral etretinate (1mg./kg.) In addition, severe cases of ichthyosis can be treated systemically with oral retinoids.

My prayer for the entire family! Thank you for sharing your stories.

-written by: MGC@ Mary Grace C. Caparas

-video credit to: Inside Edition youtube channel

 -https://ghr.nlm.nih.gov/condition/harlequin-ichthyosis

#April27

#December12

#Pamy12

#Pamy_12

#bizfriendsownerofficial

#yeheeybizfriends