Rare & Genetic Diseases

25/10/2025

08/10/2019

There is 75% chance that the next child will not be affected with the Rare Genetic disorder !

07/07/2019

You'll probably have to consult an Endocrinologists, instead of a pediatric or neonate consultants to find out more on Rare Disease.

12/05/2019

A new Born baby must be checked for Electrolytes every week initially in order to monitor the Sodium n Potassium levels. High Potassium is very serious !!!

Ayma, A sharp and lively child, with peak of brain and body development, except Her body wasn't able to retain sodium, got her tiny heart fought and stooped beating due to an unexpected, instant rise in potassium level ,before she reaches the age of only 2 and half years. A Patience of Pseudo Hypo Aldestronism ( PHA ) a rare genetic disease.

13/02/2019

Life Saving information- [rare condition] - Thyroid test for infants, a blood test which is not very common in practice not all of them do it for a new born and most of us have no info to it. All babies should have a heel-prick blood test at five days of age to screen for several conditions. One of these conditions is CHT and this is tested for by measuring a hormone called TSH (thyroid stimulating hormone). TSH is produced by the brain and is a messenger to tell the thyroid gland to make more thyroid hormone, The condition occurs in about 1 in 3,000-4,000 children, is most often permanent and treatment is lifelong.however early diagnoses will help keeping it control, else it will eventually turned to be a very serious concern later at age with a life threatening situation. The Test result should be Negative.

02/02/2019

PHA causes on-birth Jaundice to be accelerated. A Good Sun Light at Morning / Evening can help, however this only depends on summers as to keep's baby body naked for a better exposure due to a better intake of Vitamin D, on the other hand Photo therapy (Single / Bi or Triple ) lights can help reduce it.. Make sure to keep repeating blood tests for total Bilirubin, as an excessive Bilirubin can be dangerous and will affect Brain called as "Kernicterus". ( We need to assure a sodium intake as little but as around 1 to 2 CC in 3 to 4 Oz of Formula.

28/01/2019

Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect regulation of the amount of sodium and potassium in the body. Sodium and potassium are important in the control of blood pressure, and their regulation occurs primarily in the kidneys.