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Propionic Acidemia

Reece suffered his 1st metabolic crisis at 2 days old & was given the official diagnosis of Propionic Acidemia at 5 days old.  Thankfully for us we were in the right place at the right time and the consultant who was caring for him knew within 3 hours that he was dealing with a metabolic disorder – he just didn’t know which one! He spent 3 weeks in the Neonatal Unit before coming home & those 1st 6 months were probably the best we’ve had, He done amazing, drinking all his milk via bottle & taking his medication orally. He was discharged with an NG tube but I removed that after 2 weeks because I never used it. He met all his early milestones, he was doing that well that as a family we questioned this horrendous diagnosis we had been given!!

But at exactly 6 months old (to the day) the effects of PA reared its ugly head & hit us all like a tonne of bricks. After a couple of days of poor feeding, he began to vomit so was promptly admitted into hospital. Over the next few days I watched him deteriorate before my eyes, he lost all movement, the brightness in his eyes had gone & he was so pale & clammy. The only treatment I was told he could receive was no protein for a few days & then reintroduce it slowly. His ammonia was 47-50 throughout the whole episode. The minute we reintroduced protein (at the bare minimum); he started to display signs of what they thought was an epileptic fit! So he was very quickly taken over to the specialist hospital where they performed an emergency EEG which was normal! So the diagnosis of a metabolic stroke was given. We eventually managed to get him stable enough to go home but boy did he have to work hard at his recovery. It took him nearly 6 months to learn to sit up by himself again.

At the time of his first stroke (he has recently just taken another one) he was receiving 1.5grams of protein per kg/day – following the stroke this was reduced to 1g and he has been on that until very recently. He has had countless sick days due to increased wobbliness, twitching and a vacant look in his eyes, I believe he has been taking mini strokes all along but the medical team says these episodes have all been caused by a mystery virus. We very recently changed areas which mean a whole new medical team and 3 weeks ago he was admitted to hospital due to another confirmed stroke, this time his protein has been reduced to 0.7g per kg/day. We are all very unsure whether this will keep him stable for long enough but so far he has been doing well. I’m keeping my fingers crossed!

Developmentally he is about 12 months delayed and physically about 2.5 years delayed. He is nonverbal & is profoundly deaf in both ears. He is starting to use sign language, but doesn’t need it because he’s very good at getting his wants/ needs across! Despite all his obstacles, he is the happiest, cheekiest & most loving little boy I have ever met. He has taught me so much more than I can ever teach him; he has shown me that unconditional love really does hold no boundaries. His smile could light up any room & his giggle will lighten the heaviest of heart. He amazes me every single day & despite living with this awful illness I feel privileged to be the person chosen to look after him.

Scotland, United Kingdom

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