We found a doctor researching our son’s gene mutation and were able to get in and see her. It took the whole day between preparing to travel, traveling, and the appointment itself and was well worth the effort. We needed to talk to someone with a good understanding of our son’s genetic condition in order to move forward with the best treatment possible.

It turns out we’ve been taking excellent care of our son. Even without knowing his underlying disorder, we’ve still effectively treated all of its symptoms which can be treated. I’m sure this sounds underwhelming considering the title. Our son’s treatment plan was an important reason, but not the only reason to have this appointment. It was also important to help my husband and other family members progress through their grief and understand our son’s needs.

I’ve reached the grief stage acceptance many months ago in regards to our son having special needs. This isn’t to say I’m unique or better skilled at handling the grief. I’m his caregiver, so it’s natural I would be the first to fully embrace and accept the situation. Without a diagnosis, it was difficult for everyone else to accept. Once we got a diagnosis, even a black and white genetics report with no room for doubt, it was still difficult for them to get their heads around. It took talking to a doctor who really understands the diagnosis to help everyone get on the same page about our son’s diagnosis.

• The feeding tube is normal, and there’s hope he’ll grow out of it eventually. If he does, it will be in his own time.
• His hair falls out easily and is whispy. That will continue throughout the rest of his life and is a purely cosmetic issue.
• There is no magic cure. He’ll always be on the smaller side, and it’s unlikely he’ll get to a normal weight according to the growth charts. He is, however, maintaining a curve and that’s promising.

It was hard to hear each family member’s reaction to the news. I ended up telling one of them at work. While waiting would’ve caused more emotional stress, hearing the details of the diagnosis must have been hard. I could hear in their voice how much it hurt to find out there is no fix for our son’s medical condition. Some of the family members reached acceptance that evening. For others, it may take more time. There’s a subset of people in our lives which are in denial still yet and refuse to believe anything is wrong with our son at all. I’m not sure how, or if, we can bring them through that stage. We may simply have to wait until they progress through it on their own and hope it doesn’t take so long they miss his childhood.

Placing aside those in denial, simply because that can’t be helped, everyone else in our lives seems to finally be close to, if not, on the same page. It’s reduced the stress level by at least half in our home, and maybe more. It legitimized the need to create distance between us and those in denial, significantly reducing any feelings of guilt or shame. Also, having definitive answers to questions like, “how long is he going to be on the feeding tube?” is much more helpful than, “I don’t know.” Now we know with absolute certainty the feeding tube will pass in its own time and not on anyone else’s timetable.

While we didn’t come away with any magic cures for our son’s diagnosis, we did come away with significantly more peace and understanding. It’s impossible to put a price on knowing you’re doing all the right things, especially when you’ve been mistreated for doing your best.