Two weeks ago, Lydia had an appointment at the Rett Clinic. We were so grateful we were able to get in when we did. It has been eighteen months since her last one and a lot has changed for her since then. This is a marathon of an appointment but it went so well!
Making Friends
We came a little early and we were finally able to meet a Rett mama in person that I was able to connect with right after we moved to Colorado. It was so fun to sit and chat and talk about all the things with our girls. We also met a really sweet little girl (who is also four years old) and her mama from Idaho. It is amazing to me how instant the connection is between us mamas and our girls.
GI & Nutrition
This was such a happy visit! This was the area that Lydie used to have the biggest struggles. And there was so much improvement! First of all – Lydia is ENORMOUS! We had to weigh her twice to make sure – but she has grown so much. She has been in the 3rd (or less) percentile her entire life. She was in the 37th! I couldn’t believe it. She has gained eight pounds in four months! We had definitely noticed her growth but I was shocked at the numbers!
The problem is that now she is gaining too much, too quickly! It’s never right! But we are happy our little one is growing, even if it does make things a little harder on our backs here at home. One path that we talked about is that if she is getting enough calories in her during the day, we might be able to stop her continuous formula feeds at night. I view this as a BIG WIN! That way her g-tube could be used for times of sickness and medications only. That would be so exciting and such a positive step for her.
Another big win is that Lydia’s reflux has pretty much completely gone away! YAY! This used to be such a struggle for our girl. We would go through multiple outfits a day and it just had to be miserable for her to constantly be having that issue. But it is now a pretty rare thing to have any reflux and we are so happy for her. She has been on two meds to help with it. We have been giving less of one of them, and her GI agreed that we could take her off of it and see how she does. Very happy for our girl!
Rehabilitation & Physical Therapy
Our second group in was from rehabilitation and physical therapy. Before we dive into that – Lydia was so happy during her appointment. She was all smiles and giggles and was so engaged. I loved seeing her like that! More often than not, appointments seem to make her pretty nervous. She does a lot of teeth grinding and stimming but she seemed so calm and happy this day! Everyone was loving on her.
This session was a little bit harder. We’ve noticed Lydia’s posture decline a lot this year. When she does sit up, it is not for very long, and oftentimes she is opposed to sitting up at all. Her neck control has also greatly diminished. Many times, Mark or I will have to use our palm on her forehead to keep her head up while we are feeding her. It has been really hard to see.
Lydia is approaching a shift in her Rett Syndrome where becoming rigid and scoliosis become big issues. We agreed that getting updated x-rays on her hips and spine were needed. If nothing else, it will give us a better baseline for the years ahead. But as she grows, we are going to have to shift how we do things. We still carry Lydie a lot (pretty much always at home), but she may need the support of her chair more. That part made me sad.
We love both of these providers so much. They were very supportive and encouraging and left me feeling that we were doing all we could to help Lydie. She still is in her “stander” for an hour every day. And continues all of her therapies. They did suggest that Lydie add water therapy to her list of therapies. I think that could be fun for this sweetie.
Neurology
Right after rehab and PT left, Lydie conked out! She hardly ever falls asleep in her chair so this was a big deal! Luckily for her, we waited quite a bit before neurology came in and so she was able to get a great little catnap in.
This was the finale. I cannot say enough great things about Dr. B. He is not only one of the most knowledgeable men when it comes to Rett Syndrome, but he is probably the kindest, most sincere doctor we have ever experienced (and we have experienced a lot!).
I had a lot on my mind to discuss with him. So while Lydie slept we talked and talked some more. First up, was medications. Last November, when we had that really horrible experience, they decided to add another seizure medication. We have hated this med. It has made Lydia incredibly lethargic. She is so tired all the time. She is up for two hours and then is falling asleep again. Every afternoon, she takes a solid three hour nap and I finally have to wake her up at 5:00 for dinner. And by 7:00 she is ready to go back down again. We feel like she has been more glazed over and not as present.
We had reached out to her epilepsy specialist months ago asking if we could get off of it, but with no response. We have missed our little one.
Dr. B. was so sweet and apologized to both Lydie and me and said she needed to be taken off of it. It’s one of those meds that you have to slowly titrate off, but we are so happy to get her off of it! Another plus, is that a couple of days after our appointment, her epilepsy specialist called me and after talking through some of these things, she said she felt like we should stick with Dr. B. (always!) and that she should step out of Lydie’s care. I was not this doctor’s biggest fan so I was really happy with this arrangement and it will make Lydie’s care simpler to not have two separate neurologist on her team.
Back to Dr. B. We also discussed our plan moving forward with Lydia’s ESES (these are the nightime spikes she is having). Her case is extreme. She is spiking 94% of the time which basically means her brain truly never gets a break. But the reality is, there is just no research on what this means for girls like Lydia. And Mark and I feel like we would rather have an alert and present Lydie, then to keep pushing medications for something we don’t know enough about. We feel a lot of peace about our decision and Dr. B. was very supportive, which I am grateful for. So the new plan is to continue with the original seizure medication that she has been on since last summer because it has been managing her daytime seizures with minimal side effects, and we will ignore the ESES for the time being.
One thing I was disappointed with is that we were not able to connect with the pulmonologist at the Rett clinic. We have tried the last two appointments and it doesn’t seem to be working out. But Dr. B. wanted to hear my concerns there. I spoke to him about our experiences with the sleep study and about the lack of understanding and communication we have felt there. I told him about how I felt about what we did to Lydie last November with the CPAP.
It broke my heart when he told me that this was a story he hears way too frequently.
I told him about my fears and concerns – especially about her sleep study that is planned for October. And this is when my love for Dr. B. just grew even more. He said that Lydia’s experience with the CPAP should never have happened. He told me that he was going to add to her notes in her chart and on her sleep study specifically (as well as call them), to tell them that Lydie is not to have a CPAP put on her, only an oxygen cannula. And that is when I started crying. I was just so grateful. So grateful to know that I had the power as her mom, but also the backing of a medical professional, that that decision was the best for Lydia.
By this time, Lydia work up. She has the sweetest relationship with Dr. B. He talked with her for a while and explained all of the changes we had talked about. He examined her and we went through the whole list of smaller questions and concerns that we had. I am so glad that Lydie gets to be a “favorite” of his. This appointment was such a huge weight off of my shoulders. The last six months, especially, I have felt very disconnected with our providers. But I left finally feeling like we were all on the same page again!
I am grateful for the care that Lydia is receiving. I am grateful for people who genuinely love her and see the whole person that she is. She is a light that shines so bright and it fills my heart when I see her light touch others. Keep shining, sweet pea.
❤️