Luca (1.5 years) has broken eleven bones since birth: ‘I didn’t dare to touch him’

Luca (1.5 years) has broken eleven bones since birth: ‘I didn’t dare to touch him’

Pauline was thirty weeks pregnant with Luca when her midwife discovered something remarkable during the ultrasound. Pauline, who had had a peaceful pregnancy until then, said: “Luca’s legs started to deform. The midwife got worried and sent us to the hospital,” she says. “Everything went exactly as planned. Luca was healthy and I felt great.”

nanism

At the hospital, Pauline and her husband Remco found out that Luca may have dwarfism. “They couldn’t say exactly how or what, so an amniocentesis was done. They went from my stomach to my uterus with a needle to take a sample of my amniotic fluid. My amniotic fluid cells have been tested for everything but not OI. †

In the end, the couple was told that nothing crazy had happened and they went home with a sense of relief. “Then we left and thought: we’ll see what happens.”

The delivery went well, but it turns out that Luca’s arm was broken during the delivery. “Even then, doctors had no idea it could be OI. Probably because he recovered so quickly: two days later he was able to use his arm again. That way we worried less and didn’t do more research.”

beeping sound

In the days after the birth, Pauline and Remco treated their new son like any other child. Everything was going well until Luca broke another bone five days after giving birth. I wanted to pull his blanket out from under his body and lifted his ass off the bed so I could push him up a bit. As I did this, I heard a crack and then a deafening scream from Luca. I was shocked: what have I done?

Since then, Luca’s leg has continued to grow. When Pauline changed it, she heard an odd noise every now and then. “It was a crunch like walking on fresh snow. Although I moved his leg a little, he started to cry. We went back to the hospital because it wouldn’t stop. X-rays were taken there. It looked like the thigh was broken.”

great shot

Pauline soon sensed something was wrong, but she didn’t expect Luca’s leg to break. “I barely touched it. Normally it takes a big blow to break something. At first I thought it was very strange, then I started to worry.”

Because the newborn was too small to be cast in a cast, Pauline wrapped the broken leg with a hydrophilic layer. “Nobody could tell us exactly what to do. Even the ergonomist and physiotherapist had no idea.”

Luca had just recovered from his broken femur and a few weeks later disaster struck again. “I lifted it under the armpits to take it out of the box. She started crying really hard and didn’t move when I put her in the car seat. He went to the hospital to take pictures and of course his arm was broken. It shook us.

From that moment the circus started. Inside and outside the hospital, assessment after assessment. “At that moment our world collapsed. At first we thought: what are we doing wrong? The issue of “child abuse” has been raised many times. Amniotic fluid sample taken earlier because this latest event eventually led doctors to suspect that Luca might have OI.”

rare disease

Six weeks after the new DNA check, Luca was finally diagnosed with OI. “This is such a rare condition, that’s probably why it was diagnosed so late. According to Luca’s doctor, the chance of having a child with him is 1 in 20,000, or about 20 cases per year in the Netherlands. I don’t even know OI exists.”

Pauline’s first reaction after the results was relief. I’m glad it wasn’t his fault. There was also a lot of sadness. “From that moment on, we knew it would always stay that way,” says Pauline, who can now give him a place at Remco. “At first we didn’t know what to do. We didn’t know how to catch Luca without breaking things. Things can go wrong with the most careful action. But now we have found a way to come together.”

At one point, Luca broke something three times in one week. “So you really don’t know where to look. He was hospitalized for a while after a buildup of broken bone. That’s why I’ve spent sleepless nights. I didn’t dare to touch my own child anymore, and that’s just terrible because you want to be there for him during that time.”

Luca is currently being treated by the UMC Utrecht. “A team of experts works there for children with OI. Luca has been taking his first drug intravenously every four months since January. This drug slows the function of cells that break down bone, leaving more bone. growing process.”

very careful

Pauline and Remco are very wary of Luca because they know he has OI. Luca also regularly visits the physio to strengthen the muscles around his bones. “It’s great to see you get stronger to take on more. We put the control in your hands: he is the one who can feel his body best. Every day we check if he is ready for something. We are walking. a way with him and they are there for him when and where he needs it.”

It’s not always fun for Luca’s four-year-old older sister, Nova. “We have to narrow it down to more things than we want to. Luca needs a lot of attention, which sometimes makes him feel like he isn’t getting enough attention. Fortunately she is a bit older and understands him, but when she has an older sister from a young age, explaining to her that she is not allowed to touch her little brother. We have to be strict about this because children are unintentionally rude. Playfully tugging on Luca’s hand can cause an outbreak.

Since Luca can only be lifted and touched in certain ways, Pauline and Remco decided they wanted to be the only person to care for Luca. So no babysitters, grandparents, friends or girlfriends. “This constant maintenance can be heavy at times, but it reduces the risk of breakage. Not everyone can look at Luca like that. We realize that this choice also has a huge impact on our own lives, but we like to do it.”

terminally ill

There is no cure for OI, but Pauline is actively looking for other ways to make the illness more tolerable for Luca. “In addition to the medicines that Luca used in the Netherlands, we have been to Sweden twice in recent years for stem cell research. In September and February we received stem cells and in May there is another meeting. We look forward to seeing you. † It is important that this process happens as quickly as possible, because only then will his body absorb these new stem cells.”

Advantage of stem cells

Stem cells are a type of primitive cells that can turn into anything and do anything. In Sweden, very young children with severe OI are given healthy stem cells in a research setting in the hopes that these healthy stem cells will nest among the patient’s OI cells and produce healthy proteins for healthy bones. For example, the quality of the bones of these very young children with OI must be improved.

Despite everything, Pauline is very happy to be Luca’s mother. “At first I doubted myself as a parent. I was often afraid. But now we know how to deal with it and there is so much joy in the house. We appreciate even more the steps Luca has taken. Every step is a big step forward for him and for us.”

What does the expert say?

Ralph Sakkers is a pediatric orthopedic surgeon and coordinates the OI expertise center in the Wilhelmina Children’s Hospital in the UMC Utrecht. Sakkers: “OI is a rare genetic disorder in which a person has weaker bones. These bones can bend and break more easily. The severity of OI varies from patient to patient. One has a serious deformity and deformed bones that break easily, the other has a relatively normal skeletal shape with occasional fractures.”

Cause of OI? “The cells of the human body contain certain codes. These can be compared, among other things, with the software codes that are responsible for protein production by cells. Weak bones in OI are caused by an error in one of the following situations. The ‘software ‘encodes’. Due to this error, the collagen protein is not produced properly, so that the bone tissue is less strong.”

heir apparent

OI is hereditary, which means that the disease can be passed on from one generation to the next. “A clinical geneticist can often tell if a person has OI by looking at their cell code. In addition, there are a number of specific physical properties. In severe cases, people remain small and the bones are bent. It can happen in less severe cases. It may be a relatively normal-shaped skeleton, but OI is recognizable because the whites of the eyes are more translucent and pale blue in color.”

Sakkers advises parents who suspect that their child has an EQ to contact the UMC Wilhelmina Children’s Hospital in Utrecht. “We have a national center there where several disciplines work together intensively, which is important for the best possible treatment of this disease. The permanent team consists of an orthopedist, pediatric rehabilitation doctor, physiotherapist, pediatrician and pediatrician, as well as all kinds of other specialists. Those who are used to seeing children with OI.

To strengthen the bones, many children with OI take drugs to produce more bone, but unfortunately these drugs do not solve the bone quality problem. “We are constantly looking for other types of drugs that work better, and the ultimate goal will be to fix this software coding flaw in cells,” says Sakkers, who also offers surgical treatment services as a pediatric orthopedic surgeon. “In children with severe OI with twisted bones, we straighten the bones and strengthen these bones with straight metal pins in the marrow cavity of the bone.”

Source: RTL

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