Jonel & Anthony's Hunter's Journey

Hi! This is Cristina from Orlando, Fl. and I am a single Mom of two beautiful rare boys named Jonel and Anthony Bruno. Both of my sons have MpsII Hunter's Syndrome.
Hunter syndrome affects (roughly) 2,000 families all over the world. Here in Florida there are only two known cases and we are one of those families.
Currently, our boys are given an infusion every week (somewhat like dialysis) which helps slow down the progression of the syndrome. Our boys are missing a teeny tiny enzyme; they are given a man made version of this enzyme which cannot, for now, pass the blood brain barrier; meaning the deteriorating will continue at the same rate (as it would without the drug) in the brain, so our boys will lose skills they are already mastering in life.
Jonel is 4 years old and is the big brother of Anthony who is 3 years old. They are full of fun, laughter and love. They love playing basketball and watching Nick Jr. They are best friends! Sadly they still don't know they have this condition.
It is all dissolving right before my eyes and there is nothing I can do, for there is no cure for my boys and no cure for my family.
I believe my sons are "luckier" and have a milder version of hunter syndrome, others are participating in a clinical trial for a possible cure, while others are just like us; my boys were born to early to even be considered for a clinical trial.
I write about my family and how I am learning to live, love and laugh again, ever since we were forced into this world of 'special needs' since April of 2016.
My sons bring me so much joy and laughter, but I would be lying to myself and others who live this life.
Hunter syndrome isn't an easy thing to have in our family, from the weekly Enzyme Replacement Treatments, to the 'at home' therapies such as, speech, occupational, behavioral and physical therapies and all the other team of Doctor's such as, Genetics, Neaurologist, Cardiologist, Pulmonologist, Pediatrician and all the others we see.
It takes so much time and patience but it teaches us to live and appreciate the time we are all given. This condition teaches us to be better, do better, try harder and live better by simply enjoying all those little things in life we take for granted; laughter, noise, first milestones, love..
I have hope for my sons because there is research and clinical trials currently towards a cure. Unfortunately the drug they are given weekly for 3-5 hours each week does not stop this terminal disease. It helps their little bodies but not their brain. The trials we need for our boys are on going, they are trying to cross the blood brain barrier using the same E.R.T drug (Elaprase) in hopes that this will slow down the regression in the brain which as of now it is still unsuccessful and they are to young to be considered...
What is Hunter's Syndrome?
Hunter Syndrome is a rare genetic syndrome. It mainly affects boys; although there are two known cases of girls in the world. There are varying degrees of Hunter's; mild and severe. People living with Hunter syndrome are missing an enzyme that is damaged or partially there. That missing enzyme is responsible for helping break down certain complex molecules (sugar). When that enzyme is missing or damaged the molecules build up in harmful amounts eventually causing permanent, progressive damage; it affects appearance, mental development, organ function and physical abilities..
Basically every single part of the body and mind becomes damaged over time. It is progressive, terminal/ life limiting conditions, for there is no cure!
There is treatment which slows down the progression but it doesn't reach their brain.
We pray that one day we can make it in the clinical trial and visit with a very well known MPS Doctor Joseph Muenzer who is out in Duke University North Carolina.
Unfortunately, I do not have the finances available to meet this important doctor or to take them to see other doctors farther out.
I even wish that I were able to take them to Universal Studios which I know they would love since all their favorite characters are there!.. This is why I started a GoFundMe account , in hopes of raising money for future treatments that our insurance might not cover and plans to keep my children smiling and possibly be able to take them to Universal Studios :)
So for now I will keep Praying for a Miracle to happen with a Cure for Hunter's Syndrome and keep trying to bring Awareness to this horrible disease...
Thank you for reading our story and feel free to share.
Sincerely,
the Bruno Family
For more information on our sad reality; go to raredisease.org or Google MUCOPOLYSACCHARIDOSIS 2 and click Images.
Please Donate to Our Campaing!! Do it for my son's :)