Keiry and the strange Rubinstein syndrome, a survival story

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Photograph of the doctroa Sonia del Carmen Chávez Ocaña, in charge of the Molecular Diagnostic and Genetics Laboratory of the Hospital Juárez de México. EFE / Ammy Ravelo

She was barely a few hours old when the doctor noticed that Keiry Yamileth had a blue discoloration on the fingers and toes, although it took a few months to diagnose Rubinstein Taybi Syndrome (SRT), a genetic anomaly that affects most people. organs.

After being transferred to another hospital, it was determined that the blue color – called cyanosis – was due to a heart problem, says her mother, Evangelina Rojas López, in the framework of the International Day of Rubinstein Taybi Syndrome (SRT) .

It was a murmur and foramen ovale (hole in the heart), and Evangelina explains that although her baby was discharged, she soon began to have problems with constipation and recurrent eye infections.

The doctors said it was milk. However, the baby was still having problems defecating, until one day she had to bleed.

“I took her to the (hospital) of La Raza and they did her studies there.” A doctor told me that it was very strange that her fingers were very thick and her feet were dysmorphic, that she looked genetically strange, so she sent her to genetics and They told me I had SRT, “recalls Evangelina.

The little Keiry was barely four months old when she was diagnosed with SRT and immediately underwent several studies that determined that she had low hearing and low vision in the right eye because only half developed.

He also presented an alteration with the mechanics of swallowing due to what he eats by tube and dysphagia (difficulty swallowing), which makes him dependent on oxygen.

Evangelina says she underwent screening during her pregnancy and the results were that the baby was healthy.
But later the specialist who attended her explained that this syndrome is imperceptible in this type of tests.

At present the little one is one year and four months old, but has already gone through three surgeries.

One of them in the lacrimal ducts because it did not present them, a gastrostomy (a probe that connects to the stomach to be able to feed) and a fundoplication (a gastric surgery to treat reflux).

This, Evangelina confesses, is the hardest thing for the baby and for her as a mother.

She adds that sometimes the economic situation is not optimal to be able to give her the quality of life she would like for her daughter.

Evangelina does everything possible “to have the best quality of life” although doctors warned her that due to her heart and lung problems Keiry can enter respiratory or cardiac arrest, in addition to that her life would not be normal because it would not be independent.

The little girl follows each month in medical consultations and they hope that with medicine the hole in her heart closes and she does not have to undergo a surgical procedure for the placement of a catheter.

The SRT is considered a rare disease due to its low incidence since it occurs in one out of every 100,000 live births, emphasizes Dr. Sonia del Carmen Chávez, in charge of the Molecular Diagnostic and Genetics Laboratory of the Juárez de México Hospital.

In Mexico, details Chavez Efe, there are no statistics to determine how many people live with this disease because, he says, the condition is not always diagnosed by ignorance of parents and health specialists.

He stressed that there are certain characteristics that dads can identify in their children, such as size and lower weight, small head, large fingers and toes, and a broad nose.

“With this syndrome there are many problems in the heart, urogenital system, neurological system and vision, in reality these children should be valued by an interdisciplinary group,” adds the expert.

The specialist clarifies that it is a syndrome that is not genetic, in “99% of cases is presented as a new genetic alteration, this is not inheritance from anyone.”

In Mexico there is no specific treatment to be a syndrome that affects various organs, groups of SRT can find support through the Mexican Federation of Rare Diseases (Femexer), who channel parents with specialists.

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