The last two weeks have been a bit stressful. It’s contained two visits to the hospital, night time wake ups, runny noses, sore bottoms, achy teeth and food poisoning in our household all combined with the stress and upheaval of moving house!
But that’s just like any family I suppose! Full of one drama or another! Luckily we have all survived and as the big move gets closer we are becoming more excited!
So, Joe had an appointment with the specialist CF team from Manchester hospital and although it was a stressful three hours for Joe, grandpa and me, it was also a positive experience.
Joe is terrified of the hospital and particularly of women who work in the hospital, so he pretty much screamed the place down for the whole visit from getting weighed and measured up until half an hour before the end where he collapsed in an exhausted heap on my lap and snored his way to the end of the appointment.
We saw our usual consultant, dietician, physiotherapist and lung nurse but were also joined by one of each from the Manchester team and the appointment involved looking at Joe’s progress over the past 18 months.
Joe’s physiotherapy has now increased to thirty repetitions of percussion and three minutes in each position instead of 20 reps and 2 minutes in each position. This is going to be a challenge as it is very rare that Joe will sit in the same position for more than a few seconds but we will get there in the end!
We were also advised to get him a physio blanket or mat- which is basically any blanket of your choice that you lay on the floor so he can lie on it when he has physio.
He will use the same mat/blanket every time so he associates getting the blanket out with having physio. We have chosen a lovely square quilt with cowboys on that my friend made him when he was born- its bright and colourful and he can look at the pictures on the mat while he has physiotherapy. He has christened it “fiz-fiz mat” and it seems to be working ok although he occasionally has cried when we have got it out as he knows he’s got to stop playing and have some physio!
Joe’s creon dosage (creon are enzymes that help him break down fat and digest it due to pancreatic insufficiency) has been adjusted as he is passing fat out of his stools and his lactulose dosage has to be adjusted daily depending on the state of his stools as he is fluctuating between being constipated and too loose. I also discovered that he needs to have his vitamin medications with creon to help him absorb them which I didn’t realise before. Luckily we do them with breakfast anyway so that’s not much of an issue.
The problems with his digestion and bowels are on-going still and i was on the phone to the dietician again today. His creon dosage and lactulose dosage are looked at meal by meal and poop by poop so its a bit confusing over here at the moment!
But although he seems to be passing fat through his stools the great news is that his weight and height are doing amazing! The Dieticians said it was the best weight and growth they had seen that day- he is on the 98th centile for weight and the 75th centile for height so we must be doing something right!
Other great news is that he can come off his domperidone medication (which stopped him from being sick after milk when he was a baby) and he also doesn’t need his atrovent inhaler unless particularly wheezy so that’s two less medications to worry about at the moment! He is continuing with the others but his flucloxacillin (which is oral antibiotics) has increased to 5 ml doses but he only needs it twice a day, so the amount is the same overall but it just means he only has it morning and eve rather than 2.5ml four times a day.
To add to all this information we found out that Joe has an incredibly rare genotype. The cystic Fibrosis trust currently has a campaign to get every one with CF to know their genotype “empowering them to take a proactive role in their care and get access to new treatments that are the right ‘fit’ for them.” You can find more information by clicking this link.
I went in armed with the question but they already had the information available for us, unfortunately they couldn’t explain it very well as he has a very rare gene:
He has heterozygous delta F508 (which is the most common CF gene) and heterozygous c.1201-1022dupTC which apparently is very unusual.
If anyone else out there has this genotype or knows anything about it then please let me know! When I typed the info into the CF genotype website it said this:
This size fits you:
There are over 1,400 different mutations that cause cystic fibrosis and we are continuing to find new ones. Your genotype is incredibly rare. Here at the Cystic Fibrosis Trust, we are funding research into a wide variety of new drugs that could benefit you, as well as drugs that are not specific to individual genotypes.
Please check back with this site from time to time, as we will be updating our information.
So overall Joe is doing really well- we just need to work on getting over his fear of female professionals!