I'm posting this update out of chronological order but rather in the order I'm sharing.
Jude's ophthalmology report returns, and we get another concerning result. Jude has Optic Nerve Hypoplasia (ONH) in both eyes. A child with ONH has smaller nerves with fewer nerve endings connecting the eyes to the brain. There is no surgical or stem cell treatment for this condition, and the outcomes vary from blindness to perfect vision.
Once again, we braced for the worst. I headed into the hospital and spoke to Jude's nurses. NP Avery has consistently advocated for us with Jude's care and was thankfully there that day to help navigate. ONH is yet another very rare condition. Avery called in three departments: ophthalmology, endocrinology, and neurology, for consults.
First, I spoke to ophthalmology. The doctor told us he has about ten patients with ONH, and their experiences divide roughly into thirds. The first third has no vision issues and can drive at night. The middle third has some visual impairment and can drive during the day but not at night. The final third has a severe visual impairment to blindness. He explained there is no way to know how this will manifest in Jude as he grows up. There is no known correlation between the size of the nerves and the outcome. As children's vision develops until age five, we won't understand Jude's visual impairment for years. He advised us not to make any decisions based on this diagnosis.
Next, I spoke to endocrinology. ONH can indicate that there are hormonal imbalances in Jude's brain. Ariel contextualized that this was a much less scary playing field than either ophthalmology or neurology. Any imbalances can be treated with pills or injections. Candidly, once I learned that, I absorbed very little from this conversation other than not worrying about it now. Also, Jude is going through something called mini-puberty, which is damn cute.
Finally, neurology arrived. This was the most dreaded conversation, the one with the potential to tell me my baby's brain was abnormal and needed further imaging. They arrived and did a physical exam. As I held my breath, they told us they did not recommend Jude undergo another MRI based on this result, their exam, and his previous imaging. I could breathe again.
Often time ONH is an indicator that there will be neurologic abnormalities. Jude did have a brain MRI in the first few weeks of his life. However, Jude was not sedated for that MRI, which means the imaging isn't perfect. At the time, it was sufficient to rule out holoprosencephaly and generally confirm that his midline brain structures were normal. The day's question was whether his ONH diagnosis warranted another sedated MRI for more complete imaging.
Because of Jude's critical airway, sedating Jude is not very simple. To be safe, he would need to be intubated, and every intubation opens the possibility of disturbing his already significantly compromised airway.
Neurology explained that there was very little to gain from a sedated MRI. Jude's first MRI had clear imaging around his midline and the structures they would be interested in based on his ONH diagnosis. Perhaps a sedated MRI would show some slight nuance they wouldn't have much to prognosticate with, but generally, there wasn't much to learn.
Yes, we expect Jude to have some neurological issues. All his congenital abnormalities suggest that he has some genetic condition that we don't know anything about and doesn't show up on his full genetic exome sequencing. Jude is a zebra through and through. Until he grows up, we won't be able to know what his impairments will be. But now, we have every reason to believe he will have a life worth living.