October is Rett Syndrome Awareness month and it seems like a good time to give an update on all things with Lydie’s health from the past year.
This last year has seen mountains and valleys. I remember speaking with a friend in April about how things were going really good with Lydie at the time. This friend knows chronic illness probably more than anyone else I know, and we spoke about how grateful we are for those times of stillness. We know they don’t last – not in a negative way, but just in a realistic way. And sure enough, Lydie’s seizures began just a few short weeks after that.
Rett Syndrome effects every moment of our sweet Lydie’s life. Even in her sleep, her brain is “firing” almost constantly. My heart hurts most days. But my love and awe for her and her ability to see her world and smile and lift us up, never wavers. Lydie sees with celestial eyes. And I admire that so much in her.
This is a tough season to be writing this post because my feelings this month are raw. It has been an extremely heavy month and probably the hardest time for our family since living with Rett.
At the very beginning of October, we heard the heartbreaking news of the passing of one of our friends with Rett Syndrome. Her name was Korrie. We never met Korrie or her family in person. But Korrie’s Mom and I were apart of the same small Rett support group online. I immediately felt drawn to their family in California. They had four kids – two boys and two girls, just like us – they homeschool, and they were members of the Church. There family life seemed so much like our own it was hard not to feel connected. Sweet Korrie passed away unexpectedly one night. She was seven years old.
I learned of her passing late one evening and I was completely overcome. It was about midnight and I went and sat on my front porch and cried and cried. My heart was broken for this family. We hear of sweet, wonderful children passing far too often in our little community, and each time it tugs at my heart. But this time was different. This was someone I had felt connected with. This was a family too similar to my own to distance myself from.
Mark and I were pretty shaken the days after that. So many prayers were given for this family and our eyes and hearts were extra aware of everything with Lydia. But everything hit so much harder for our family at Korrie’s funeral. They had a zoom link for her funeral and I wanted to watch and give my support to this sweet family. I have never personally known a child who has passed away and seeing her small casket was almost too much for me. Mark was sleeping for work but I watched with Lydie on my lap and Sarah snuggled up beside me. The boys stayed in the room, quiet, listening.
Lydie was completely still and at peace watching – which is unusual. Her “stimming” and rocking is constant, but her body was quiet as she watched. She had a look of contentment. Celestial eyes.
The funeral was tender and a beautiful way to celebrate the life of sweet Korrie and their family. The rest of the day for my family was difficult though. Ben asked a lot of thoughtful questions. He didn’t understand how a seven year old could die (Ben will be seven in December). I explained that Korrie’s body was like Lydie’s body. And how because of her Rett Syndrome, every part of her body is affected – her brain, her breathing, her heart, her muscles, her ability to eat, her ability to communicate – and Korrie’s body just got tired. Which then took us to the most devastating question – will Lydie’s body get too tired one day?
This experience made me realize that Mark and I had never really talked with our kids about Lydie’s future. I suppose it is because we don’t know what the future looks like. And it’s too hard to think about. But it’s with us every day. That question hangs over us too frequent. Grief comes in unexpected ways and times.
I had to tell Ben yes. And my heart shattered having to tell my sweet six year old that one day he would have to be like one of Korrie’s brothers. That one day he would have to say goodbye. That we would all have to. We had more tender conversations of the Plan of Salvation then I ever have before on that day. It was sweet and comforting, but so hard. The last thing Ben asked me as I put him to bed that night was, “Is Korrie in heaven?” And the answer was yes.
Later that night, I was doing the dishes, and Sarah came downstairs with wet eyes and completely broke down. Her and I went into her room and laid on her bed and she just cried and cried. In between her cries she would say how she didn’t know what our family would do without her. How it would be too hard. And we just cried. Sarah cried herself to sleep that night and I just held her.
In the weeks that have followed, we have remembered Korrie and her family. We have prayed for them time and time again. We have put their names in the temple and hope the veil has been thin for them as they adjust and try to move forward, knowing one day their family will be whole again.
Rett Syndrome is heartbreaking. It takes so much.
This year has had moments of peace with Lydie’s body and we have also entered uncharted territories. I will try my best to update all the things from this year (beginning where I left off last year).
Neurology
The biggest change this year has been the addition of seizures and a diagnosis of Penelope Syndrome. I wrote all about it HERE. It has been a big learning curve. We are grateful that Lydie’s medication seems to be helping with her seizures enough that they are not a daily occurrence. In fact, we have never seen another seizure like the ones she had in May since she was put on medication. In July, while we were on our trip to Idaho and Utah, Lydie started to have a different kind of seizure. It is a lot more subtle, but she was having them probably five to six times a day.
When we came back we met with her neurology team and they decided to increase her medication.
Her brain activity at night is out of control though. She had a sleep study done in August and they did some monitoring of her brain during that. Her brain was firing 94% of the time. This was actually even a little worse that it was back in May. They decided to switch her to a different, stronger seizure medication. There are a lot more potential problems with this med, so she has to get regular blood work done now as well. This had a couple side effects initially, but those have continued to go away the longer she is on it.
Our neurology team is concerned that the medication is having no effect on her nighttime activity. So we are scheduled for a three day EMU stay in November. The point of the stay is to monitor her brain activity – especially during sleep. If the medication is continuing to have no effect, they have spoken to us about increasing to an even stronger medication. The problem is the next strongest medication is basically a high concentration of valium, which would make her sleep most of the time.
Then we go into the tragic world of quality of life.
We don’t want to lose our girl to meds. We don’t want her to not be present with us. And there isn’t enough research to know if this kind of med would even help her. There are so many unknowns. I am anxious that we have really tough and impossible questions ahead of us. I am dreading it.
GI & Nutrition
This has been another year of adjustments with Lydie and her food. In March, Lydia had a swallow study and we learned that she has been silently aspirating. We thicken her liquids (and sometimes food – depending on what she is eating) and we trust it is going better.
Mark and I were concerned about her nutrition – she truly gets the same food we were giving her when she was eight months old. But we spoke with her nutritionist last month and she said that Lydie gets all the nutrition she needs from her formula every night through her tube and so everything during the day is mostly just “bonus”. I know it should make me feel better, but it doesn’t. It’s another hard thing to process that you will be spoon feeding your little one “baby food” for the rest of her life. But at this point, they don’t think it is safe to try any other type of food for her.
Lydie’s reflux continues to be a daily and nightly struggle. It seems to come in waves. She has weeks where it is much worse than at other times and I have food logged and all the things to try and understand it, but I can’t find any pattern. My heart hurts that she must be so uncomfortable so frequently.
They did add another medication to try and help, so now she is on two meds for her reflux. It still doesn’t feel very controlled but it is the best they can do without more invasive measures.
Pulmonology
Breathing. Lydia’s breath holding has dramatically increased this year. She does it a lot. So much so that I hardly notice anymore, but she is always making the nurses worried. The big question this year has been her obstructed sleep apnea.
Lydia is unable to keep her nasal cannula on for oxygen. This has been a problem for over a year. She never has been able to. She rubs her head back and forth vigorously at night and her hands hit the cannula and we have never had a successful night. She doesn’t seem bothered by the nasal cannula – so she is not doing those things to try and get it off – that is just normal sleeping behavior for her.
We were finally able to get her into another sleep study in August and the goal was to see if she could get taken off the oxygen.
However, after a horrible night, they concluded that her need is actually greater and she needs to be put on a CPAP. I have been so concerned about his. Lydie throws up almost nightly (sometimes multiple times a night), and if she is wearing a mask covering her nose and mouth, the risk is too great for me. She has no way of pulling it off and I would be unaware of any issue. It is an issue that is not being addressed by her doctors at the moment.
They need Lydie to come in for another sleep study so they can find out her exact levels for her CPAP. The soonest they could get her in was next May (nine months after the study!). Luckily, things have changed and last week we learned that they could do her sleep study in November during her EMU stay. I still don’t know how it will work with her vomiting at night but am trying to be hopeful (I will admit I have not been very successful in this case though). If she continues to not get the breathing support, it will put an extra strain on her heart.
Cardiology
So let’s go there. This is a new one for us.
Lydie needs to get a yearly EKG done and she was due earlier this month. She got one and that night I got an email saying that the report was in.
It was abnormal.
I looked around and saw that she had a “left ventricular hypertrophy with secondary repolarization abnormalities”. That meant nothing to me.
I called Mark and asked him if he knew what it meant. He didn’t.
So I “Google-d” it.
I know, I know! I know you are not supposed to. But I also don’t know how you can’t. Your mind just goes a million different places. So Mark and I decided to google it.
So you don’t have to google it – it is basically a thickening of the wall in the main chamber of the heart. This causes a strain on the heart and can cause it to not pump effectively. Everything I read said it needed to be treated early and could lead to heart failure, heart attack, or stroke.
I was not okay. It wasn’t good. I could feel myself right on the edge of spiraling. I tried to keep it together. I tried to not think the worst. But it was hard.
A tender mercy (perhaps?) was that I was in the middle of orientation and paperwork for my CNA class (that it a different topic for a different time) so I tried to busy myself with that.
I wasn’t very successful though. Finally after two days I sent a message to our neurologist (Lydia hasn’t seen a cardiologist before and it was her neurologist that had put in the order), telling him that I had seen the report and asked to talk about it.
He replied that he was not concerned and was waiting to hear back from the cardiologist.
Finally a week after her initial report was released, we heard back. It was very short but the cardiologist said that this is often over-diagnosed and since we were coming into the hospital anyway in a couple weeks, we can repeat her EKG to confirm. If it does come back positive, she will need an ECHO and other follow up testing.
I know there is potential that this is nothing. But there is also potential that this is serious. The timing has not been good. There is never a good time, but with the passing of Korrie, this really put my emotions in overdrive.
Plus, this diagnosis doesn’t make any sense. Heart problems are not unheard of with Rett Syndrome but they are not a “normal” issue either. If there is an issue, it is a long QT – which are fast, chaotic heartbeats. This isn’t that. So I was confused. I feel unsettled about it and am hoping and praying the results are good in November.
Ophthalmology
Eyes. This has been an area that was a bit of a giant question mark. Last October, I was pretty heated about her functional vision evaluation. And there was still some debate about whether or not she needed glasses. But we have some GOOD NEWS on that front. Yay!
Last month, Lydie was given the all clear for regular vision problems! She does have a little bit of near-sightedness but her ophthalmologist says it is so minimal that she probably wouldn’t even notice a difference with glasses so we can put that to rest for the moment.
Her neurologist says she still has cortical visual impairment but he gave us some tools to help with that. She sees better when things are on her left side and has less visual clutter. This is really helpful to know since she will be getting her AAC device soon.
They are still a little concerned about her eyes drifting cross eyed so she has a follow up in March but no big eye concerns yet.
I have been on the hunt for a visual therapist for her for a year and it has been a long, so far, not fruitful journey. We found one but then before we could get started he decided to retire. Then we found another but she doesn’t feel comfortable taking on the complexity of Lydie’s case. The closest one we found is in Denver and is at the school we went to last year for her functional visual evaluation that was so horrible. I have yet to gather myself together to call and see if they will take her on. I need to let the next couple weeks settle a little and then we will tackle that one.
ALL THE THERAPIES – Physical, Speech, Occupational, Music, and Equine
Lydia keeps her schedule pretty busy with all of her therapies every week! Right now, she sees each of these just once a week. They are always wanting more but this is all we can handle right now.
Physical: Not a lot to say about physical therapy. It’s probably Lydie’s least favorite. Lots of stretching and trying to build strength. The goal of physical therapy is simply to not regress.
Speech: We just learned that Lydie’s speech therapist is moving and we are so sad about it. BUT big things are happening with speech. All of the paperwork (oh goodness that has been a process!) has been submitted and Lydie should be receiving an AAC device soon!
An AAC device is an “augmentative and alternative communication” device. It is basically a big iPad that has a screen with images. It tracks Lydies eye-gaze and she will learn how to communicate with the device. It is really amazing technology that we are hoping unlocks sweet communication with our girl.
For insurance purposes we had to trial several different devices but I think we found one that is going to work really well for her. It’s going to be a big learning curve for me to learn and understand it so that I can help teach her but I am excited and hopeful. It’s going to be a long road but hopefully a really wonderful one.
Occupational: We are working on getting some purposeful hand movements. We are trying to get some new splints to open her hands a little more during the day – right now she keeps them balled up pretty tight and her “stimming” is almost constant so we are hopeful that this might help her a little more.
Music: This is a new one for Lydie. She just started in August and, to be honest, I have no idea what she does in there! Mark’s schedule is such that he takes her to this one every week and all I hear is that she loves it! Lydie responds so well to music and I am glad she has some “fun therapy”!
Equine: Speaking of fun therapy, Lydia’s horse therapy continues to go really well. She has definitely fallen asleep on the horse – she is WORN OUT by the end – but she does seem to genuinely enjoy it. She goes on a lot of trail rides and it is a fun thing for her. Weather is definitely the biggest issue with this one. In the summer, we had to switch schedules around so that she could go first thing in the morning to avoid the heat, and now that it is colder we need to switch around her start time to later so it can be a little warmer (it was below 30 yesterday morning during her session!).
Lydie’s body continues to be really effected by the temperature and she is unable to regulate herself. We have to be really careful in the hot and cold and we are blessed to have a equine therapist who is very accommodating and aware of this need.
New Equipment
This year Lydie finally got some personalized equipment just for her. People had warned me, but oh goodness, they were not kidding about what a nightmare that can be. BUT Lydie got a new wheelchair that fits her so well and gives her lots of support AND she got a new stander which works so much better for her. We are so grateful for that.
We have been waiting 11 months for Lydie to get approved for an activity chair. What a mess. BUT, tender mercies abound. Last autumn, we met another Rett family whose daughter is a couple years older than Lydie and she has been giving us their old equipment. It has been such a blessing as we wait for ours to come and we plan to pay it forward to another family when Lydie’s equipment comes in.
She gave us an activity chair which has been such a blessing as we await ours. She has also given us an adaptive stroller and a bath chair. The bath chair has been so helpful! Lydie really can’t support herself in the tub anymore and this has been a huge blessing. We are so grateful for the kindness of others.
Final Thoughts
I said it last year, and I’ll say it again, if anyone made it through all of that you get a gold star! ⭐
As hard as this year has been, especially this last month, it is helpful for me to write things out. I feel clarity when I do and it helps me get out of my head a little.
Lydia is amazing. She is the best person I know. She is the absolute joy of our family. I have never seen siblings love more than hers. She is peaceful and content and fills our world with true joy and purpose. She keeps us grounded and points us to Him. So much is asked of her, and it breaks my heart that life is so heavy, but we know she is loved and never alone. I know angels watch over her. She is peaceful because the veil is so very thin for her. She has eyes that see. We keep trusting in Him and His plan for her and for our family. Thank you to all of you who love her as much as we do. Who see her goodness and pure spirit. We love you and are so grateful.
