These Are the Things You Don’t Want to Hear

So we saw Anna’s geneticist Tuesday morning. Really the only changes since the last time we were in three years ago is that Anna developed hypothyroidism, she has increased laxity in her joints, and her kyphoscoliosis is worse. There is an additional test we could run now if wanted, but it’s quite expensive… $7-9K at this point. But the price will come down over the next few years. The results take months to get back and might not even tell us anything. The doc said it was like finding a typo in the phone book. They might find a mutation but not know what it means so we’re going to hold off on that test for now. We did the FISH array three years ago and it was normal.

The doc indicated again that Anna most likely has two syndromes. One syndrome is causing her neurological issues of autism, cognitive disability, and seizures… and we don’t know what that is. The other syndrome is one that causes our familial connective tissue disease and autoimmune disease. She feels it is EDS (Ehler-Danlos Syndrome), hypermobility type. It affects my mom (and her mom before her), me, and Anna. Anna is most affected maybe due to some combination of Curtis’s genes and mine. Anna’s hypotonia (low tone) is worse. During the exam, she noted that Anna’s hands were so hypotonic that she would probably never have the strength to manage a button. Because her tone is so low, she tires very easily which may be why she sleeps so much. (Does any of this sound like mild mito issues to anyone? She’s tested negative for mito disease before but we’ve never done the muscle biopsy.) The kyphosis (hunch back) and lordosis (sway back) are worse, as is the hyperextension in her elbows and knees. The doc said that we have to be working on increasing Anna’s core strength and posture because the kyphoscoliosis will become permanent and Anna could be facing spinal fusion surgery in her future. Anna’s gait has changed as well… which I noticed during basketball practice last week at Special Olympics. When Anna runs, her right foot turns out away from her body pretty significantly. I don’t know what exactly is causing the problem but we need to increase her quad strength or she will be facing early joint replacement surgery like me.

These are things you don’t want to hear.

I can’t imagine putting her through a knee replacement like I went through. Or a spinal fusion surgery. ::shiver:: The doc says that those of us with connective tissue and autoimmune disease don’t react well to surgery. I was like “Um, yeah… that’s the truth!” 18 months of getting my knee drained of fluid every single month after my knee replacement only to have a second surgery and have lost a lot of mobility… yeah. Didn’t react well. She already has orthotics in her shoes but she really needs PT. I need a few more hours in the day, ‘mkay?

The geneticist also mentioned one other thing to think about… uterine ablation. She said Anna’s menstrual cycles were likely to be heavy and very uncomfortable due to her other genetic issues. Then you have hygiene, self-care issues, and social impact. Uterine ablation would take care of that. But it would also surgically sterilize her. Given her cognitive disabilities… well.

This is also something you don’t want to hear.

We saw a new pediatric endocrinologist a few weeks ago. The endo we loved moved… boo. But this one is really nice. She’s from India, graduated from Harvard, and talks reallyreally fast in a reallyreally quiet voice. Anna kept asking her if she spoke English, ha. Anna had her first menstrual cycle a few weeks ago and needed a lot of assistance. A lot. So after a few cycles, we’ll be looking at options to stop her cycles or make them very infrequent. But she has to be “regular” first. There are medication options. She’ll be starting middle school this fall, so there is also concern about sexual abuse. This is just the icky stuff no one wants to talk about. Anna is loving and trusting and doesn’t know a stranger. She hugs everyone. We have to protect her. Ugh. Having a girl with her issues… well, between what the geneticist said and what the endo said… let’s just say I shed some tears. I talked with Curtis and my mom. Their gut reactions were the same as mine. No way are we making the decision to take away her ability to have a child. Who knows what she’ll be like as an adult? We want to protect her, yes. But if she should fall in love and want to have a baby someday, I want to support that in whatever way I can. I see her with her baby dolls, yknow? This opens up such a gray, ethical can of worms, doesn’t it? You start talking challenges, cognitive ability, gene pools, informed consent, surgical sterilization… who are we to make those choices?

This stuff just keeps getting harder the older she gets.

Yeah, these are the things you don’t want to hear.

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  • Rebecca Spencer - Oh Holly my friend. Yes this is amazingly hard, far harder than anyone should have to deal with and these new challenges sound tough. But please remember how far you and Anna have come already, these years have not been easy and yet look at how wonderful Anna is. She is a beautiful young lady and I have every confidence that you will together, with the support and love from your family and friends, cope with these new challenges and the reality will be much better than what you are imagining right now. You are loved Holly and we believe in you, please remember that. Rebecca xReplyCancel

  • Jesi Langdale - I just want to say that your daughter is beautiful and your love and respect for her is so so so very beautiful. I could never imagine the challenges you face and you are a wonderful mother. <3ReplyCancel

  • Nina - I completely agree with, Rebecca. You have been through so much with sweet Anna, but yet you both continue to grow and thrive together. All these things you don’t want to hear — will only make you all stronger. :::hugs:::ReplyCancel

  • Jill Cassara - Oh Holly, I’m just stumbling on all of this after checking out your Facebook page. You are so strong and such an inspiration. Big hugs.ReplyCancel

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