(Humming to Sting as I type this)
I really did have to still my heart when I heard the latest news.
So as not to steal the Thomas family’s thunder, please click on the picture to the left and read the latest news.
Then, let me back up. Without discussing some background, it is difficult to understand why this is such HUGE news to us. Crying, kneeling, praying, loss of words news.
One of the common effects of MPS is damage to the heart. It often includes thickened heart valves (because they have accumulated the storage of GAG) and regurgitation or leaky heart valves that do not completely close when the blood is pumped through them. The heart has to work harder to pump the necessary amount of blood through these valves and can eventually become enlarged as a result. Patients with regurgitation are also at increased risk of endocarditis, an infection of the heart valve or lining of the heart. Symptoms may appear over time and can include fatigue, shortness of breath, retention of fluid, abnormal heartbeats, and chest pain caused by reduced blood supply to the heart, and eventually, heart failure. Continued damage may require a heart valve replacement.
As an MPS parent, I know there are many dangers associated with Hunter Syndrome, many different triggers that can try to take the life of my child, but I tend to order them as follows: (1) brain, (2) airway, (3) heart, (4) everything else.
The brain controls the functions of your body. It tells it when to breathe, move, swallow, it tells the heart when and how to beat, it controls switching your throat from the eating to breathing function, and all those other things that are subconscious or conscious to functioning day to day. Because MPS II slowly builds up in the brain, it slowly takes away the brain’s ability to control those things until it can no longer time things up well enough to maintain life. I hate to be so clinical about it, but that is how the doctors explained it to me, and that is how I need to understand it best to try to help my child.
The airway controls the ability to get oxygen to the cells of the body so one can stay alive. Even if the brain can properly tell that airway and lungs how to function, if the airway collapses (which happened frequently to Case as a baby due to laryngolmalacia, a symptom of MPS) and cannot be opened or if something gets stuck in the airway, even something as small as mucous, it cannot take in the needed oxygen.
And finally, the heart. It takes that oxygen and delivers it around the body to maintain all functions. If it is not functioning properly, then it could ultimately fail and not be able to sustain the body.
So those are the day to day functions, but also, as a symptom progresses, a parent must also consider various surgeries to treat the problems such as heart valve replacement, tracheal stents, a tracheostomy, etc., and each of those carries with it the additional risks of surgery and anesthesia to our boys.
Treating the brain. This is the massive task taken on by this clinical trial – stop the brain from declining so that it can continue to maintain bodily functions for a longer life. The improvements Case is having? Just icing on the cake. The main goal (in my mind) is providing him a longer life than say, 12 or 15 years. Longer to enjoy him, love him, and longer time to find the closest resemblance to a cure.
Treating the airway. Since Hunter boys have been on Elaprase, doctors have seen improvement in their airways overall. It is difficult to say whether this improvement is long-term or sustainable since even including the beginning of that clinical trial, patients have only been on the drug for maybe 10 years and those patients already began with damaged airways for the most part. But, it is the best we’ve got and it has allowed Case to have repeated general anesthesia under this trial without any complications.
Treating the heart. Now, this would have been our next big focus if the clinical trial drug continues to prove effective on the brain. With damage to Case’s heart already existing, and without real evidence that Elaprase prevents further damage, we knew that medications, possible valve replacement, or other possibilities might come into play.
What no one expected was that the clinical trial would help this too.
Although the trial drug enters the brain through the spinal fluid, some of it still enters the body after it circulates in the brain spaces. This is clear alone in the physical difference of looking at Case and his body before the trial to now.
But either the ability of the drug to reach places that heretofore had been unreachable by Elaprase or the reformulation of the drug that allowed this is amazing and unexpected.
Implications. To me, the first implications are for the health of our boys with current heart damage. Repair or even maintenance of heart function will significantly add to the quality and length of life for our boys. Now, we’re cautious, because improvement in one child does not necessarily mean it will have the same effect for all, but we’re optimistic. Second, this creates implications for attenuated patients – those patients whose brains may be unaffected by the disease, but who may have significant physical symptoms including heart damage.
One consideration of a drug to prevent cognitive decline is the timeline of figuring out whether a child’s cognitive functions are affected by MPS. So, as in Case’s situation, we had to wait until he lost skills to start the trial. If this drug is effective to prevent or repair heart damage, might it be useful for the very youngest of MPS II babies whether or not they may be cognitively affected?
I admit my head is spinning with the news. Jumping for joy with the Thomas family. Many prayers tonight of thankfulness for miracles that I didn’t, in my small mind and weak faith, contemplate.
Thankfully, God has a much bigger vision than I do.