Brave 7-year-old Girl Fighting Three Rare Conditions
Now open: Certificate Course in Management of Covid-19 by Govt. Of Gujarat and PlexusMDKnow more...Now open: Certificate Course in Management of Covid-19 by Govt. Of Gujarat and PlexusMDKnow more...
A seven-year-old girl who is battling three rare conditions has been living in the hospital since birth. She is severely immunocompromised and has a form of dwarfism, and a colon birth defect has left her on the transplant list. However, she is not letting her grim situation get her down.

Her mother has been sharing Isabella's medical journey since her daughter was a year old. She became pregnant in 2013 with her first child, no doctor told her or her husband, that anything was wrong. Their daughter was born, in just a few days, her parents would learn how sick she really is.

Within weeks, Bella was diagnosed with three conditions: severe combined immunodeficiency (SCID), Hirschprung's disease and cartilage-hair hypoplasia. The first, SCID, is a very rare disorder caused by mutations in different genes involved in the development of the immune system. She has undergone a bone marrow transplant and currently receives IVIG (Intravenous Immunoglobulin) therapy, made of donor blood, to give her immunity.

Her second condition, Hirschsprung's disease, is a condition that affects the large intestine, known as the colon. The condition is caused by missing nerve cells in the muscles of a baby's colon and renders a newborn unable to pass a bowel movement for several days. Doctors were forced to remove all of Isabella's colon when she was under a year old and have performed at least 21 surgeries.

Lastly, Isabella has cartilage-hair hypoplasia, which is a form of dwarfism. People with the condition are generally of short stature, have very fine and light hair, and are immunodeficient. Despite her conditions, Isabella still loves dancing, singing, and drawing, which her mother shares on social media.

Source:
https://www.dailymail.co.uk/health/article-9292223/Brave-7-year-old-girl-battling-THREE-rare-conditions.html
Dr. G●●●a N P and 9 others like this5 shares
Like
Comment
Share