On Wednesday night, while Matt was in Chicago and I was enjoying girl-time down with my sister and our daughters, we received a call from Ava's doctor. We'd been hoping for and dreading this call at the same time. He informed us that the most recent testing done on Ava was positive for a genetic mutation causing Alexander's Disease. Ironically, it was Matt (with help from a dear colleague) who actually suspected the diagnosis and it was at his urging our doctors agreed to send off the genetic testing.
Because Matt had suspected Alexander's disease, the diagnosis hasn't really caught us off-guard. It has however given us a clear reason for all of her symptoms and now allows to STOP putting Ava through additional diagnostic testing and treatment trials that have no chance of working. With this diagnosis, we are spared so many "what if's?" We don't need to spend mental or emotional energy weighing the risks and benefits of treatments that won't work, and can instead focus on enjoying the time we have with our dear little one. Truthfully, every day we have is a gift from God, and Ava's life is giving us an opportunity to live like we believe that. Truthfully, it has also given us something to fix our sights on as we pray for her complete healing.
Alexander's disease is an obscenely rare disorder (1 in 2.7 million!) and if you want all the details, you can read very detailed information here. Briefly though, it's a mutation in a gene called GFAP which is a gene essential to the function and proper growth of astrocytes- the very set of cells that were found to be abnormal on Ava's brain biopsy. What her doctors had been considering "serial bad luck" (hydrocephalus, white matter disease, hard-to-treat epilepsy, problems with her brain stem, and lack of development) are actually multiple symptoms of one terrible disease. Ava's GFAP gene mutation has been seen many times before, almost always with symptom onset in early infancy, severe seizures, and usually with death before the age of two. Alexander's disease that begins as early as it did in Ava has no treatment and is always fatal. We have always known that Ava needed a miracle (especially since the last hospitalization when her breathing had deteriorated and we first sensed just how close we were to losing her). Now we know exactly how big that miracle needs to be and how to ask for it by name! As I said a few days ago, God has the power to heal Ava of this genetic mutation as easily as He could fix her vision or reflux!
But this I call to mind,
and therefore I have hope:
The steadfast love of the Lord never ceases;
his mercies never come to an end;
they are new every morning;
great is your faithfulness.
In the midst of our heartbreak, God's mercies are many:
The weather here has been absolutely beautiful, providing us with many hours of outdoor playtime and the mental boost that comes with it
Our older girls are finally over their colds and coughs and able to snuggle with Ava to their hearts' content.
Ava has been home now for several weeks, and for now, her seizures are under control (It was merciful that we didn't have to absorb this news while hospitalized).
Even though Matt was out of town when the news came, we were able to spend time together on the phone, and I was comforted to have my sister here visiting me.
You must be praying, because we have peace that we cannot explain apart from God. We are hardly sleeping, yet His grace is enabling us to put one foot in front of the other. In spite of everything, we feel truly insulated from fear and despair.