of a new kind; different from anything seen or known before: a novel disease
Different from anything seen or known before, that statement has been part of what has defined my daughter for most of her 5 1/2 years in this world. As I have written before in previous posts about our diagnostic odyssey to find a diagnosis for Kate’s rare and undiagnosed disease, she was always highly suspected of having mitochondrial disease. In November 2012 this was confirmed through genetic testing. We moved from the roller coaster of not knowing what Kate’s diagnosis was to being the only known case in the world. Now she is one of 11 known cases and though I have known the gene involved in this disease for sometime, we have not known much more about it. We have waited 16 long months for the first medical journal article describing this new disease to be published. On April 4th, 2013 SIFD officially entered the medical lexicon and family of known mitochondrial diseases. You can read the abstract here:
SIFD is an acronym for Sideroblastic Anemia, B Cell Immune Deficiency, Periodic Fevers and Developmental Delay. These are the main symptoms of Kate’s disease, the most homogenous, though there are many more conditions associated with it depending on the child affected. There is a spectrum of SIFD – more severe to less severe – Kate falls somewhere in the middle ground of this spectrum.
The medical description of SIFD and the diagnosis of 11 patients worldwide was the result of an incredible international collaboration. More than a year ago, recognition of a potentially new disease prompted the formation of an international collaborative group of physicians and scientists involved in treating and investigating these cases. Several medical and research facilities from the UK, USA, Canada, France, and Portugal were involved, including: Children’s Hospital of Eastern Ontario (CHEO), Boston Children’s, Royal Manchester Children’s Hospital, University Hospital of Wales, Universite Paris Diderot, Hopital de la Timgone Marseilles, Centro Hospitalar do Porto, and more.
Although the syndrome is considered rare, the “relative ease with which 11 cases have been identified” suggests many other children may be affected and undiagnosed. The diagnosis of this disorder requires intensive specialist investigations from several areas such as hematology and immunology. Similar to Kate, it will like present to many different specialists in many different ways. It will baffle most family doctors and pediatricians, and it will be the physician with a keen eye (and interest) who will suspect an underlying condition. Awareness of SIFD and investigation into its underlying conditions is key to diagnosis for many children and their families, and this paper represents the first significant step in raising awareness. The authors have established a database and are excited about colleagues who may have similar cases contacting them.
The moment of hearing the news about the publication of the SIFD paper itself was ordinary and every day. We had an appointment with Kate’s hematologist and were discussing how Kate had been doing. He mentioned the research going on into her disease and that is was ‘good the article had been published’. I looked at him quizzically – I didn’t know that the paper had been published and I had been waiting for it with much anticipation. Dr.K said it had been published the previous day in the medical journal Blood. He said I could read the abstract online. Of course I wanted more, I wanted to read the entire paper, and asked if he could make me a copy of the article. I wanted to read all about SIFD and absorb every bit of information I could. Let it sink it, then read some more so I could understand it further. I wanted to know this disease inside and out, to recognize it in a dark alley, to try to understand it better, and to figure out my plan of attack.
As I waited after our appointment in the hallway of the Medical Day Unit at CHEO, so many thoughts ran through my mind. This was a moment, it was huge in our lives, it was a NEW DISEASE, it was my child who was offering herself up to a worldwide medical community for scrutiny and investigation in order to not only help herself but others like her. It was the end of an incredible journey and the start of something new and even more daunting – the hope – the glimmer of hope that we might find out something more about this disease. That someone somewhere would have the knowledge and expertise (and funding) to determine a treatment or a cure. That there would be other kids like Kate and that we would learn how this disease and impacted then and might know better what to expect with Kate. That we wouldn’t feel so in the dark about a disease that has had such an incredible impact on Kate’s life and ours.
Where were the fireworks? Where was the cake? The pageantry? The media outlets shouting high and low that NEW DISEASE HAD BEEN DISCOVERED?
Dr.K came down the hallway a few moments later and handed me a 28 page double-sided document. I thanked him and made a casual comment about ‘where was the celebration about this new disease? this is very exciting’. He looked at me and said something like this, ‘having a new disease isn’t really a great thing’.
I understood what he meant – being rare is not a good position to be in – not that the discovery of SIFD isn’t exciting…still.
I stood there. My eyes welled up, not from his comment, but from the shear emotion and impact of the journey we had been on for more than 5 years, summed up into a 50+ page paper and a casual comment from one of Kate’s specialists.
I turned to a nurse who was standing in the hallway. A familiar MDU nurse who knew us casually. I showed her the title of the paper, “This is Kate’s disease. It’s a new disease. This is the first paper ever published about it. It’s very exciting”. She nodded and smiled and I could tell she had patients to get to. Really, what could she say? So I put the paper in my shoulder bag and slowly walked out of the MDU, out of the hospital, across the parking lot and to my car. I shovelled Kate into her seat, trying to protect the paper from getting bent and torn and dirty. And as I got into the car, and sat there a moment – took a moment – the shock wore off and I started to cry. Big heaving sobs, huge tears, snotty nose – you know the full meltdown. It was over as quickly as it started, and I thought I would feel relief after a good cry, but it was only fatigue and a sense of feeling lost. I wanted to recognize this moment and I didn’t know how – I was losing my certainty that a NEW DISEASE was indeed a big moment. I felt sad that everyone seemed jaded about this moment, that it was just another day in science and medicine.
I’ve since shared the news with friends and family to mixed reaction. Those that get it really get it and are excited for us. Others see it as more news about Kate – good to news, but nothing to do cartwheels about Perhaps I have overloaded the airways with Kate’s ups and downs, progress and setbacks so that this moment seems equal in its importance to all others.
What I am slowly realizing is that the moment is mine. I have to celebrate myself and set off my own fireworks. It is special to me, and maybe to the other families of SIFD as well. I have to find the special way to celebrate and make this moment shine. I don’t need to convince others it is special. I need to see it in light of so many moments about Kate.
I will be re-reading the SIFD paper for many days and weeks to come. I’ll flood the social network airways with the news of #SIFD, hoping it is shared to the point of being important to someone else’s child and family.
I want to burn this moment into memory. And then wait for the next achievement.