4 Paws on the Catwalk for Mario

I often use this blog to tell stories of dogs who have had a second life made only of beautiful things, but this week we stopped because there is another story I want to tell, and it is that of a child called Mario.

Who is Mario?

Mario is the son of Manuela, a young astrophysicist and researcher, and Giovanni, a policeman from Caserta. Mario suffers from an extremely rare genetic syndrome called CHOPS, described in medical literature with only 13 cases. There are known to be 34 known cases worldwide.

What is CHOPS syndrome?

CHOPS syndrome involves several anomalies that are present from birth (i.e. congenital). The name CHOPS is the acronym for Cognitive impairment and Coarse facies , Heart defects , Obesity , Pulmonary involvement , Short stature and Skeletal dysplasia , which is the list of the main characteristics of the syndrome.

Children with CHOPS syndrome have intellectual disabilities and slowed development of skills, such as the ability to sit or walk. Many children with CHOPS do not speak. Most affected individuals are born with a heart defect known as a patent ductus arteriosus. The ductus arteriosus connects two main arteries, the pulmonary artery and the aorta. The duct is open during fetal development and normally closes immediately after birth. If this does not happen and nothing is done, it can cause rapid breathing, difficulty eating and poor weight gain and, in severe cases, cardiac arrest. More than one abnormality has often been found in children with CHOPS syndrome. In addition to the patency of the ductus arteriosus, multiple ventricular defect (or defects) is sometimes associated. This consists of an abnormal communication at the level of the interventricular septum, the wall that separates the two main cardiac chambers of the heart: the right and left ventricles. Individuals with CHOPS have airway abnormalities that cause problems such as obstructive sleep apnea. These abnormalities can also result in accidental inhalation of food or liquids, possibly resulting in bacterial lung infections (aspiration pneumonia) and chronic respiratory disease.
Children with CHOPS have short stature and overweight. They also typically have skeletal anomalies such as brachydactyly and vertebral anomalies. In CHOPS syndrome, among others, ophthalmological problems (myopia, cataracts, glaucoma...), genital anomalies and gastrointestinal disorders (gastroesophageal reflux, constipation...) are also described.

https://fondazionechopsets.com/la-sindrome-chops/

Mother's story

Manuela tells us that Mario was diagnosed with CHOPS about a year ago, but tells us that already towards the first months of his life, she and her husband had begun to fear there was something very big behind some aspects of Mario's growth. At 5 months old he was diagnosed with multiple ventricular defects, which is why he underwent two cardiac surgeries at the Sant'Orsola hospital in Bologna. To date, Mario doesn't walk, doesn't talk, doesn't hang out with other children due to a very strong respiratory sensitivity which forced him to use oxygen for very long periods. Mario wears hearing aids due to hearing impairment and wears glasses due to high myopia. Despite everything, he is a child who exudes light and happiness.

The CHOPS Foundation

From Mario's diagnosis, in a few months, the CHOPS Rare Diseases Foundation was born, of which Manuela is co-founder and President. The Foundation aims to accelerate the scientific research process in order to find a cure for CHOPS, as well as to raise awareness and help families affected by the same reality. Today they are already financing a scientific project to identify a drug that cures CHOPS and this was possible thanks to the solidarity of many people who decided to donate.

https://fondazionechopsets.com/la-fondazione/la-nostra-storia/

How can we help Mario?

You can donate your 5x 1000 to the CHOPS RARE DISEASES FOUNDATION

Tax code: 91039420475

Furthermore, on Saturday 22 June 2024, at 4pm, a dog-loving event will be held at THE DOG ISLAND DOG CENTER: 4 Paws on the Catwalk, help for Mario and beyond , all the proceeds from that day will go to support the Foundation.

Would you like to participate?

You can contact Cecilia at 331409136 or by email gagliardienci@gmail.com

We at PATFORPET will be there, and you?