Journey to our Diagnosis

Journey to our Diagnosis

Feb 2011
We are truly blessed, sildenafil our beautiful baby boy Shiv is born…“look at him, he’s perfect”

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Jul 2011
Shiv hit all the development Milestones by 6 months and was sitting up without support…our boy is doing great”

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Nov 2011
Shiv started crawling at 10 months, this was late and whilst we raised concerns reassurance was given that all children develop differently and he was just a late developer…“ every child is different, he’ll soon be crawling around”

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Jul 2012
Shiv started walking at 16 months, again late, whilst concerns were raised, reassured nothing to worry about, just a late developer and to be concerned if not walking by 18 monthswell he started to crawl late, so of course he’s going to walk late”

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Jun 2013
At the age of 2, we had concerns about Shiv’s health, thinking it was a possible food allergy we went to see a paediatrician who recommended us to a consultant at Great Ormond Street. Although all appeared to be normal on the outside, blood tests revealed that all was not fine on the inside. Numerous tests and scans did not reveal any conclusive results, but certain conditions were ruled out. At this point in time we had not even heard of muscular dystrophy….“ okay at least they have ruled out cancer, but what can it be?”

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Jan 2014
While investigations continued, Shiv’s nursery highlighted that he was not moving like his peers in dance class and we had also started to notice that he was having difficulty climbing stairs, jumping and running. Shiv was referred to have a hip x-ray; relieved that all was fine we put it down to he’s just a late developer and will soon catch up and be grooving like his friends”

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Feb 2014
A week after Shiv’s third birthday and after 8 months of agonising tests and trips back and forth from hospital, Shiv was referred to the Metabolic Team at Great Ormond Street where more blood tests were done. The results of these tests would change our lives forever. The evening of the appointment, we received a call to tell us that results from the blood tests showed that Shiv’s CK levels were extremely high and that a second test was required to confirm the result from our local hospital. At that point we did not know what this meant but knew it was serious as we received a call at 8pm. We went straight to the internet to research what this meant, with his symptoms and high CK the only condition we were led to was “Duchenne Muscular Dystrophy, a fatal condition with limited life expectancy, with no current treatment or cure”. A further blood test confirmed Shiv’s high CK levels and we were called in for a blood test with the neuromuscular team. We were told to expect the worst as all signs and symptoms were leading the experts to believe he had a severe form of muscular dystrophy; however, we would have to wait for what seemed like the longest 4-6 weeks of our lives before we had the results. In disbelief we again trawled the internet for endless hours and again were led only to one diagnosis. “ what has just happened here?, how could this be?, surely this can’t be true, they have got this wrong …we have to be positive, let’s wait for conclusive results”

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8 Apr 2014
The 8th of April 2014 is the day that will haunt us for the rest of our lives. We left Shiv with his grandparents. As we made our way to Great Ormond Street Hospital to collect his results we were full of mixed emotions of hope and fear, wanting to see our consultant as soon as possible in order to end this nightmare and hear that the results were negative, yet not wanting to go as, deep down, we were grappling with the realisation that Shiv could have “Duchenne”. The consultant began with “This will be a very difficult conversation….”, no more needed to be said, we sat numb, our hearts broken and our world turned upsidedown, we could see it in black and white, Shiv has Duchenne Muscular Dystrophy and we knew there was no treatment or cure “ why Shiv?, why him?”

 

Coming to terms with Shiv’s condition has been and continues to be extremely difficult for us, involving endless sleepless nights, crying ourselves to sleep, hours just holding Shiv in our arms, hugging him and wishing that we could take it away, feelings of anger and frustration while sitting with him while he sleeps …. “why is there no treatment, medicine has come on in leaps and bounds, yet there is no cure for Duchene…”

We have hope… We need hope… we will fight… we need to fight… we need YOU to help us… to Smile with Shiv

Today…

Shiv is not aware of his condition at the moment so we don’t talk to him about it. If you see Shiv please bear in mind that he is not aware of his condition, we kindly ask you not to discuss the condition in front of him, to talk to him about it or to highlight any muscle weakness. We plan to tell him when we feel it is right for him and thank you for respecting our decision.

Although not aware, he is now starting to ask why he can’t run as fast as his friends and why he can’t peddle his bike like his friends; we tell him it’s because his muscles are a little weak, we tell him that it is okay for his muscles to be this way and there is nothing wrong with that, we also tell him that if anyone asks why he can’t do something to say ‘it is because my muscles are not as strong’. We also stress to him that he should only do what he can and that it is ok for him to take a break if his legs hurt or if he gets tired, we also tell him that mummy and daddy are working very hard to help his muscles.