It’s been 3 years since I last posted on this blog but MPS Awareness day is coming up on Tuesday 15th May and this year I wanted to do something a little different. For families of children with rare conditions such as Mucopolysaccharidosis, awareness is all about hope. We one day hope that awareness can bring about change and potentially a cure for these life limiting, progressive diseases. Whilst advances in medicine may not help Jacob anymore, we can potentially stop other children having to go through as much medical intervention and pain as he does.
This year I wanted to try and illustrate what life is like for Jacob and I thought a photo series would be the perfect way to do this. There are many symptoms of Hurler Syndrome that aren’t visible (as the condition affects most parts of the body, including the major organs and the brain) however the skeletal abnormalities are something I knew I could focus on. Jacob’s entire body is developing abnormally. He has a severe kyphosis (curve of his lower back) which means he has to wear a back brace everyday to try and stop the progression. We recently found out however that the back brace isn’t doing it’s job and we may have to talk early surgical intervention. His hands have a clawed like appearance and are very stiff which means he cannot open his hand fully or flatten it. His hips are bilaterally displaced which is an abnormality of the hip joint on both sides. He has Genu Valgum which is another word for knock knee. As a result of the knock knee his ankles are caving inwards. He also has an abnormal shaped chest which is more aesthetic than anything, although it could potentially cause problems later on in life if it restricts any of his organs.
This major symptom of Hurlers is one that causes Jacob chronic pain. He requires regular pain medication to try and ease the discomfort but even with this, will complain of pain in his hands, feet and legs. Recently he’s starting complaining of pain in his hips and spine too. He will regularly wake up crying in the night as the pain is so severe.
All of this means that Jacob has limited mobility. He cannot manage stairs without support and he uses a wheelchair for outside or long distances. There is nothing that will cure the skeletal issues associated with Hurlers, Jacob will ultimately require a lot of orthopaedic surgeries to try and stop the progression.
Jacob has surgery scheduled for next Monday. It is surgery to redo his current feeding site into his stomach as the current one leaks and never healed properly. The surgeon is also going to cut jacob open and try to stop his constant vomiting after his original procedure (nissens fundoplication) failed a while back. I have to admit, as the surgery draws nearer, I keep getting small panic attacks thinking about the “what ifs”. It isn’t a small surgery and will require time in intensive care. Any anaesthetic is very risky for children with hurler syndrome as their airways aren’t great. Throw in the mix Jacob’s lung disease and you havent got a good combination. With jacob doing so well at the moment, my biggest fear is always “what if I lose him?”. I know this won’t be Jacob’s last surgery and I will always have this fear hanging over me. When I look at my little boy I get this overwhelming thought… Life just isn’t fair sometimes.
Last week, Jacob got his new walking frame from the physio. In the past couple of months he has come on so much. He can pull himself to standing and cruise (albeit slowly) around furniture. The next step is to get him walking independently. I’m under no illusion that this could take months, if not years. Or he may never be able to do it. I’ve noticed recently that he lacks balance and a core strength. If he tries to stand unaided he falls forward. However. If you hold his hips and lower back in tightly then it gives him a stronger base and he can manage to stand by himself. Potentially some orthotics could help this but we’ll have to wait and see. The walking frame in the meantime though has brought a whole new world to jacob. For the first time in his life, he is no longer dependent on me to help him walk around. It took him a while to understand that he can hold on to the frame and push and walk around by himself, but now he’s realised it he loves it! It’s hard to describe what it’s like seeing your child who has struggled all his life with mobility, move around without your help. It may only be a metre or so at the moment, but I know as his confidence and strength grows, so will his independence. I videoed him last night and I can’t stop watching it. It really does melt my heart! My little boy is one of the bravest, most determined people I’ve ever met. Having a little brother has definitely helped him with his development. In the past couple of days I’ve also watched him copy his brother and do a crawling motion, instead of hopping about. He also managed to climb onto the sofa all by himself!! He’s also recently learnt the word “no”, which I’m starting to regret teaching him…! i’ll leave you with the video for now though… https://www.facebook.com/1563454103926873/videos/vb.1563454103926873/1621183454820604/?type=2&theater¬if_t=likeid=1563454103926873&ref=bookmarks
Yesterday Jacob’s Speech and Language Therapist came to our house for a communication appointment. We haven’t seen her for at least six weeks and since then Jacob has stalled in his development. I’m currently in the process of trying to put together an A5 folder with pages of symbols and words so we can start PECS (Picture Exchange Communication System) but this isn’t ready yet. She said she was quite keen to get Jacob moving with his communication so she’s going to come back in a couple of weeks when the folder is set up. We then booked in an intensive three week block of appointments to try different activities and games with him, however she didn’t have any time to do this until August (go figure!).
There wasn’t much we could do in yesterday’s appointment, however she looked through some books with Jacob and tried to engage him in conversation about them. One of the books was a Mr Tumble book about shapes, colours and feelings which also includes Makaton signs. Whilst she was going through the book with him something dawned on me that until now, I guess I hadn’t even realised – Jacob doesn’t know what any colours or shapes are. He knows his favourites, blue and star, but other than that he can’t pick out anything you ask him to. The moment I realised this it really upset me. I thought his understanding was a lot further on than it actually is and even his Speech therapist commented on how we’d have to work on objects and vocabulary as she thought he knew this already.
All i can keep thinking now is, how did i miss this!? How did i come to think Jacob knew more than he actually does? I don’t know why but I did feel genuinely upset yesterday with the realisation that he couldn’t pick out any objects when asked. Today is a new day and i feel stupid for being upset. All that matters to me is that Jacob is happy and well, if he doesn’t know any other shapes or colours than blue or star, who even cares!?
Every Wednesday morning, Jacob has a carer that comes to our house for four hours, to enable me to take Milo out and have a little break. Well, this was my initial plan when I put the care package in place. However, much to my dismay, it’s not ended up that way.
Today was the third Wednesday that Faye has come round and Jacob still has not settled into the situation well. For the past two years, I have been his main carer and if he’s not with me, he’s with his dad. He isn’t very good with people he doesn’t know very well, which stems from all his hospital visits and a fear of people prodding or poking him. So, for us to now introduce a stranger into our house who he’s left alone with has caused him some distress. I’ve tried just leaving the house whilst he’s screaming, in the hope that the whole “out of sight, out of mind” tactic might work, but it didn’t. Today I tried just doing some housework whilst Faye was playing with him in the thought that my presence might reassure him everything was ok. Unfortunately this tactic also went horribly wrong and I spent the whole time torn between what to do as he screamed for nearly the entire time she was here.
If i’m completely honest, I just want to give up on the whole idea but I know i can’t. At some point he HAS to be comfortable with me leaving him as he will eventually go to school! I feel mentally and physically drained tonight by the day’s events. Even writing this post is an effort. However tomorrow is a new day and i know i’ll pick myself up and carry on. We’ve got our family worker, Amy, from Rainbow trust children’s charity coming round to spend the morning with us. She will help take care of Milo and give us a bit of company as it can get a bit boring still being stuck in semi isolation.
I have to apologise to anyone that follows Jacob’s blog, I have lost my way a bit with writing. I’ve been so caught up in our daily lives and endless hospital appointments that sometimes I find it hard to focus on anything else. I am going to make a concerted effort to update this blog a little more regularly. I started up a Facebook page a little while ago that I find quicker and easier to manage so I found myself concentrating on that more. For anyone interested, the page is – https://www.facebook.com/pages/Jacobs-fight/1563454103926873?ref=hl. You can like and follow Jacob’s fight via that link.
In terms of Jacob, there isn’t much to update on. We’re still ploughing on through his post bone marrow transplant recovery. His immune system still hasn’t fully reconstituted meaning we’re still in semi isolation at home. It’s been 9 months now and i’ve started to feel disheartened by the whole process. Life can be difficult when you can’t go anywhere or do anything and keeping a baby and a toddler amused on a daily basis can be a struggle. Our lives are fairly mundane and i have to keep telling that this is only temporary… at some point down the line, we will be allowed our freedom again!
The main thing i wanted to share in this blog post is an unexpected letter we received from Jacob’s bone marrow donor last week. When we visited Great Ormond street for his monthly review, the outpatient receptionist handed us a letter that had travelled all the way from Germany, via the charity Anthony Nolan. It caught me completely off guard and I have to confess, I nearly cried in the middle of a packed waiting room! The whole donation process has to be done anonymously and you receive very few details about the person who is effectively saving your child’s life. I wasn’t aware we could send letters but now I know we can it’s something I will definitely be doing. It’s a strange letter to write though, as I don’t believe there is any way in the world I can express just how much I owe this lady. How do i even begin to say thank you!? Her letter is so beautifully written that I don’t think mine will ever match up to hers…