The road to diagnosis…

I think all in all, we’ve been banging the diagnosis drum now for about 7 years. Even as a toddler, T was unsteady and clumsy. Not unusual for a toddler I guess, but when he woke up one morning at about 18 months old and couldn’t place any weight on his legs, we knew something wasn’t right. T was taken into hospital.

So this leads us onto…

Diagnosis 1: The Irritable Hip.

What exactly is an irritable hip I hear you ask? Does Eyal from Love Island really annoy it? Does the thought of ‘open mouthed chewing’ send it into a frenzy? I wasn’t aware that joints had the ability to feel irritated to be honest. But irritated it was.


T was x-rayed and his legs contorted into a number of positions to draw this conclusion. The doctors couldn’t explain it, nor offer anything to help. Apparently it was just ‘one of those things’. The fact that T was skipping round the ward like a spring lamb within 20 mins of actually getting to hospital probably didn’t help them to fully understand our concern. So we went home. We went home feeling like we had wasted everyones time.

T is our only child. As he got older, his unsteadiness didn’t phase us too much and we had nothing to compare it to. We had been back to the doctors again when he was about 3 to be told he was ‘just an unsteady toddler’. It was just T. Some kids are more clumsy than others. He was bright as a button and flying through his KS1 work at a rate of knots. He loved nursery and then later, he loved school and he had friends in abundance. When we took him out with other children, it was clear he couldn’t keep up in the park or on the football field, but he was having fun and was happy; so we were happy. We just figured that he might be a scientist rather than in the Olympics.

As T progressed through the Reception year at his school (which is AWESOME btw) we received a call from his teacher voicing concerns about his fine motor skills. He was struggling to pick up small objects, such as beads, and the sprinkles for the cupcakes they had been baking. She suggested going back to the GP again. So back we went. We again mentioned the unsteadiness and the issues brought up by his teacher. He didn’t seem overly concerned.

Diagnosis 2: Hypochondriac Parents

By this point though, we were concerned. T had started to have small involuntary movements and often complained of pain in his legs.

The GP (reluctantly) referred us to a paediatrician.

Diagnosis 3: Dyspraxia

The Paediatrician we saw was a very lovely man. Again, he did not seem unduly concerned about T and his symptoms. After a 5 minute check over he promptly diagnosed him with Dyspraxia and Tics. Now I am no medical expert. At all. However, I do work in education and deal with students with a variety of additional needs on a daily basis. We had also already researched Dyspraxia, and although T’s symptoms fit some of the criteria (ride a bike? Not a hope, bless him) there was much which did not. I voiced this to the Paediatrician… who did not look impressed. Which I get. A self taught ‘Google Dr’ questioning you when you have studied medicine for nearly a decade is gonna get your back up.

He informed me that he could investigate further, should I wish, but this would involve an MRI and T being placed under General Anaesthetic and “Would I really want to put him through that?”

Well no. Of course I wouldn’t want to put him through that. And so we left. With leaflets and the promise of an occupational therapy referral.

School were every bit as confused as we were with the diagnosis. As was his Occupational Therapist. So much so that she wrote to the Paediatrician (and anyone else who would listen to be honest) to say that she thought he was wrong. And they needed to do something. Fast.

By this point, we were months and months down the line and T had deteriorated further. His walking was even more unsteady, his OT had sorted an enlarged keyboard for school as writing was becoming difficult and we wrapped him in cotton wool wherever we went. What happened next? We went back to the bottom of the referral pile. Months passed again and finally we went back to the Paediatric Neurologist and refused to leave until they had taken us seriously (I’m not gonna lie, he got full North Eastern fury from me before T and J came in).

Finally we were listened to.

Diagnosis 4: Friedreichs Ataxia

After many MANY (horrible) tests, T finally received his diagnosis. Its not the diagnosis we wanted, but at least now we can start moving forward.

Moral to this story: Trust your instincts. And your OT. OT’s know their shit.

5 thoughts on “The road to diagnosis…

  1. Beautifully written ❤
    Perseverance is definitely the key and (as if you would) don’t let anyone get in your way as parenting is difficult enough without additional complications to deal with.
    Well done all 3 of you and T is a credit to you both x


  2. T is so lucky to have a determined Mum like you! I’m so pleased you have eventually received the care that T needs and you have a wonderful OT to help… she clearly did know her shit.
    I would love to follow your blog so I can support your beautiful family along the way!


  3. Truly Amazing read Lucy – lost for words to be honest, just know there is as much love help and support for you all what ever you need and whenever you need it.


  4. Reading your blog, has bought back so much to me. Your thoughts, the doctors responses sound exactly what me and my son have gone through with his FA
    I felt every emotion you have written about. Writing a blog is a good way to express your feelings and let others know exactly what us Mums/dads/families all have to go through.
    I would love to follow this, I may even start my own blog 😊


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