It has been a while since we provided a meaningful update on Willa’s progress and overall health. So that’s what I hope to accomplish here–no profound life lessons included.
When we received Willa’s ADSL diagnosis in August of this year, we said in Re-Evaluate Everythingthat the severity of ADSL patients is quite relative. There is a spectrum. To this point, Willa’s position on that spectrum has remained largely unknown. From the beginning, however, our hypothesis (echoed by her doctors) has been that she must be on the milder end of that spectrum because we have not yet witnessed any seizures (Side bar – if you need a refresher on ADSL, go here. Chronic seizures are a fundamental struggle for ADSL children). But just because we have not seen them does not mean she has not had any. It simply means we have not been able to recognize them. Seizures take place in many shapes and sizes. Often times they are hard to detect. Nevertheless, no seizures typically means (and there certainly are exceptions) less severe ADSL. If Willa were to continue to progress without seizures, she would be one of the few ADSL children ever not to experience them.
I bring up seizures only to say that our, and our doctors’, focus on them as a “key indicator” is somewhat misleading. Seizures or no seizures, we are not out of the woods when it comes to many of the challenges with ADSL.
In Talking about an Early Exit, I described a typical progression with ADSL patients over time. We sat in the doctor’s office shortly after the diagnosis listening to our geneticist explain that “in many cases, the child progresses [with his or her psychomotor development]. Much like Willa is doing today. Slowly [very delayed] but steadily. And then they get sick. Could be a common cold. A virus. Anything. And that’s when the regression occurs. You have to work twice as hard to get the child back to where she was before. You press on and then it happens again. May be a respiratory infection this time. Or a seizure. This vicious cycle may continue for years before the child begins to disengage and become less interactive. And then finally the end may come through a simple bout with pneumonia.”
What I didn’t explain in Talking about an Early Exit, however, is the driver or catalyst behind that sickness, that respiratory infection or pneumonia, that trips up ADSL patients. It’s something called aspiration, and in some children, silent aspiration.
As most of us well-know, the body is designed to allow food and liquids to pass through the esophagus as we swallow and then move down to the stomach. When those things don’t take their normal path, when they instead move down the airway, and when they penetrate below the vocal chords, that’s aspiration. Silent aspiration is when there is no coughing or choking involved as the food or liquids go down that wrong way.
This is where the update comes in
About two weeks ago, Willa underwent a swallow study. This is essentially a real-time x-ray view of her swallowing various liquids and solids (e.g., water, milk, apple sauce, etc.) for several minutes to see what path they take–the right way or the wrong way. The result–well, she has been silently aspirating for potentially her whole life. We of course had no idea. Frankly, it’s a miracle that she has not spent more of her life battling respiratory infections, or the like. Aspiration can cause real damage to the lungs. It works like a mischievous culprit designing a whole host of complications.
We are learning that aspiration is quite common in ADSL patients. The lesson in this for us is that our perception that Willa is somehow less severe than other ADSL children is misguided. We have always thought that she has taken food and liquids quite well. No choking or coughing like we had heard about from others. We could not have been more wrong. All of her favorite fluids have been trickling down into her little lungs for who knows how long.
So what does this mean? Well, in short, meal times in our home have become a much more calculated process. We have also added a new essential item to the grocery/prescription list. We have to add thickener to every bottle of juice, milk, or water she drinks. Everything Willa consumes must be the consistency of honey or thicker. For that reason, we are also now avoiding juicy fruits like pineapples and peaches. Most importantly, we are now monitoring a new set of symptoms to help us recognize the silent aspiration – red, watery eyes, gulping while drinking, or a “gurgly” sounding voice or wheezing during or right after she eats or drinks.
The big takeaway–we are learning to appreciate the fact that the devil truly does lie within the detail of things. The small disruptions in our most basic biological processes tend to have the most profound impacts on our well-being.
In addition to the recent swallow study, Willa just completed her one-year progress evaluation at Hope Landing, her rockstar of a therapy center. It is hard to believe that a year has passed since Willa began her physical, occupational, and speech therapy. She started her therapy journey at 9 months old and, at the time, was operating at the level of a 1-3 month old. In the past 12 months (she’s now 21 months), Willa has progressed developmentally, albeit slowly, to that of a 6-month old. She is hovering below the first percentile for her age from a developmental perspective. This of course sounds horrible, but it’s too be expected given Willa’s condition. We are actually quite encouraged at the simple fact that she is progressing, no matter how small. Remember that conversation about trusting the process in Building a Body of Work.
On that note, we are working to get Willa a therapy table at our new home. (Side bar – we recently moved into a new house for two basic reasons 1) to go from two stories to one and in a more handicap friendly environment, and 2) to have a better space for Willa to do more in-home therapy.)So we are hoping to up her reps soon, supplementing her care at Hope Landing, to improve that progression. Cue the positive vibes–2018 is going to be a great year for this girl.
These Genes Fit Just Right
Thank you all for continuing to visit and share our GoFundMe Campaign – These Genes Fit Just Right.
2 thoughts on “A Brief Update: The Devil is in the Details”
Willa is blessed with observant, compassionate and dedicated parents.. Whatever the cost, it’s very obvious that her needs are your needs. All of you are in my prayers.
(Friend of your Willa’s grandma Valerie)