HRHS and 22q11

Cataleya's heart story starts with Hypoplastic Right Heart Syndrome. HRHS basically means that the right ventricle is underdeveloped, and therefore, useless. Cataleya has half a heart and will need a series of 3 open heart surgeries to re-route her blood and make the working half as productive as possible.

Because that's not complex enough, she also has these congenital heart defects:
ASD (Atrial Septal Defect)- a hole in the top of her heart between the left and right atria.
VSD (Ventricular Septal Defect)- a hole in the bottom of her heart between the left and right ventricle
Overriding Tricuspid Valve- because her Right ventricle is so small, the valve that is supposed to be at the top of it is sitting over the left ventricle as well as the right, putting extra strain on the left side.

After Genetic testing that was ordered following her heart diagnosis, Doctors found a chromosome syndrome called 22q11 deletion. A small portion of the 22nd chromosome is missing, and the result is a high risk for over 140 festures, effects, and symptoms including: heart defects, cleft lip/palate, feeding difficulties, pulmonary/vein anomolies, thyroid problems. hearing/vision loss, developmental delays, and increased risk of mental health diagnosis. There are also characteristic physical features associated with 22q11- low placed, asymmetric ears, bulbous nose, small mouth, underdeveloped chin. hooded eyelids, webbed fingers/toes, and small stature for family norms.

The condition is relatively rare- ocurring in 1 of every 4000 births. It is known by several common names- velo-cardio-facial syndrome, Shprintzen syndrome, DiGeorge sequence/syndrome, Sedlackova syndrome, and conotruncal anomaly face syndrome. It wasn't until the early 1990's that it was realized that all of these conditions were one and the same because every patient has different symptoms in varying degrees. Members of the same family- even identical twins- who both have 22q11 will present differently in their medical and developmental needs.

So far Cataleya has her heart defects, hypocalcemia (low calcium- controlled by a supplement), and her multiple feeding issues to thank her 22q11 for. There is no cure or treatment for 22q11, although each symptom can be treated independently.