On December 26, 2014, our precious baby boy Aiden David Marinoff made his grand entrance into the world nearly 3 weeks early. He has been a firecracker since day one, ready to take the world by storm. We have no doubt he will. 

Shortly after birth, Aiden began experiencing numerous medical issues which required the assistance of Gastroenterologists, ENT's, Nutritionists, Orthopedic Surgeons, an Endocrinologist, a Pulmonologist, a Neurologist, Audiologists and Metabolism Specialists. 

He was constantly sick, plagued by reoccurring upper respiratory infections and ear infections. At 12 months he had ear tubes placed and his adenoids removed. He had feeding trouble and required prescription Elecare formula as this was all he could tolerate. He had severe GERD which required a combination of proton pump inhibitor medications. He has a spinal deformity called Kyphosis which we later learned was not congenital, but caused by something far more rare. He was late hitting his gross motor milestones. He did not sit up unassisted until just shy of 9 months and did not stand or walk unassisted until 17 months. Words and jargon that he had early on around 9 months became infrequent and inconsistent after 12 months. His belly became very distended over time. 

On June 29, 2016, we took Aiden to see a Neurologist at the Children's Hospital of Philadelphia for concerns with gross motor delays, speech regression and a host of medical conditions. Within 10 minutes of reviewing Aiden's medical history and meeting him, our older son Ethan and my wife and I, the doctor said she felt his kyphosis was the cause of a rare disease process called MPS, not congenital as was previously told to us. She also said Aiden did not look like us or his brother. We didn't understand. Aiden has Marielle's dark features and eyes. She said Aiden had an enlarged head, a flat bridge nose with flared nostrils, a large tongue, an enlarged liver and spleen that was causing his belly to protrude and become distended, thick skin, short stature and stiff joints. She ordered many tests including blood work, urine tests, an MRI, an ekg, an eeg and an x-ray of his c-spine. We left that appointment in utter disbelief. We were worried sick. This couldn't be real, could it? 

On August 16, 2016 my wife Marielle and I received the most heart wrenching news any parent can ever hear, "Your son Aiden has Hunter Syndrome, also known as mucopolysaccharidosis type 2 or MPS 2, a terminal disease." For several weeks we had known about this probable diagnosis, but since we were waiting for various test results to come in, we held out some hope that the suspicions were wrong. They were not. We thought having had some time to cry, yell, question why him or why us and process the suspected diagnosis would make it easier to hear the confirmation. Let me tell you something, NOTHING softens the blow of hearing your child has an illness you can not fix! With the exception of sharing our kids photos and videos on Facebook from time to time, we are pretty private people. We had never discussed family obstacles on social media before.  But we realized something, not sharing this news publicly is doing Aiden and other children fighting this uphill battle a great disservice. Up until June 29th, we were blissfully unaware like most of you of this heinous disease. With awareness, comes funding for research and hopefully a cure. We encourage you to share our story and follow Aiden's journey as we plan to write often with updates. Of note to New Jersey parents: this disease is NOT screened for on the newborn screening test. 

Aiden is a fighter and a love bug. We will do anything in our power to make sure he receives the best care, knows nothing but love and has the happiest life possible. 

We have supersize goals for our little superhero! We hope to raise a large sum of money to give directly to doctors and hospitals at the forefront of gene therapy research. This is our hope for a cure! We are overwhelmed by the outpouring of love and support we have received from family, friends and even those we have never met, but had heard about Aiden's journey. We thank you from the bottom of our hearts!  

About the disease: Hunter syndrome is a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme. Because the body doesn't have enough of the enzyme to break down certain complex sugar molecules, the molecules build up in harmful amounts. In Hunter syndrome, the buildup of massive amounts of these harmful substances eventually causes permanent, progressive damage affecting appearance, mental development, organ function and physical abilities. It mainly occurs in boys, class="widimg" although very rarely it has been observed in girls. There's no cure for Hunter syndrome. Treatment of Hunter syndrome involves management of symptoms and complications. 

Signs and symptoms may include: An enlarged head (macrocephaly), thickening of the lips, a broad nose and flared nostrils, protruding tongue, deep, hoarse voice, abnormal bone size or shape and other skeletal irregularities, a distended abdomen as a result of enlarged internal organs, diarrhea, white skin growths that resemble pebbles, joint stiffness, aggressive behavior, stunted growth, reoccurring ear and respiratory infections and delayed development, such as late walking or talking. 

For some babies with MPS II, detecting the condition early and beginning proper treatment may help prevent or delay some of the severe health outcomes associated with the condition. This is why newborn screening for MPS II is so important. Though treatment may improve the length and quality of life for children with MPS II, those affected with the severe form often die before reaching their mid-teens from heart disease or airway obstruction.

Approximately 1 in 100,000 to 1 in 170,000 males are affected with Hunter's syndrome.