Leo Noguera Leosdream

greetings our son Leo was born with a very rare genetic disease called Propionic Acidemia
the probability of a delivery with these characteristics is 1 in every 100,000 births
worldwide, the condition may appear a few days after birth, presenting as sepsis
neonatal (infection of the blood) but only an extended screening can certainly corroborate this
diagnosis, most infants born with this genetic error perish during the first crisis
metabolic and some others present symptoms in a later and more hopeful way of life
my son introduced him to the 3 days of born suddenly, that third morning of life he did not want to wake up and
alarmed we went to the nearest medical service the baby was treated for a sepsis when really the
The condition was at a genetic level after that constantly the baby entered and left hospitals
being interned for periods of a few days to little more than a month in its most serious points,
The root of the first false diagnosis that was later discarded, there were sequelae of attrition in several of
his vital organs being the most affected for the moment one of his kidneys in which he was detected a
Renal ectasia level 3 of 4 due to the constant intake of sodium bicarbonate in order to alkalize
your blood and avoid more damage.
his condition was diagnosed with certainty just six months ago in the city of Monterrey and from
that day his life took a total turn of 360 degrees his condition is that he can not decompose
Protein parts and some types of fat due to either a lack or an enzyme that does not work. This
incapacity causes an accumulation of harmful substances that can cause damage to the heart of the
person, liver, brain, and bones. The result may be seizures, delays in normal development
how to walk and talk, and other health problems.
thanks to the detection of their real condition they were able to give it an adequate treatment
which consists of a diet where all proteins of animal origin (veganism) are deleted
also the legumes, legumes and all kinds of nuts, only being able to consume fruits and vegetables as well
as a special formula for people with propionic acidemia called Propimex1, L-carnitine and a
Special formula of hydrolyzed rice called Blemil 2 plus all this combined with therapy guarantees a
correct development both physically and mentally. all this helped him but even so he had many
Metabolic relapses and continued to constantly enter the hospital to be stabilized every
enters the hospital are day after day of blood sampling arterial samples to check the levels
of sodium bicarbonate and for all this and that has been hospitalized since 3 days old battling
a lot to locate the veins to be able to channel it and therefore they have to submit it to very
strenuous pickets trying to find a vein that serves to pass medications or solutions
as sera or glucose these last times that you have been inside the hospital for more pickets you have not achieved
find good veins to channel it so he underwent a small intervention to place him
a central catheter to his short life and have done 7 blood transfusions and have placed 3 catheters
central one in the neck at 3 days of age and two in the chest less than a month ago, transfusions
They are due to the fact that having to take so many samples weakens the blood and can not eat
Rich in iron and other substances can not properly replenish hemoglobin levels in the blood.
also only once has a supply of the formula containing the requirements been provided
special for people with the disease propionic acidemia that formula is provided by the social security
about 5 months ago we received it but in the medical service of Monterrey and here it is requested by
part of the insurance and ah existed a shortage is of utmost importance that the consume this formula since this
formula in conjunction with feeding and care is what can bring our child forward and not
to be able to count on her is being denied the power to have a quality of life, for the moment she does not crawl
he stops just learning to sit alone, a month ago he just sat down if we put him in that position
and they do not have any muscle tone in the legs or arms, we just ask you to support us in what this
within the possibilities we do not have enough resources to be able to cope with the disease
a correct way and that is why our son had many relapses to the hospital.

CaringBridge is a nonprofit social network dedicated to helping family and friends communicate with and support loved ones during a health journey. Learn more about CaringBridge.

To interact with Leo’s website, sign in or register today.

By registering with CaringBridge, you will join over 300,000 people a day who are supporting friends and family members.

Sign In Or Register