Case was born on March 12, 2007, a robust 10 pound, 1 ounce baby boy. After several hours, he was diagnosed with PPHN, a dangerous lung condition that had brought his oxygen level to 50%. He was on forced ventilation for several days and in the NICU for a week and was considered totally recovered – a huge blessing.
He continued to grow and laugh, but was always plagued with “minor” things, like many colds and ear infections, choking episodes, loud breathing, interrupted sleep, pectus excavatum (sunken chest), and after he started walking, severe “pigeon toes”, and falling a lot. He had a swallow study, a head CT, and a sleep study. He had his adenoids removed and tubes put in his ears to address minor hearing impairment and the ear infections. However, the “minor” problems remained.
Having a nurse for a grandma will be one of the huge blessings of his life. When his grandma saw an episode of Mystery Diagnosis about a rare condition in the family of lysosomal storage disoders (enzyme deficiencies), his symptoms no longer looked like a coincidence. After seeing his pediatrician and listing all of his symptoms, we were sent to a geneticist at Vanderbilt who ordered blood tests, urine tests, and x-rays. They confirmed that Case had Hunter Syndrome (also called MPS II).
Above is a video we made for the school system Case was entering the year after diagnosis (early 2010). It explains his history and prognosis and our challenge to them to help us maintain his abilities as long as possible in hopes that he could enter the intrathecal clinical trial. He ended up qualifying for the trial in late 2010.
Children with MPS II are missing an enzyme called iduronate sulfatase which is essential in cutting up the certain molecules (mucopolysaccharides or GAG) called dermatan and heparan sulphate. The incomplete broken down mucopolysaccharides remain stored in cells in the body causing progressive damage. Hunter Syndrome is a rare condition affecting between 1 in 100,000 to 1 in 150,000 male births, although it is estimated that MPS conditions collectively affect 1 in 25,000 births in the United States.
Hunter Syndrome affects a child both physically and mentally, although it’s effects are different in every child. Generally, cognitive development slows between ages 2 and 4 and then regresses after that. Physical effects from Hunter Syndrome begin at birth and include damage to organs, joints, breathing difficulties, etc. If you know Case, you know that he used to fall a lot, has difficulty with his joints, has unexplained diarrhea, chokes easily, breathes loudly, etc. – all of these are part of his condition. Currently, children can receive weekly enzyme replacement therapy (Elaprase) that helps break up the GAG and can address some of these physical effects. Case has been receiving Elaprase since a few months after his diagnosis and we have seen a huge improvement in some of the physical symptoms like his flexibility, walking ability, lung capacity, and speech.
In late 2010, Case enrolled in a clinical trial where he received a port into the spinal fluid to receive a similar form of the drug into his spinal fluid and brain to hopefully stop the brain decline. His first dose was in January 2011 and we saw changes very quickly! We returned to UNC every month until mid-2014 when Case began receiving doses at our home hospital, Vanderbilt Children’s Hospital. These spinal (or intrathecal, as they are technically called) infusions are in addition to Case’s current weekly infusions, which I now do myself at home. We have seen amazing stability and improvements in Case, but we are disheartened that the process took over five years to move from what was a 6-month Phase I/II trial to a Phase II/III trial that could enroll more boys.
In addition, these infusions, which could be impeded by any health hiccup, are required every month to maintain Case’s stability. And many, many other boys with Hunter Syndrome cannot receive this medication because of health issues. It is a temporary fix.
This journey has involved changes and challenges both for Case and the rest of our family. We ask for your consistent prayers. We have already seen many miracles since we began dealing with this including the miracle of an improvement in Case’s cognition, something that was entirely unavailable at the start of this fight.
You can read more about the first two years of Case’s fight (before this blog) at his CaringBridge page (no longer updated).
[flagallery gid=1 name=”Gallery”]
A visual depiction of the statements on the SavingCase T-shirts
Case singing Jesus Loves Me
Case singing You Are My Sunshine