Lydia takes on Denver!
This week Mark, Lydia, and I were able to go to Colorado so Lydia could attend the Rett Clinic at the Children’s Hospital Colorado. Very quickly after receiving Lydia’s diagnosis and scrambling to find everything we could about it, we discovered that there are several Rett Clinics throughout the country. This was really unexpected and such an immense blessing. One of the really hard things about Rett is not many providers/therapists know about it and those that do frequently have outdated or inaccurate information. So to have the opportunity to go to a place that SPECIALIZES in Rett Syndrome was an incredible opportunity.
Our trip was ULTRA fast {let’s not do that again} but so good. It was really special to just have time together with the three of us. Lydia was a gem on the drive but was pretty tuckered out by the time we got to Denver. She had a rough night sleep and we were really nervous about how the appointment was going to go.
We drove around and in very UN-Lydie like fashion – she fell asleep! We were so grateful. Our appointment wasn’t until 12:30 and so we had the morning to explore all of our old stomping grounds. We drove by our old apartment and the gate was open and so we snuck in and it was so nice to reminisce {it still holds the honor of being the place we have lived the longest!}. It was lots of fun for us to just relax and take our time revisiting that special time of our lives.
We grabbed some lunch and made our way to the children’s hospital. This children’s hospital is so fantastic. The Rett Clinic is open once a month and is incredible. Once we got checked in we got ready for our five-hour marathon appointment!
Basically how Lydia’s appointment worked was that we stayed in an exam room and all of the specialists filtered in and out throughout the afternoon. We met with a total of nine doctors and specialists {we were actually supposed to meet with two more but they were gone because of the Jewish holiday – so we will have a telehealth appointment with them soon}.
We learned so much and left feeling more positive than we have ever felt since Lydia’s diagnosis. For the first time, Mark and I genuinely felt like we could not only survive as a family, but actually thrive. It was like finally being able to take a deep breath after months of just holding. And each provider was honestly incredible. There were no “duds”. There were no “they are really good at what they do but their bedside needs some work”. Every single one was amazing and we are feeling so blessed.
So here is ALL the details! It’s a LOT, as you can imagine, when you are meeting with so many providers but I will try my best to be as short as I can with it.
Neurology
First stop is NEUROLOGY. The neurologist also is the medical director of the clinic and I cannot say enough good about him. First of all, he came in and sat in the one child’s chair in the room. So here is a grown man who spent an hour squatting on a teeny tiny chair giving so much love to our sweet Lydia. So humble and kind.
After giving us more information about what we could expect from our visit, we reviewed all of our questions {and there was A LOT} that we wanted answers for, and then we jumped in.
Our biggest concerns for neurology were seizures and sleep. Lydia does not have any seizures currently but she is at risk for seizures (I believe the statistic is that 60% of Rett individuals have seizures) and it usually manifests itself between the ages of 2-5.
I have never witnessed someone having a seizure. So other than what I have seen in movies, I am completely in the dark about them. So we got lots of information about what they look like and what we should do.
One tricky thing with Rett is that there are also events simply called “Rett Episodes”. My understanding is that they don’t really know what these are other than they happen in individuals with Rett. However, these episodes resemble seizures and so are easily mistaken.
Our other major concern was sleep. Lydia does not sleep well. She never has. We are pretty much frozen in a newborn stage of sleep. Lydia needs assistance falling asleep and then every time she wakes up at night. I would say she wakes up a minimum of two times a night. Basically, we are ALL very tired all of the time. It has just become our new normal but it is still hard. And we would love to help our girl get the sleep she needs.
As for now, we are going to try Melatonin and see if that improves things at all. We also might try and get creative with weights. Lydia really struggles with settling her arms and legs and that is usually what keeps her from sleeping. The tricky part is she weighs too little to have a weighted blanket and so it is a struggle to find help. BUT we have a couple ideas that we will try out and hopefully that combined with the Melatonin will help.
One thing that was really important for me to hear was our discussion on therapies. Therapy is critical for these girls but not necessarily in the way that I thought. Therapy for individuals with Rett Syndrome is far less about reaching milestones and progression and significantly more about maintenance. The goal for therapy should be maintaining skills and development.
This was really good for me to hear. I have been discouraged because, as of this month, Lydia has been receiving therapy services for a year and I really can’t say we have “checked” anything. I don’t know if I can say we have made any significant progress. So this is a really helpful perspective for me to remember. The goal is just not to go backwards.
Lydia should be receiving intensive physical, occupational, and speech therapy. Our neurologist also recommended alternative therapies such as horse therapy and water therapy.
Probably the biggest new development we received with our time with the neurologist was an additional diagnosis for Lydia. He diagnosed Lydia with cortical visual impairment with oculomotor apraxia. Lots of big words! We are still learning what this means but basically the eyes can see but the brain can’t interpret the visual world.
We have an appointment with Lydia’s ophthalmologist next week {unrelated to this but this will definitely now become part of it}. Lydia also has a lazy eye and so her eye concerns are kind of mounting right now. This is particularly concerning because individuals with Rett are usually only able to communicate with eye gaze equipment so having good eye health is critical for communication. Trying hard to stay calm and trust that things will work out. Lydia will also need to receive vision therapy moving forward now.
Pulmonary
We did not meet with a pulmonologist at this visit. Since Lydia is not currently having respiratory issues that is something we can avoid for the time being. However, the neurologist did tell us that Lydia is breath holding. This is a common practice with Rett but it is one that we didn’t know Lydia was doing. He said it is fairly subtle and he only noticed through his stethoscope. However, this could put a strain on her heart over time so it is important to keep an eye on it.
Cardiology
We also did not meet with a cardiologist. Lydia has to get an EKG done yearly and hers came back normal. Rett Syndrome has a greater risk of a prolonged QT, but Lydia’s heart is looking great!
Genetics
We also met with a genetics doctor and genetic counselor. Our questions here were:
- Does her specific genetic mutation have any indicators or outcomes that we should know about?
- Do our other children need to be tested?
As far as her specific genetic mutation goes, the answer was yes and no. There was a study done several years ago that looked specifically into the different mutations found within Rett Syndrome. Lydia’s specific mutation is defined as more severe but stable. However, the neurologist and geneticist both stated that they have met with several individuals with the same mutation at the same age and seen great variance.
Soooo…basically we left that with it’s not really worth our time and energy worrying about her specific mutation and trying to compare it to others. Lydia’s path will be her own and we feel at peace with that.
Our other children do not have any greater need to be tested. Rett Syndrome can be hereditary but most often it is a spontaneous mutation. That was in our case. Since it was a spontaneous mutation, if we were to have other children, we are not at greater risk of having another child with Rett Syndrome than the general population. And our other children are the same, with no greater risk as well of passing anything along. Of course if they decide to get tested when they get older, that is their choice.
Gastroenterology
One thing that was stated by every single provider was their agreement in getting Lydia a G-Tube. And our gastroenterologist was no exception. I really appreciated his perspective on Lydia as well. This is the department we feel like Lydia has been struggling the most in, but he was really positive. And not in a “minimizing our feelings and concerns” type of way, but in a really encouraging way.
He thought that the G-Tube was very reasonable given her growth curve. And he was also really encouraging that we shouldn’t try and get Lydia’s growth more on par with the general population BUT rather our goal should just be to maintain her personal growth curve. This was more great information for us to hear as parents, and also to pass along to Lydia’s local providers.
Our other concerns for Lydia {with vomiting, reflux, and constipation} he felt like we were managing well and we didn’t need to do add anything else.
Nutrition
As far as nutrition goes, our dietician agreed with the G-Tube and gave us some good resources for formulas and food. I still feel really overwhelmed with the G-Tube {Lydia’s surgery is later this month} but trust that we will be given all of the information we need to be successful.
We also will be adding a separate Vitamin D supplement. Lydia needs a yearly assessment of her Vitamin D level and this needs to be added to her diet.
Rehabilitation Medicine
This was another really great part of our visit. Both the orthopedic surgeon and physical therapist were SO encouraging about Lydia’s abilities. I can’t tell you how nice this was to hear as a parent, when you are used to hearing all the things she can’t do. She also really encouraged other therapy such as aquatic therapy and hippotherapy (horse therapy).
Lydia’s overall “tone” is low. Looking back, this was probably one of the first signs of concern for Lydia. She is definitely floppy. We need to do stretches and other things to help her not get tight. Apparently, low tone is very normal in Rett children until about age five. Then things switch to the other extreme and they can get very tight and rigid. This leads to a LOT of problems and so it is important that we keep things nice and loose for Miss Lydie.
Lydia’s spine is looking really good! Scoliosis is a major concern for individuals with Rett and so x-rays on Lydia’s back is a normal thing. However, Lydia’s right hip is showing signs of dysplasia. This is something we are watching closely but sadly they said there is not much they can do. The hips develop normally by weight bearing and it is just really difficult to duplicate that.
The main topic was equipment. Right now, other than Lydia’s AFOs that she got this summer, we do not have any of our own equipment. We left with three letters of recommendations for equipment.
First, was for bamboo braces. We have had some of these on loan almost since we started therapy a year ago but we have received mostly negative opinions about it. It has been something we have been really confused about it because in our Rett community online that we are apart of, they seem to be used very frequently. But both our local and therapists in Salt Lake were telling us not to use them.
So we went to the experts! They chuckled when they heard our experience and told us that they are extremely beneficial when used in certain ways for individuals with Rett. She showed us how to do it with Lydia and it was amazing to see. We will definitely be getting our own as soon as possible!
The second piece of equipment is a stander. Lydia’s gait trainer that we got about a month ago has largely been really frustrating. She hates it and pretty much refuses to do anything in it. However, Lydia does really well with her stander. We have had this for quite a while now and Lydia does really well with it. And they really want to focus on that. Again, the stander helps with stretching and strengthening muscles, healthy breathing, GI function, bones, language development, cognition and social interactions.
We have really loved our stander but we have always been worried of it getting taken back, since it is only on loan from our child development center. We are really excited to get one of our own that can STAY with us {and maybe hasn’t been so well loved by others 😉}.
Lastly, Lydia was given a recommendation to get an adaptive stroller. This is basically a smaller wheelchair. We will work with our team at Shriners to come up with the right kind of chair for her and her current needs. This was a step that I was prepared for but it definitely took Mark off guard. I am so grateful we have one another to lean on for those steps that are difficult.
Physical Therapy
Physical therapy was very similar to the rehabilitation medicine. She was so encouraging with what we have been doing. One thing that was really interesting, and something I plan to share with our local therapists, was the things Lydia has been doing on a local level were much more aligned with what the Rett Clinic was telling us to do compared to what we have been doing in Salt Lake. Cheers to the little guys! That is not to say we are not really grateful for all that Shriners has been doing for us, but it was a surprise!
The focus for Lydia should be maintaining what she is doing as well as working on “emerging” skills. Lydia is really strong in sitting and so working on transitions to and from sitting as well as hands and knees are going to be our focus right now. I felt so good about this!
She was also really encouraging about using a stander and making that a priority.
Occupational Therapy
This was a LOT of information. We have not been able to get into occupational therapy on a local level and our therapist at Shriners recently left and so we currently are not receiving any occupational therapy. So this was important for me to know so I can do it at home with Lydia. The focus here is on working with Lydia’s fine motor skills, play skills, and age appropriate daily living activities.
One of the big keys here is giving Lydia a sensory-rich environment. She also gave us some great strategies and resources to help with her vision {and agreed with the diagnosis given by the neurologist}. Other great tidbits were resources for switch toys {Mark is totally jazzed about this and really wants to get involved}, and tools to help with daily activities.
We are going to try and start making visual choices with her and hopefully try and start training her eyes so that she can progress to greater communication.
Speech Therapy
Last up is speech therapy. Lydia is at the most basic level of communication, again, think of a young infant. Right now our focus is on understanding cause and effect. We want to help Lydia learn how to use a switch and then make choices from there. A switch could be really helpful for Lydia no matter what, but especially if we continue to have struggles with her eyes.
As with occupational therapy, we were given a lot of resources that we can sort through and slowly start to implement. Lastly, they would like Lydia to take a class that focuses on augmentative and alternative communication so we will see about joining that.
Final Thoughts
Oh boy…a marathon, right?! It was a LOT but oh so good. We are so grateful that Lydia was able to be seen at the Rett Clinic and that we now have a huge team of wonderful doctors in our corner to make sure that Lydia gets the care she needs and deserves. Just to clarify, the Rett Clinic doesn’t replace our local {or not-so-local} care, but is a resource and guide to help educate us and our providers. So in a couple weeks, both us and our local providers will get a big ‘ole packet with all of their recommendations for her care. This will be a visit that we plan on making annually to Denver and we are just so grateful.
Sometimes it is crazy to me that we have only had Lydia’s diagnosis for four short months. So much has changed. But, as I said at the beginning, for the first time we genuinely feel positive about the future. And that is the best gift we could be given right now.
