Rare Disease Day

Today is Rare Disease Day (http://www.rarediseaseday.org/article/what-is-rare-disease-day)! So I thought I'd take the opportunity to do a little update on my own little 'rarity'.

Since William was diagnosed with Type 1 diabetes in October it's been all go! The new diagnosis has created a lot of new problems and we've had to have lots of meetings to put plans into place for school, update William's EHCP and sort respite. It's all still very much ongoing and my weeks seem to be filled with meetings, appointment and emails.

December saw our first major illness since the diabetes diagnosis which brought up issues surrounding William's symptom management when he is unwell. The diabetes diagnosis complicates things when William is unwell and being unwell complicates the diabetes! We are hoping to meet soon with our two consultants and diabetes specialist nurse to put plans into place regarding William's diabetes management when he is more unwell. Because of the specialist equipment William uses to manage his diabetes, none of the nurses on the ward are able to support us in managing him during inpatient stays which puts a lot of pressure on Steve and I. We are also being put in touch with our local palliative and supportive care consultant in order to plan around William's diabetes management when he is very unwell. It is very unusual to have a child like William with type 1 so everyone is on slightly uncharted territory and we want to be as prepared as we can.

Earlier this month William was seen in the annual complex physical disability clinic, where for the first time it was suspected William might have developed a slight scoliosis. Children like William are very prone to developing scoliosis because their muscles don't work correctly and they don't stand and walk. We do everything we can to prevent William from developing scoliosis (24hr postural management, standing frame, supportive seating, sleep system) but in many cases it is just inevitable. Spinal surgery is a massive operation to endure and recover from and we were advised a couple of years ago that William wouldn't stand a good chance of surviving the surgery and we would likely need to consider scoliosis a terminal diagnosis for him. The discovery, therefore, that he might be developing scoliosis was a great worry.

He's getting a bit carried away with these diagnoses!

We took William for an x-ray the next day and thankfully the radiographer felt the x-ray didn't show signs of scoliosis yet but they did coincidentally discover another little quirk about William! They spotted on the spine x-ray that his 5th vertebrae has not fully closed up leading to a diagnosis of Spina Bifida Occulta. This is a condition he will have had his whole life and is unlikely to cause William much trouble given his other more complex diagnoses. He is at higher risk of developing UTIs (but he's never had one so far) and we have to take him for a kidney ultrasound to check for scaring on the kidneys caused by kidney reflux. This should be fairly simple to treat so all in all it's not something we are concerned about, it just makes William even more unique!

Finally, the day after the spine x-ray results we received a letter from our Genetics consultant. We first met with genetics in February 2011 where William's history was taken. Over the last 6 years numerous genes have been tested to try and locate the error or 'spelling mistake' in William's genes which has led to him having such a unique brain! All initial tests were clear so for several years we have been on a research trial called SPEED trying to locate the gene culprit! Finally two weeks ago we received a letter to say the trial has found a mistake on a gene called TUBA1A. Although this doesn't mean anything for William its good to finally get some answers! Steve and I have now been for blood tests so they can now look at our TUBA1A gene to see if we carry the same spelling mistake. We are seeing the geneticist in May to discuss the results. It is most likely that this error has occurred for the first time in William but there is a small chance Steve and/or I are carriers which in turn would potentially affect any future pregnancies. For now we just need to wait for May.

All in all it's been a bonkers few months!