Finally, We Have An Official Diagnosis For Our Son
I want to write this post partly as a way of getting my head around the fact that we have finally got the official diagnosis we have wanted for so long, and partly to let other parents know that they are not alone in getting a late diagnosis for their child. Whatever their condition maybe.
I don’t want to drone on, but you can’t condense seventeen years into a thousand words, so be warned!
Our son has always been ‘different’ from other children his age and I know there is nothing wrong with being ‘different’, but sometimes the difference is more than just personality. Sometimes it is something so much more, as we found out.
We can trace the ‘differences’ back to when I was carrying him
He was my first baby, so I really didn’t know what to fully expect during pregnancy, but at my check ups I did tell the Doctor that I very rarely felt the baby move. And after a scan to check that all was well the Doctor informed me that all pregnancies/babies are different and that my baby was just ‘lazy’.
Lazy was a term we got used to hearing as Greg’s grew up. Lazy and immature – of which we now know he is neither.
Even with Greg’s low birth weight, his battle to feed, his failure to thrive and his late development, he was consistently referred to as ‘lazy’ – by more than one medical ‘professional’!
When he was old enough for finger foods, he would often choke and we were told that he was too ‘lazy’ to chew. He still chokes on his food sometimes even now he is seventeen. We have recently had a couple of choking scares, where I have been ready to preform the Heimlich manoeuvre, which I have never had to do for real yet and the thought of having to scares the life me, but if it will save his life I will step up and do my best….Because that’s what Mums do.
At nursery his teachers called him ‘shy’ as he never mixed with the other children and he was painfully slow at everything he did…..And he still is.
He rarely talked and when he did it was difficult to know what he said, which hasn’t changed.
At infant school, he didn’t make friends. In fact the only children he would sort of play with was the children that I arranged play dates with and then he never really played. He just watched and observed, although he always looked like he wanted to play.
Again the teachers put it down to him being shy and that he lacked confidence in speaking Greek as he came from an English speaking family. Which was rubbish as he could speak Greek as well as he could English and he rarely talked at home either.
High school was the same and he was getting marked down for not participating in class, which is so wrong as not every one is a born extrovert, but it’s the culture we live in..
We have met with all of his teachers over the years to hear the same thing time and time again, that he was ‘quiet’, ‘shy’ and ‘lazy’. Even when we mentioned our own concerns, we were told not to worry and that he would be ‘fine’ and that he would grow out of it.
After School Activities…
Greg’s loves sport and was obsessed with balls when he was younger. So we took him to play football at a club. All was fine until he had to play a game, when he would run away from the ball or freeze like a rabbit caught in a cars headlights. Which was no good and he ended up stopping after a year.
He also went to athletics, where the teacher was great and only ever had patience and encouragement for Greg’s, but he lost interest when he was left behind as the other children got bigger, stronger and faster and he remained awkward and clumsy. The sound of the starting gun would quite often reduce him to tears too.
We have always encouraged Greg’s to join in with things
At Last The Pediatrician Took Me Seriously…
On yet another trip to the pediatrician, when Greg’s was about nine, I once again voiced my concern over his clumsiness, his inability to speak clearly, his lack of friends and my concerns over the fact he still walked on tiptoes, among other things. The tiptoes thing was dismissed in the past as the pediatrician had in fact been a toe walker all his life and he was fine!
Another thing we had noticed with Greg’s at that point was his astounding memory for sporting facts. He could and still can recall team player changes in a football match that may have happened years ago. He could recall things like the name of the player, the time of the substitution and the reason why he was substituted. His favourite reading material is sporting statistics.
We always say that if you need something recalling ask Greg’s. If it is something that interests him he is rarely wrong. He even remembers high scores on the game Yahtzee from games that were played in another lifetime.
This time the Doctor took time to test Greg’s reactions and reflexes. He then said that he had the reflex and reaction time of a child half his age and that coupled with the fact that he walked very high on his toes – and probably to keep me happy as well – made him think that he should refer us to a clinic in Athens to have him checked out.
What Happened Next…
Was a blur….
A couple of weeks later we were sat in the Doctors surgery in the clinic in Athens, watching whilst the Doctor checked Greg’s over. He paid a lot of attention to his lack of coordination and clumsiness, his very slight build – he has always been noticeably underweight – the fact that he walked on his toes and the way his shoulder blades sat.
Then he referred us to the neurology department in the Agios Sophias children’s hospital in Athens, which is a very large children’s hospital and we had to go right away.
Luckily it wasn’t too far by taxi and we found the Doctor who we had been referred to – he was the head of neurology. He checked Greg’s over and said that he must be admitted at a later date for tests and a muscle biopsy, to see what was going on. At that time he didn’t tell us what he suspected, but a couple of weeks later, when Greg’s was admitted we were told that there were signs that Greg’s may have a type of muscular dystrophy.
Gregs was left with a ‘proper’ scar after a muscle biopsy
Ever had the wind knocked out of your sails? That was probably the first time I had actually felt physically winded by something someone had said.
After a week of blood tests, coordination tests, heart tests, ear tests, an MRI, a nasty test where they sent electric currents through his muscles – that was probably the hardest thing to witness, as Greg’s has always had a high pain threshold, but that really hurt him – and a muscle biopsy, muscular dystrophy was ruled out.
Greg’s was checked over by a genetic Doctor who did other genetic testing.
After a week we were sent home, but he had to be readmitted at a later date for more tests.
After all the test results came back, the Doctors were baffled and actually called him a medical mystery as the tests showed that Greg’s had a myopathy, but they could not pinpoint exactly what was going on. The upper part of his body is overly flexible, but his lower half is very stiff.
The Doctors couldn’t tell us any more than that, so we left the hospital with the diagnosis of an unknown myopathy and the horrible feeling of not knowing what the future held. They also said at the time that the myopathy would explain his quiet personality and his lack of enthusiasm at joining in with others. We were told that Gregs was probably aware that he was different than the other children and kept his distance from others because of it.
Greg’s took being in hospital in his stride
After His Diagnosis (At That Time)…
He was measured for night braces that he had to wear at night to help straighten the lower part of his legs. He also had to have three sessions of physiotherapy and three of speech therapy every week, luckily it was all funded for us, as we had an official diagnosis. He also needed occupational therapy, but unfortunately on Zakynthos, which is a Greek island, at that time there was none available.
The nearest occupational therapy was on the Greek mainland in Patra, which was over an hour by ferry and an hour and a half by car – each way – for a forty five minute session and whilst the therapy would have been paid for we could not afford the traveling costs. So with advice we did things at home with him to help his motor skills.
After a couple of years they started up a medical clinic on the island that provides support and therapies for children who need extra help. We managed to get Greg’s the occupational therapy he needed there.
Then Everything Went Tits Up…
He had probably been diagnosed for three years when they cut back on his therapies. Every year we had to go for an evaluation to get him written up again for his therapies, so that we could get the financial support that made them possible.
witches ladies that evaluated him cut back on his therapy sessions saying he was just immature – yes, this was with them knowing the diagnosis of an unknown myopathy. Basically we would have to pay for the extra therapies if we wanted him to have them and that wasn’t going to happen unless we won the lottery.
Looking back the country (Greece) was trying to save money as it was going bankrupt, so they were making cut backs, not only with us but with other children too. Not really the right place to implement cut backs, but what do I know?
We started to get frustrated. After three years Greg’s speech wasn’t any better and the physiotherapy he was getting, we could do ourselves at home, it was just stretching exercises to stretch out his legs and back.
We had also mentioned things that he did that didn’t seem right to a psychiatrist that evaluated him before he got the occupational therapy. Again we mentioned his lack of friends, his memory for certain things, the strange drawings that were just multicolored lines, the fact that he didn’t play like other children, lacked imagination, took things literally, had a really high pain threshold – I had actually shut his fingers in the car door and he didn’t make a squeak, it didn’t seem to hurt him, but just trapped him – his lack of interest in food and drink…The list goes on….
By that point someone had pointed out that maybe he was on the autistic spectrum and it was worth checking him for that. We also told the psychiatrist that, but she said no he was just immature for his age.
It was shortly after this that we stopped all therapies. We were seeing no changes in Greg’s, he was happy and managing at school, so we decided that maybe it was just his myopathy after all and everything else was normal for him.
We decided that focusing on school work was important and that we would help him come out of his shell all we could by helping him feel good about himself.
Fast Forward To A Few Months Ago…
Greg’s is now in his second to last year of schooling and a few months ago his teacher called us in for a meeting. Having spoken to many of his teachers over the years, we kind of knew what was coming….That Greg’s is a good lad, but he doesn’t mix, he doesn’t partake in class and that his speech is bad and his handwriting even worse….
But we were in for a pleasant surprise. His teacher actually seemed to care about him and wanted to help, she recommended that we approach an organization here that works with helping pupils get the help they need in school. We told her we had been there and done that and it had been a massive waste of time – too many children and not enough manpower or money.
We had been through a process of interviews and evaluations, with just Greg’s and with us as a family, and they said they would get him extra help in school, but it never happened and we weren’t going through it again. The school contacted them and still nothing happened….It was a bit like flogging a dead horse.
After an hour and a half meeting with his teacher, she contacted a children’s councilor and made an appointment for just me and my husband to meet with her, without Greg’s knowledge.
This lady was so helpful it was a relief. She actually went into the school ‘undercover’ and watched Greg’s in school without him knowing. She was solely there to assess Greg’s, but did it in a fashion that didn’t make him stand out, she spoke with other children as well as him.
She kept us updated on what she was doing and what she intended to do for him, she thought that speech therapy would help him to communicate better, and so put us back in touch with the medical center that he had been to a few years back and the same place that had also said that he was just immature.
I must admit we were reluctant to go back to the medical center, but we made contact with them and Greg’s had an appointment with the speech therapist there. The system has changed again, so he didn’t have to be evaluated by the three
witches ladies, it was down to the speech therapist to decide whether or not he needed speech therapy…And surprise!…He did….
What Happened Next…
We were told that they would write us up for speech therapy, but we would have to wait for the official paper to be stamped by half a dozen medical professionals before being able to start. After all we do live in Greece and they do like their official stamps!
We didn’t have to wait long though, a couple of weeks later we got a call saying the paper was ready and that we could pick it up at the main hospital. I picked it up and only really looked at it when I got home. I was actually shocked at what it read, it read that Greg’s had been diagnosed with Di-George syndrome and he had been written up for umpteen different therapies!
Now what shocked me was that he had been tested for Di-George syndrome by the genetic Doctor in the hospital when he was diagnosed with a myopathy and the test had come back that he did have a chromosome abnormality, but that he did not have Di George syndrome. I just got that sinking feeling again, I felt like we were swimming against the tide and banging our heads against a brick wall.
Needless to say we got in touch with the medical center, wanting to know where they had got this diagnosis from as he had only had a half hour evaluation with the speech therapist!
The Day Things Started To Change…
We had to go to the medical center the next day to meet with the psychiatrist – who is boss up there – and with another lady. I went in there and told them exactly what I thought; that we have been messed around for years by people who just don’t listen and we were getting a little fed up.
I wasn’t rude, I don’t believe anything is ever achieved by being rude or angry, but I did say exactly what I thought for once. I had warned my husband, but I think that he was even impressed and surprised. I looked them in the eye and I told them that it would actually be a relief if Greg’s had been diagnosed with Di-George syndrome, as he has all the physical traits of the syndrome and children with the syndrome are quite often on the autistic spectrum too. At least then we would know that we weren’t imagining that he is different.
I had made a long list of things that have happened over the years, the things that Greg’s cannot do and all the difficulties he has…..And they actually listened…..Why did you not tell us this before?…They asked…..Because you didn’t listen!!…We were here, but you didn’t see what was in front of you….You dismissed us along with the many medical professionals before you!
Now they are listening and bending backwards to help us. Better late than never I suppose.
We have had numerous meetings up at the center and Greg’s has once again been subjected to evaluations and we have had to get a second opinion from a neurologist for Greg’s myopathy – that still stands. But not only that, he has also been diagnosed as being on the autistic spectrum – probably Aspergers, but maybe high functioning autism – they are taking their time on that one. He also has a sensory disorder and dyspraxia. All which were overlooked because his symptoms were put down to his myopathy,immaturity and laziness.
He is now getting cognitive therapy, behavioral therapy and speech therapy. Me and my husband also get counseling and guidance from the psychiatrist, which we so need. We have battled for so long to help Greg’s as best as we can, always being told he was fine, but deep down knowing that he wasn’t – not really.
What The Future Holds For Greg’s….
We are not sure, but then again do we ever know what the future holds for sure?..Not really.
We have been told that he may never be able to live a fully independent life as there are so many things that he finds difficult. Just simple everyday things that we don’t think twice about doing, he finds difficult.
He is also at the age where people ask what his plans for the future are and what are his plans after finishing school. Which college/university does he want to go to?..Both are question that can usually be easily answered, but that is not the case here.
To people who don’t know him he comes across as slow and unintelligent, but he isn’t.
Things are made harder by the fact that he is now 17, maybe if he had gotten the help he needed ten/fifteen years ago then things may have been different, but we cannot think like that.
We have to deal with the here and now, taking one day at a time.
Things That I Am Thankful For…
I am thankful that Greg’s at last has a diagnosis that makes sense and that we know what we are dealing
I am so happy that he has one friend who does come and spend time with him when he can. The two will probably spend hours playing the board game monopoly during the summer holidays. Although I do wish that Greg’s would get out more.
I am so relieved that he will be exempt from military service for sure. That was a big worry, when he can’t even tie his shoe laces properly.
I am also grateful for the fact that things are not worse than they are. I am aware that there are a lot of people in the world who are in a much worse off position than Greg’s. We have family friends with children with much worse physical disabilities than I hope Greg’s will ever have and for that I will always be thankful. I do count our blessings.
I am also thankful to the teacher that took it upon herself, not only to call us in, but to step in and help us where others didn’t. We have been and thanked her properly, but she humbly said that she was just doing her job and looking out for a pupil. In my opinion any child that gets to have her as a teacher is lucky, as for us she has proved to be the one in a million teacher. She has also been contacted by the medical center and sent them an email telling them what she observed with Greg’s as his teacher and offering any help she can give.
Next week we have an appointment with a therapist that will hopefully be able to help Greg’s with his chewing and swallowing – I honestly didn’t know that such a therapist existed, but apparently they do. I hate having to keep reminding my 17 year old son to chew his food or not to put too big a piece food in his mouth. It will be one less thing to have to quietly worry about.
Greg’s pediatrician passed away from cancer before we got the full diagnosis. Which made me feel sad in more ways than one.
When All Is Said And Done…
Greg’s is generally a happy lad and always has been. He would give you his last cent without thinking about it.
He has never played games to win, he plays for the simple joy he gets from playing and can be heard laughing like a chip monk. even when he is losing – which we also know isn’t quite right as it can be a hysterical type of laugh. But I’d rather hear him laughing his socks off than crying his eyes out!
Writing this has been as difficult as I expected. I have a headache and stiff shoulders and neck.
I really didn’t want to write so much, but as I said at the start you can’t condense seventeen years into a thousand words – or rather I can’t! There is so much more I could write, but I think I’ll save it for another day.
I want to share the difficulties that Greg’s has and what he and we face everyday. I said to the psychiatrist the other day that I hate analyzing everything that Greg’s does as we have learned to except him how he is and it now feels wrong to be picking him apart, but deep down I know we have to, in order to help him.
I want other parents who maybe in a position similar to ours to know that disorders/syndromes/disabilities can and do get overlooked. Parents do get fobbed off. My advice for anyone in a similar position would be to hang in there and don’t give up, follow your instincts and be insistent. Maybe if we had been more insistent things would have been different now, but there is no changing the past, so I won’t dwell on it.
© 2014 – 2016, Debbie. All rights reserved.