Rett Syndrome

This has been quite a year. Last March, a week before the world shut down to COVID, was the first time we expressed concern about our sweet little girl to our pediatrician. Since then, there has been a DEPTH of emotions. We have been stretched {sometimes it felt to our breaking point}. But this week, we received a diagnosis for our Lydia of Rett Syndrome.

{WARNING: This is going to be a big LONG post. Journaling is really helpful for me to get all of my thoughts out and I also use these posts to create our family scrapbook/journal every year. So these are all the big and little things I want to remember.}

The Genetic Background

The kind of crazy thing is, back in October, when things were just starting to get going for Lydia I went down a path I promised myself I wouldn’t do. We had been told that there was most likely a genetic component to Lydia’s condition and I went searching on the internet. Let me just tell you, if you want a sad, disheartening activity…do this. There are hundreds {thousands?} of rare genetic diseases in the world. And it just breaks my heart. However, I actually had come across Rett Syndrome and remember thinking, “this makes so much sense”. But, I allowed myself to look only one night, and told myself I needed to stop because it would only lead to worry. That was the end of my thinking about Rett Syndrome…until now.

Neither Mark or I went searching again. That is, until December. After we had our BIG appointment with our developmental pediatrician {she is our doctor that is at the head – everything goes back to her and she puts it all together!} at the beginning of December, Mark and I went on Lydia’s online portal to check her chart. While we were looking through various test results and things on there, we found a paper of notes from this doctor. In it we found that she suspected Lydia of having SMA.

We had no idea what SMA was and our curiosity would not let us leave it alone. We googled it.

SMA stands for spinal muscular atrophy and it is a horrible condition. We were devastated. We tried not to dwell on it but it was like a dark cloud that hung over Mark and I over the holidays. But we pushed it aside the best we could. We told ourselves that there was no use worrying until we knew for sure. That is much easier said than done.

After three months of really intense testing, things all kind of stopped at the beginning of March. Nothing had been found and we were just waiting. We had sent off our blood work to the genetics lab and were waiting results. We were told it would be three to four months. The earliest we thought we would hear back was June.

In the meantime, just last week, we had an appointment with a geneticist at Primary’s. He took pictures of Lydia, examined her, and just reviewed what role genetics plays in all of this. He was extremely kind. But he stated {more than once} how I needed to understand that there would be no treatment and no cure. That at the end of the day, we can only manage symptoms and give an idea of the general course it will take. It wasn’t anything I didn’t already know, but it was still hard to hear.

During the appointment, I asked him if he was comfortable telling me if HE had any initial ideas for diagnosis. He told me that he didn’t. He then asked me if I had any possibilities in mind and we could review them. I told him that the only possible diagnosis we have ever heard mentioned was that of SMA. His whole disposition changed and he immediately asked, “where did you hear that?” I told him about the note we had seen back in December. He then got very serious and said that he didn’t want to mention anything because it is such a devastating diagnosis, but that it was at the top of his list of possibilities.

My heart sunk. I tried to remind myself that nothing was known for sure but it is pretty difficult to suppress those thoughts.

Enter this week. Wednesday, while I was feeding Lydia her lunch, I got a call. It was someone from the genetics clinic. I honestly thought they were calling to tell me there was a problem with our sample or something. Before I knew it, she was telling me that she wanted to meet with me – TOMORROW – in person. As she began setting up the appointment, I finally just had to stop her and ask “Wait, do we have the results back from our genetic test?” She replied that they did. I was shocked. We made the appointment for the following day and I went into FULL freaking out mode.

I finished feeding Lydia, went into my room, paced back and forth for a good fifteen minutes while my hands shook and I held back the tears. Finally, I knelt down in my closet to pray and the tears came full force. I just wanted to curl up and let myself feel all of the feelings. I did, for a few minutes. Then I had to get myself up, put kiddos down for naps, finish our school day, and life had to keep moving. I texted Mark telling him about the appointment and asking if there was any way he could get work off and attend {up until this point, Mark has never been able to come to an appointment because of COVID restrictions, this was the first where two parents were allowed to come}.

That night was pretty subdued. It was all we could think about. We knew that the next day had the potential to change everything in our lives.

We got up early, got the kiddos up and going, and left the house by 7:45. My parents graciously offered to meet us at Primary’s and take the big kids to the park while we went to the appointment with Lydia. It was hard waiting in the room. Mark began tearing and I was trying to not throw up.

Keep in mind, this genetic test is the best that is out there, but still only 30% of people get a result. So we were equal parts terrified of what the result might be AND that there wouldn’t be a result found.

What is Rett Syndrome?

There was no beating around the bush. When we got into the room, we were told that they did have a positive result for Lydia. That of Rett Syndrome.

So here is what we know of Rett Syndrome in the small amount of time that has passed since we got her diagnosis.

Rett Syndrome is a rare genetic neurological and developmental disorder that occurs almost exclusively in girls and causes severe impairments, affecting nearly every aspect of life: their ability to speak, walk, eat, and even breathe easily. The “hallmark” is near constant repetitive hand movements which replace what they call “purposeful hand use” {so in other words she can’t use her hands for sign language or any other helpful activities}. It affects the way the brain develops so it causes a progressive loss of motor skills and speech. It can also cause seizures and intellectual disability.

The most severely disabling feature of Retts is apraxia – which is the inability to perform motor functions. This affects and interferes with every body movement. Other characterizations of Retts are sleep problems, teeth grinding, difficulty chewing, slowed growth, breathing difficulties, inconsolable crying, cold extremities, scoliosis, and irregular heartbeat.

Rett Syndrome is caused by a mutation on the X chromosome. It occurs in 1 in every 10,000 female births. Lydia’s was spontaneous. Which means than she did not inherit it from either Mark or I. So for any family that is reading this, there is no higher risk to anyone. There is a risk, however, that Sarah is a carrier and that will be a choice for her later on if she gets tested.

Four Stages of Retts

Rett Syndrome is broken down into four stages:

Stage I: Early Onset This usually occurs between 6 months and 1 1/2 years old. Signs are subtle. Babies can show less eye contact and lose interest in toys. There are also delays in sitting or crawling.

Stage II: Rapid Deterioration <– Isn’t that the worst name? This usually starts anywhere from 1 to 4 years. Kiddos lose their ability to perform skills they previously had. It can either be rapid or more gradual. Symptoms include slowed head growth, abnormal hand movements, hyperventilating, screaming or crying for no apparent reason, problems with movement and coordination, and a loss of social interaction and communication.

Stage III: Plateau This stage begins anywhere from 2 to 10 and can last for several years. Problems with movement continue but there may be limited improvement in behavior {like crying and irritability} and possibly improvement in hand use and communication. Seizures can begin in this stage and usually don’t occur before age 2.

Stage IV: Late Motor Deterioration This stage usually begins after the age of 10 and can last for years or even decades. It’s marked by reduced mobility, muscle weakness, joint contractures and scoliosis. Seizures may occur less often.

Retts has a WIDE variability. The above is a general course but when and how severe any of these things happen is very much different for each child. We are a little worried because Lydia began things sooner than many and progressed very minimally, so the thought of regressing what little she has is discouraging.

Quality of Life

I hate to include this section, but it is natural to wonder and was a question we asked as well. Lydia’s quality of life will be hard. She will need assistance in every aspect of life, her entire life. Here are the hard but limited statistics {given that there is very little published due to the rarity of Retts}: a 100% chance of reaching age 10, a 90% chance of reaching age 20, a greater than 75% chance of reaching age 30, a greater than 65% chance of reaching age 40, and a greater than 50% chance of reaching age 50.

A big part of extending her life {according to research} is improved nutrition and overall care. The most frequently reported cause of death is listed as sudden, unexplained death – most likely due to cardiorespiratory compromise. The factors most strongly associated with this are uncontrolled seizures, swallowing difficulties, and lack of mobility. Swallowing difficulties can also increase the risk of aspiration pneumonia, which can be difficult to deal with due to compromised lung function.

And a Little Extra

After we got the results of Lydia’s Rett Syndrome, we discovered that she really hit the genetic jackpot. There was another variant that they discovered on top of her Rett Syndrome. It is called cerebral creatine deficiency syndrome.

This was explained to us more than once, but it is still really confusing to me {so I really shouldn’t be trying to explain it} but here it goes. This variant is of “uncertain significance” for Lydia. Which, my understanding, is that the error IS there but it is “uncertain” if it is effecting her. She did inherit this from me.

The strange thing about this is that it is much more common in boys. My limited understanding of this syndrome is that it interrupts the formation or transportation of creatine. Creatine is necessary to increase adenosine triphosphate (ATP), which provides energy to all of the cells in your body. It is essential to sustain the high energy levels needed for muscle and brain development.

Again, there is a wide range of variability with this. And, again, there is no treatment even if we knew if it was affecting her. The features of this are global developmental delays, particularly severe speech delay and intellectual disability.

Additional symptoms are seizure disorders, muscle weakness, behavior disorders, autism-like behaviors, movement disorders, gastrointestinal problems, and failure to thrive.

As you can probably guess, there is a lot of overlap. So even though we aren’t certain if it is affecting Lydia, it is there and is a part of her diagnosis.

Lots of Feelings

In so many ways, this picture accurately shows how I have felt the last six months.

We have been watching the old Mickey cartoons lately and the angel and devil on Pluto’s shoulders is exactly how I have felt. I feel like every moment has just been this war within myself. This constant battle of praying and grasping for faith, and the devil constantly whispering in my ear. And it’s felt just like these silly cartoons depict it – it’s been almost like I can physically hear certain thoughts being put into my head. And it’s discouraging, because I knew who they were coming from, but it sometimes felt impossible to keep them away.

And they would creep into my mind sometimes at the simplest of times. Like at the grocery story. I was walking down an aisle and saw a family, just being happy, and immediately thought “How nice it must be to have not a care in the world? Why does our family have to go through so much?” Isn’t that so frustrating? They were just a family – having a happy moment – and I had this thought to be almost angry with them because somehow their life appeared easier than mine. I am sure their family life has it’s own struggles but I had the thought to feel resentful towards them. I hated that.

And if I were to sum it up, THAT would be the constant thought. I have felt the adversary constantly trying to make me feel abandoned. Or that I somehow caused this. Or that if I was a better mom, I could have somehow prevented it. That nobody understands what it feels like to have a child diagnosed with autism and another child with an unknown {at the time} condition. That I am alone.

It is the worst. And I am so grateful that I made the choice {and had the strength given me} to fight constantly against it. I did not want to let those thoughts linger for any amount of time. I did not want to go down that path for any amount of distance.

But it was exhausting. It was a constant war in my mind. Faith over fear and doubt and anger.

Tender Mercies

But there was so much good the last couple months. Despite the times where I felt like heaven was being painfully silent, ever since Lydia’s diagnosis I have been flooded with a remembrance of so many blessings along the way. He was not being silent. And I want to remember those tender mercies always.

There were two very pivotal moments {for me personally} in all of this that I feel a need to share. Both occurred in December, within days of one another. At this point, we had just found out about the possible SMA diagnosis and I was busy driving back and forth to appointments with WAY too much time to think.

And one quiet moment I had a strong impression come into my mind, a relatively simple question, “Do you believe?” It was truly a life changing moment and I immediately felt the weight of its importance. Did I believe? Did I believe everything I had been taught my whole life? Did I believe everything I have said to believe and KNOW my entire life? Did I believe in a loving, and kind Heavenly Father who knows me, and knows Lydia, and knows my family? Did I believe in a Savior, who is the only person who knows all of the pains of my heart because He has felt them too?

And I will forever be grateful that I answered “yes”. Tears and peace were overwhelming – and in the best way. I was at a crossroads and I am so grateful that all of those spiritually-defining moments I have had throughout my life came flooding through me and gave me the assurance that I DID believe it all. And that I not only believed it – but I knew it.

The second life changing moment for me was just a few days later. I was praying. I was praying for faith to keep moving forward despite all of the unknowns and fear. And I had this distinct thought come into my mind, “She was mine first. I trusted you with her. And now, you need to trust her with Me.”

It makes me cry still just writing it out. Lydia will always be my child and I have never been more grateful for eternal families. And no matter how long she is with us here on earth, when she is called home, she will be welcomed with open arms by a Father and Mother who love her just as much and just as strongly as we do here. And that is a beautiful, wonderful thought. And one that I completely believe.

One thing that the kids have started to say about Lydia is that “she is talking to the angels”. We don’t know why, but it seems to happen more when we are sitting down for meals, Lydia will look up and to the side. She gets this little grin on her face and seems perfectly content. And every time she does, the kids say “Lydie is talking to the angels!” And it fills me.

Here is some Elise doctrine for you. We are taught that when we come to earth, there is a veil put over our eyes and minds. And we do not remember. I believe with Lydia, and others similar to her, that that veil is very thin. I have no problem at all believing that Lydia is talking with the angels. I believe she is surrounded. Just this last year, two of her great grandparents passed away, and she has lots more that were already there, and I believe they are her companions. She is never alone. And she knows that.

Speaking of angels, I had a really simple, but impactful moment about a month ago. When my Grandpa and Grandma Moldenhauer moved out of their home several years ago, we inherited quite a few of their books. Five years ago, my Grandpa Moldenhauer passed away. I have been reading a series of his about the Revolutionary War. My Grandpa would always dog-ear his books {which secretly drives me crazy!} but as I read them, I just lift them up. When I got to this specific book though, there was a bookmark in it. I almost just pulled it out {and I don’t know why I didn’t} but I decided to just leave it in and decided I would just pull it out when I got to it.

When I finally got to the bookmark, I believe it was in there for a reason. This is a paragraph from that page:

“Life can be hard. But the thing is, it moves. Good times pass, but so do bad ones. It seems like the Almighty meant for us to taste it all, one way or another. Maybe more good or bad for some of us, but in time we share it all. Rich, poor, high, low – it makes no difference. Maybe that’s what life’s all about – finding out if we can take it all, and learn, and keep going.”

When I read that, tears started to come. I felt like it was words straight from my Grandpa to me. And, also, it made me think that this passage brought HIM comfort. I have a passage in one of my favorite books that I keep a bookmark in so I can read it easily, and I like to think that this was the same for him.

The last six months I have heavily studied the words from October General Conference. And I can’t tell you how many times it felt like it was a conference 100% directed to me. So many of the talks I would read exactly when I needed them. I would also listen to them as I got ready for the day. I read and listened to them so frequently that the words have been imprinted on me. Phrases come to my mind, right when I need them, and it has been such a comfort.

And there have been several wonderful people that have been so kind to me. As I said earlier, the battle in my head of feeling so alone and different from everyone else was difficult, and people have reached out to me when I have really needed it. I am grateful for the encouraging calls from family, cards and flowers from my sisters, and packages and texts from friends. Your kindness to me, during this time in my life, I will never forget. You have inspired me and I hope and pray to be that kind of person to others that many have been to me.

Mark and I went into our appointment so overwhelmed. But ever since the words came out about Lydia’s diagnosis I have been incredibly calm. I feel peace. A deep peace. I feel like my heart and spirit have been entirely engulfed and filled with this assurance that it is all in His hands. Our sweet Lydia is special. Ever since she was itty bitty, I would sometimes find myself calling her “my little angel”. I had never called any of our other children that. And the last couple months when those words would slip out – I actually didn’t like – because of this intense desire to keep her here with me – I didn’t want her to be my little angel. But last night, I found the words slip out again and it didn’t make me feel like taking it back and it didn’t make me feel bad. She IS our little angel. She is our earthly angel who has blessed {and will continue to bless} our lives tremendously. She makes us all want to be better. It is hard to be upset when you are around such goodness and purity. I am humbled to be her mother. I feel inadequate a lot and more than once feel like the Lord overestimates my abilities, but one thing I know I can do is love Lydia. And I will love her forever.