This last week we have had a big old report back from GOSH detailing their findings from the neuro muscular team; we still haven’t had the results back from our long old stay up there but that’s under the neurology team.
It said everything we knew before, she’s globally delayed, she has fluctuating skills, kidney problems potential heart problems and temporary paralysis along with ‘syndrome features’.
We then turned the page and the genetist has been asked to come to our local hospital to talk to us, the first thought that came into my head was
That’s a bit scary when nothing has come back from the results!
However, we will go and see what they have to say. The neuromuscular team said in no uncertain way that whatever her condition it is 99% chance of it being genetic, meaning our children will need to be tested and depending on the condition our wider family will need to be spoken to and potentially tested to see if their a carrier. We had put this to the back of our mind however, thinking we would see what was found first before we start to worry! There is still that 1% chance and we will hold onto that 1% as tight as possible.
We have now officially been put under the National Specialised Team Dubowitz Neuromuscular Centre for Congenital Muscular Dystrophies and Myopathies… big old title!
This really took me off guard, back in November BBG had her first set of genetics testing and we were told in January that it was not a Muscular Dystrophy. We never thought we would see that condition again but it keeps creeping up in conversations. Since it was rementioned we did some digging and found out that there are rare conditions that don’t show up on the initial screenings that are considered a Muscular Dystrophy so we will wait and hold our breathe. As yet more blood has been taken for research and testing and these results can take up to 6 months to get back.
If you had said to me in November she may have a type of Musuclar Dystrophy or a Myopathy condition I would have cried, I would have said ‘how am I going to cope!’. Now I’ve had a few months of the unknown I feel that although I’d rather BBG have no condition, I’d be able to cope. We’ve found support charities, we have a support worker in fact, we found holiday clubs that cater for all disabilities, we’ve found charities who help finance adaptations and help with legal issues. We just feel better prepared. At the end of the day we may still change departments, the doctors may be going down a path and realise it’s completely the wrong path, which has happened before! We have been told it is life limiting, it’s not life limiting, it is life limiting etc etc we now just take everyday as it comes and celebrate all of BBGs victories.
We have also learnt BBG can surprise us in both positive and negative ways
This last few weeks, she is really trying to use her legs, she can now pull her self up however she is still very much leaning and holding on with her upper body, her legs still wobble like jelly and her hips give way quickly, however this is the first time she has ever even shown interest in trying to cruise around our furniture. We have learnt that BBG will suddenly want to do something and she will do everything in her power to do it. So she wants to stand, she is standing… she just doesn’t use her leg muscles she uses her arm muscles!
She has also learnt this past week to blow bubbles and raspberries! Considering her lip and jaw muscles are weak this is a massive achievement! It’s so lovely to see her covered in dribble but rather than being covered in it because she can’t swallow her spit and she can’t close her mouth, she is covered in dribble from playing! It just brings a tear to my eye!
She also keeps us on our toes! She reminds us that she isn’t quite right, she reminds us that although she’s progressing she isn’t well and suffers a lot.
Due to her not eating properly and only eating watery purees and breast milk she has started to get malnourished causing bruising to happen easily! She had her jabs and from her knee to her hip has one giant bruise on both sides, she rolled into a toy and has a bruise where the toy was, she falls a lot due to her condition and she gets bruises everywhere. We are going to the doctor tomorrow to get her on some supplements but we know a feeding tube is coming. She also choked a lot more than usual this week on her watery purees and breast milk, she would swallow and her neck muscles wouldn’t coordinate causes her to choke. Even though she does this a lot it still terrifies me!
She will be laughing with us and suddenly gasp for air and choke on her own spit! It makes me wary about making her laugh and as a mother all I want to do is hear her beautiful giggles!
She also reminds us the struggle of her paralysis. THis week has been terrible! She has had no strength! She started with her trunk muscles giving up one lunch when I was feeding her.
Then progressed. When Dad went to wake her up from her nap, he found her completely awake and completely with it, but instead of sitting playing with her rabbit, she just stared at him, did a slight smile and tried to get up but kept collapsing. Then she just laid on my lap unable to move just looking around the room and smiling when she got eye contact, but not moving. She suddenly gathered some energy went for a mini crawl then came back to me and laid on me, unable to move her limbs and feeling helpless, by this point she couldn’t even muster a smile.
This continued for a bit, with the odd moment of energy but basically limp. Then all of a sudden she was back to her usual self.
She is still a mystery and one that I am not sure if we will ever get to the bottom of but to see we now are under an actual team who deal with particular conditions gives me hope.
Is my SWAN about to find out what she has? Who knows but the future is looking clearer.