Unless something drastic happens or we learn new information, Matt and I have decided to have them scope Jonah's upper airway tomorrow morning (just the upper airway scope done in the clinic, not the OR one that would require sedation).
We read the article, "Tracheolaryngeal Complications of Inherited Epidermolysis Bullosa" by Dr. Fine, and that pretty much made up our minds for us. It was a very scary article based on a lot of NOT encouraging findings, and I end the day on a low after having read the information. It does not give a good outlook for Junctional EB - either kind. Although not every child with JEB suffers from airway complications, a good number do, and Jonah is already showing the signs.
Here are some parts we highlighted:
- In a 1980 publication, a 3-week-old child with an autosomal recessive form of EB, clinically most consistent with JEB, presented with inspiratory stridor and retractions, necessitating tracheostomy.
- Approximately 55% and 47% of all patients with JEB-H (Herlitz) and JEB-nH (non-Herlitz) die by age 6 as based on EB Registry lifetable analyses published in 1999. (47% ??????)
- By excluding all other well-known causes of death in these patients, to include failure to thrive, sepsis, pneumonia, and renal failure, we can estimate that up to approximately 10% and 23% of all JEB-H and JEB-nH patients, respectively, die from some other undefinable cause, which would include airway occlusion.
- The magnitude of these cumulative risks for laryngeal stenosis or stricture becomes clinically even more concerning given the fact that sudden airway occlusion and death have been repeatedly described anecdotally in JEB infants and children.
- Because the earliest sign of laryngeal involvement is a weak or hoarse cry, we strongly recommend visualization of the upper airway in any child with EB who presents these findings.
- Elective tracheostomy is the most prudent approach to prevent the risk of sudden airway occlusion occurring later.
- Indeed, we have had two infants die when tracheostomy was deferred because of apparent clinical resolution or improvement of symptoms.
- ... there is a substantial risk of laryngeal stenosis or stricture in infants with JEB and that airway obstruction does contribute to the overall high risk of early childhood motality as well as morbidity.
- Because it is now possible to prevent the majority of JEB infants and children from dying of other causes, most notably septicemia (infection), we would argue that the possibility of preventing airway obstruction in these patients appears to outweigh any concerns over surgical risks from the performance of elective tracheostomy.
- Initially presenting as hoarseness of cry or voice, this may progress to inspiratory stridor and partial or complete airway occlusion. Given that sudden death by suffocation will occur if complete airway occlusion is not immediately reversed, performance of elective tracheostomy when early symptoms of airway compromise arise may prove to be a life-saving preventative intervention.
So anyway, please pray that it's only a cold with caused all of his symptoms or that it is a result of the acid reflux he's battled. I don't want to focus on the negative or believe the worst, but I am really, really scared.
Please pray for Jonah tomorrow as they scope him. Please pray that he will be strong and that his interior will be tough and can resist damage. Please pray for the results, that it is not serious and not something that will result in a tracheostomy. Please pray for us - that we will have peace and wisdom as we talk to the doctors and make decisions for Jonah. Please pray that this is not what it seems, and that all these symptoms are indicative of something much less serious. Please pray that God will send a legion of angels to watch over Jonah tomorrow as he gets the scope and well, that they'll just hang around and protect him for the rest of his long, long life. :)
Thank you for praying. I'll update as soon as I can.