Milena

Our little Princess, Milena, is always smiling, cute, smart, and caring. She loves travelling, playing her musical instruments for fun, jumping on the trampoline, playing in the playground and most of all spending time with her family, especially her cousins, grandparents, and friends :-) Just like her parents, Milena is totally crazy about the mountains, loves spending time there, and always gets a good portion of energy from the mountains. :-) Milena was born on the 19th of September 2014 in the south of Poland. On the first day of her life everything was fine, but after few days she was diagnosed with VSD and ASD heart defects. The medications she was taking for her heart did not help her and when she was 5 months old, she had open-heart surgery. She was doing pretty well after that, but the surgeon told us she might have a Syndrome (22q11.2 deletion) as she has no thymus which the doctors noticed during the surgery. When she was about 4 years old, we decided to take a genetic test which only confirmed DiGeorge Syndrome. Long before that diagnosis Milena started to have a speech and physiotherapy because she had some difficulties in saying first words and walking as well. She started to walk at the age of 3. Despite we had the diagnosis of DiGeorge Syndrome we somehow knew that something more was wrong because she was having the episodes of weakness which no doctor could explain or even understand. Those episodes started when Milena was about 16 months old. Most of the time she was doing fine, was cheerful and happy, but from time to time she would become extremely fatigued, she could not say a single word, sit straight, grasp toys, or even eat or drink. It usually lasted for about 2 hours and she would wake up in the morning. Sometimes it happened once a week, sometimes more or less often, but almost always after a fever. No doctor could tell us what makes her so weak and sleepy because all the blood tests, including the glucose level, were always normal. The turning point came in February 2020 when Milena fell sick with a severe viral infection (probably Covid 19, but there were no tests for Covid at that time in Poland). The infection included pneumonia and a very high fever which lasted for about 6 days. She would take antibiotics and after few days everything seemed to get back to normal, but our little princess was weaker and weaker, she did not want to eat or drink much so we took her to the hospital and the blood tests just shocked the doctors! Her CK was at the level of 160,000 and she had very high levels of transaminases as well. After two days in the hospital she fell asleep and woke up only after 4 days in Intensive Care where she spent 7 days altogether. It was her first metabolic crisis. She was lying down in bed not moving a single finger during the first days after she woke up, but during the following weeks she regained all her abilities and skills that she had before the crisis. Thank God, even though she had heart surgery (or maybe thanks to it?), she had no cardiac complications during or after the crisis. She fought a harsh battle and she won it. Our doctors started to look for the reason for the crisis and one of the doctors told us about TANGO2. After about a year we got an official diagnosis. It was May 2021. Our geneticist told us that Milena is the only one in Poland who has been diagnosed with TANGO2 so far. We got some crucial pieces of information on what can cause her crises and how to react if one happens in the future, which is basically eliminating proteins from her diet and giving 10% glucose (about 2 liters per 24 hours). Despite all the information we had about TANGO2, we could not save her from having the second crisis which came in November 2021, almost two years after the first one. However because we now knew how to react during the crisis, the second one was much lighter than the first one and Milena was doing pretty fine, leaving the hospital after about 3 weeks. In February we decided that Milena should have a PEG tube because after few years of a constant struggle to make her eat and drink more, we now know that she was not sufficiently meeting her needs. Through the PEG, she will mostly get hydration and nutrition because she is not able to eat and drink much -- especially during the episodes of weakness. We would like to start giving Milena a mito-coctail which we hope will help her to stay in a good condition and keep her smile on her beautiful face forever! We are more than thankful for the TANGO2 Foundation for your research and huge support of our unique children and their families!