#16

24 Aug #16

Lachy is still not completely himself yet but has many more good days than bad. We are relieved to see the return of his beautiful smile and his energy oozing out of him. An interesting story happened when we were in hospital with Lachy having RSV. A dear friend of mine, Lucia Taylor, telephoned me and asked me if Lachy had ever been tested for MCT8. I wasn’t able to answer that question immediately because I don’t know that any one person, including his specialists, can actually know that for sure. Lucia had been reading the Weekend Australian and, in particular, a book review of a book called the Miracle of Love : A Mother’s Story of Grief, Hope and Acceptance. To begin with, Lucia thought this may be a supportive tool for me. (I was really quite emotional in hospital and Lucia had heard my quavering voice a number of times.) However, the more Lucia read, the more she thought that the symptoms and descriptions sounded like Lachy. She then googled the condition, MCT8 and Ondine Sherman (author / mother) on the internet. It turns out there are only 47 cases worldwide of this condition and she discovered even the photographs of the diagnosed patients with this condition looked very similar to Lachy ie the way he holds his mouth etc. So the nurse on duty at the time and I got and googled for ourselves and agreed with Lucia’s comments. 15 minutes later Dr Ryan, (guardian angel disguised as a paediatrician) walked in and I explained the story to him. Dr Ryan looked at the clinical testing that required to be undertaken and immediately telephoned the lab to see if they had enough blood from Lachy’s blood tests a few days before to run these tests. The next day the lab let Dr Ryan know they did and would send to Brisbane for testing. The tests were quite complicated and unique and certainly had not been trialled prior by Dr Ryan. The following week Dr Ryan rang me to advise that the blood test results had come in and they were not consistent with the diagnosis of MCT8. Sorry if I built your hopes up telling that story. If I did, that may give you a little taste of what I was feeling inside. Anyway, even though it was negative, Dr Ryan made the comment that this will quite possibly be the way that we achieve a diagnosis for Lachy. Obviously I, and my loved ones, have a vested interest and time to research more than any specialist that may only see a snapshot of Lachy rarely. Surprisingly, I was not disappointed with the result at all. I am very grateful to Lucia for caring so much about us to follow through on her instincts. You have been a truly wonderful support and I have every intention to somehow pay forward the kindness and genuineness you have shown to us xx. I am also grateful to Dr Ryan who has so many patients and seems to work tirelessly but is such a personal comfort to me because of the excellent and dedicated care he shows Lachy. Dr Ryan didn’t hesitate to run the tests and trusts without question my instincts about Lachy.

Side note – I have sent an email to Ondine Sherman and will keep my fingers crossed for a reply.