One year ago we entered the darkest three month period of my life. We had lived for over a year with a diagnosis that our daughter, Katherine, had an incurable and fatal disease, Infantile Neuroaxonal Dystrophy (“INAD”). Two top neurology practices had independently opined that she was “over 90% certain” to have this condition. Her failure to follow a classic course for the disease and lack of typical genetic mutations associated with the disease (80% of the time) was attributed by the physicians to her having an atypical form (the other 20%).
Based on my research and observations of Katherine, I spent the first 14 months of the post-diagnosis period not believing these physicians were correct – or in a state of denial. Then came November of 2014.
INAD is progressive. A person’s physical skills decline fairly rapidly. Although Katherine’s balance had grown somewhat worse and her MRI confirmed that she had atrophy in the “balance center” of her cerebellum, her progression was not as rapid as one expected for INAD, and did not follow the same pattern. Our Katherine had no balance, but she could move every part of her body. She was full of energy and spent hours playing, and climbing on us, on couches, on bookcases, on everything she could find.
In November of 2014, things began to change and change rapidly. Her climbing became clumsy. She then started asking Glenda and I to pick her up to put her on the couch or our low-profile platform bed. “I can’t climb anymore” she would tell us,” pick me up.”
Her energy began to wane. Her rapid and energetic crawling from bedroom to den and back, slowed. She’d often stop mid-way now and say “can you carry me?”
This continued until early December when she had a strange episode that appeared to be a seizure. She had a strange movement, like violent, but unproductive vomiting, followed by being barely responsive for a period of time. We took her to the hospital during one of these episodes. Based on her INAD diagnosis, which often leads to seizures, neurologists ordered a multi-day in-hospital video EEG. We spent several days with Katherine hooked up by wires to EEG equipment, our every move on video. At the conclusion of this horrible period, the doctors said that they did not see seizure activity, but believed she had had one. They placed her on Keppra for seizures.
After another trip to the ER for a similar episode, we approached Christmas with a different little girl than the one we had at Halloween. A lethargic, clumsy child, now unable to climb, and suffering from what appeared to be seizures. Her decline had been rapid. For the first time, I believed, truly believed, that Katherine had INAD. I had just been in denial. My daughter was dying in front of me. By Christmas, I was convinced that it would be her last. At this rate, there was no way she would make it to December of 2015.
The holiday was stressful. I fought with my parents over the need for them to spend some part of Christmas day with Katherine even though this would break their holiday tradition of spending it with their healthy 8th grade grandson. He would be around next year to resume “tradition.” The same could not be said of Katherine. They would always regret not spending Christmas morning watching Katherine’s eyes light up at seeing the presents under the tree. They eventually agreed to come.
We spent New Year’s snuggled up with Katherine, watching the dawn of her last year.
After barely surviving the holidays, we headed to Florida for a much needed respite. Friends had offered us the use of their condo in Sarasota for a week. We decided to spend a few days at Disney World to see if Katherine liked it and had the energy for it. She is “wish eligible” for the Make-a-Wish Foundation, and it appeared that we would need to make our wish soon, while Katherine was still able to enjoy it. A two day trip to the Magic Kingdom would tell us if this common wish would be right for her.
Upon arrival in Florida, I received two terrible notices. The first was to tell us that despite being pre-approved, Humana had decided to reject our claim for Whole Exome Sequencing after the fact. That’s right, they told us we were approved to perform the test, we sent it off, and then when the bill was submitted, they changed their mind and we were informed that we owed approximately $27,000 for this testing.
Soon thereafter and due to an internal snafu involving a change in payment administrators of the insurance, we were mistakenly told that we had no insurance for Katherine, retroactive to December 1. We received bills for Katherine’s hospital stays of over $55,000.
I sat in shock in the Florida condo, adjusting to the fact that $82,000 in bills had just hit us. Happy New Year!
But in more important ways, it was a Happy New Year. As sudden as Katherine’s regression had been, she progressed just as rapidly. Her energy level spiked. I will always remember our second day at Disney. We got up extra early for a breakfast with Mickey, Donald, Goofy, Daisy and Minnie. We spent all day at the Magic Kingdom, taking ride after ride. We went to dinner, and she danced and danced while we waited for a table. We watched the fireworks from the shuttle line. I looked around at all the parents. None had any energy left, nor did the children. Most of the kids around Katherine’s age were already deep asleep in their weary parents’ arms. Not Katherine. In line, she watched the fireworks with excitement. She screamed at the skies, and jumped up and down with my hands as support.
Her climbing returned as well. A day after Disney, on our way home, we stopped to visit Glenda’s mom for a couple of days. There, Katherine grabbed the top of her portable crib with both hands, planted her feet in the wall and hurdled over the top onto a bed, looking more like an Olypmic high jumper than a dying little girl.
We did not know if this was the Keppra, but it started to look up.
Then, the insurance debacle was worked out, and it was acknowledged that we had coverage all along. An appeal from the Whole Exome testing denial was successful. $82,000 in bills vanished.
Finally, in February, the Whole Exome tests came back. The physicians’ “over 90% certainty” was misplaced. Our denial was correct. Katherine did not have INAD.
This brought more changes for us. We entered Katherine in school, something that seemed impossible last year. She is in a clinical test for a drug to treat her medical condition. She is off the seizure medication. We have seen no declines since our dark three months around the holidays. To the contrary, she is progressing. We moved to town near Katherine’s school to give her a handicapped accessible home and to get her into her school community. She loves both school and new home. Katherine faces many struggles. We all face the possibility that her condition is progressive. Katherine cannot walk and is behind in many of her motor skills. She needs speech, physical and occupational therapy. We hope she will be accepted by her school peers for the smart, funny, tough, and beautiful “big girl” she is, and not the baby she may appear to be (based on her motor development compared to their own).
But the shadow of death that seemed so close and so dark last November, December and January, no longer hangs over us. Glenda is in heaven in our new house and has started blogging about it (www.pinkdoorlove.com). For me? I have gone from being at the lowest extended period of my life last year, to being as happy as I have ever been.
What a difference a year makes.