Our story

29 days and change.  

Muscle atonia is one of the main characteristics of the syndrome. When someone hears this word, they imagine that a child with Kleefstra syndrome cannot raise their arm properly, is a bit weak, and perhaps slumps a little. However, atonia is located everywhere. In the heart muscle, in the diaphragm, in the lungs. Everywhere. It is this characteristic that led us to the hospital from a simple respiratory infection and into the intensive care unit within the next 48 hours.

 

I don't know how we got here. But everything happened very fast.

Wednesday morning, March 30th, and my sister hears the little one sounding a bit hoarse. At noon, she takes her to an ENT specialist who finds some secretions, but nothing concerning. In the evening, feeling as though something wasn't right, she takes her to the pediatrician who also finds that the little one has a few secretions high up in her throat, which are not concerning, however, since the child can cough and expel them. Nevertheless, within an hour, she develops a 39 fever.

We started antibiotics, antipyretics, and all through Thursday the little one had nebulizer treatments until Thursday night, with severe dyspnea and rapid breathing, we were admitted to the hospital.

On Friday she followed the treatment and on Saturday the doctors discovered, in a new X-ray they took of her, that the infection had moved down to her lungs and she now had pneumonia, and in fact an extensive one. The little girl had no strength to cough and had to have suctions so that the secretions could come out.

But everything happened very quickly.

Within 2-3 hours, oxygen saturation had dropped significantly, tachypnea persisted, and she developed her first pulmonary edema. From the pulmonary edema, we had cardiogenic shock.

The child urgently needed to be admitted to the ICU and intubated. But the unit's beds were 8 and they were all occupied. An empty bed was available only at the Children's Hospital in Athens and at a hospital in Heraklion, but the little girl's health condition prohibited her transfer to another city. «She won't survive going from the 5th to the 6th floor,» the doctors told us. That is why they made a makeshift bed so that the intubation could take place.

Sunday, April 3rd, at dawn, we entered the intensive care unit. And from that day on, a domino effect of bodily reactions and a series of complications began.

For those who don't know, children with Kleefstra syndrome need time. They need time to imitate, to learn to speak and walk. They need time to look at you, to get to know you, and to love you. They need time to react. Just like that, we needed time to be able to fight the infection and get off the ventilator. But when you go into the intensive care unit, time is not on your side.

The little girl's health condition had deteriorated further due to a second germ she contracted from the ward, even before she was admitted to the intensive care unit. Bacteremia and pulmonary edema worsened her condition, and fluid quickly accumulated around her lungs. To drain the fluid, 4 pigtail catheters were placed in her ribs. Pigtail catheters are essentially chest tubes whose purpose is to drain the fluid and air present in the body. However, the pigtail catheters had to be removed relatively quickly to prevent any complications. The complication that occurred was a pneumothorax. Her left lung had a small hole, resulting in the ventilator ventilating the child's lungs while part of the air escaped throughout her body. The pigtail catheters were now draining both the air and the fluid from the lungs, which had also begun to accumulate in the abdomen. A 5th pigtail catheter was placed, which did not appear to drain the abdominal fluid, and very quickly her oxygen saturation dropped and she suffered her first cardiac arrest. 

It was Sunday, April 17, and we had lost the child for 5 minutes. The doctors managed to revive her, but they didn’t think she would last much longer. This was the second time she was on inotropic drugs for her heart; her blood pressure was fluctuating wildly, her fever was very high, and her oxygen saturation wouldn’t rise above 60%.

Two weeks in intensive care and now everything was starting all over again.

From the cardiac arrest and a new blood infection, her kidneys and liver began to function poorly after the arrest episode. Her lungs were not functioning at all on their own, they had tiny little holes and continued to have leaks throughout her body. But the little girl was waking up. The child had lungs that were not working, affected kidneys and liver, but she was fighting it and waking up, and along with her, the ICU doctors were fighting it too.  

Four days after the cardiac arrest, she had to be placed on PRISMA, an intensive care machine that acts as an artificial kidney and essentially performs a type of dialysis. The dialysis helped her, and the next day her oxygen saturation had reached 96–97%. However, her condition was unstable, and even the slightest adjustment to the ventilator caused her oxygen saturation to fluctuate dramatically. Another pneumothorax developed, and the sepsis progressed to the point where there were foci in all her organs.

Early on Holy Tuesday she had another cardiac arrest episode and they brought her back again. For the doctors it was a miracle that she was living with so many problems in her organs and for so many days, and we were hoping for a miracle for her to overcome all of this.

On Holy Wednesday, her legs started turning black from poor blood circulation. 7 days had passed since she was put on the artificial kidney, and all those days the hypothermia and poor circulation had not stopped.

Maundy Thursday, and after 25 days in intensive care, her brain began to be affected as well. One of her pupils began to be slightly larger and the doctors believed that her nervous system had been affected.

Good Friday. A difficult day had dawned. The association with the Passion Week was inevitable. In the morning, the unit's doctor told us that the little girl had very low blood pressure and a low pulse. Indeed, all day long and until 21:15, the child had a blood pressure of 1.8 over 4-4.5 and 26-35 heartbeats. Who can bear to live all day with such a low pulse?;

You know, children with Kleefstra syndrome are very beautiful children.
They are often blonde, with large blue eyes.
Some look like little angels. 
Our child was also a little blonde boy with big blue eyes. 
Now she is an angel in heaven.