Week 7: What does hope look like?

This was written on facebook about a week after we got Eloise’s original diagnosis.

For Eloise, I’d always thought the formula looked like this:

Hope = Eloise will be a healthy “normal” kid (or, well, let’s face, it, extraordinary is what I was imagining since she’s ours)

But it just can’t look like that. I don’t feel that way from a “I’m giving up hope” standpoint but from a “She’s missing 19 million base pairs of DNA. That’s a lot. It will have a profound effect on her. I cannot hold on to a delusion that she will be okay without them.”

I found a group for parents of kids with the 2q24.3 microdeletions yesterday and joined. It’s now doubly clear that “normal” will not be in her future. A few of the kids do walk. Most smile. Communication I haven’t seen talked about much from the parents so I don’t know much on that front yet.

So we need to re-frame what we think of as “hope.” Otherwise, all hope is lost. And, as we live life, we’ve seen that there is always hope somewhere, it just can look different than we originally thought.

• We wanted a kid to make us into a much better, less selfish versions of ourselves. I think that’s going to happen.
• We wanted a community to come around us and help us raise this little one so far away from family. I think that’s going to happen.
• We wanted to make sure she’ll grow bigger and stronger because she’s small. Because I’m pumping I have the advantage of knowing exactly what she’s eating, so I can tell if she’s “getting enough” so if we have any influence in it, that’s going to happen.
• We wanted to give her every advantage we could to make her life the best it could be. She has a diagnosis at 6 weeks of age, which is far earlier than many others with her same deletions and means we have a better chance at getting her help early.

Of course there’s a whole lot of other stuff we wanted that we won’t get, maybe ever. But that’s something we need to accept.

Some things I’ve learned

Within the “2q24.3 microdeletion”, there are things called “sodium channels.” Think of them as the puzzle pieces that make up this part of the chromosome — 9 of them, it looks like. And each kid may be missing a different combination of these puzzle pieces. And, it seems, the combination of what they are missing is a large part of what determines their functioning. Which means, in theory, if we found kids with her exact same deletions, then we’d have a better idea of what may come.

Eloise’s SCN1A, SCN7A, and SCN9A are missing. In the group, however, no one else has even close to that combination. By far, most of them seem to be missing SCN1A, SCN2A, SCN3A, (many SCN4A, too) and SCN9A. Which may mean that she will have quite a different future than the rest of the kids who have different deletions than her. Or may not. We don’t know.

“Normal” is definitely not in her future. But walking, at least assisted, may possibly be. Understanding some stuff around her may possibly be. A personality will probably be. Communication, limited at least, may be.

An idea that maybe you or someone you know might want to help with

Our geneticist told us there were only around 100 known cases around the world. The pamphlet I linked to last time seemed to be based on case studies of anywhere from 7 to 30. The group on facebook of parents has 46 members. That’s a significant sample size.

So far, no one has done a study (that we know of) on what symptoms were present at birth, what symptoms started later, what therapies/interventions/drugs helped what issues, in addition to noting the sodium channel deletions or combinations were involved with what issues.

The researcher in me immediately wanted to reach out individually to all the parents in the group and ask them the above questions and more so we could start plotting out what patterns might turn up. (I.e. if you have SCN1A and SCN4A, 3 out of 3 kids have hearing loss. But if you have SCN1A, SCN4A, AND SCN2A, no hearing loss for those 2 kids.)

Does anyone love researching with qualitative and quantitative methods and have a chunk of time they want to use? These parents are located all over the world and the admin of the group said that if anyone was actually interested in gathering this information, that there are several scientists who would be interested in the data afterwards. And there’s a hopeful piece of me that thinks maybe it will help us be more proactive in figuring out what Eloise’s future may hold, and getting preventative therapy to jumpstart her.

(I’ve also asked our geneticist if she knows a student who would want a project like this, but it also gave me hope to ask just in case someone here would be interested if she doesn’t know of someone.)

I’m getting help

Just a few days ago I was thinking, “Well, before the geneticist’s appointment I was sure we were going to be okay and it was going to be fine. I even realized I could do this pumping thing for a few months, actually. Now, I’m not so sure I’m okay. I know eventually I’ll crawl out of this occasionally dark hole, but I think I need help to do it.”

Our kind midwife wrote and said she’d proactively signed me up for crisis counselling next week after she found out about Eloise’s diagnosis. Julia will watch Eloise and I will go talk to someone. It can’t hurt.

Testing for ourselves

We always wanted to try for another one after Eloise long before she was even born. We’d always dreamed of having a family with 3 kids, but were grateful just to at least have one.

We went in on Friday to get our blood taken (God bless Julia watching her for us) and we will get genetic results in about a month or so. It will tell us if either of us is a carrier. If we are, then the chance of having another kid with the same deletion would be around 50%. And then that would be our answer of probably no more kids. At least not through our embryos we have stored up.

Seizures already & high risk doctor

In the group of parents of other kids like her, a large portion of them said seizures started at 3 months. But then one mentioned that perhaps parents weren’t able to recognize seizures before then.

I did a little youtubing for newborn seizures and I think it’s possible she’s already been having a few tiny seizures most every day (just for a second or two). In the midst of a frenzied feeding she will suddenly look like she’s really startled so her hands go waaaay back and she freezes for just a moment. When she unfreezes she immediately starts crying or whimpering. Brian and I thought that this was just maybe milk accidentally going down her windpipe and startling her. But, in fact, it may be that seizures are already beginning.

Regardless, we have her first high-risk doctor’s appointment at the children’s hospital tomorrow. We’ll discuss these possible seizures and ask if, since one of her gene deletions actually is connected to epilepsy, if there is any harm in starting her on preventative seizure medications.

Fussiness is getting better

Over the last week or so, slowly her mornings are getting better. Not every day is the best, but far far far better than it was before I started cutting things out of my diet. There were suddenly 2 bad days in a row last week that left me baffled before I realized the day before I’d had soup with barley in it. Gluten. The week before when she’d had a really bad day I’d had an Estonian staple food the day before called “mulgipuder.” It also has barley. So we can add gluten to that list of sensitivities.

Going forward

It may take us awhile to find a new north star for “hope.” But we’ll find it. We will.

Thanks for joining us on this journey. I’ll probably keep writing because it’s therapeutic for me, and the kindness of so many of you has just really done more healing for our hearts than anything we realized could.

So keep praying and sending those good thoughts. I wonder now if how “normal” she’s been so far has been due to your support. (Several friends came over this weekend and watched Eloise while we just grieved or did stuff. That was so enormously helpful. One also took our first family photo ever. That was probably overdue.)

Hugs n stuff.