The story of Rebecca
Easton was born at thirty-six weeks gestation on January 6, 2017. He was almost immediately taken to the NICU for something called PPHN (Persistent Pulmomary Hypertension), Easton was intubated for twelve days on a high-frequency ventilator, then C-PAP and oxygen until he was twenty-five days old. We were able to bring him home on day thirty-one. About two weeks after we brought Easton home, we rushed him to our local children’s hospital for what we came to find out was aspiration pneumonia. He was put on thickened feeds through his bottle and we thought all would be okay. Until, this noisy breathing and breathing concerns persisted, among other things. We saw ENT, Pulmonology, Cardiology, Genetics, GI, Neurology, Plastics, General Surgery, Orthopedics and a Sleep Specialist. Everyone knew there was probably a bigger picture with his symptom list being a mile long but nobody could really fit everything together. Easton had tests, procedures, bronchoscopy’s, sleep studies, etc. Some of which showed abnormalities and some that were no help. We pushed for answers. I got nasty with doctors at time who did not take us seriously and I demanded people make Easton a priority. It wasn’t until Easton was seen by his Orthopedic doctor to be casted, as he has a condition called Metatarsus Adductus, that really raised eyebrows. We questioned Easton’s spine months prior, his MRI showed some abnormalities but it was not anything that we were really talked too about. However, his Orthopedic doctor ordered an x-ray and after showing it to a spine specialist- we heard the word, Mucopolysaccharidoses for the first time. I immediately went home and did what they tell you not to do, I researched. I questioned some things and thought they fit but then I saw the words: TERMINAL, LIFE-LIMITING. I automatically turned away from this and thought, there was no way. Not my family and not my son. A few weeks later after some other genetic tests came back and were normal, we decided to do the simple urine test for MPS. I remember bringing the urine to the lab and mostly shrugging it off. It was a busy next few weeks with appointments and then a hospitalization for some scopes and a pH probe. My son had also gotten into a program called the Declan Donoghue Program, this is a program for all specialists to come together to try to find a diagnosis for medically complex children. The next morning after discharge, November 8th 2017, I received a phone call from my son’s Neurology office asking us to come in that afternoon for results. I knew with prior medical experience and almost common sense that this was not good. My husband was hours away and I called my mother who met me at the hospital. 12:00 pm, that was his appointment time and that was the time our lives changed forever. That was the time that our biggest fears came true. MPS, Mucopolysaccharidoses, Probably Hurler or Hunter Syndrome. I busted into tears. Not my baby, I could NOT lose my child. NO cure. Treatment, yes. But even then, this treatment will not reach his brain which in return will not help with neurological decline. I pretty much went through all the stages of loss within 24-48 hours, but the crazy thing was, I had not lost my son yet. He was right in front of me. This diagnosis did not CHANGE who my son was, it was just another obstacle for us to face. The next month or so was a blur. We received confirmation of Hunter Syndrome. Hunter Syndrome or MPS 2 is a lysosomal storage disease/metabolic disorder. It is caused by lacking or little enzyme activity in a specific enzyme called iduronate sulfatase. Because these boys (typically only seen in boys) lack enough of this enzyme, they cannot break down certain complex molecules, which then build up in harmful amounts. Some signs and symptoms include but are not limited to: coarse facial features, bone abnormalities, distended abdomen, diarrhea, delayed development, hydrocephalus, umbilical/inguinal hernia, sleep apnea, airway abnormalities, hearing loss, frequent infections, heart problems, and enlarged liver/spleen. This disease affects every organ in the body and heart failure and respiratory problems are typically the leading causes of death. The life span is only 10-15 years old. These boys almost end up in a vegetative state and mock symptoms of Dementia with the brain involvement. We followed up with a well-known Metabolic Specialist who then crushed me even more. “Your son has a majority of symptoms of MPS but not typically this early. We should test for MORE genetic disorders just to be safe.” I did not know how to handle this news because both views are bad. 1. Easton could have yet another genetic disease to have to face and 2. If it was just from Hunter Syndrome, he was probably severe. Easton went into the hospital a little over a month after diagnosis for severe aspiration and dehydration which resulted in him getting an ng tube. We had been dealing with many feeding problems which is why Easton follows with Speech and OT, along with PT. We went home with an ng tube for a week until we came back the next week to place Easton’s port-a-cath for his weekly enzyme treatments and to place a g tube since he was aspiration risk. We have started weekly enzyme treatments, added a few specialists to Easton’s care team and have a sick plan/summary chart in place through his Pediatric Enhanced Care Program. We are facing our “new normal” as many other MPS 2 moms will say but we need a cure. All of our boys need a cure. We need to spread awareness for this awful disease. I have started getting involved with a non-profit organization called Project Alive who is trying to fund what researchers believe is a one-time injection cure. We all want more time with our babies. 1 in 150,000. We as a community need to come together to save lives.