Lydia had an appointment at the Rett Clinic last week. These are always marathon appointments – but always really helpful. I am grateful for the Rett Clinic and all it does to help the families that are impacted with Rett Syndrome. Mark was able to come, which was so nice (he hadn’t been able to come since our very first appointment five years ago), and we brought Benjamin along as well, so we were quite the group! It was four and a half hours – not counting travel time – so it was a long day.
This is going to be a L O N G wordy post. But it is helpful for me to write things down. So if you are wanting a Lydia health update – here it is!
Neurology
First up was our favorite Dr. B. He is the heart and soul of the Rett Clinic, and we are so grateful for him. This was actually our shortest meeting because we’ve seen him twice in the last two months, so we were pretty well caught up.
The biggest thing we’ve been working on with him is seizure management. Lydia is doing really well on her medications. Last month, we decided to increase one of her medications (which helps her kidneys – a side effect of one of her seizure medications). And then we also increased one of her other seizure medications. Lydia has responded really well and her lab work has all come back good and so we are going to stay with that moving forward. Lydie hasn’t had a seizure since March which has been the longest break in awhile and we are really grateful for that.
Gastroenterology & Nutrition
Another team that we just love! We met with Dr. L in April, so we didn’t have much to talk about from a gastroenterology perspective (which we will gladly take!), but we did have quite a bit to talk about with Laura in nutrition. The biggest thing is Lydie’s weight. Lydie’s growth chart has shot up the last two years. She is sitting at about the 65th percentile for weight right now (for context, she was sitting at about the 10th percentile or lower three years ago). And while we are confused as to why the increase in weight (Lydie truly has the exact same diet and amount of food each day that she got when she was two years old), it is happening nonetheless. We made some slight adjustments when we met in April, but her weight is still going up.
So we came up with a plan (lots of plans were made this day!). First up, we are adjusting her nightly feeds and reducing the calorie intake that is happening there (while still maintaining her fluid). We also have decided to try some whole food options instead of the formula. This isn’t so much for the weight gain (although I am hopeful that it will help), but I just like the idea of using real food instead of the formula we were prescribed initially and used ever since. They sent us home with some samples and, so far, Lydie has done fine with them.
They also want to check Lydie’s thyroid to see if that may be contributing to her weight gain. Mark’s family has some history of thyroid problems so we will see what comes from that. Then everything else is on “pause” until Lydie’s swallow study in September to see if she can continue to have pureed foods and liquids by mouth.
Rehabilitation Medicine & Physical Therapy
This was probably our biggest “action” group that we had for the day. Some hard things, even though we expected them at some point, are still hard.
Lydie is getting bigger and we are entering a new chapter in her care. I have felt it for months now. We need to think about the future and what that looks like for her, for our family, and for our home. She is growing up and that changes things.
First of all, Lydie needs new and/or different equipment. The biggest part of her care that causes me the most anxiety is bathing. We have a bath chair that fits into her bathtub, but the combination of reaching deep into the tub to pick up a 57-pound slippery little kiddo, and then twisting to lay her on the ground, wrap her in a towel, and then pick her up again to move her to a place where she can get dry and dressed is a lot.
We discussed putting a rail system in the house, but we don’t feel like we need that yet. In a perfect world, we would have a shower with no “lip” that we could wheel a bathchair in and out of. Unfortunately, our house is not set up like that. So we are looking into what we could get that may help us for now but there are big decisions that need to be made soon.
The second piece of equipment is a new car seat. Lydie is outgrowing her car seat. She is still in a traditional car seat. So now we need to decide what level of support she needs for the future and see what insurance will cover.
The third piece of equipment is a new wheelchair/stroller. Lydie does not love her wheelchair. And, luckily, she doesn’t have to be in it very much usually. We never bring it into the house – it stays in the garage and only used when we are out of the house (we have an “activity chair” for inside the house). It was our first wheelchair, and it has served us well. But I have seen the last couple years more “stroller” type wheelchairs that I think Lydie would like more. They are cushioned and have other features that I really like. AND they can fold down, just like a traditional stroller would. I really like that as we travel and do other things (I cannot imagine trying to gate check her wheelchair – I have heard WAY too many horror stories). So that is something I am really hoping for.
The fourth piece of equipment is a p-pod chair. We tried to get one several years ago, but we were denied by insurance. But we are going to try and give it another go this year. Think of it as a supportive recliner (that almost looks like a bean bag). This would be for when we are at home, watching a movie or relaxing as a family, where she wouldn’t have to be in her activity chair, but also would have more support than sitting on the couch (where she slumps downs). Cross your fingers!
This opens up a whole slew of questions for Lydie’s future and making our home accessible and safe for her and for us. It’s a lot and a topic that is frequent for us right now.
The other part of our discussion was about Lydie’s mobility. Lydie is getting more and more rigid. This is normal as far as I know for kiddos with Rett Syndrome. We knew this was more than likely in our future, but we had hoped it was a little further down.
It’s become apparent to me that I will need to be more intentional with her clothing to get things loose and stretchy to make it easier to take on and off.
Then we had a series of unfortunate events. Quite a few months ago now, Lydie had outgrown her AFOs. So I asked her PCP for a referral to get her refitted. She made a referral but it was to the wrong department. So I had to get another appointment so that we could get another referral to the right place. So Lydie hasn’t had AFOs for several months to wear.
But even before she had outgrown her AFOs, we were getting more and more uncomfortable with putting her in them and in her stander. Forcing her body to bend was hard and we felt like we were breaking her.
So all of these things got brought up to Dr. S. She examined Lydie and things were worse than we thought. Lydie was very stiff and resistant and was never able to get into the full range of motion that is normal.
Another plan. Lydie is going to try a new medication – I believe it’s primarily used for Parkinson’s Disease – to help relax her muscles a little. We will gradually build up to using it three times a day. Then we will meet with Dr. S. again in a couple months to see if we are making some progress and also to begin getting botox shots in her calves. Her body is just so tight. THEN, if all of that goes well, we will try and get her fitted for some new AFOs. But even those will be different and be more of a wedge (so think wearing high heels) to put less strain on her muscles – that way she can at least get back into her stander (and that will probably have to be a very gradual add-on again).
Lydie did have more x-rays done at this appointment of her hips and spine. Her hips are looking really good still, but her spine has changed quite a bit. She now has a 35% curve. We knew this would most likely happen but knowing about something and living it are different. I am trying not to get too sad about it (with varying levels of success) but know that there are more things in the future for her.
Lots to think about.
Speech & Occupational Therapy
I am going to be honest – this was my least favorite appointment. And I am debating about how vulnerable I want to be here. But I felt “called out” and a little misunderstood. I feel like there is just miscommunication – maybe on both sides – about what this is supposed to look like for Lydie.
Speech is my least favorite therapy. Last week, I got in trouble with our speech therapist for taking off Lydie’s device from her wheelchair (because it doesn’t fit in our car) and I just feel frustrated about it. Lydie has an AAC device, which is basically a fancy iPad with eye gaze technology so that you can look at icons which stand for words, and communicate. I think this is amazing technology – I really do. And I love watching kiddos use them.
But I feel like it is hard for Lydie. She doesn’t engage with it even when I do bring it out. In fact, she seems frustrated by it to me, like it’s blocking her from life. And I don’t love having a screen in front of her face all the time. I want to see her face. I feel like we have our own way of communicating that is working. Lydie doesn’t seem frustrated or upset. She is really good at making choices when we give her options (holding up two toys or two shirts – she knows to look at the one she wants and then we give that to her).
But I was told that I am holding her back.
It’s hard. It left me feeling like it’s never enough.
Then occupational therapy was asking about things like chores which just really confused me. And said that I am not giving Lydie a “purpose” by not allowing her to help with the house. I don’t know. All of it just felt hard.
It was one of those moments where I had to remember that I know Lydie best. I am not a perfect Mom, and I know I don’t do everything right, but I do feel confident that Lydie is happy. She is surrounded by people who love her and include her. She smiles and is engaged with us. And we are trying our very best to give her a good and full life.
Research
We also met with the research part of the Rett Clinic. Nothing really to report here. Lydie finished her seizure trial in June that she was a part of the last two years.
Pulmonology
A new department we have never met with before was pulmonology. I just kept thinking – where were you three years ago?!!! But Dr. K. was great. We didn’t have too many concerns at the moment – and luckily no sleep studies anywhere on the horizon. The main topic was the three bouts of pneumonia she has had the last eighteen months. While Lydie has recovered really well and has responded to the medications great when needed, there is concern about the continuous respiratory illnesses compounding and making it harder and harder for her to recover from. Keeping her body healthy this upcoming flu season will be very important.
Final Thoughts
And that’s it. Lydie did so well throughout this marathon appointment. She took a couple cat naps and woke up smiling and ready. It’s such a blessing to have these doctors who have dedicated so much of their careers to the people that are affected by Rett Syndrome. It’s always a bit of a combination of gratitude and overwhelm, but we will keep on! And Lydie will continue to do what she does best, which is give us all perspective and light. We love you, sweet girl.
