Rare & Genetic Diseases

01/03/2023

08/10/2019

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

07/07/2019

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.

13/05/2019

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.

24/01/2019

Salt Retention Compassion. a PHA Child ll continuously be loosing sodium. which needs to be replaced with Salt.

for infants : Use Hyper tonic Seline ( mix in milk )
for Juniors : mix table salt in water and administrate orally via syringe
Salt can be given through different foods i.e mash potato, Fries etc. but excessive salt on food will let the kid not to have it. so direct salt shorts will help more often.

Remember : Glucose helps retain salt for more time in body.

22/01/2019

There are two types of pha (Dominant and Recessive). Where in dominant the kid outgrows of PHA condition in 2nd year of life. Whereas recessive requires life long treatment.

19/01/2019

Remember, potassium has it's own benifits however elevated levels of K in blood is extremely dangerous, as it's cause blood to clot which may block vessels supplying blood to heart. Every new born should have an electrolyte blood test to identify pseudo hypo aldestronism.To reduce the potassium in blood, we use sodium polestren sulfunate. It's not available widely but can be acquired and of required, It comes in a powder form and mix with water to drink or on kids it may administrate per rectom. Along with this an if of sodium no carbonate can help reducing potassium in blood as salt is the main component which bring down sodium.

18/01/2019

PHA and Adrenal Cortex functionality health check can be assessed with a blood test of your minor for Na & K ( Sodium and Potassium ) also called an electrolytes test whereas Sodium normal range is 135 to 145 milliequivalents per liter (mEq/L) and Potassium normal range is 3.5 to 5.5 (Lower sodium ll push higher Potassium levels, WE ALL SHOULD KNOW ,, HIGHER POTASSIUM also called as " Hyperkalemia IS EXTREMELY DANGEROUS.

18/01/2019

Rear Diseases - an unknown, serious and rear condition.... Killing kids globally..

18/01/2019

Good to know...