22/05/2023
Last week was MPS awareness week and a number of valued customers and friends have asked to know more about our beautiful son Freddie's terminal illness.
Just over a year ago we had never heard of MPS - Sanfilippo Syndrome until one phone call changed our lives instantaneously. Our eldest son Freddie was diagnosed just before his 2nd birthday with this cruel terminal life limiting illness know as childhood dementia. He is the strongest, bravest most loving little boy to ever grace this planet and we will never stop fighting for a cure to be found for our precious little boy.
We ask if everyone could share what MPS is in a conversation, together we gain more awareness, more earlier diagnosis and we are one step closer to the cure for our beautiful Freddie.
It feels right to share something that a fellow MPS parent has written about this cruel terminal disease, it's a long read but with more awareness comes more hope for the cure we hope and pray for.
This is Sanfillipo syndrome.
Hello,
My name is Mucopolysaccharidosis III (MPS III) also called Sanfilippo (pronounced San-fa-lee-po) Syndrome named after Dr. Sylvester Sanfilippo, who discovered me in 1963. I am an awful childhood genetic disease. I affect about 1 in 70,000 little children. I cause their bodies not to be able to produce a enzyme that is needed to break down dead tissue inside of their little defenseless bodies. Since the waste cannot be broken down, I store the waste in other places that it is not supposed to be. I store it in the brain, central nervous system, bones, joints, and in vital organs within the little one's body. So now that I have this young innocent child at my mercy, let me tell you what I am going to put him/her and their family through for the next 10 to 15 years. That’s right 10-15 years is about all I am going to let this poor child live for. Then to make it even worse there is no treatment or cure to get rid of me.
Let’s start this out easy. Within in the first two or three years of his/her young life the child will have several developmental delays. This includes his/her ability to walk, talk, and feeding himself. After he/she does learn to walk he/she will still remain unsteady on his feet. This is because I have already began affecting his joints. He/she will have several ear infections resulting in ear tubes. Then he/she will lose some or all of his hearing. Thanks to me he/she will never be able to enjoy hearing things like birds singing and crickets chirping without using hearing aids. I will sit back and laugh while the parents scurry around to all the different specialists trying to find out what's wrong. The parents’ schedule will soon fill up with appointments from specialist to therapy visits. I will let them enjoy their time of semi-normalcy for another 2 or 3 years before I really start getting nasty.
By this time the parents usually know what is going on. They see him/her constantly chewing on things and starting to have behavior problems. That is from where I am storing the waste in his/her brain and slowly deterioting it more and more each day. He/she will start to become more aggressive, hyper, and harder to control. He/she will have many sleepless nights. His/her behavior is much like that of an Autistic child. It will be harder for him/her to walk without constantly falling down. He/she will become more resillent to pain and have thicker skin. So you will have no idea of how bad he/she is actually hurt when he falls because he/she won’t cry like a normal child would. I will start to change his/her outward appearance. His/her hair will become more coarse and his/her eyebrows thicker. His/her jaw will widen and his/her teeth will gap apart. All the complements of how cute and handsome he/she is will soon change to stares, gawks, or people looking away because they won’t know how to take his/her appearance.
Now to change things up. I will take his/her ability to walk from him/her because of all the waste I stored in his joints. I will see that he/she stays confined to a wheelchair. At this point he/she will now be in a vegetative state. He/she will no longer be able to use the toilet or feed himself/herself. Most of the children that I affect have to get a feeding tube put in. I will no longer let him/her communicate with anyone. You will look into his/her beautiful blue eyes only to see a loving child trapped inside of his/her very own body. I am now going to make it really hard on the family. I am also going to cause this child to have frequent and violent seizures. This will come along with the complications that I have stored up in his/her heart and immune system.
The insurance companies will be reluctant on covering his/her medical needs and equipment because I am such a rare disease. The parents will have to care for this child full time. I will mentally, physically, and financially drain the family. After all of the torment and anguish that I have caused I will take the LIFE of this child as I have so many in the past.
