Rett Clinic

It has been a L O N G time since I have given a Lydia update with regards to her health. I was thinking how its only been a year and a half since her diagnosis, but it honestly, might as well have been YEARS. I truly can’t remember life before everything changed. It just feels hazy and like someone else’s life. But it’s also amazing to me how resilient we can be. I can be pretty hard on myself. I feel like there is always more I should be doing for Lydia (and the other kiddos – balance is my hardest thing right now). BUT, every day, we show up. And I say “we” because our whole family’s life changed eighteen months ago. Lydia is the most amazing little girl. She has been given difficulties that none of us can imagine having to live with – and yet she wakes up every day, with a smile on her face, lifting us all up. Jacob, Sarah, and Benjamin are the greatest siblings. They love Lydie unconditionally. They each have such a unique and special relationship with her that is beautiful to watch. And Mark and I, well, it’s been a lot. You feel yourself stretched as thin as you think you can go, you maybe catch a breath, and then you get stretched more. But somehow, we are all there, each and every day supporting each other, and I am so grateful for that.

I stopped doing as many updates this last year, not because things weren’t happening, it was just too time consuming to do. But I have tried to keep up on the highlights. Since last autumn, when Lydia last had her Rett Clinic appointment, she has had her G-tube surgery, a sleep study, oxygen, a new wheelchair, lots of new therapies, and a skin graft surgery (not Rett-related but was definitely a major health event for Lydia).

Overall, Lydia is doing really really well! She continues to amaze her doctors that she 1) hasn’t had any sick hospitalizations, and 2) that, as of now, we think she continues to remain seizure free.

I feel like we’ve been really open that the main reason we moved to Colorado this spring, was so that we could be closer to services for her. Moving here has been an incredible blessing – but that is deserving of its own post another day. The hardest part of moving has easily been getting Lydia’s care changed over. When you are interacting with as many doctors and specialists and therapists as we do, it is A LOT. Not to mention getting insurance, Medicaid, and waivers worked out. We are *just about* all squared away (after six months), and are just waiting on one more waiver and then everyone says we should be set! Let’s hope so!

So I will dive into our Rett Clinic appointment – and add in info from other appointments as we go. The Rett Clinic was definitely a huge reason why we felt pulled to move to Colorado. I cannot tell you how wonderful it is to walk into a clinic where everyone knows what Rett Syndrome is – I don’t have to explain anything! – and have Lydia be seen in such a special way. It’s a tremendous blessing and we are so grateful.

Now that Lydia is “established” we didn’t see as many doctors as we did on our first visit last year. And we were okay with that. It’s more based on what her needs are at the time. BUT before I dive in, another huge blessing is that because we live locally now, most of the Rett specialists are now Lydia’s primary doctors in their individual fields. Such a blessing!

This post is really really really long. But this is how I journal all the things, so just warning you 😉

Nutrition and GI

First up was nutrition and GI! This is a big area for Lydia. If there is one thing we have learned the last year is there is a HUGE SPECTRUM when it comes to all things Rett. This is an area where Lydia struggles, but it could always be worse!

Lydia’s G-tube has been an incredible blessing. I was so stressed about getting it, and am so grateful we have. It has been a lifesaver when it comes to giving medication. It is also so helpful when Lydia does get sick, because we can stay on top of her hydration and give her lots of good things through her tube. I was also so pleasantly surprised, from my perspective, how quickly I got comfortable with it all. I am not a medically inclined individual. But it was nice how fast it became our new normal.

All that being said, Lydia is still struggling with her growth. We met with our nutritionist over telehealth this summer and it’s just tricky. Lydia is really sensitive to volume. We know how much she can handle, and if you give her more, she just throws it up. The thing is though, she is getting the same amount of food I gave her when she was eight months old. That’s not great for a three year old. After Lydia got her G-tube she immediately bumped up about three pounds but then she hasn’t gained anything since. In fact, she is at a lower percentile now than she was BEFORE the tube.

So they asked us what we want to do – or in other words, how aggressive we want to be. And this is how I responded. Lydia seems good. Maybe it is the Mom in me, but I don’t look at her and see a “sickly” child. You notice it more when she is not clothed, her middle area shows how thin she is. So this is an area where I just try and trust the specialists. They agreed that they aren’t really concerned but she does need to be monitored a little more closely than she has. She will go in and get more weight checks and she needs to be showing some progress in the next couple months or we will have to start being more aggressive. Currently, Lydia is weighing in at 25 pounds (3%) and 36 inches tall (14%).

Right now, nothing is changing immediately. Just mostly talking about what possibilities may come. As far as the GI side goes, they have been wanting to change things up (which I don’t love). Lydia struggles a lot with reflux. BUT we finally upped her dosage of a medication to twice a day, and it has been magical. No more middle of the night vomiting and far less during the day. But they are worried about the long term effects of this and want to scale her back. It’s so hard to know what is best.

Constipation is another HUGE issue for pretty much all kiddos with Rett Syndrome it seems. Her GI doctor (and us) would like to try some more natural sources to help with that. Again, being on her current meds every day is not great long term – so we are going to switch to magnesium.

feeding evaluation

One thing they wanted to do at our Rett Clinic appointment was get Lydia a FULL feeding evaluation done with the team at Children’s Hospital. With starting new therapies, I keep getting asked if I want Lydia to receive feeding therapy. We did do that in Wyoming, but we saw no progress with it. My view – I have completely accepted that Lydia may never eat beyond pureed foods and will depend on someone to feed her. But I also don’t want to be holding her back. So I guess my only question was, “what is a realistic goal or expectation for her eating?”.

Another blessing came our way. Normally, these things can take a LONG time to get into, but they were able to get Lydia in within a week of our Rett Clinic appointment. Since I am behind in posting, we have since had that appointment.

It was another LONG appointment with five different individuals – a mix of doctors and therapists. After observing Lydia eat and drink and asking me dozens and dozens of questions, they came back with their recommendations.

It’s a lot. And for the first time, in a long time actually, I kind of broke down about it. They want me to change what Lydia is eating and how frequently she eats and drinks. They also want her to take an intense six-week therapy program in Denver. They want her connected to her tube much more often getting fluids during the day. Basically, a lot more prep and time on my part, and work for Lydia. It’s just a lot. Do you remember me mentioning “balance” at the beginning? It feels like a constant battle. I don’t know how to find more time and balance everything so that I am not living by a strict minute by minute schedule.

BUT. I had a nice talk with Heavenly Father and we are going to be okay. Truly. We get up and we keep going. And last year, everything seemed really overwhelming and it’s become our new normal. And soon this will be, too. Resilience!

They also want Lydia to get a swallow study done. Lydia doesn’t have any obvious signs of aspiration, but one of the doctors in her evaluation was worried that Lydia might be “silently aspirating”. Even if she is not, there is a strong chance that she will eventually get there given her current struggles and they want to get a baseline.

Research Study

Rett Syndrome has gotten a lot of attention in recent years. My heart truly goes out to all of those that have been fighting this for far longer than we have, on very limited knowledge and support from the medical community. But we were asked if Lydia would participate in a clinical research study over the next five years. It was a very simple yes from me. All it involves is more paperwork for me (what’s a couple more piles of paperwork a year 😉) and that’s it! But if they can learn something from Lydia to help other kiddos down the road, I think that is something Lydia and I can support.

Orthopedics and Physical Therapy

This was another big one for Lydia. Can I just say again, that this team at the Rett Clinic is incredible?! It was so nice to meet with this group. And there was a lot of good that came out of our visit with them. First, is that Lydia is looking really good. It seems another characteristic of Rett is being very floppy when young, and then you get very rigid as you get older. Right now, Lydia is very “loose” still and that is a good thing! She is getting a little tight in her ankles (Lydia is always pointing her toes and never flexes her foot unless she is wearing her foot braces), so we need to increase her stretches with that. They also want her to wear her AFO’s 4-6 hours a day. That is a HUGE increase from where we are currently at but we will gradually build up to that and hopefully Lydia handles it well.

Another win was her hips have not worsened at all over the last year and she is doing great there. AND her spine is looking awesome! Scoliosis is another huge thing for these kiddos and even though Lydia is still really young for us to be too concerned with scoliosis – we are going to take it as a win!

They were a little concerned about Lydia’s hand use. That is honestly, one of my biggest things I wish for Lydia, because it would greatly improve her quality of life. Lydia’s hands hardly ever stop. She has zero purposeful hand use at this point. And it’s not just that, but she is always banging her hands together (she has one hand that she hits into the other), and that has caused her hands to bleed at times. She has also started mouthing significantly more and so her skin is starting to break down on her hands and arms.

We have braces for Lydia’s arms, but that doesn’t deter her at all. She still claps her hands even with them on, and then will hit her face with her braced arm trying to get to her mouth. They recommended we get her some special gloves that can at least protect her skin from break down from the mouthing, and try and work on getting stiffer braces for her arms.

Lydia has some fun toys coming her way! Besides the new arm braces, she is also getting new AFO’s (surprisingly because her current ones are too big – again, she is tiny), her own stander and wheelchair (currently ours are on loan from Shriners Hospital in Salt Lake City), and an activity chair (something a little more casual for around the house). They also talked about something for bathing but I feel like we are doing okay for right now.

Now comes that enormous task of getting all of these things, but we will get there!

Respite Care

The nurse practitioner, who runs the show at the Rett Clinic, came in and was so sweet with Lydia while we waited for the neurologist. She gave her a goody bag full of fun activities while we waited. We went over more things, but some thing I was not at all prepared for was asking about respite care.

I know a lot of people do it, but I was not expecting it. She was worried about my health. She asked me when the last time my husband and I went on a date – I laughed. We’ve never had a babysitter outside of family (and we’ve never lived by family so that gives you a hint at how often Mark and I get alone time). She also knows how difficult Lydia’s sleep is (more on that later), that I homeschool all of our kiddos, and is just worried about me.

I am not ready. I am not going to say never, but I am definitely not ready right now for outside care to come into our home. I don’t know if I ever will be, but I don’t know.

Neurology

The neurologist at the Rett Clinic is truly the best doctor out there – and I’ve seen A LOT! He is a blessing to the Rett community in the world and we are so blessed to have him here in Colorado. He came in and is the sweetest. I could tell Lydia was just loving on him. He immediately pulled Lydia up to him and they just had an “eye conversation”. And Lydia and him just stared at each other for minutes and it was so sweet to watch.

sleep

Enter lots more questions – on both sides. Here are the highlights. Sleep is a mess. I will say this for Miss Lydie, her sleep is better than it was. She still gets up probably 2-3 times a night, but she is quicker to go back to sleep than she used to be. We also very rarely get the inconsolable crying that she used to have at night. But one thing she has started to do just the last month or so, is get up at 3 or 4 every night, and stay awake the rest of the night. This is really hard for me because I cannot sleep when she is up – even if she is happy. It’s also been really hard because Mark is now working nights so I am on my own much of the time. Exhaustion every day is my normal.

oxygen

Dr. B was all set to give Lydia a prescription for some sleep meds (and oh goodness was I happy). But…then I told him how last November she had a sleep study done, and how she has obstructed sleep apnea, and how the oxygen has been honestly a nightmare. When we lived in Wyoming, we tried three different machines and each one smelled so badly of cigarette smoke. So we stopped.

When we moved here, we met with the pulmonology team at the hospital and they gave us some strategies to try. The oxygen we got here didn’t have a smoke smell at all – but Lydia just didn’t like it. It turns out they had given her an ADULT size canula. Poor girl. Once we got her the right size for her tiny little nose, Lydia really stopped resisting. But we still have a problem. Lydia has no function of her hands and arms. They are rarely still – always clapping or mouthing. At night, we put braces on both of her arms in an effort to help her relax her body because she can’t stop herself from doing those things. It helps but she still tries. So I really don’t think Lydia minds the oxygen, because when I put it on her and hold her arms, she is relaxed. But we have never had a successful night because she is hitting her face with her braced arms and hands and knocking the canula out. Her poor little nose was getting pretty scratched up from the pulling of the cannula. It has not helped at all with sleep because we are spending so much effort just trying to get the oxygen to work!

So no sleep meds for now. They want her on the oxygen first. I reached out to her team again (since our Rett appointment), and they want us to tape the canula to her face. I don’t love that option but we will figure something out.

Ophthalmologist

Another thing we talked about was Lydia’s vision. Last autumn, Dr. B told us that Lydia has cortical visual impairment or CVI. We went to an ophthalmologist at Primarys and she was maybe my least favorite doctor of all time. She was rude, condescending, unprofessional, and honestly, completely ignored Lydia. Despite this doctor, we went with our gut (and Dr. B) and got Lydia into vision therapy with early intervention. However, once we moved, Lydia aged out of early intervention and hasn’t received vision therapy since.

But last month, we were able to meet with a new ophthalmologist here in Colorado and I like her so much more. She confirmed the CVI as well as several other problems with Lydia’s vision. Lydia has mild esotropia – which basically means her eye is turning inward, or going cross-eyed. She is also near-sighted, however, they don’t feel like glasses are necessary right now. Given all of this, our new ophthalmologist referred us to a school for the blind in Denver to give Lydia an evaluation to determine what function of her eyes she had.

Back to neurology at the Rett Clinic. Dr. B examined Lydia’s eyes a little more. He felt like her left eye was stronger and gave me some tips about moving forward with therapies as well as communication with her CVI. He was really optimistic about our referral to this school and felt like it could be the missing link for Lydia in many ways. I was feeling really hopeful about it too after this!

Functional Vision Evaluation

Enter today. We had Lydia’s evaluation today so I will add that information here. It was kind of a disaster. I had really high expectations for our visit. Everyone I had talked to about it (including other Rett parents) had all raved about it. But my experience was really not positive. The woman that did her evaluation was incredibly negative about our homeschooling.

***Now, let me just pause here. I probably shouldn’t talk about this because it’s a little too fresh but here we go. I have gotten pretty good about ignoring negative opinions about our homeschooling. It’s a decision for Mark and I and our kids, and I pretty much tune out the negative comments of others. However, it has been extra hurtful when doctors, therapists, and specialists question our homeschooling Lydia. Because, in all honesty, they are cruel about it. Today I heard that not only was it impossible for Lydia to get private vision therapy, but that Lydia’s life expectancy and life satisfaction would be greatly diminished by not being in school. I do not believe that. And I think it is cruel to tell a parent that….I just wrote a lot more but deleted because feelings are still too raw and we just won’t go there. But it was a very difficult and tense conversation.***

Basically I felt like I left with no answers. All of the hopes I had going in were dashed. I asked several questions about how I could help Lydia is various circumstances and her response was “a vision therapist in the schools would come up with a plan for you”… every time. It was defeating. I also asked several questions about how her vision could effect using an eye gaze device in the future and she told me she had no experience with those. I asked about some of the recommendations that Dr. B had suggested and she did not agree with them. So honestly, it was not helpful at all. She told me she would send me some recommendations through the mail, and so I hope maybe there will be something there that is beneficial.

Back to Neurology

Dr. B was happily surprised that Lydia has still not had any seizure activity – and let’s just say we are REALLY HAPPY about it too! He asked me who Lydia’s neurologist is now that we have moved. And this is when I did something very un-Elise like (but am so glad I did!). The nurse practitioner earlier has asked this same question and I told her I was hoping Dr. B could be it. She told me that his schedule was crazy and we would need to find another neurologist. I was bummed.

Sooo…when Dr. B asked me I just went for it. I told him we didn’t have one yet and wondered if he would take an “additional patient”. He smiled his wonderful smile, chuckled, and said, “Oh yea, she’s mine!”. My heart could’ve burst! I was so happy, I even got teary eyed. So now Lydia will get to see Dr. B every six months! It is such a blessing and I am so happy Lydia has him in her corner.

Drug Trial

Dr. B then asked what our feelings were about the new drug potentially coming out to treat Rett Syndrome. This is something Mark and I have not talked about at all with anyone. But the last little while, there has been a drug trial for Rett Syndrome and it has finished trials and is now just awaiting approval from the FDA. They will make their decision in March of next year. This would be the first medication to treat Rett Syndrome.

Mark and I have been very guarded in our feelings about it. We’ve listened to people that were involved in the trial and their feelings about it. It was nice to hear Dr. B’s views on it – as he oversaw ten patients during the trial. He said that he believed Lydia would be a good candidate for it but also our feeling guarded about it was probably a wise thing. And I say “guarded” in that this isn’t going to CHANGE EVERYTHING for Lydia. This is not a cure. But as he put it, it might get Lydia on first base. So we are anxious to hear what happens with this drug and how it might effect Lydia. It sounds like an intense medication to be on (more equipment and side effects) but it could be wonderful. We will see.

Our final stop was to cardiology to get Lydia an EKG. She needs one at least once a year and so it was nice to get it done while we were there. Everything looks normal with her heart! YAY!

Lydia and I spent five and a half hours at the hospital and I was so proud of my girl. She is amazing and so patient with these marathon appointments.

Final Thoughts

If anyone made it through that – you get a gold star! I know it is a lot, but it is how I document our life and wanted to remember all the things. Maybe I do need to update more regularly! 😬

Again, Lydia overall is doing really well. She seems more happy and content than she was a year ago. She continues to fill our hearts and spirits each day. Caring for Lydia is a lot, but truly, it feels like an honor. The world may see weakness in her, but I see the strongest person I’ve ever known. She is pure goodness. I wish some days didn’t feel like a fight to get her what she needs, but we will keep trusting in the Master Healer to guide us to what is right for her and our family. Thank you to everyone who loves her right along with us. We are so blessed to have such wonderful people in our lives.