4 Months On – Williams Syndrome

Another eventful month

Genetic Counseling

Interestingly there is two schools of thought with Williams. Firstly is that it just happens randomly. The second is that it can be inherited from a parent. My last blog post said that I had a video call with a doctor from my referral arrange through my GP. We still haven’t heard about the ‘family referral’ the hospital has arranged. My video call was quite useful.

We chatted about my family history and the doctor agreed that I should be tested. I explained how we’d not heard anythign about the family referral and she offered to add My Lovely Wife’s details and My Lovely Wife also got interviewed and had her family history documented. We could both get tested and the doctor would arrange that. The ‘good news’ was that we should get a request for the blood test in about a month. The ‘bad news’ is that it would then take 3 months for the results to come. 4 months from the day of the call. What a pain! On the plus side, the doctor explained that Wiggly-Squiggly didn’t need testing and that they could use other tests if we had Williams Syndrome concerns about her, but otherwise she could be just left to be a Wiggly-Squiggly.

That’s about it for me. I’m not that interesting. Lets go back to the main event.

Physiotherapy

A strange one this. One day My Lovely Wife got a call that started with ‘As you are aware, your son has been referred for Physiotherapy…’. Dear reader, we were not aware! Another case of no-one telling us anything. It would be funny if it wasn’t so serious. Why do we never get told about anything that is happening? It turns out they had an appointment in 2 days time if we could attend that, if not, it might not be for months. So we dropped everything, I re-arranged my work calendar and had two days wondering what we would be told this time.

About 30 minutes after putting the phone down, My Lovely Wife had another call booking us in for ANOTHER Physiotherapy session. My Lovely Wife explained that we had literally just had an appointment made but apparently this is for a different team. Why have 1 meeting with two groups of professionals in it when you can have two meetings and know you are making the parent’s lives just a little harder?

We booked a taxi to the appointment because there is no parking in London and there is a congestion charge to deal with. If the appointment is 2+ hours we can spend £25-£30 just to get to the appointment and a taxi is a similar cost but with no worry about parking – a big issue with London. However, no-one arranging appointments cares how you get there or the cost. That as ‘you’ problem, not a ‘them’ probelms.

For reasons that neither of us understand, we managed to get our appointment time completely wrong. We thought it was for 10am but it was for 3pm! We discovered this on the taxi on the way there and so spent another £7.50 to get the taxi to take us back home, in readiness for the afternoon’s trip! What can I say? We are both pretty tired at the moment.

Arriving on time we sit in the waiting area and the receptionist takes our details. Our appointment time comes and goes and we aren’t called forward. Then the receptionist asks if we have an appointment. We explain we do. She says she has left a couple of messages for the person we are seeing. A bit later she wants to see the copy of our appointment letter. Luckily it had been emailed to us so we showed her. She went off again. Eventually she tells us that this person doesn’t work there. BUT…someone else with a similar name does so we should wait for her as she is on her way.

10 minutes later she appears. It turns out no-one exists with the name of the person we were booked to see. The lady we are seeing has the same first name but a different surname. She also doesn’t have our appointment in her calendar but IS able to see us. Phew! But more additional stress that neither me nor My Lovely Wife need.

Physio Session

With no idea what would be happening I must say it was a pleasure to attend this. Firstly, the person hadn’t read our case (it wasn’t in her diary!) so asked us what was going on. My Lovely Wife dumped everything on her and she dealt with it well. She also explained that his head shape could just be how he is sleeping and lying down so with some more tummy time/sitting time and trying to make him sleep on his other side, it should correct itself. After spending about 15 minutes on the floor playing with the little fella, she explained that his movements and development look to be on plan. He also had good head control and leg/arm control. This was music to My Lovely Wife and I’s ears.

We still have another Physio session in a couple of weeks with a new team but hopefully the little fella will be continuing to track well and maybe we wont need as many regular physio appointment.

What’s Next?

We’ve had one of the two Physio appointments so still one to go. We are also waiting to be assigned a consultant pediatrician. Then we are waiting to have our blood taken and tested. The other thing we are looking to do is join the Williams Syndrome Foundation as we hope they can help give us some more understanding on what to expect and how to support the little fella as he grows.

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