Undiagnosed and Invisible

Feeding, special needs, parenting, Finley, school, undiagnosed, nursery, confused, invisible, disabled child, support

Did you know that it is possible to be sick and have a list of medical issues as long as your arm and yet still have no one who can tell you what the problem is?

Did you also know that it is possible to look absolutely fine while still having all of these problems?

F is a SWAN (syndrome without a name). I didn’t realise that this was even a thing until I had him and was thrown into this confusing, complicated world of fighting for everything.

I’m a nurse and believe in medical science and that people get sick, get diagnosed and get treated. I never thought that there were families out there fighting to get recognised. I see people every day coming through the hospital being treated for problems that have symptoms similar to F’s yet we can’t get help because we don’t know what to treat.

Imagine not being able to tell people what is wrong with your child or why they need to be tube-fed or sign makaton.

Imagine having to defend your actions and your child’s treatment because your child looks fine.

Did you know that if a child looks fine and has no diagnosis then people presume they are fine and it is the parents’ fault/problem/issue?

It seems unbelievable in this day and age that such ignorance exists but it happens all the time; sometimes it is heartbreaking like when after a week in hospital, lots of trouble with F’s tummy and tube, lack of sleep and him being so ill, a member of staff at his nursery made an off the cuff remark saying ‘well he doesn’t need the tube anyway’ followed by the phrase ‘he looks fine.’

Hmm … what he looks like has no bearing on whether his insides work or not but thanks for the opinion that I didn’t ask for or need, I thought.

Even in hospital he raises eyebrows.

Why is he jejunostomy fed? We don’t know.

Why is he so low toned? We don’t know

Why was his speech delayed? We don’t know

Why does he need a supported chair? He has low toned and no we don’t know why.

Then we lead on to filling out forms or answering hospital questions.

What condition does your child have?

It seems like an easy question to answer but when you don’t have a diagnosis, all you have are a list of little problems that don’t count as a diagnosis and mean that you don’t get the help that you need.

Each specialist that you see only deals with the one little problem that you see them for and because they have no underlying diagnosis to work with no one works with the other so each person sees their problem as no big deal and it is left to us, F’s parents to push for help.

F has two issues that affect his posture and ability to sit and walk. He is both hyper mobile and has hypotonia. This means that his joints are loose and bend more than they should and also he is floppier than normal as his muscles are weaker too.

Together this means that he has a lot of trouble especially when tired to even sit up. Those who know him will notice that he can walk and play and sit up ok but once tired he has trouble even holding his head up as he gets so floppy. This happens much more than it should for a child who is nearly three years old and leaves him floppy like a newborn and in pain from overdoing it.

Then because we see a different physio for each problem only one problem is taken into consideration at once so we are just left to deal with it and have had to get help from a charity to fund a specialist pushchair and car seat that can deal with F when he is floppy.

If he had a diagnosis of cerebral palsy or something similar he would have a team of people that all address his postural needs and make sure that he is dealt with but because F is just seen as low toned by his physio it isn’t felt that he needs a team around him.

Confused? Tell me about it. We feel let down and I struggle with the feelings of being helpless, I also suffer with a confidence crisis that surely if he has a serious problem then they would know what it is so therefore I must be worrying over nothing. This is an awful feeling. The hospital sees what we see and they are trying to find out the answers to some questions.

This is just something that gets to me every now and then, usually when I have had questions on what is wrong with F. Some days I feel like typing all his problems into Google and seeing what it comes up with but that doesn’t help anyone; Dr Google is one scary doctor.

For now I will go back to what I do every day: I chase doctors and specialists – 20 to be exact. There are 20 different people involved with my little one and I will try and get them to talk to each other.

We are luckier than some in that we do have a couple of partial diagnoses that may or not be the cause of F’s problems. We know through genetics that F has a small deletion on chromosome 14q21.2. Sadly this isn’t associated with any known condition. In the future this might give us answers if they find other people with the same deletion that have the same problems.

Finley also has hypermobility, Ehlers-Danlos syndrome. This can account for the hypermobility and may be linked to the dysmotility of his gut which is the reason that he is tube fed. No one can say for sure so for now F is still a SWAN.

SWAN UK is an amazing network that is full of families just like us. Our children don’t all have the same symptoms but they are all in limbo without a diagnosis.

We get support and advice from them and have finally found somewhere that we fit. People that get it when you are feeling frustrated or lost. We managed to find this lovely network through word of mouth through a Facebook friend. I’m writing this today because there will be thousands of families out there that need this support, that are feeling lost and scared and angry that need to find us.

This needs to be shared far and wide to help find those families.


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