Saturday, 12 December 2015

A weekend away

One of the fighter mums in America has become my friend as well as mentor. She's helping me to understand complex issues that little one's with Autism suffer from.  I'm not going to lie and say that I understand it all but with her help, I'm on my way. She told me about CFD and how she visited Dr Rossignol in the US to help diagnose this in her son. After 4 months her son is now in managed recovery. I can't imagine the complete joy and elation that she must now feel but when I asked her this she simply said "I have so many dear friends who are fighting for their children - I need to help them, help you, to help your children. Then I'll be happy".  This is the spirit of the mums that I come across in the online groups that I'm a part of -  even when their own child is recovered the fight isn't over.

CFD stands for Cerebral Folate Deficiency - here comes the science bit: 

Cerebral Folate Deficiency (CFD) is a relatively newly identified disorder in which there is low 5MTHF (5-methyltetrahydrofolate) in the CSF (cerebrospinal fluid) but normal 5-MTHF in the blood.  5-MTHF is the bioavailable form of folate.   Folic acid is the synthetic form of folate and supplementing with it can often makes problems worse and not better.  These kids need the bioavailable form of folate.  When there is not enough, developmental delays can occur.  Symptoms can manifest as irritability, poor sleep, gross motor problems, seizures and developmental delay among other symptoms. You can read more about it here. 

No one tests for this in the UK yet - the man who discovers the FRA antibodies which determine CFD is in Belgium. Dr Ramaekers. But..the man who has taken on his studies and has recovered many little ones is Dr Rossignol. He is the most reputable and most successful doctor for ASD. but as taking a trip to the US is a huge expense we thought we would try our luck in Belgium first! 

Despite Belgium being in high alert for terrorists on the weekend that we had booked in to see Dr Raemakers, we went ahead with our appointment. We drove to France through the tunnel and despite a couple of hours hold up in traffic we got through just fine! Border control in Belgium was as thorough as expected (3 police men holding guns with fags in their mouths casually watching cars drive by). 

It was also the weekend of the Davis cup so all properties were fully booked up - we managed to find one last place available and my goodness did we love it! More of that later. 
We arrived late in the day so the boys had dinner and then it was time for bed - Joey wasn't at all well and asked to go straight to sleep which meant that he missed out on having a bath in Xanders gorgeous corner bath! I hopped in to keep Xander company :)

The next morning we had an early start and Matthew and I held our breaths as we began our journey to Dr Ramerkers house - yes house. Apparently holding appointments at your house is all very normal for doctors in Belgium! As we arrived we were relieved to find that he had a waiting room and all looked very professional. The waiting room was kitted out with toys which kept the boys busy whilst we waited.

Dr Ramaekers called us in and the boys instatsntly liked his office - there were a lot of doors to pull open and shut - result! Dr Ramaekers spoke to us for a while about what he was going to test for and took a lot of information from us - our family history and the boys birth and vaccinations. The time came for blood tests - crunch time. I had told 

Matthew that I would hold the boys during their tests as I had been through it all before a million times when they were babies - it was me who held their hands and I wasn't about to stop now. As I held Xander and listened to his cries, i got instant flashbacks of the most painful memories from their time in NCU and although I tried to hold it together I couldn't help but bawl like a baby. Xander and I were covered in tears by the time he had finished - I was an emotional wreck and suggested Matthew held Joey for his. Matthew of course hasn't let me live this down! So much for a fighter mumma! I hid under Dr Ramaekers desk with Xander so he didn't see Joey getting upset. Joeys veins were so damaged from the tests he had as a baby that he had to take blood from his hand but he managed it and Joey although not liking it, did a lot better than Xander - maybe because he didn't have a sobbing mumma holding him!

Dr Ramaekers took blood from Matthew and I too (Ok yes I lay down for mine - it had been an emotional day!).  Joey decided that he likes Dr Ramaekers and told him that he looks like Grandpa. In an effort to appease the look on Dr R's face Matthew told him that Grandpa was actually very young looking! An awkward silence followed but thank God it never lasts long with the boys around so we were all back to stoping the boys from opening cupboards and doors before we knew it. 

Dr Ramaekers is a kind and lovely man - he has differing opinions to Dr Rossignol in the US which we'll address when we need to. We have to wait 3 months for the CFD results as it's part of a charity study but they're vital so worth the wait. 

We left his house and finally felt the knot in our stomachs subside. We stopped off at a supermarket on the way home and bought ourselves a bottle of wine to celebrate the fact that we made it and the boys had been brilliant. 

Coming back to our little house was just perfect - it had been a long tiring day and we were both emotionally exhausted. The pent up anxiety over whether the boys would cope with meeting Dr R, the blood tests, whether we would find his house, if he was professional, if we would have any issues with all the time in the car (another 4 hours after 6 hours the day before). We didn't have much down time but the time we did have was well spent!

Matthews fire pit outside! (even in the pouring rain he decided that the Bear Grylls in him had to light it).

I lit the fireplace inside..much to the boys amazement!

 Having these blood tests means we can finally start to see what's going on inside our little guys bodies and start to try and figure out a plan. My heart knows that despite every effort, we are starting our biomedical journey a lot later than some and as we keep being told...early intervention is everything. But, we won't stop now that we're on it and I also know that we have been up against the odds with our guys and short of having complete nervous breakdowns we can't do any more than we're already doing. 

 Although Belgium was a stressful and emotionally draining trip - we felt like we had achieved something enormous. We also enjoyed our first family trip away! It was magical to be away just the four of us and we are so excited to do it again. I knew Matthews business would come in handy one day! Roll on the Snaptrips!  After all...the boys behaved so well in the car - why wouldn't we do more car journeys?!


No comments:

Post a Comment