“Caring for these children is like running a marathon everyday”
Africa have a ravenous hunger but can’t eat always what you want or everything you would like.
it Has been 9 months and just over 5 kg in weight . Fat is, for her, a mission almost impossible. It is extremely elastic and has a skin very dark, thick and velvety. But over all it is sweet. Very sweet. His mother, in a loving way, defines it as a “sweet girl” because their blood sugar levels are always fired, quadrupling even normal levels . This small dish has the syndrome, Donohue , a rare disease for which there is barely registered in the world 50 cases , two of them european. And the two spaniards.
Nothing presaged that Africa would be born with this genetic disorder . “ Just had a 5% chance , ” says his mother, Sarah Martinez to ABC. A percentage that have managed to now after a comprehensive genetic study, and two normal pregnancies. “With my eldest son, all went well. Weighed at birth 3.5 kg,” he recalls. “With Africa, everything was normal until the 31st week. They saw that it was very thin. They told Me I had hip estrechita. And I thought, ‘it will be a model,'” recalls the young man.
By not gaining weight, they decided to do the delivery. Africa was born on December 9, 2018 in the 37th week, so the pregnancy came to term. “ it Was very pretty, and just looked malnourished , ” recalls Sara. The small did not reach the 2kg weight that was entered. So I just had to put on weight. But in the ICU of the hospital of San Juan of Alicante everything is complicated.
“With Africa, everything was normal until the 31st week of pregnancy. They saw that it was very thin. They told Me I had hip estrechita. And I thought, ‘it will be model'”
Without knowing how or why, glucose levels in blood began to shoot . At first, the doctors pointed to a possible neonatal diabetes transient . But the staff was unable to control the body of the small Africa. Or the insulin effect was. is “I Had levels of 400 mg/dl ,” says his mother. This extreme resistance to insulin made them suspect.
it Was then when the medical staff decided to send to the Hospital of Cruces, in Bilbao, in the genetic study. “There, there is Maialen Aulestia , the other girl with the syndrome of Donohue”. It was then when the family received the blow. “We are only two cases in Europe,” points out Sara.
clinical Trial in the U.S.
The syndrome Donohue is a rare disease within the same and does not have a cure and it will in the near future. “ I don’t know what is going to be in this world , ” admits Sara, who together with the father, Alberto Sáez, decided not to give up after receiving the worst news, and to be in an impasse because there is little information . “Not even a hospital of reference in Europe, such as La Paz (Madrid), he knew how to treat it. And it is normal. Hardly known. I have to say that all the professionals we have always been treated very well, and still do, but no one knew anything.” After wondering a thousand times what to do with their daughter, Sara turned to the Internet. The Network was his salvation.
it Was as well as Sara discovered to Maialén, the first case of the Spanish and european Donohue. Despite the fact that the small gave him a life expectancy of two years, Maialén has already met the 8. Follow in his footsteps is what Sara and Alberto are intended to now.
Africa, with his parents and brother – JUAN CARLOS SOLER
The parents of the small bilbao have been oriented to the family, the province of alicante. Thanks to them, you know that the only salvation for Africa is in the U.S. In particular, at the National Institute of Health in Bethesda (Maryland), where it is also treated Maialén thanks to a clinical trial with Leptin , a hormone that mainly regulates the appetite but also allows you to control the levels of glucose in the blood. is Africa will be able to access it when he turns 5 years old.
Until then, you need to go covering the basic needs of the small to ensure a minimum quality of life . “This is a race to the bottom. We need to raise all we can. We need to start now,” explains Sara on looking for sponsorships for events, “merchandising”, or any activity that will help them to defray all the expenses arising from the illness and the future treatment in the U.S. “we’d have to travel every 6 months,” says the young, hopeful and excited about judging by the solidarity that already only time your city, Alicante, has shown them.
physical therapy and nutrition
Meanwhile, as I have indicated from Maryland, Africa needs to sustain their life in two costly pillars, physiotherapy and a special diet, plus a multitude of specific care because “ are babies that, with time, they acquire traits of the leprechaun , ” says his mother, and, among other consequences, Africa will have a macrodontia that you must try.
exercise is key in your development . For the moment, she attends three days a week at the hospital and the rest of exercises done in house with Sara, her best nurse. “In physical therapy, the stronger it will be. Africa has a hipotomía very marked, that is to say, has the body of a newborn baby. But neurologically it has been 9 months”, points to the progenitor.
The small suffers no lag whatsoever . Only wants to do things her age: elevate the head, to crawl, turn over… “But their body prevents them from doing so”.
Your diet, of time, is based on bottles of milk home because it is the less sugar it has, mixed with milk, rich in protein and fat to get it to take weight. “And you have to eat 50-70 grams of carbs in the food,” adds his mother. “That amount I have to respect. If I step, to the four hours of eating is going to continue taking sugar very high. I have to ingeniármelas because you need to eat carbohydrates for a good neurological development , ” explains Sara. And is that carbohydrates are key in any power, because, among other aspects, are part of the connective tissue and nervous. However, the sugars are the second source from which they are obtained.
Africa playing in their hammock during the interview – JUAN CARLOS SOLER
The little girl takes also metformin , a drug very common for the treatment of the type 2 diabetes in adults . With him, their levels of sugar, “something” will go down. “Two hours of eating, it is put in 350-400 mg/dl of sugar always. Then, you need four hours to download something How do you explain to a baby that can’t eat until that happens?”, posed by Sara. Because, among other consequences of this disease, is that Africa goes hungry real and suffer chronic malnutrition because your body is not working normally . The excess of insulin generated by your pancreas hurts all of their organs, which work so rapidly and haphazardly. As well, your kidneys are overworked, filtrándole in the urine with all the nutrients and vitamins that the tiny needs to grow, the heart is beating too fast, so that you have hypertension, the liver is awry… “In short, levels of sugar generated in the blood are incompatible with life ,” sums up Sarah.
A race to the bottom
For that reason, those affected by this disease are the ketone bodies, “that is to say, to have energy, Africa resorted to burning fats instead of glucose and that is very dangerous because you can end up in a coma,” explains the young man as a real expert. “ it Is a uncontrollable diabetes “.
“two hours of eating, it is put in 350-400 mg/dl of sugar always. Then, you need four hours to download something. How do you explain to a baby that can’t eat until that happens?”
A diabetic to prick insulin, lowered the sugar, and eat. “But the body of Africa is not how it works. You can’t do anything,” he admits. Even so, the baby does not want to give up. And what has been shown. Its strength is a surprise to the members of the hospital of San Juan, where he goes every month to reviews.
When he is older, his diet is based on buckwheat, oat milk, millet, quinoa, etc . That is to say, a very strict diet, free of sugars and BIO 100% , as Maialén. “It’s a power face. More than that of a celiac,” says Sara, hoping that one day I can make you some ice cream to at least know what it is. “But this is a problem because the fruit also has sugar. Everything takes sugar, although not what we believe”.
Africa, without being conscious, it has become a authentic fighter. For this reason, their motto is “ Never give up ” (never give up). “ you Are sick but I try to not feel well . I want you to make life normal. I have to do everything possible to make enjoy,” admits Sara, hopeful to travel to the U.S. while preparing for a real marathon in which the goal is not to cure his small, but keep her alive.
[If you want to know how you can help Africa enters its web page Diabetes extreme]
Join the newsletter of the Family and receive free every week in your mail our best news
Or join our whatsapp, is and receive each day on your mobile the most interesting of ABC Family
