Batuhan's Story

Batuhan, 2 ½ years old

🇦🇹 Bürs, Austria

Published April 15, 2024

This is the story of little Batuhan (2 and a half at the time of writing), as told by his mother, Süreyya.

I arrived at the hospital for a scheduled Caesarean section. During the pregnancy, there had been no abnormalities. Batuhan was born by Caesarean section due to premature contractions. He cried briefly, then was handed over for medical examination. Meanwhile, I was on the operating table, sensing that something was wrong. Suddenly, there was cardiac arrest. He was born with severe acute respiratory distress syndrome due to meconium aspiration. Batuhan was resuscitated and immediately intubated, spending several months in a pediatric intensive care unit.

Batuhan in intensive care a few days after birth

When MVID was first diagnosed, it was a shock for all of us, as little is known about this disease and there is little information available on the Internet.

Diagnosis

After 3 to 4 weeks of diagnostic wandering, the genetic test came back positive for cystic fibrosis, but a second check later came back negative. Nevertheless, his condition worsened and the diarrhoea continued. Recently, a doctoral thesis on MVID had been written in Innsbruck: everything matched his condition. At 8 weeks, we received the definitive diagnosis: Batuhan had Microvillous Inclusion Disease through mutation of the Myo5b gene. It was a shock for all of us, as little is known about this disease and there is little information on the Internet.

Thanks to social media, I came into contact with two families with similar experiences. Then I found other people who were affected. After a year, I decided to go online so that concerned people on the Internet could find something and see how we live. This enabled some families to find me(access to Medonline article).

Back home

After a six-month stay in hospital, accompanied by numerous infections, two catheter-acquired septicaemias and my sister's COVID-19 separation, we finally returned home.

First family reunion after 3 months

Parenteral nutrition at home

Batuhan's disease means he can't eat or absorb what he eats. He therefore requires a daily infusion: parenteral nutrition. Every day, the parenteral nutrition is prepared and administered sterile. Once a week, a sterile dressing is changed. The hospital staff taught us these tasks, and at home we were supported by children's home nursing.

Sterile equipment for daily preparation of parenteral nutrition

Now we take care of everything ourselves. We are well trained and we take care of all the hygiene measures. Batuhan is perfused 20 hours a day, which leaves him only 4 hours "free" without a backpack or cable.

Batuhan's central venous catheter, used to infuse his parenteral nutrition.

Our daughter is involved and is sometimes allowed to help set up.

Despite the many difficulties and pains my son endures, he continues to fight and smile. As long as we all keep fighting, there is hope.

In short, life is limited by a backpack and the cables needed for daily parenteral nutrition. In addition, concomitant illnesses make daily life even more difficult. Those affected are further restricted by unforeseen illnesses.

Despite the many difficulties and pains my son endures, he continues to fight and smile. As long as we all keep fighting, there is hope. I believe that everything has a purpose, and even though it's hard to see my son suffer, I know that there are always worse things. That's why I cling to hope. It's important to raise awareness of these children's situation. Our children want to live, and it's up to us to make their lives as easy as possible, while remaining attentive to their needs.

Batuhan and the backpack used to carry his infusion bag

Hope in MVID research

The expectation is that more people will be informed about the disease and that more information will be available on the Internet. More research and knowledge is required, rather than passive acceptance of the situation. Affected people don't just want to be accepted, but to have their situation taken seriously and receive support.

Our children need constant supervision by competent professionals and parents who know about machines and infusions, because they can't simply be entrusted to just anyone.

We are grateful to Ganesh for enabling us to connect online and found an important association that has accomplished something significant. MVID families are proud of him and his work.

We are determined to support him in every way we can.

Süreyya, Batuhan's mother