I wasn't going to blog today, as I only blogged yesterday, but a lot happened today, well, one phonecall happened today, but it was a major phonecall and it knocked me sideways for a couple of hours.
I have been awaiting a response from Rowan's consultant at GOSH after a sent a big message on PKB (Patients Know Best, it's kind of like facebook, but for patients and the Gastro team at GOSH, and I use it all the time). I telephoned GOSH yesterday to update them on the local Paediatrician appointment we had had, and I was told I would be receiving a call yesterday. Being a consultant in a hospital often means they can't make calls at the time they say, and as we are also extremely busy trying to find time to talk in either of our schedules can be tricky and it just didn't happen yesterday.
Basically, Rowan has been experiencing a lot of pain in his legs. He gets very tired, they hurt, he is in bed at 4pm, crying, his legs just 'give out' under him and he falls flat on his face. The more he does, the more pain he is in. I have been chasing pain relief for him for about 2 weeks now. At the moment we are using calpol and nurofen. Normally this is fine, but because he has a Hickman Line, we have to keep an eye on him for infections, and our biggest marker is him having a temperature. With calpol and nurofen, it lowers the temperature, so we won't see if he has a temperature or not, therefore we may miss a line infection, which could be very very serious. But we had no other options.
We have been chasing for a while, because of hospital politics. GOSH see Rowan for 'gastro' problems and 'endocrine' problems. Not for 'leg pain' problems. So it took me a while to figure out who I needed to hound to get something prescribed for Rowan. It turned out it was our local team. So I started hassling them, there has been a communication error, again, and it would appear one of our local team doctors has received an email from GOSH about Rowan's leg pain, but failed to put it on the system before he went on annual leave, complicating the situation further. We had an appointment yesterday with the local paediatrician. He wanted to prescribe codeine. Rowan's consultant at GOSH said he can not have codeine.
One of Rowan's complications is that he has chronic constipation and gut dysmotility. If we gave him codeine there is a risk that it will slow this down further and he could end up in a HUGE mess. As it is he is on a ridiculous amount of laxatives for someone so small. So it was decided no, and we had a discussion about it, and what potentially could happen, and I agree it's too risky. However, I was convinced there must be an alternative. It's not fair for a 3 year old to be in so much pain from doing something as simple as walking. In bed by 4, crying for 'leg medsun'. How many 3 year olds ASK for bed at 4pm?
So, today the phonecall happened. I was so appreciative that she went out of her way to phone me. She could have fobbed me off until the 30th when Rowan goes to hospital for a few days under the endocrine team. Infact, that was what I expected. I either expected a very quick, to the point message on PKB, or to be told we'll discuss it when he's an inpatient. But she didn't. She phoned me. She wanted to ensure that we discussed things properly, that I understood and that I was happier. She also wanted to see how I was, and how our 'social care' situation was. When we were going through the child protection process, between being told I was putting my children at risk, and actually getting to the conference we had a GOSH appointment with the consultant. I was a mess. I cried my way through the appointment, I said a lot of things that she really didn't need to hear, but she was very understanding. Since the child protection conference, people have been a little more wary about piling things on to me to do. Or leaving me months and months with no answers because the anxiety is crippling. It's awful for any parent. So often, people will word things, so that I know there is 'hope' without getting my hopes up. So that I am not left hanging, or expect things that aren't going to happen. I really appreciate the way the Gastro Team handle me, no matter what state I am in at the time.
Rowan's consultant is aware that I am struggling mentally at the moment, and this is the reason she phoned me. We started off by discussing Rowan's PEG. This is is gastrostomy tube. At the moment it is a long dangly tube, and Rowan HATES it. He requested it to be changed to a button. He has a button in his jejunostomy, so he knows what he wants. Usually the PEG is left in for 12-18 months, but as Rowan asked specifically, he is having it changed a lot sooner. The form has been filled, so it's a case of waiting for the appointment now. I am so pleased that they acted on his request, that he knows that they appreciate his opinion.
There were several other things that needed discussing. There have been several concerns over Rowan's hypothalmus recently. His temperature drops to hypothermia levels (too cold) and soars to over 40 degrees for no reason. There are a few other 'signs' that have been spotted that his hypothalmus is broken. He has clinical features of this, but really his consultant wants to pin down whether he has a complex problem with it or not. So she has spoken to another Endocrine doctor, and he knows someone in Cambridge who may want to see Rowan. He is a Neuro-Endocrinologist. It all sounded very complicated and I got a little lost, but basically this doctor looks at the hormones produced by the brain. I did feel a bit of idiot, as I didn't realise the brain produced hormones. You learn something new every day! So that is in the pipeline.
Rowan also needs a liver biopsy. He was discussed at their monthly meeting the other day, and it is agreed that a referral will be made to King's College Hospital, to see a liver specialist. To begin with I was a little confused as to why we were going to King's, as although Rowan's liver is a little bit up and down, it's ok. Basically, the liver holds a lot of vital information. It can show up a lot of different diagnosis' or problems, and seen as there are very few results that Rowan has that are 'unusual' it is the next step. So they will take a little piece of his liver and look at it, and see if they can find anything from it that will help us to help Rowan. While he is there, and under anaestheic for the liver biopsy, they will take a skin and muscle biopsy as well. This is a test that was requested about 18 months ago, but, due to Rowan's poor health, it was decided that there was no point. Now that Rowan is doing so well, it's time to revisit this test. A skin and muscle biopsy takes a bit of skin and a bit of muscle. It can also show up lots of information, from metabolic diseases to connective tissue disorders. This will leave a scar, which I am sure Rowan won't be too thrilled about, but I'm sure we can bring him around somehow.
Rowan will be re referred to a geneticist. Rowan has been seen by a couple of geneticists in his life, but they never found anything wrong with Rowan. He only had basic tests though, along with a test for 16p11.2 microdeletion (as Cameron has it) which came up negative. Because Rowan was so so poorly and was not expected to pull through, a lot of appointments he 'should' have had, were cancelled, or forgotten, or seen as 'unnecessary in light of the current cirumstances'. This will require more bloods taking, and sending them off for testing, some of the tests will take months and months to come back. They will look at Rowan's DNA and his chromosomes and see if there is anything 'unusual' in them that may explain some or all of the problems he is having. We are always told that just because genetics can't find something, doesn't mean that there isn't a problem there. It's just a box to tick.
Because Rowan's so complicated, and we don't really have any clue what we're dealing with with him, he is also being referred to a metabolic doctor. They look at the way Rowan metabolises things. There are a lot of metabolic disorders out there. A lot of them are unknown or rare. I think the general feeling is that Rowan may have something like Mitochondrial Disease (please don't google it, it's scary!). He fits a lot of the 'tick boxes' but he fits a lot of boxes for a lot of labels, but doesn't 'quite' fit. It's just another avenue that needs to be explored. As his consultant said today, she wants everyone thinking about Rowan. (Creepy).
Rowan has a problem with his vitamin D. Now I knew about 6 month ago that he had a problem. He had an injection of Vitamin D, to boost his levels, and then they increased the amount of Vitamin D in his TPN (Intravenous nutrition). I assumed as I heard nothing else that this had 'fixed' the problem. I was wrong. Very wrong. The huge amount of Vitamin D that he has had, has done nothing to his level. I never really understood the importance of Vitamins and Minerals. I am still on a learning curve. But with a Vitamin D deficiency, it means Rowan's bones are brittle. It doesn't really help that he is walking on his own, but clumsily, and falls over all the time. It puts him at risk of breaking a bone. So we have to keep an extremely close eye on him for any signs of a breakage.
While we in in GOSH Rowan had a bone age xray. They take an xray of the children's wrists, and from that they can work out the bone age. Basically, for average children, their bone age will be about the same as their actual age. But with children who are growth hormone deficient, or are on the small size, you want a result that is as far behind their actual age as possible as this means they have longer to grow before they reach their final height. Well, I still don't know what Rowan's bone age is, I keep forgetting to ask, but it was identified in that xray that Rowan has very thin bones. Very thin bones that mean easier to break. Combine this with the vitamin D deficiency and we are looking at more 'when he breaks a bone' than 'if he breaks a bone'. Also, because Rowan has had a sudden increase in muscle mass as he is moving about, this may be putting extra strain on those thin bones. We are now wondering if this is what is causing his leg pains possibly. All his bones are thin.
And so onto leg pain. His consultant tried to leave this until the very end, and I knew that never means good news. There was a big discussion about Rowan's leg pain, and his feel swelling up. There are no options that are suitable for Rowan's leg pain, that won't cause gastro problems. And we can't risk gastro problems, he has enough of those already. I was devastated. How can there be no pain relief options!? We haven't even tried anything! We talked through it, we discussed how we would be able to 'fix' any potential problems, and the fact is, we can't. Rowan is so fragile, that the tiniest change can mean a 3kg weight loss in a couple of weeks, and him being very very very poorly, and he is so difficult to get back to 'normal'. So his consultant said, she would think about his options, and research and see what she can find out for me. She apologised over and over, and I could tell she was as disappointed as I am. She did say that she would speak to our physio at GOSH and see if they had any options. He will be having a hip and leg xray soon, to see if they can see anything there. The focus needs to be on finding out what is causing the pain, once we know what the pain is, we may be able to treat it better.
So, for now, nothing changes. Lots of hospital appointements and stays are planned, added on top of appointments we are already waiting for. We are going to be very busy. From neuro endocrinologist, to metabolic, genetics, peg change, physio, MRIs, vitamin D problems, risks of breaks, manometry, lung vq, to add to our already huge list, and to add to that, any tests that the new 'teams' want to undertake. For now, it's one day at a time. Planning for the trip to GOSH on the 30th for his Endocrine review. I have a feeling we are going to get bombarded with visitors while we are there, and lots of train journeys to London to add into our already chaotic life. It seems really daunting now, but in a few weeks time, we'll just be getting on with whatever is necessary at the time.
I had a blip earlier, and I cried. The older Rowan gets, the more problems we seem to find, with even less answers. Have everything crossed that, if nothing else, Rowan gets some kind of pain relief. Right now I am up for any suggestions on how to ease his pain. It makes my heart hurt that he is in pain every day, just trying to do what all 3 year olds do, and his body protesting, knowing that there is nothing I can do to help him. Nothing worse than feeling helpless and useless. It's clearly a reminder that, although Rowan is gaining weight, and developing and doing well, he is a medically fragile little boy. I have been lulled into a false sense of security, I'm sure I'm not the only one. From speaking to the consultant today, it felt like she was as surprised with all these problems as I was.
One day at time.