Something to Hope for

How are you doing? I always respond the same way trying to remind myself that we are home now, Miles is off the feeding tube, he is nursing and growing (over 8 pounds now), and if it weren't for the scar on his chest, a handful of meds and his diagnosis he would be a normal newborn. So we should be ok. We're fine. He's fine. Just normal newborn challenges now.

The truth is I struggle. The future is terrifying. I keep trying to think live in the now, focus on the now, but it's easier said than done. We were told Tuberous Sclerosis Complex (TSC) is one of those terrible diseases that is out of our hands. His tumors are too many to be removed; more will grow and we don't know how they will impact him anyway; there is nothing we can do. At the hospital about 8 weeks ago they discussed with us the tumors in his brain and his EEG results letting us know they expected infantile spasms to start between 2 and 3 months of age. Once they started they would get him on medication, but that only helps control infantile spasms in a small proportion of patients - most kids need to try a variety of medications that never really work and come with an arsenal of their own problematic side effects and many kids, even while medicated, still end up with hundreds of seizures a day. Infantile spasms have a terrible outlook with the grand majority of children that have them developing mental retardation and uncontrollable epilepsy for life.

There is nothing we can do. Sit and wait and watch. 

But yet... I began researching infantile spasms (IS) and reading up on the latest studies impacting children with TSC. In 2011 an article was published showing a brand new study that indicated infants diagnosed with TSC who showed a propensity for infantile spasms (abnormal EEG scans) benefitted greatly from starting a medication before the onset of IS. The study was small and only covered two years, but the results were astounding. Out of the 14 patients treated before the onset of infantile spasms, only two ever developed IS, one of which developed drug resistant epilepsy and they were the only two that developed mental retardation. The other 12 children retained their IQ. 

For the first time since Miles was born we found hope. I found this article on Monday night and Tuesday morning I called our neurologist at Seattle Children's (for the tenth time) begging him to do something preemptively for Miles. And for the tenth time I left a message with a nurse and never heard back. I then called the local TSC expert at Swedish, (Dr. S) who had agreed to meet with us back when Miles was born but only had availability in September. I told the nurse that I needed Miles to start this medication - referenced the paper - and that I would love for Dr. S to sign off on the plan but I was going to find a way to get him on this no matter what. We got a call back immediately and Miles will be going back to the hospital on Monday for a 24hr EEG and a full workup at the Tuberous Sclerosis Clinic at Swedish and if he is a good candidate we will start the medication.

The medication, Sabril, comes with serious side effects and risks - 15% of patients, for example, develop permanent vision loss of some form. However, in our opinion, the risks of not doing anything far outweigh the risks of the medication. We are giddy with hope. Now, our prayers are desperately focused on making sure Miles can go just a few weeks longer without seizures because as soon as they start we lose our edge. Morgan and some friends gave him a priesthood blessing the other night and we have fallen on our knees in desperation because finally we have something tangible to hold onto, something specific to pray for, some hope. 

We are beyond frustrated with Children's that they didn't know about this possibility... we could have started this medication 8 weeks ago and be far ahead of the game. But, is it fair to expect doctors to stay that closely informed of an extremely rare disease that they would be willing to practice a study published only a couple years ago? Probably not - but what a lesson this is for us. We can't just put our trust in the doctors. People kept saying we need to be our child's advocate, and yes, of course we thought... what a silly statement... but now we get it. If we hadn't read this article and pushed for Miles to be seen, we would have started having infantile spasms and it would have been too late. 

We beg of you for prayers, good vibes, energy and so forth that Miles can stay seizure free until the medicine has taken effect and that he will avoid infantile spasms all together. This is empowering, this is exciting, this is hopeful - maybe we are cut out to be Miles' parents after all.