Return of the poo

I've being trying to get hold of B's paediatrician all week but her email is bouncing and no returned phone call. We haven't seen her at least for a year, possibly longer and in light of his new diagnosis I have many questions to ask her. We are still waiting on results of his EEG, official bloodtest results from the lab, me and hubby's bloodtest results from the genetic lab. I want a copy of his MRI brain scan results which I have never seen.

Also this week fun challenge of collecting another poo sample. This is a difficult task in all ways. It's not fun. I need a 'fresh' sample so within 24 hours. I can't catch his poo at school and I'm not willing to make a request for them to send home a pooey nappy for me to open and retrieve poo. So B this morning decides to provide me a nice sample to collect which I promptly do and then it's a mad dash to the hospital to get it there on time... It's a nasty job but someone has to do it. They give you a tiny scoop and bottle. I can't decide how much to scoop, how much do they need to make a test? And do they want sweetcorn or not?

Sorry if this is too much information (no I'm not sorry you are reading this blog because you are joining me on this adventure all the way - insert maniacal laugh here).

En route to car I bump into sister-in-law herein known as S. S gets roped into the journey with me. I'm going down and I'm taking as many people with me. B is pleased to see S in the car. His happy. It's an hour round trip to hospital in the car and traffic. I'm glad S is keeping me company. The poo in the medic bag is sitting on the back seat. I feel like it's a scene from a movie. We pass a runaway bride in the High Street. She's a long way from the registry office and being comforted by either passers by or family members it's not clear. I feel a bit sorry for her but on with the mission.

We get to the hospital and B knows exactly where he is going. But we get to the children's' OPD and it's closed! I can't believe it. All this trouble and it's closed. I'm determined to get this poo sample off. I do not want to take it home. I don't want to repeat it. We try the children's' ward and collar a nurse. She's sympathetic about the poo and wants to get it to the right department too so she sends it off in one of those awesome sucky tube thingies. We wave goodbye to the poo and head off again. I feel quite relieved that it's finally gone but also wondering WHERE has it gone? That tube could get anywhere in the hospital. S tries to reassure me. It's labelled so that's good. The question now is will I ever get results from this test or will I get a call to repeat it again with a fresh sample. Watch this space..

A t-shirt arrived for B this week that I had ordered especially from eBay. It says 22q13 Google it!

Doctor Poo

I got a letter today from the man we call the Poo Doctor. Really he is a Consultant Paediatrician in the area of gastroenterology. We went to see him in September because B has persistent loose stools and it's proving difficult to toilet train him.  The results of the poo sample (that was fun collecting that I can ensure you - not) indicated a normal haemoglobin but a slightly low serum ferritin. Plasma, lactate and uric acid were normal. Eosinophil count was very mildly elevated but there was no history available of any allergic diathesis or food allergy. Elastase was normal. And not sufficient to test for reducing substances.

Suggested iron supplements and recheck full blood count and ferritin after three months. And fresh sample of stool (fantastic!) to be sent to look for reducing substances. And no routine follow up.

Letter from the health clinic

I've got a letter today about B's review at the health clinic. The results of the investigations show CF phenotype no mutation identified. Anaemia with low haematocrit and low ferritin. Renal function, liver function, bone profile and TSH all normal. Immunology including auto-antibody screen and Elat screen - pending.

She reports that B is pale and bright-eyed and interested in his surroundings, his siblings, and her. He is well perfused with warm peripheries. His feet were not purple and she did not feel they were particularly swollen. Lying prone he would rest on his elbows with his neck to one side but not pushing up. He did reach out for a toy outside of his reach and kick his legs a little but gave up. He showed good resistance to her hand held against his feet. Place in supine he just lay contentedly. He sat well unsupported and had sideways and backwards saving reflexes. He has normal forward and downward parachute reflexes and normal tone posture and movement. His calves were a normal size.

In summary B does have some gross motor delay. He weight has significantly dropped through the centiles and he has iron deficiency anaemia.

So the plan for action is get B referred to a dietician. I agree to this so that we can be sure he is getting enough calories and appropriate food types. Check his stools for fat globules and alpha 1 antitriptazones to look for evidence of fat or protein mal-absorption. I get advice for helping his gross motor development. I've got to get B weighed in two months. And review him in the health clinic in 3 month's time. He is prescribed iron Sytron (sodium feredetate). And I have to get a change of prescription from prophylactic dose to treatment dose.