Bastian takes his first steps

Bastian now aged 2 and half takes his first steps unaided on Halloween night in front of the whole family. Enticed by the sweeties available he does the one thing we feared he might never do -walk!

Paediatrician appointment

We're back at the paediatrician's today regarding delayed walking and abnormal brain MRI scan.

B is still not walking independently although recently he has started to take about 2 to 3 quick steps which are poorly co-ordinated. He is also delayed in other aspects of his development including his speech and language. He has made some progress in his play however it can be repetitive and he needs help to move on to a different activity. He has started using motoric type of communication such as using our hands to indicated what he wants. His eye contact is fair and he responds to his name but inconsistently.

Neurological examination is the same as before with asymmetrical brisk deep tendon reflexes and globally reduced muscle tone especially in his lower limbs. He is now beginning to stand, knee walking very well and when led by both hands he walks with a wide base gait and tends to drag his left leg.

B's MRI has shown some generalised non-specific abnormalities (gee that's helpful) with slight prominence of his ventricles and thin, featureless corpus callosum. There was also limited preriventricular signal change around the trigones of both lateral ventricles.

He has had some plasma amino acids and organic acids done. Initial blood tests showed a generalised raised amino acid pattern and therefore this was repeated. His repeats have shown slightly raised alanine and proline. She is unsure what the significance of this is.

In view of all of the above symptoms, and his abnormal investigations, b will be referred to the Neurologist for a second opinion to enable us to reach a more conclusive diagnosis.

Occupational therapy

B has his first occupational therapy appointment at home. Again she is a lovely lady. I feel so spoiled that B has so many fantastic professionals looking after home.

MRI Scan

Today is B's MRI scan. This is one of the scariest days of my life. We go to the big children's hospital instead of our local hospital and head for the Neuroradiology department. B's isn't allowed any food, only water in the morning and that's it. He is going under general anaesthetic and I'm terrified. When they put him under he goes all floppy and looks more asleep then when he's asleep (he normally fidgets in his sleep). He looks dead to me and I burst into tears. I know he will be fine but I don't like seeing him like that. I'm so glad B's daddy is with me for comfort. I would never have got through this appointment on my own. We have to wait patiently whilst they take our sleeping prince off for the scan. It doesn't take too long but when they bring him back to ward he is still asleep and has difficulty waking up. It's such a relief when he does wake up and gets back to his normal cheeky self. Now we have to wait again for the results of the scan.

Orthotics

We are at Orthotics today to collect B's crash helmet and new boots!. Yay

This is probably one of my favourite photos ever! Taken at Legoland. You can see both his helmet and his boots.

Orthotics

B has been referred by physio to Orthotics. He has an appointment today to be fitted for a crash helmet and special boots.

We choose black ones because they look like cool Dr Martins.

Blood tests

Bastian has to have loads of blood tests. They are looking for haemoglobin and full blood count. Thyroid function, urea and electrolytes, serum creatine kinase, plasma amino acids, chromosome analysis and search for Fragile X. Also urine tests for amino acids and organic acids. Getting urine off B is a real challenge. He absolutely does not pee on demand. I have to stick this bag thingy over his credentials and put a nappy on. Most of the time they leak and you have to do it again. So annoying. And then you have to squeeze the wee out of the bag and into a tiny pot.