I'm Sophie, married to Simon and mum to Jeremiah (10), Isaac (8), Malachi (5), Ezekiel (3) and Zechariah (2). Also our 2 little ones in heaven, Eleanor (2005) and Elisha (2011).

Jeremiah has Autism.

Isaac has hypermobility syndrome/Ehlers Danlos type 3 and uses a wheelchair for anything other than very short distances.

Malachi has hypermobility and wears piedro boots to support his ankles

Ezekiel has a cleft palate, hydrocephalus, hypotonia and development delay

Zechariah was born with sepsis and has mild development delay.

Thursday, 18 August 2011

Malachi - 7 months

Yesterday Malachi had an appointment with Nicola.  Weight 14lb 10oz, length 64cm all fine.  She said that if she was meeting him for the first time with no knowledge of our family history she wouldn't be concerned with his development as he is on the lower end of normal.  His tone is better than before.  She has increased his meds probably for the last time and she is hopeful that he won't need them for much longer when he is sitting on his own and eating more solid food.  The microarray test came back and shows that Malachi has some extra bits of chromasones which might mean something but might not.  Isaac had the test done in 2009 but after a long time of faffing about they decided there wasn't enough blood to do the test.

I talked to the nurse from genetics today and Simon and I need to have the microarray test done to see if we have the same abnormalities that Malachi has.  The speed of testing has increased over the last 2 years so the results should be back in about a month.  We then have to decide whether to have Jeremiah and Isaac tested or not.  We will see the genetics consultant in about 3 months.

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