Words cannot describe how sad and helpless we now feel when we recently heard how severe Emma’s condition is.
Emma was born seemingly a perfect healthy and beautiful little girl. She charmed everyone and instantly won ours hearts, the pure love and joy we felt is unspeakable. There was only one little problem – one of her blood values refused to go down to a normal value. The doctors took it very serious and refused to let it pass and started to investigate it. However, they couldn’t find anything wrong with her besides her raised lactate value. A few days later the doctors wanted to speak with us and released the bomb – she is probably suffering from a mitochondrial disease. They broke it gently to us and it was a lot to take in. Luckily, we didn’t fully grasp the severity of her condition and of course there was the chance that the doctors was wrong…
The week before Christmas we went to Gothenburg for diagnosis (only the University hospitals in Gothenburg and Stockholm can do the final diagnosis of this rare disease in Sweden). After meeting with the lead doctor and scientist we got a little clearer picture of Emma’s and our situation. There was now little to no hope of her not suffering from this disease but we could hope she suffered from a mild variant of it. No matter the severity of her disease we could expect a shorten lifespan and serious impact on one or several important organs. However, it was a good sign that she did not show any more symptoms besides her raised lactate value. It’s very complicated and time consuming to do the final analysis so we couldn’t expect an answer for at least six to eight weeks. We came back to Malmö and after just a few days at the hospital we came home for Christmas!
Finally we could enjoy being parents to our lovely daughter and despite the lack of sleep and some frustrating throw-up incidents we all had a wonderful time. It all changed when we came back from a great New Year’s dinner with friends and she suffered her first seizure. It was off to the emergency department in the middle of the night. There it was quickly discovered that Emma suffered from epilepsy and it took several hours before they got her seizure under control. It was very difficult to see our daughter heavily affected by the strong medicine. We now came closer to accept her mitochondrial disease as epilepsy is a common and serious symptom of this disease. We stayed at the hospital in Malmö for about a week until we could come home again.
Once again we enjoyed being “normal” parents but with some new chores like give Emma her medicines and watch out for signs of seizures. We had a great time with family and friends over until Fredde had to go back to work. Going back to work was actually very difficult, especially to explain about Emma’s condition several times a day. A few days later Emma had new seizures at home and we had to go to the emergency department once again. Even though we knew that epilepsy originating from a mitochondrial disease is hard to treat, it was disheartened to already go to the hospital for a new treatment.
After a day in Malmö we came to the children’s hospital in Lund for a thorough investigation of her epilepsy. The shakings with her hands hadn’t completely disappeared and now also sometimes appeared in her legs and head. Emma had new EEG:s with strange results. The shakings weren’t registered on the EEG but sometimes it showed epileptic activity in her brain but this didn’t show on her body. After the introduction of a new medicine and some adjustment in her previous medication she more or less stopped with her shakings.
Emma had a new MR that came back with a despairing result – she is suffering from damaged white brain matter that will only get worse over time. This new diagnose placed her mitochondrial disease as one of the worst with drastic shortened lifespan, maybe 5-10 years with developmental disorder and dementia. We have no words to describe our despair and sadness…
As if all of this was not enough the final blow came less than a week ago when the doctors discovered a very serious heart condition. The blood vessels in Emma’s lungs are cramping which creates a very high blood pressure in her right heart chamber. Her heart is already seriously affected and it’s not possible to surgically correct. She can only get medicine to ease the problem and in the end it will take her from us… We don’t know how long our little borrowed angel has left but it’s numbered in months, maybe a year and a half.
It is time to acknowledge our amazing Swedish and Dutch families, friends and the hospital staff. From day one we have had wonderful support and we have never felt alone. It would not have been possible to go through any of this without your support! Thank you so very, very much! We love you all!