Here we are, the end of 2017 and we are only 3 and 1/2 weeks away from our UCLA visit. After months of waiting on a date, the call finally came and the Undiagnosed Disease Network at UCLA has scheduled our visit! They have run the whole exome DNA sequence and have the results. It’s very confusing to have waited so long for answers, but also to not know for certain that they even have an answer.
They say there is only a 30% chance that participants receive answers during the visit, but we are hopeful that this is it. It is also a bit unnerving that we will also know his (and our) predisposition to unrelated issues like cancer. Initially, we had declined this testing because he was stable and we weren’t ready to receive the additional information. However, after new issues surfaced and others worsened, we were advised to move forward. We have accepted that this is what was necessary and are ready to receive what they have to tell us.
Our lives could possibly be turned upside down next month.
Many people have asked for more detail on what Grant’s issues entail, so I decided now was the time to explain. Below is his current diagnosis list in chronological order:
Hyperreflexia of lower extremities – overactive knee reflexes
Clonus – rhythmic muscle responses in ankles
Intermittent limb paralysis – began in one arm, switched to other arm and legs
Muscle weakness – specifically in trunk
Mastocytosis – a mast cell disease characterized by histamine reactions such as flushing, hives, and anaphylaxis. Triggers are anything from foods and temperature to medications and emotions.
Abnormal gait – abnormal walking
Dysphagia – swallowing difficulty
Silent aspiration – liquids (no matter how thin or thick) go into his lungs rather than his stomach. He is at continual risk, even from his own saliva, to contract antibiotic resistant aspiration pneumonia.
Esophagitis – inflammation of the esophagus, likely related to the dysphagia
Oral motor sensory issues – feeding difficulty with jaw and tongue movement
Paroxysmal tonic upgaze syndrome – episodes of upward eye movements
Seizure disorder – general, petit mal. Luckily this hasn’t been a continual issue, but due to no known cause, we can’t predict the future likelihood
Ataxia – impaired coordination
If that list could shrink, or even just stop growing, that would be fabulous. Tomorrow, Thursday, we have a consultation with a neurosurgeon. While all of his scans and tests so far have been normal, he does have a cyst on his spine. We will determine a game plan to either monitor or remove the cyst. While I would never imagine putting our baby through a surgery like that, I would also hate to wonder if it’s the cause of all of his issues if we left it. Tomorrow we’ll have the input of the professionals and go from there.
Each day I get more and more anxious for UCLA, so the current struggle is living in the moment each day, for our lives could possibly be turned upside down next month. So here is to appreciating every little moment of each day (even temper tantrums), and enjoying Christmas with family. May everyone enjoy their holidays and remember to find at least one thing to be grateful for each day.
True happiness is to enjoy the present without anxious dependence upon the future.