On January 26th of this year our son “Cadence” went to St. Mary’s Hospital for what we thought would just be a routine sedated MRI of the brain and an ABR hearing test in order to cross some things off the list. A year old CT of the head, that had suggested he had something called a mega cisterna magna, had been brought to my attention in November of 2014; the CT was done in December of 2013 and no one told me of these findings. Coupled with his speech delay, falling a lot and an overall sense of mommy intuition, we found it necessary to look into this further. When the ABR suggested our son is almost 100% deaf I was heartbroken thinking that was the worst news we could have received. However, I was also elated thinking this may be the cause of his falling a lot and possible developmental regression and delay. I was hopeful these results were the reason something was wrong with his brain and the issue was only temporary. To my surprise on the evening of January 27th I received a phone call I will never forget. Unfortunately the MRI results were not good. They suggested that my son had a rare genetic MPS disorder but they couldn’t be certain and were sending me to Miami to see geneticists right away. Thus began my new day-time job of driving my son to doctor after doctor and test after test. Since January 26th we have been to a doctor, had a test or have received devastating results virtually everyday until as of late. My son was admitted to Holtz Children’s Hospital in Miami for dangerously low blood platelets on February 11th. In a way this was a short respite for daily visits: all of his specialist visits were expedited and he received almost all of the rest of the care he needed while we were there. Along with the dual purpose care, the blood-work to determine his diagnosis was expedited. Knowing there was a chance our youngest could be affected as well we did both tests simultaneously.
On Friday February 13th we received news not one but both of our sons, Michael “Cadence” (age 3) and Asher William (soon to be 2 on June 27th), would have a different future with different dreams: both of our sons were diagnosed with MPSII Hunter’s Syndrome, an incurable rare genetic disorder. Our lives have been forever changed.
Although we continue to trust the Lord with all of our hearts leaning not on our own understanding, our whole family has been devastated. We have spent an astronomical amount of money in gas alone over the past 6 months. I am unable to work and Mike is working hard establishing himself at his new job. We are trying to sell our house in Tennessee while attempting to find some way of having a new life here: with a new “normal” and new “dreams.” The emotional and financial stress this has put on our family cannot be put into words. In fact sitting here trying to even articulate these events has brought me to tears several times.
I appreciate you taking the time to read only a portion of our story. We venture forward with debts, school loans, a car I am extremely thankful for but that is on it’s last leg and I fear it will not make it back and forth too many times to Miami (202,000 miles on our 2004 VW Jetta with three kids in the back!), two precious boys who will now have a new normal with lots of therapies and supplemental doctor visits and an amazing 6 year old daughter (Elenia) whose life has been turned upside down. She has an incredible heart, is an amazing big sister and is gifted beyond measure. Our children deserve so much more.
Both boys (our little Ironmen who will forever be my superheros) have had infusaports surgically placed in their chests in order to receive treatments.
Although this is an incurable syndrome, we are fortunate that there is some treatment. Both boys receive weekly enzyme replacement treatments and will continue to do so for the rest of their lives. Currently we travel about 250 miles roundtrip every Wednesday for the boys to get their infusions. We are hopeful these treatments will help to slow down the progression but are uncertain of what the future holds in advancements in the medical field for a cure. There currently are a few clinical trials we are looking into enrolling the boys in that are investigating the treatment passing the blood brain barrier so the boys will not be as affected cognitively. Right now we cannot say how far along the boys’ progression is in regards to their cognition. This syndrome is so rare only 337 patients are on Elaprase ERT in the United States and there are only, statistically speaking, 500 cases of Hunter’s in the U.S. (about 2,000 worldwide including those who are probably undiagnosed). This syndrome is progressive affecting the entire body and longevity: we count every day as a blessing and an answer to prayer.
It is very humbling as a helper to be on the end of asking for the help. I am not sure this is something I will ever get used to and hope I do not have to. I hope that one day I may be able to assist many others in any way that I can. I believe we all have a purpose and a story to tell and it is to the Lord we give all the glory no matter what may come.
Lori Grace and Mike Adams