I started to write this post during the last few hours of 2018 but was only able to finish it today. A lot has happened since then more challenges that I could have imagined. But I am thankful for the year 2018. There were moments where we felt lost and powerless, but there were also moments of perfect happiness.
2018 began with an early morning visit to the ED at LCCH. Diyanna had been sick with a constant cough for a few weeks. The doctors checked her chest and gave an all clear but as always prescribed antibiotics, to make sure that she would not get a bacterial infection. But after a week we were back, the intensity of her cough was the same. The follow up appointment with her Gen Pead in mid-January brought us a diagnosis of infection due to aspiration of meals. This was at odds with my observations of Diyanna.
So Diyanna did her first swallow study and passed with flying colours proving that she was not aspirating on her meals. Through this study we also got confirmation that Diyanna has reflux which in turn causes her to cough continuously. During our next appointment with Diyanna’s Neurologist we were made aware that continuous reflux can cause post nasal drip. This was one of the light bulb moments for us. We now knew why Diyanna woke up choking every night followed by a massive seizure where she would turn blue. I felt let down by Diyanna’s Gen Pead, as I felt that she was not taking my observations and understanding of Diyanna into account. So, with the help of our GP and on recommendations from the Neurologist we were able to get a new Gen Pead on to Diyanna’s team of doctors.
January also brought us the long-awaited call from Professor Ingrid Scheffer with news that they had potentially found the gene mutation for Diyanna’s diagnosis. She also asked us to hold off expanding our family till they know more and can determine if Dinesh and I are carriers of the mutation.
February passed by with us struggling to get on top of Diyanna’s reflux, post nasal drip and early morning seizures. Nothing we did was making a difference. In desperation, we started omeprazole. Although it helped control her reflux it caused Diyanna to be sevearly constipated.
March we had a private paediatric appointment with a doctor I hoped would take Diyanna on. Thankfully he did. Professor Scheffer saw her as part of the research study. Diyanna’s seizures however, had started to become more frequent. At the end of March we went in for a 24 hour VEEG study to try and capture her seizures and as always Diyanna decided to behave and we were not able to capture some of the new seizures she was having. Her Neurologist then increased her dosage of Lamictal and Keppra.
Her seizure activity continued to be high during April and in mid May Diyanna caught a form of Conjunctivitis. By this time I had also noticed that her reflux always started during lunch. So a a decision was made to change it to see if that would help. We started giving her Sago with milk and honey. After two weeks her reflux cough as well as her seizures were less. By the end of May her reflux cough was gone. Clearly there was something in her lunch that was not quite right for her tummy. So we began a food trial process that has not stopped.
At the start of June we introduced her to sweet potato as it is supposed to be good for people with reflux. After two weeks her reflux cough did not return. This made her be happy and bright for her Birthday. She was at her best. The plan was to introduce rice or lentils or chicken at the end of June. But we were in the middle of a bad flu season and sadly we couldn’t stop Diyanna from getting the flu.
The end of June and the month of July brought us with back to back pneumonia attacks. Keeping her oxygen levels above 92% was a struggle. So she was put on a high flow machine with oxygen to help with her recovery. To be on the safe side, courses of antibiotics were also started. Gradually she recovered from the pneumonia and came home. Diyanna was also put under the radar of the respiratory team which gave us an appointment for early September.
August passed by with Diyanna just recovering from pneumonia. By mid August she was strong enough for us to start her food trial. We introduced rice back in to her lunch. Within 3 days her reflux cough was back. We stopped the rice but it took her two weeks to recover.
She was still recovering when we went to see the respiratory team at the Children’s Hospital. They were not happy that Diyanna still had a cough and that she had a strider. I explained that the cough was due to a food trial we were doing and that she had always had a strider which goes away if you position her correctly. My explanation however fell on deaf ears. Diyanna was given antibiotics for 6 weeks. This was the biggest mistake I had made for her. The complications and the domino effects that came from these 6 weeks are still going on today.
Within a week after we started Diyanna on the antibiotics things started unravelling. She was constipated. Her bowel movements became irregular. Her reflux cough was back and her seizures increased. When the 6 weeks were finished it was mid October and the delicate balance which we had achieved in May was gone. We were back to square one. The disappointment and frustration was overwhelming and my anger at not being listened to was immense.
On October 15th we got a call from Professor Scheffer saying that they finally know what happened to Diyanna. Being able to have a name CACNA1e may not be much. It doesn’t change her current situation but it gave us something to work with and to look for.
Early November we had our review in which ended up with the doctor acknowledging that what I had said at the very 1st appointment was right and that the antibiotics didn’t help her at all. But as doctors they needed to do the 6 weeks trial to make sure that it was Diyanna’s base line.
The remainder of the year left us struggling to get back to where we were. By mid December Diyanna was starting to improve; her seizures and cough was less. We also got news that Diyanna’s mutation was most likely De Novo and that there is only a 5%-7% chance of it happening in the future. Christmas was spent surrounded by family.
On the 31st we prayed that the New Year will bring more positive outcomes for us as a family. But how wrong we were, 2019 so far has been the hardest year not just for Diyanna but for us as a whole family.