My daughter sufferers from Mucolipidosis and to our knowledge there are only 5 other surviving sufferers in Australia and approx 68 world wide. This is a very cruel condition that affects all the muscles, tissues, bones and organs in the body.
As I sit here reflecting on what a rare disease is and what it does, how it rips families apart, robs children of a future of their dreams, takes them way too soon. Just last night a beautiful little boy ^^Jake^^ passed away, leaving not only his family but the whole ML (Mucolipidosis) community heart broken. You see each time one of our ML kiddos passes they take a part of our heart with them. There are other ML kiddos whom are very ill at the moment Mikey, Megan and Katelyn recovering from major surgery and I am sure others I am not aware of. These conditions are so cruel.
Today Alli had her second Pamidronate infusion to try to help control the pain, yes she has an intrathecal pain pump insitu that delivers a high dosage of Hydromorphone constantly, but that isnt enough, she also needs to take many other medications to try to keep the pain at a bearable level (not that it is always under control), she also needs to have infusions that last for 2-3 hours every three months at the hospital that are delivered through a portacath that is insitu. This infusion leaves her in terrible pain in her joints with headaches and flu like symptoms, her eyes go blurry for days, yet ironically this is to help control the pain. As well Alli has massage therapy, hydrotherapy and relaxation therapy and takes a myriad of vitamins and herbal medications. This horrid condition affects every tissue, muscle, organ, joint and bone in their bodies. But rarely do these kids complain. They always appear happy thinking of others, so caring and so loving.
As a parent it is just heart breaking knowing that there is no way in my life time that they will find a cure for these horrid conditions. I often wonder why these kids and indeed their families have to suffer so much. It truly doesnt seem fair. Please on Saturday for Rare disease day wear your jeans and or purple for Megan, Katelyn, Alli and all the kids who suffer, and those like dear little ^^Jake^^ and the many angels who have lost the battle, from these cruel diseases that are so rare there will never be any funding for research. These kids deserve a chance. Their families need Hope. It is so hard as a parent having to watch the decline of our kiddos and see them suffering yet not being able to do anything to take it away.
So please I apologise if I dont seem to understand your stubbed toe or your sore hand, living with these amazing kids teaches us how they can be strong and couragues yet suffer so much. Please take a few minutes on Rare disease day to think of these amazing kiddos and to help us spread awareness. You see without awareness there can never be a cure. We need to get as many people to hear about Mucolipidosis and its destruction as we can. Thanking you in anticipation xx