My son Stefan was born at 38th gestation week because he has stopped growing and our doctor was very concerned with what was happening. His birth weight was 2,55kg.  

After his birth, his hemoglobin was very low, and he had blood transfusion. We stayed at hospital few days more, because doctors wanted to make sure that he is in good condition and then they let us go home.  

Unfortunately, a few weeks after going home he developed jaundice which continued till his second month. Our pediatrician advised me to give him 5ml glucose every day. I was very worried. 

After that we were admitted to hospital and his blood tests showed – high levels of bilirubin, low blood sugar and low hemoglobin. He was transfused for the second time in his second month, but unsuccessfully, because he didn’t accept the blood and received rashes all over his head and body and the transfusion was stopped. Further blood tests revealed high levels of liver enzymes, very high levels of galactose, Arginine, Citrulline and Methionine. As a result, a diagnosis of Galactosemia was made. Doctors advised to stop breastfeeding and lactose free formula was prescribed. 

Once we were back home, I was very concerned with Stefan’s condition and was unsure that we had been given the correct diagnosis. We continued to take regular blood tests and levels of Citrulline, and Methionine stayed high. I decided to have a second opinion and we were admitted in another hospital. Luckily, we found doctors that took his case very seriously and advised us to take a DNA test because they suspected that his diagnosis was wrong.  

Finally, after receiving DNA test results, we had a new diagnosis of NICCD, which didn’t make things any better. It turned out that we are the first case in our country, and no one had heard about this condition. There was so little information about it, and no one knew what to expect and how to treat it. I found a medical article about CD on the internet and decided to write to the professor who wrote it. I was very happy when he replied and that’s how our regular consultations with Professor Takeyori Saheki begun. He advised us to be very careful about his diet, to avoid sugar and foods consisting of high carbohydrates. 

As a baby it was easy to follow this dietary plan because we were at home and Stefan was not capricious and ate the food I prepared for him. He stayed at home till he was 3 years old, because we were advised to avoid infections as they may worsen his condition.  

At 4 years he went to kindergarten. It was very difficult at the beginning to pass this new stage of his life, still knowing too little about CD and how it could affect his life. There were difficulties adjusting his diet to the food children received there and he had his first episode of hypoglycemia… With time, together with the help of teachers he got used to his new life and was happy with all the friends he made there. 

After his first year all his blood test results stayed stable with little deviation. In the kindergarten period, his cholesterol began to increase, and our doctors advised us to begin to use lactose free milk products and to take arginine and Omega3. For about one year his cholesterol levels normalized. 

After kindergarten, came school and it was an even bigger challenge for us. As he grew up, I tried to adjust his diet to his needs, but it was very difficult for me because we didn’t have a dietician in place. He began to practice sports at school, playing football with friends thus he gets tired quickly and needed more food than he used to have. I added more MCT oil to his daily intake and prepared snacks for school. 

Over the years we were lucky enough to meet people who helped us unconditionally. I am highly grateful to Citrin Foundation who guided us! Their friendship and support are so valuable to us, that I cannot imagine our life without them!