We are from Georgia, a small country in the Caucasus. Our first daughter Natali was born in August 2013. Even though my husband and I were very young and inexperienced parents, we were able to notice that something wasn’t right with Natali.
We took Natali to be examined by the doctors but they assured us that she was behaving like a normal baby. However, after two months they changed their minds.
Natali couldn't move by herself, she was unable to feed properly and she started having seizures. The doctors prescribed Sodium Valproate but this didn’t help at all. Natali has to take the Sodium Valproate formulated as a syrup by mouth. Getting her to drink the syrup was a horrible process as it was too sweet and sticky and she was having terrible difficulty swallowing it. I asked the doctors for a different solution in administering this medication, but they didn’t offer anything else.
At the same time, some genetic tests were done to ascertain whether there is any genetic condition which could explain her symptoms, but nothing of significance was detected. Natali was very small and failed to thrive. At the age of 6 month she picked up an unknown virus infection and developed a fever. We were admitted to hospital and for the first three days Natali was stable but then her condition suddenly worsened and she passed away.
Following Natali’s passing, the doctors explained to us that she was very weak and had problems with her lungs. It turned out that her lungs were damaged as a result of aspirating the Sodium Valproate syrup in to her lungs. This was not surprising considering how much she struggled to drink the syrup.
We were so sad and upset to have lost our daughter, but we did everything we could in our country to find the reason for her underlying condition. The only answer our geneticist had to offer was that I was too stressed during my pregnancy as a result of losing my father during the 8th month. Of course this answer would later turn out to be completely incorrect.
After losing Natali, we didn’t immediately plan to have another child but a few years later our daughter Eli was born in July 2016. As I was very fearful of complications during the birth, I elected to have a caesarean section. Unfortunately Eli’s problems were apparent on the very first day. Eli was not able to breathe properly and doctors decided to immediately admit her to the children’s hospital and I was not able to see Eli until 5 days later.
Despite these early warning signs, the doctors assured us that she was fine and we were sent home 10 days later. However, it was once again clear to me that she was not doing well. Eli was not able to breastfeed properly and whatever she managed to swallow was all vomited back up. I decided on my own accord to give her a special formula to counter her reflux. She finally managed to keep her feed down but after another month passed she started having seizures.
Eli was put through two rounds of examinations but once again nothing was found. The doctors tried to assure us that Eli was fine and I was just being paranoid. We ended up changing doctors many times and tried everything we could to convince them that something was wrong, but we got nowhere. When Eli was 4 months old she had a massive seizure and ended up in hospital. It was the most terrible and terrifying day of our lives. The doctor told us that Eli may not live longer than 7 months and that she clearly had a very complex disease.
We were searching everywhere for answers but the mystery surrounding Eli’s condition persisted and we were desperately trying to find an effective treatment. We even tried some massage therapy, but unfortunately it increased Eli’s seizure activity. Eli was taking 5 different anticonvulsants but she still had an average of 20 seizures a day. In an effort to get Eli to gain weight and grow I was changing her food every month. I tried giving her everything I could, including blended fruit, vegetables, meat and fish. But unfortunately she couldn’t swallow properly and she was not gaining any weight. Eli was started on a very strong anticonvulsant which managed to reduce her seizures, but it had a terrible developmental impact on her. At the age of 4-5 months she could move, smile, play with her hands and legs and could still manage to swallow some food. However, after starting this strong medication she stopped doing all of this. Our doctor suggested that this medication was the only option we had.
Eventually we were so desperate to help our daughter that we made the big decision to move to another country where she could receive better care.
We decided to move to France and have been living here since December 2017. Eli was 1 year and 4 months old when we arrived. I can honestly say that we are so lucky to be here. Eli was immediately admitted to the Robert-Debre Hospital where new investigations and diagnostic tests were started to try and find out what is going on with her. The first thing the doctors did was discontinue the inappropriate strong anticonvulsant.
The doctors also explained to us that Eli was not allowed to consume anything by mouth anymore as it was very dangerous for her. We were very shocked to hear this as nobody ever gave us this advice before. Eli had a nasogastric feeding tube inserted and while she didn’t like it, it ensured that she received adequate nutrition and started gaining weight. A while later she had a gastrostomy which has helped her so much to gain more weight and stabilise.
The doctors also examined Eli’s vision but unfortunately it was found that she can’t see and is blind as her optic nerve is damaged. There is nothing that can be done about this today but we hope and pray that there may be solution one day. Eli also has serious problems with her back and feet. She has a significant curvature of the spine and a deformed ankle. Although she has some special equipment and braces for these conditions, they are not helping much. An operation is considered too dangerous at the moment.
I want to wish everyone happy life and stay strong
The results of Eli’s first genetic test came back in May of 2019 and we finally had a diagnosis. She is suffering from WOREE syndrome as a result of a mutation of the WWOX gene.
In December 2019 Eli started having some problems with her lungs and developed bronchitis. Eli coughs a lot as a result of too much mucus. Since then we changed anticonvulsants 3 times and finally achieved some stability with the right combination. Eli now only has 2-3 seizures a day which only lasts approximately 10 seconds each.
From January 2020, Eli was admitted to a special school with a very good program which Eli really liked. Unfortunately due to the Covid pandemic she has not been able to attend for a while, but we hope we will continue it from September 2020 if all goes well.