Just Yesterday…November 12, 2015….2 days after Daddy’s Marine Corps. Birthday.
As a United States Marine Corps Veteran he will always share this with you but you will only share this with him in spirit….
It seems like just yesterday I held you in my arms. You were helpless, hopeful, happy…perfect. You were so tiny and so pure. You knew no pain and you had no doubts. There was no lifespan expectancy other than ours: you’re only as old as you feel. We had dreams for you that were limitless and faith that could move mountains: well with the help of the good Lord almighty.
We thought of all the things you could do…to really live life to the fullest and truly be alive.
In reality today we struggle to still have great faith of a mustard seed but your dreams? Well they are extremely limited. And the number one dream is to stay alive. In fact what is really happening is tomorrow? We will take you to your 33rd Enzyme Replacement Therapy infusion where we hold you down, yet again, to access your ports while you cry and scream “mommy why?” (which by the way is even more heart-wrenching from children who are considered “nonverbal”). We say “Why? Because you need your medicine. Because we love you. You are doing a great job! You are our hero!” Yet I am not sure it makes any of us feel even the slightest bit better: even though you say “Yaaaaay” as you so positively always do during and after accessing and de-accessing your ports.
Just last week we continued in the fight for your body by taking that weekly dreaded trip to Miami which we will do again tomorrow, (about 250 miles roundtrip) in our faithful car of more than 211,000 miles that feels like a sardine can. We do this in order to get your million dollar medicine (by the way we say a prayer every time we put the key in the ignition). But just today we flew back from UNC Chapel Hill to attempt to get you both into a clinical trial for a drug to help save your brain.
You see, the doctors tell us that the current ERT helps the immediate life-threatening issues such as airway obstruction and heart issues due to too much build-up, but the lifesaving drug does not cross the blood-brain-barrier to save your brains which are slowly regressing (some may call the blood-brain-barrier the body’s “final frontier”….we always thought that was space….just goes to show the medical world we now live in!)
There are two criteria you need to meet in order to qualify for this IT (Intrathecal Trial) Study: you must take a neurodevelopmental cognitive test and score between a 55 and 85 (the DAS for Cadence and the Bailey for Asher) AND you must have a lumbar puncture to measure your intracranial pressure which has to be below a 30. Once you have met the criteria and qualify you will then enter the study to receive the drug (2 and younger go into the substudy and all substudy participants receive drug while 3 and older are randomized…some get drug some go into the control group). The most cumbersome part of this study is not just that the drug is still considered experimental but that the intrathecal port is still investigational as well. The majority of problems that are occurring have to do with the port itself. This means more surgeries for all the patients in order to get the port but also additional surgeries for others to fix and maintain them.
My dear sweet baby Asher has taken the neurodevelopmental test and has had his lumbar puncture. We are thankful for this and with a qualifying score on the Bailey and a intracranial pressure of 28, he will be in the substudy and will receive this much needed drug. He has made it into the trial! As happy as we are about this it is bittersweet knowing this is a very long road ahead. Our gentle giant Cadence would not cooperate the first time he tested. We took him back for testing and he just eeked by with both his cognitive test and his lumbar puncture. The pressure is supposed to be 30 or below to qualify…his was 29.9! We are so grateful to the Lord. By the way, 50% of our Hunter Syndrome boys do not qualify due to lack of cooperation or too low of a score on a test that is mainly for “typical” children (thank you FDA). This is yet just one more reason we need this drug approved as well as gene therapy to be conquered!
The good news? We are so blessed to have both of our boys now in this trial. The bad news? Cadence has been randomized and even though two thirds of the patients in the study receive drug, one third are in the control: Cadence ended up in the control group. We are saddened but so grateful he will receive the drug after 12 months! Asher will return to UNC in a week or two for port implantation, come home and then return a few weeks later for dosing (which will then occur once a month for 12 months). Cadence will return for evaluations every 3 months for 1 year and then he can get the drug.
Even though Shire, the clinical trial sponsor, pays for the trip expenses, this means a lot of missed work and additional expenses. Our finances are in a rut, our car is on its last leg and our children are dying right before our eyes. We are trying to figure out how to get a van, turn our finances and lives around and still make it through the Christmas season while traveling back and forth to UNC as well as additional specialist visits. There are many emotions that we endure as parents in these situations. We press on towards the prize knowing this world is not our home and we surrender our yesterdays to count it all joy for today. Still, there are many questions we ask ourselves (especially as you are sobbing signing 30 page consent forms to enter your babies into a clinical trial)…Am I doing the right thing? Can I do more? Better? So what do we need? Guidance. Wisdom. Courage. Serenity. But most of all…Prayer.