Return to "normal"

As of Friday, Arizona's "stay at home" orders will be lifted, and just like that the state will be returning to normal.  Whatever that new normal is anyway.  I am on the ledge with my feelings, I have been from the very beginning.  On the one hand, the entire 4 years 11 months and 23 days of Sonzee's life we spent in a sort of quarantine.  We were extra diligent about who we allowed in the house and where we went.  Anyone close to us was aware that our restrictions followed Pheonix Children's Hospital, and that meant between December and May you weren't allowed in our house and we weren't going into yours.  We did our best to protect her, and if I push any potential "mom guilt" aside, we did a pretty damn good job of it.  Pre-covid19 times were for us, spent as if the virus was around because Sonzee was around, and now, now we are told to return to normal, yet I don't have the slightest idea what that even means because this was our normal.

Today, for the first time in 5 years we are packing up the car with four children for a weekend getaway that we booked yesterday.  A spontaneous trip to the cooler weather for us to go to be in a different location, to continue to do what is familiar to us yet completely unknown because there was no need for preparation.  There are no deliveries to work around, no fear of being 3-4 hours away from the nearest children's hospital, and no nurses to convince that they too need a weekend getaway.  There are no pressures to return to the normalcy of stores, sports, activities, or even socialization because we are going to hide away in the woods, and seclude ourselves even further.  The only decisions I anticipate to make this weekend are whether to sit outdoors or go for a walk.

I can't lie, the entire quarantine period has been a significant relief for us not having to figure out what our new normal is going to look like.  The fear of having to start to face that reality as soon as Friday is making me feel completely suffocated.  I don't know what is best for our family because we aren't the same family we once were.  The horribly sad reality is that we don't have to make all of the sacrifices we once used to make (without even thinking twice), yet that brings on its own form of heaviness.  I don't know what normal is, or what it is supposed to be.  I don't know if I am even ready for any new anything, much less a normal that doesn't revolve around a medically complex child.  What I do know, is that since I am not ready to deal with whatever normal might be, we are going to head over to Sonzee, tell her I will be back to see her Monday and let her know that she can come to join us in 20-degree cooler weather.  All the while I am going to be reminding myself that this weekend getaway is not going to give me any concrete answers or feelings of normalcy no matter how much I would love to fool myself into thinking that it could or would.

Searching

After April 16, 2015, I never anticipated that we would ever have a question again as to the "cause" of Sonzee's symptoms.  That was the day we were given a summary for her life.  It was the reason for her uncontrollable seizures, her "eyes doing weird things", her cortical vision impairment, and all of her developmental delays.  8 months later it was the reason for her failure to thrive, for the need to get a g-tube, for her to start the ketogenic diet, and for the hypsarrhythmia found in her EEG background. 13 months from that original April date it was the reason for why her stomach just stopped working and why she needed TPN for the first time.  Despite always searching for various answers for her different presentations of GI issues and never needing to search further for the reasons behind her atrocious seizures, CDKL5 has always been our answer...

Until it wasn't.

In September after Sonzee received her personal gait trainer and began to practice more weight bearing we learned she had 5 fractures all in various stages of healing.  I considered every possible cause, but ultimately CDKL5 received the blame.  There are a handful of kiddos who have a CDKL5 diagnosis who also require extensive bone monitoring and supplements, so like her severe presentation of GI issues, I just considered her to have been impacted more in the area of her bone health.  Honestly, besides blaming the formula she is on, it makes perfect sense to place the burden of this on CDKL5.  She is non-ambulatory, she has severe seizures, and she has osteopenia, of course, it could be CDKL5.  Not one of her doctors felt there was any other explanation, so I let it go.

It wasn't until her most recent fracture within the last two weeks and multiple private messages from followers that a voice of doubt began to get louder in my mind.  It doesn't make sense, (my guess is) 95% of kiddos diagnosed with CDKL5 are non-ambulatory, the majority are non-weight bearing, the same percentage if not more have atrocious seizures, it just doesn't make sense!  How did she get a compression fracture when she cannot even sit? How did she get a buckle fracture in her right ankle when she hasn't even put AFO's on in months?  What caused all of her fractures in September?  These are small fractures, they do not require any casting or surgery.  I decided to call the CDKL5 clinic and ask for orthopedics and endocrinology to consult when we go in 2 weeks.  I was told that they will consult with orthopedics, but this is not a CDKL5 issue and they recommend further testing.  I immediately emailed Sonzee's geneticist and explained the situation, who after hearing CDKL5 clinic recommended the testing said she had no problem starting with the sequencing panel for brittle bones.

In 2015 when genetic testing was offered to "find the cause of Sonzee's seizures", I didn't understand what that truly meant.  I have always been thankful that we didn't have to spend years of her life wondering "why" she was the way she was, but I feel like it has prevented us from seeing clearly.  I don't know how I am supposed to be feeling right now, but it is a mixture of hope for a clear cut answer, of sadness over what that answer is likely to reveal, and fear over what it will mean for her.  The days before we were told CDKL5 I said I needed an answer, and as long as we had one I could deal with it.  I feel like I am at that point again...I need an answer and we will deal with whatever it is.

"As long as one keeps searching, the answers come"-Joan Baez