Having a family member with a disability can bring about a unique set of challenges and rewards. It requires navigating a world that may not always be inclusive or accommodating. Luis has changed our everyday life in a way we couldn't imagine, and we are still learning new things along the way.
Our Start
It was 2018 that we had an unforgettable experience. Luis was about 7 months old and we just returned home from a long journey and were exhausted. I remember putting Luis on his play mat and turning around for a few secs, by the time I turned back I couldn't believe what I was seeing. I looked down and Luis was not moving he looked so still and my initial reactions was to check his breathing and to see if his tongue was blocking his throat. I shouted out to my wife and she was also in shock but called the ambulance immediately. They asked what I could see and to be honest I remember saying "it looks like he is dying". Fortunately it was not the case but it was a feeling that left a pain in our stomachs we could never forget! The ambulance collected my wife and Luis and took them to the hospital for additional checks. There he had an MR scan and an EEG, and they were discharged as at the time they suggested he had a febrile seizure from a high temperature due to bronchitis.
Next
Luis had another seizure 1 month after and was admitted at the hospital where he had an MR and EEG. My wife stayed with Luis the best part of 2 weeks where they constantly monitored Luis. We were told it seems as though it was an epileptic seizure and he may have Epilepsy, so he was prescribed Convulex to reduce the seizures, which he needed to take 3 times a day. This was new to us and we made sure between ourselves we didn't miss a dose, carried it everywhere and it became ritual to check with each other if it was done correctly. However shortly after Luis started waking up in the middle of the night screaming and we could not find a way to easily comfort him.
Luis also continued to have more seizures and more hospital visits in the following months. To be honest it got to a point where we wondered if he actually needed it, so we called the neurologists and told them we decided we want to take him off the medicine. They said two things, firstly it would have to be staged he could not just stop taking it and second they advised against it. They were worried that it would affect him and he his seizures would only increase. I remember at our appointment sitting there with my wife thinking, I am not sure if this medicine is not affecting his body and brain, quite possibly he does not need it. They recommended we have a DNA test done it was the only way to get some direction on the next steps and eliminate any doubts.
Additional Medicine
Whilst we waited on a date for the DNA consultation we were offered the option have an additional medicine that may be better suited to helping with the seizures. Although we disagreed, we thought about Luis and if it could help him we should at least try. They then prescribed Keppra.
This unfortunately did not work as he still continued to have seizures but also we noticed something different about Luis. It seemed to have an adverse effect on him. Luis was a almost as my wife describes it like a dolly, very unresponsive, almost floppy or lethargic. We quickly ended the use of it and he returned to his former self, although requiring additional attention had more energy that during the time he used the additional medicine.
Milestones not being hit
During the time that past whilst we waited for our appointment for the DNA test we noticed that Luis did not reach some of his milestones on time and most were quite delayed. This was from sitting up, to standing up, and even trying to verbally communicate or point at things. He seemed to be delayed at everything he should at least be trying to do from his earlier months into becoming a toddler.
The Initial DNA consultation
We had an initial consultation with one of the genetic doctors, who took us through the questions related to family history. I remember we were trying to find out all the information about our family past to see what we could uncover to help us get some answers about what could have caused this. Our consultant was building a family tree, especially as our background is very mixed. Kristina my wife is Slovak with Jewish heritage and I am from Trinidad but with Spanish, Indian, Black and some Chinese. This made us think if this was a contributing factor! I called my family to get some information on our father and relatives. Apparently my brother and I took a bit longer than usual to talk, and on my uncles side of the family there is some autism. We were trying to link some dots, more than anything, I think we wanted comfort that this was nothing to be worried about and that it would go away by itself in time. The consultant initially thought Luis had Dravet syndrome but this was yet to be clarified. It was then a waiting game to find out what Luis' diagnosis would be.
The DNA Result
Waiting for an answer is a terrible thing. I remember we were so anxious and couldn't get the subject off our lips, and with the passing months Luis continued to have seizures and not make his milestones. We had family and friends in our ears saying it will pass, it is nothing, but at the same time comparing Luis to other children of the same age. We knew it was happening and although it upset us we continued to have hope but nervously awaited the result.
When the the day arrived and we had the answer there were so many emotions at the time I do not know if they will ever go away. Learning that Luis has a rare illness called Nascimento X linked intellectual disability with limited research and cases was not an easy thing to comprehend. I remember we had a consultation with a neurologist in Scotland who said in all her time in the profession she has only ever come across one other child who was similar to Luis.
And Now
There are so many thing not covered above, and we can get to them within other posts. As a family we have been able to overcome many challenges but there are still so many ahead.
With two other children, finding the right balance has not been easy, as Luis needs so much attention. Whilst writing this Luis is 6years and 8 months old however behaves like he is somewhere closer to 1.5 - 2 years old. We must pay attention to everything he is doing, as he has a serious lack of awareness. Initially after his first seizures and finding out about his medical condition I was very guilty of spending the lion share of my time with him and every single thing he did. I needed to take a step back as I had an amazing relationship my daughter Eva and wife Kristina that was in danger of going down a road I would regret. I am lucky that they are both so supportive and understanding, that has helped manage the situation tremendously. We all love Luis but he can also send us a bit crazy at times as he is very demanding, which due to his condition is understandable but it can be overwhelming. A simple thing like changing the tv channel or the video on the tablet he needs help as he does not understand how to use them. He has his favourite kids videos called duck tv, however he has seen them all but that is mainly what he wants to watch. Having seen them all he is constantly changing them or as you may have worked out now he needs us to change them every minute. He can vocalise this by using saying " Da da da"..... but he will continue this until you do it, whether that be in 10 secs or 5 minutes.
It is challenging, tiring, rewarding and lifelong all rolled into one. Within all this we believe Luis is where he belongs and will be looked after the best he could ever imagine. Of course this is only six years in and we will continue to keep you posted on his development and ours as a family.
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