Wow, where do I begin? Talk about information overload.
Saturday 6th July was the 2nd Annual ARPKD Family Information Day, organised by the PKD Charity UK and Birmingham Children's Hospital. I couldn't go last year due to having travelled to the hospital already earlier in the week it was held, and Charlie is not a good traveller. However, he did surprise me this time. Not one complaint of feeling sick or anything. Maybe he's growing out of it. Anyway, I digress. The point of this piece is to hopefully shed some light and share some information on what ARPKD is. In short, it's a rare genetic kidney disorder that causes cysts in the kidneys of an unborn baby, and can be life threatening. It doesn't end there. You can find more information on ARPKD on this site and also here.
The complexity of this disease is often way above my head, and I feel like I'm swimming an ocean I'll never cross at times. Yet, it's strange, we are very fortunate. While I find myself today, just two days post conference, struggling with the hand Charlie was dealt, I can honestly say, it really could be much worse. He's happy, he's reasonably healthy, so why am I finding it hard today? Could it be the fact that he may not even have ARPKD, but something else? Could it be that I, again, find myself terrified of losing my child because of something I might do wrong in the future? The talks were absolutely fascinating, and I can't wait to share the links to the information as soon as it's available on the PKD Charity website, but the talks also raised far more questions for myself than answers in many ways.
Having attended the Ciliopathy Alliance Conference back in June (find them here), it began to dawn on me that my kids have traits and possibly symptoms of other ciliopathic disorders. I wrote down some ideas and suggestions when there, so I could ask our doctor when we saw them next. On Saturday, I found myself doing the exact same thing. I have recently been in touch with a geneticist in Germany after being introduced to him and he was there at the info day. I knew the minute he started talking about misdiagnosis, we were talking about Charlie. Indirectly, but to me, it was as if it was Charlie. I am in the process of digging out every hospital paper I have available, and will be sending them to the geneticist asap. Another geneticist approached me at the conference and said I sounded like I needed genetic counselling. How can that even be possible when we have already had it and had written confirmation that Charlie carries the PKDH1 gene. Well, there's where it gets tricky. The vast amount of mutations makes it very difficult to pin down and diagnose. The test is also HUGELY expensive, so most health care givers often opt for the cheaper and more common form of test. This is what we get. Given Charlie's latest set of health scares, I feel it's vitally important to get the right diagnosis. Just because the treatment wouldn't differ, doesn't make it right. What if there are other things amiss that aren't being tended to because I don't know the difference. ARPKD is what I know. It's what I've spent the last 11 and a half years grappling with, and all of a sudden, everything I know could be wrong. I founded a group on Facebook five years ago for the sake of my son and the wish to meet others whose lives are affected by ARPKD, however indirectly. How do I begin to get my head round this?
With all that said, I can't believe how lucky I am to be blessed with such beautiful boys. Charlie does have his problems, but he's such a wonderful kid, and we are both so fortunate to have Harry , Charlie's twin brother, to look out for us both and we, in turn, look out for him. Today might be a frustrating day, but I'll fight for my son's health with every breath I take. Any fears I have will be outweighed by the need to protect him and his brother.
ARPKD, or whatever you are, we aren't going down without a fight.
We spoke about prenatal diagnosis and the effects of steroids on the baby's body if they are given to strengthen the lungs. Whilst the steroids can do an amazing job of strengthening the lungs (I had for steroid injections, but purely because I went into premature labour), they can also stop the kidneys from forming properly. Post 34 weeks, the kidneys are fully formed, and so that worry is eliminated, but what if you're newly diagnosed and go into premature labour from 24 weeks onwards? Would you want to take the chance of maybe taking the steroids and preventing the kidneys from developing properly. Here's the thing, I still swear they saved my son's life. Steroid shots are only useful for two weeks once they've been given. So, if you go into prem labour and it's stopped, but have been given steroids, would you want another? I wasn't given a choice, and while I'm glad I wasn't, I know others wouldn't be so willing. In America, you are in charge - more or less - of the care you receive. You have most of the control in your hands, but here in the UK, we have to fight tooth and nail for what we want. Had my son been born here eleven or so years ago, I don't believe he would have survived. As it was, he was born in Mallorca, I didn't have a clue what they were doing to me, all I wanted was for them to save my babies, and I didn't question a thing. I cannot give advice out, but I can tell you my experience. Steroids have contraindications, but so does paracetamol. Would I have the steroids again if I could do it all over again? Yes. Maybe Charlie being prem and the kidneys not growing to fully formed was a blessing in disguise. Until we are able to properly test this notion, we may never know. Whatever you decide, good luck. There are two ARPKD forums on Facebook. Find them here and here.