Well friends, Thanksgiving came and went and now Christmas is on the way. Ever since Amelia passed away I find myself not getting into the spirit of Christmas as I used to. Christmas used to be literally my favorite time of year. But, when we were robbed of the chance to share a Christmas with Millie, part of me just couldn’t get back into the mood.
The Christmas after Amelia passed away, I was 28 weeks pregnant with Lydia, who at the time had the nick name “Chewy” due to the amount of heartburn I suffered during that pregnancy. Anyway, we were in Illinois to spend Christmas with Justin’s family and the night before Christmas Eve I was feeling absolutely awful. I was nauseous, hurting and just didn’t feel right. We tried to go back to our hotel to stay and in the later part of the night we decided to go to the hospital to get evaluated. Long story short, I was in preterm labor. They gave me Magnesium Sulfate, which made me absolutely miserable but did its job to stop the progression of labor.
My Christmas track record wasn’t helped that year. But I think the reason it’s so difficult is because I am missing my oldest daughter intensely, and now my Grandma as well. Grieving during the Holidays is just rough. You are expected to put on a front and act like you are OK when inside all you want to do is stay home and veg. I just don’t feel it as much as I used to.
It could also be because of what Christmas has become, commercial and greedy. It’s so important to get your joy from giving during this season. Of course, it’s OK to be joyful about a great gift as well. However getting gifts should never be the focus.
I don’t know why I started to talk about Christmas. I kind of feel like I went off on a tangent.
I wanted to post a little bit about our appointment at CHOP. It was a very bittersweet appointment. We have been waiting to get into CHOP for years. We were extremely pleased with the doctor we saw. She is incredibly kind and is just an exceptional loving human. She wanted to point out that Lydia and I could in fact have two separate illnesses. We do know firsthand that this is possible, as evidenced by our other two girls having SMA.
The biggest thing we brought back from this is a plan, a direction of sorts.
1) They will be reanalyzing Lydia’s Whole Exome Sequencing. This has the potential to bring forth more diagnostic information than we currently have. New genes are being discovered all the time. If something shows up, they will look to see if it came from Justin or myself. If it came from me, that has the potential to be the diagnosis for myself also. This is not a guarantee.
2) Specialists. I need to see A LOT of them. I’ve known this for a while. I am in need of a new neurologist. I also need to follow up with Cardiology, Ophthalmology, Audiology, ENT and possibly a sleep specialist. It’s no secret that my sleep has been crap over the past few years. We are hoping to be able to build a team that will be able to keep an eye on things here closer to home and follow up with the Mito doctor when we are able.
3) Depending on how things go, we may transfer our Mito care to Mayo in Rochester for a few reasons. One reason being that Mayo may have more genetic testing to offer than CHOP. Another very obvious reason being that it would be 100 times closer.
Unfortunately, our medical odyssey’s continue. Someday they may get figured out. I hope and pray that that day is soon. My biggest hope is that this reanalysis will yield a diagnosis. I do know that this isn’t a guarantee and I have to be willing to accept that a genetic diagnosis may be years away yet. I just hope that’s not the case.
At any rate, I’m done rambling. I hope and pray that you and your family have a very Merry Christmas and wish you all the best to come in 2020. I plan to recap the year before long.
Thanks for stopping in.
Sami
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