Better Than I

 I went to pick up a balance bike this morning. The lady giving it away was on the complete opposite side of the county from me. It was early enough I was able to leave without having to bring any Monkeys along. Which meant I could pick any music I wanted! So I put on my "Random Mum Mix" and enjoyed hearing some of my songs for the first time in quite a while. And during my trip, "Better Than I" came on. How ironic. This same song was playing during THE Fall. And has played for me during many of my harder times in the last couple of decades. It was comforting and reassuring for yet another thing in my life. I love how the Lord speaks to me and comforts me through music.

Remember

Ironically, I was reminded I wrote this on a blog 10 years ago today: 

"[I'm] someone who has alwas taken hard the death of others.... It's not that I fear death. It's that I miss those who have left me behind. But having those promises more firmly in mind will help me remember that I will get to be with them again--and how joyful it will all be!"

GSS Diagnosis

We met with our genetic counselor this afternoon about the tri-test results. I wasn't able to look up more information until after the kids went down. Here is a quick run-down, and some links that I found about his results.

Mon Amour has Gerstmann-Straussler-Scheinker Disease/Syndrome (GSS):

• It is extremely rare (1 in 100,000,000)
• It is a defect through the 20th chromosome that causes prion proteins to misfold. This misfolding is toxic, mostly damaging the brain. The damage builds up throughout life which is why symptoms are not usually seen until usually 40s and 50s.
• There is no cure or treatment; for now we treat and monitor the existing symptoms (from the Cerebellar Ataxia that GSS has caused)
• It is fatal. Cases have seen between 2-15 years from symptom onset to death. It's been at least 2 years since Mon Amour's symptoms have definitely been noticeable. 
• Dementia usually sets in (and we believe we've already been seeing symptoms of that) 
• Progression of disease differs in every case, even within families.
• His parents do not have it. It is "de novo"--new in him. Siblings have less than 1% chance of having it. 
• But it is hereditary, so the kids have 50% chance of inheriting it. Because symptoms do not manifest until adulthood and there is nothing to be done in childhood to treat or prevent the disease, genetic counseling does not recommend having children tested until they can choose for themselves at 18. While one of our children has already asked and knows about their chance of inheriting, the others do not know for various reasons and we ask you to please not talk about the possible hereditary factor with any of them. The news of their father is already a lot to be processing.

Wikipedia

National Organization for Rare Disorders

BrainFacts.org

National Institutes of Health

Medical News Today

CJD Foundation

Prion Alliance (2 scientists working to find treatments/cures for Prion Diseases in general)

We are grateful for the love and support from so many already. We are seeing numerous blessings and miracles in our lives even with the less than ideal outlook. We believe our family can be together forever and hold to the peace that brings. We know this is a part of our journey and that we "can do all things in Christ" who strengthens us, as well as the strength that comes from each of our friends and family members.

THE Fall

THE Fall at the Church was a significant one in Mon Amour's health journey. It's been quite the story for us and worth sharing in full for those interested.

A few days after I got home from my Maine vacation, we had a combined church congregations (aka "wards") Trunk-or-Treat. Usually I would hand out the candy because I loved interacting with all the kids. But this year I let Mon Amour stay at the van so he didn't have to maneuver walking with a cane and 3 little kids. It was nice to meet several of the grown-ups from the other ward. The next day, after church, we were getting the kids in the van. Mon Amour said he was going back in the building to use the restroom. So we waited for him. 

I turned on some Sunday radio music and sang along. I remember belting out one of my favorites that came on ("Better Than I" from "Joseph: King of Dreams") as I watched 3 teenage-ish brothers walking in to the church since their ward would be starting soon. We'd been through at least 3 songs when I was worried about him not coming out, yet. I figured he'd either slipped in the bathroom and was struggling to get back up or had had an incontinence accident. I figured if the latter, he would probably come out so he could take care of that at home. I had forgotten my phone at home and realized if he was trying to call me about a fall, I'd not hear it. But then there was also a possibility that he was busy trying to recover from fall rather than think to call me.

I told the kids I'd be right back, and I headed back in the building. As I rounded the corner to the men's bathroom, I saw the door being propped open and two adult men (aka "Brothers") standing there. I remember saying, "Yeah, I thought this might have hap--" and being cut off as I glimpsed the bathroom at the same time one of the Brothers turned around to stop me from seeing the whole scene. Though I could feel the panic rising just from the glimpse of blood I saw throughout the bathroom, he quickly and calmly explained he was a doctor, and verified that I was Mon Amour's wife. He managed to divert my panic into noticing that we had met the night before at the Trunk-or-Treat. Recognizing him from that actually did calm me down. 

To this day he still cannot recall anything about being in that bathroom leading up to the fall, which is a tender mercy but forever a mystery to the rest of us in what happened. Over time,we have pieced together what we could: Surprisingly, he used a urinal. I take great pride and gratitude in my husband's consideration that he almost always sits to use the bathroom to decrease any risk of mess. (I grew up cleaning bathrooms that were used by 6 brothers; I adore my husband for this personal choice of his.) I guess in a rush, he occasionally uses the urinal and he chose to do that. He hung his cane on the stall wall and did his business. And then THE Fall. 

Mon Amour's hypothesis was he fell trying to grab his cane from the stall wall because it was found flung on the other side of the bathroom. His shoulder and side hurt for days after the accident, and he thought he'd pulled muscles from the cane's resistance as he fell.

But I have a different guess. When first asked where he was, all he could recall was "I came in here to wash my hands" (which he no longer remembers saying). So we think the fall happened just after he washed his hands. While his pants were buttoned, his zipper was down when we found him. I think he realized he needed to zip his pants after washing his hands. Maybe he realized it while grabbing the cane and the sudden stopping of one action to do the other action made him lose his balance. It's happened many times before. Maybe he had or hadn't grabbed his cane and he lost balance trying to focus on zipping, because he has lost his balance many times just standing in one place and focused on any task other than standing.

In any case, he hit his face on something on his way down. We all assumed sink because it was most prominent to be hit and matched best with his "washing hands" comment. But there is a possibility it could have been the urinal (and why he was immediately prescribed antibiotics at the hospital). He lost consciousness after the hit. He was found by one of those teenage boys I saw going in to the building. Mon Amour remembers vaguely seeing a boy's face for a moment and then nothing. The young man immediately got a Brother from the ward about to begin, and this Brother got Brother Doctor to come with him. 

When they first asked him his name, he couldn't remember. Eventually he was able to tell his name. He didn't know where he was at first, then eventually made the washing hands comment. Once they were able to figure out who he was, they looked me up in the ward directory to give me a call. Of course, I didn't have my phone, yet. But I came in soon after that. I didn't focus on the bathroom as a whole, mostly Mon Amour sitting there, but my brain picked up that there was a lot of blood. Brother Doctor estimated that he lost a liter of blood. He said they were working on stopping the bleeding. Brother Doctor then said it was my choice, but he recommended taking him to the emergency department since he had lost consciousness. I needed to take the kids to someone to watch them, so they said they would clean him up a little before I got back. And we opted to drive him there rather than calling an ambulance. 

We found a friend who was able to watch the kids last minute. We got Mon Amour into the van. Brother Doctor followed behind in his vehicle and helped me get Mon Amour into the ER, checked in, and such. I'm very grateful for his calmness and his knowledge, as both Mon Amour and I were in shock. Once we were settled and being seen, Brother Doctor left. ER doctor sewed up Mon Amour's torn frenulum and stitched up his right eyebrow and bridge of his nose. Our ward leader ("bishop") and one of his counselors who is also our ministering brother, came in to check how things were and gave him a blessing. 

We were blessed throughout the whole experience. How soon he was found at church. My friend being able to watch the kids. Brother Doctor's involvement. That a maxillofacial surgeon was actually in the hospital at the moment and was able to not only come and consult the CT scan, but schedule us first thing the following morning. So blessed that my mother-in-law who lives 90 miles away was visiting family only 35 miles away and available to come up to us and stay with us a couple of nights to help me with Mon Amour and the kids. Blessed to find a pharmacy open when we got home to fill his pain meds. Blessed that for the first time in his life, Monkey #5 finally slept a whole night without needing a parent in the room so I could stay near my husband on the couch and help with all his needs. Blessed that Mon Amour was able to recover within a couple of months, including after his maxillofacial surgery and that the teeth righted themselves well.

Mon Amour's (Very Verbose) Health Journey So Far

When I met Mon Amour in 2016, he walked with a slight limp. He never commented on it nor said he was in pain from it. I didn't want to pry too much while we were dating as I worried that might come across as me finding random flaws in him. I was simply curious if he'd had some kind of accident or injury. I even asked if something like that happened in Tae Kwon Do when he was a teenager and he said he never experienced any injuries.

It was probably a couple of years into marriage when he was talking to me about others commenting to him about his limp that I said I'd noticed it since we met. He was surprised. It was not something he had noticed in himself ever before. It's only in the last few months that his family members have told me he didn't have the limp when he moved away for graduate school in 2013 but that he had it when he returned in 2015. So the limp has been in the last ~10 years.

Our daughter was born when we had been married 1.5 years. She was born with Congenital Diaphragmatic Hernia. 1 in 2500 babies are born with this defect, and it is estimated 50% survive. One of my blogs is devoted to her journey. She has been very blessed in her journey of survival, and is a warrior with unknown battles ahead of her for the rest of her life. But she had quite a few battles in the beginning, and our focus was on her health. We knew we would spend her first several winters in isolation to protect her immunocompromised system and allow her extremely weak, underdeveloped lungs time to grow and strengthen.

When Covid-19 started spreading to the USA in 2020, we had already been in her 2nd winter of isolation for 4.5 months, ten weeks of which I had suffered from a prolonged miscarriage. We were mentally and emotionally looking forward to almost being done with isolation. But we saw the signs and my husband moved to work from home a week before our country shut down.

Our isolation went on for 3 years, very strict for the first 2 and then quite slowly and cautiously easing back into society the 3rd year. In that time I had pregnancies #4 and #5, navigated #3's developmental delays, and learned the stressful world of food intolerances with #4 (and later #5). Mon Amour had so much on his plate working from home while trying to be patient and supportive with all the emotional and mental struggles I had during these years as well as our kids' medical needs. Neither of us was really noticing or paying attention to what was happening with him. 

Mon Amour was required to return to in-person work the fall of 2022, which included his hour+ commute that involved a lot of standing and walking. Halfway through 2023, we started going back to in-person church and trying out a few more social situations. Many people from work and church commented to each of us on Mon Amour's limp being much more severe than they remembered and that his speech was slurred. I had noticed the increased limp and chalked it up to our mattress we got when we married; it never agreed with him. I thought the limp might also be contributing to some of his stumbles and trips because he seemed to suddenly start doing those. I had not noticed the slurred speech. It was months before I picked up on that, but everyone else was worried he'd had a stroke or suffering from something like multiple sclerosis or muscular dystrophy. 

Family especially started to speak concerns to us as we were able to spend more time with his family than we had the previous few years, and several of my family member's saw him at my brother's funeral in January 2023. He was getting put out by people talking to him but especially to me about his health. I guess he felt it was talking behind his back? I explained it was people who cared about him. I'm not sure what finally got to him, but he knuckled down and found a PCP in fall 2023. The first thing PCP did was order an MRI to check if there had been a stroke. Nothing was found on the MRI which was done December 2023. What I didn't know until the following June is that after the MRI, Mon Amour's PCP recommended he find a neurologist. But because he didn't understand how insurance works, he was frustrated with his PCP thinking PCP had lied to him and didn't follow through. I went months thinking his PCP was terrible about follow-up. 

In March 2024, I decided to take my own measures and sought out a new chiropractor since ours retired a while back. I wanted one who would take an x-ray since I had suspected for years that Mon Amour had scoliosis. We found a chiro whose upper xray showed scoliosis in his neck. Chiro set up a 3 month intensive treatment plan to help with neck, the limp, and the misligned hips Mon Amour has had for years. Chiro was new and did not work with insurance, which meant we were paying a huge chunk from our savings for this. I wouldn't have minded except 2 months into treatment, I asked my husband what the end goal was and he just shrugged. This was going nowhere! 

Up to this point, Mon Amour's obvious symptoms that we were focused on were trouble walking, trouble standing, slurred speech, and starting to have more stumbles or falls (though he didn't relate to me as many as he was having because he didn't count all the times he would catch himself before going all the way down). As the symptoms seemed to increase, I started to look back on when symptoms began because it was the number one question every person would ask us. We're still unsure about exact dates, and several things took us time before we started to say, "maybe this is a problem that should be looked in to, or maybe this is connected to that." I think I can date some of my unspoken worries truly kicking in when he was standing, holding 5-week-old Monkey #4, and fell into the Christmas tree. It triggered a huge part of my anxiety that never quite went away any time he held any of the children. I was also noticing behavior changes, though I associated them with his job which had become an extremely stressful and toxic environment for him since his forced return to the office.

We had a family reunion on my side in June 2024. It was a long, arduous trip for me as Mon Amour's symptoms seemed to be much worse than they had been a year before and he was not able to be of much help to me with traveling cross country with all 5 children. I really wish we had known what we began finding out later that summer, because the knowledge would have made so many things more understandble and thus easier for me that trip. But the good thing that came out of it was my brother-in-law, whose business is involved in healthcare, was able to talk to Mon Amour and Mon Amour actually listened. The biggest takeaways were "find a neurologist" and "you need genetic testing." By then, with stroke ruled out, many of us were thinking muscular dystrophy. But anything we suspected still needed a neurologist. That's when Mon Amout admitted to me that PCP recommended this back in December. Still makes me kind of angry about all of those "wasted" months, but maybe it was the time needed.

Three days after we returned from the reunion, he was fired from his job. It was actually two specific people who brought this about. They basically summed it up on performance issues, though they never really gave him a fair chance to explain or be understood (since he was a computer guy and they were academics who knew nothing about computer programming and deadlines). It was a huge blow for him, though within a couple of weeks we were able to see great miracles come from that. First, that's how he realized just how toxic his job had become and how much unhappiness and stress it was bringing. Second, the HR lady who was helping him pack his office noticed something was off with his health. She called us to come back another day to meet and she suggested we apply for the long term disability their insurance offered. Gratefully, after 2 months, we were granted this disability which kept our exact insurance and provided 70% of his income. It would be a very tight stretch, but so grateful it was something. HR lady then voiced what the third miracle would be: "focus on your family and your health right now." 

Without work, we were able to focus on finding medical answers. PCP tried to be as helpful as a general practitioner can be, but I felt a little like we were a chicken with our head cut off going to one specialist who checked one thing and ruled it out, then another who took a bunch of blood to rule out one more. Though we like our main medical network, I was tempted to seek help from a nearby university's medical network because they are a well-known medical school with great services. When my uncle, who was diagnosed with his health issues from this university medical network, strongly suggested we try to get in with them, I looked up the neurology department and submitted a request to be seen there. 

Because falls were increasing, we asked PCP for a referral to a physical therapist. Mon Amour started that in September. Saw one therapist twice before therapist referred us to a neuro physical therapist who could do more work with him. New therapist has been great working with his symptoms, though she said she could only do so much without a diagnosis, which is understandable. It is she who clarified to him that even a trip or stumble that you catch yourself before going all the way to the floor is considered a fall. Which would probably mean his number of falls were much higher than I was noticing because he was only telling me of the falls where he ended up on the ground. 

At this point of his health journey, Mon Amour had come around significantly to recognizing and accepting the many symptoms indicating health issues. But as any healthy person who suddenly has unexpected and undiagnosed limitations, he resisted in some things. For example, he had been prescribed a cane in July. But he half-heartedly used it, and all the while I felt he needed a walker of some kind. When PT asked if he would use a walker, he flat out refused mostly on the grounds of "how he would be perceived." He had already begrudgingly used an electric scooter at the 2 amusement parks we went to on vacation, but only because of his aunt's support and insistence when I had made that decision. 

PT went along with his choice to not use a walker even though he was exceedingly wobbly with a cane. (However, we did learn that a cane actually takes some practice to figure out correct usage!) Still, PT often said, "It only takes one good fall to be a bad one." We'd already had 2 significant falls in the autumn. One he fell straight back (he was counting on a door to stop the fall and it didn't); he hit his head and we stayed awake for several hours worried about concussion. With the second fall, he was carrying Monkey #5. Mon Amour hit his head on something to avoid landing fully on #5. It took us a while to step the bleeding from his head wound amidst worries from #3 and #4 and non-stop crying from separation anxiety and now scared #5.

In early October 2024, after waiting 2.5 months for another neuro appointment with a different specialist through our original network, the university network contacted us with a last minute cancellation that found us packing up the 3 kids and getting to the doctor's office immediately. Even with the chaos of the kids, I felt so good at that appointment. I felt this neurologist wanted to start at the beginning and knew enough to cut out some of the roundabout tests my husband had already been subjected to or had suggested to him. Dr Neuro immediately wanted a new MRI as he said the 1st was very grainy and surprising that they only took it to check for stroke and nothing else. He also gave us a head's up that it looked like multiple things going on and that there wasn't just going to be one cover-all diagnosis.

Meeting with Dr. Neuro helped us fully focus on the "maybe this is connected." From questionnaires we filled out and questions he asked, we started looking back throughout his entire history and adding everything that could be seen as out of the ordinary. Some were things we had commented on casually in marriage because he often had hip or leg pain from sleeping on the mattress-that-hates-him or walking/sitting too long during his commutes or work situations. Things like his left side always being difficult for him as a teenager doing Tae Kwon Do, but he chalked it up to how a teen body could be. We made sure to put e.v.e.r.y.t.h.i.n.g down so that nothing got missed, just in case it could be connected and would help find answers. We listed the random spasming leg in his sleep, his exceedingly dry eyes that had led to cornea issues, his extremely hyper reflexes in his legs, the stiffness in his left hand particularly with typing, his monthly bowel issues not connected to anything he ate, and his occasional incontinence accidents because his body didn't give him enough time to get to a bathroom after it suddenly indicated an urge to go.

So, the MRI was scheduled for a month later. In that month of waiting, I took a selfish but very much-needed get-away with my mother and sister. One of our closest friends came to stay at the house to help with the kids and be there in case something happened to Mon Amour. Some people thought I was over-reacting about not leaving him on his own as the only responsible adult. But after the falls and worries from other symptoms, it made me feel better even if I started to question myself if I was over-reacting. I don't think I realized just how much Mon Amour had been falling until on that vacation I startled at and turned toward every sudden sound. I suppose I should have expected it after so much bruising, bleeding, and breaking of dishes and furniture in the last 2 years.

A week after I came home from the vacation, Mon Amour had THE Fall at Church that required an ER visit, stitches, and maxillofacial surgery. He couldn't get off the couch easily for over a week and finally gave in when I asked a church member to get him an old walker from a consignment shop. It isn't the easiest to use in the house, so since he healed from THE Fall, he uses it anywhere out of the home and his cane inside the home. PT tested him on a rollator (walker with wheels) and it is not stable enough for his needs.

The MRI was a week after THE Fall. When the results came in 2.5 weeks later, we met with Dr. Neuro to discuss findings. I won't go in to the minor things that we haven't even begun to look at right now. The main thing is that Mon Amour's cerebellum is "smaller than it should be for his age." We can't compare it to the previous MRI because the image was so bad. But the condition is known as Cerebellar Ataxia (CA). It's not considered a common condition, though after joining a CA Facebook group it feels like a lot of people have it! 

Dr Neuro said there are so many different things that could cause CA, generally in 3 categories: toxin, metabolic, or genetic). Toxin essentially would be alcohol, which makes sense as his symptoms make him seem like a permanently drunk person. But as he's never drunk alcohol, that one was ruled out. Dr. Neuro had a lot of blood work done to check metabolic. From what we saw of results, nothing seemed out of the ordinary.

Then came the genetic route, which Dr. Neuro warned us could take some time. It involved speaking with genetic counselors, having a basic genetic test done, applying for funding for the whole genome sequencing test, and handling the miscommunication that we were supposed to have a tri-test (meaning testing his parents, too) and where those tests were supposed to be sent. Medical stuff is always a waiting game, so this was the next part that took 5 months. 

At least we had answers as to what was happening even if not the why. We spent the waiting time going to physical and speech/swallow therapies, recovering from THE Fall, and letting his top teeth heal. We also looked in to his possibility of having sleep apnea since I had learned about some of its symptoms and saw that Mon Amour had those. A sleep study in December revealed mild sleep apnea and he has been using a CPAP since mid-January. Several of the apnea symptoms have improved, but it's still quite a learning curve with that CPAP mask. We also asked for him to have the full, 3.5 hour long neurological cognitive evaluation. Some things they could not analyze since it was his first evaluation and nothing else to compare to. But they were able to see that Mon Amour has difficulty with maintaining new information and struggles a little with executive functioning. 

So, that is the very verbose summary of Mon Amour's health journey up to today's genetic test results coming in.

Our Family

 For those visitors who did not know our family before this new bend in the road began, here is a synopsis of who we are as of today.

LDSJaneite or Mum: Me. Early-40s. 7th of 8 children. Former Youth Services Librarian now Homemaker, Homeschool Mum, and Caregiver. Lover of Lasagna and Oreo Milkshakes. Interests: reading, writing, singing, playing piano, period dramas, theater especially musicals, playing games, dancing, and snuggling. Outgoing Introvert.

Mon Amour or Daddy: My husband. Almost 40. 1st of 8 children. All things computer whiz (he would have more specifics on what that entails). Lover of (almost all) Pizza and Ice Cream. Interests: Learning All The Things, playing games, reading, writing, taking walks, strategic stuff, fellow family interests (like Anime and Starcraft), and snuggling. Outgoing Ambivert.

Monkey 1: My husband's oldest child; my stepdaughter. 13yo. Just finished 7th grade (public school). Outgoing Extrovert.

Monkey 2: My husband's second child; my stepson. Almost 10yo. Just finished 4th grade (public school). Outgoing Introvert.
 

Monkey 3: Mon Amour's and my 1st biological child together. 6yo girl. Just finished Kindergarten (home school).

Monkey 4: our 2nd bio child together. 4yo boy. Just finished Year 2 of Homeschool Preschool.

Monkey 5: our 3rd bio child together. 2yo boy. Soaking up all the learning all around him. 

*Some of the countless reasons why I got the most amazing man for my best friend and husband:

He gives me occasional flowers, tater tots and french fries, foot massages, frequent hugs. 

He watches period dramas with me as well as so many other shows and movies we've shared over the years.

He endures the house I leave in utter chaos trying to keep up with the kids. 

He has endured me as the last few years have seem me at my worst emotionally, mentally, stressed-ly.

He engages me in interesting, intelligent, and different kinds of conversations. 

He shares what he is learning.

He asks about my day. 

He texts me throughout the day. 

He is just all out amazing and wonderful. With him at my side, we can make it through anything--including this new change in our journey.

We've Done This Before Haven't We

Some readers of my other blogs may think this seems familiar. Didn't I start a blog when my daughter was diagnosed in utero with Congenital Diaphragmatic Hernia? Yes, I did. It was such a helpful tool for me then, that I decided to use it again. I had considered just adding to that blog. But there are enough differences and reasons that I felt a new blog was needed. Hence the Part Two of the blog's name. And if you wonder about the blog address, it's a two-fold meaning where "his" refers to my husband as well as My Savior.

Welcome

 I love writing. It helps me process as well as record. And my typing fingers keep up with my brain better than my handwriting fingers. So I resort to blogs. A lot of blogs. With a new thing in my life comes a new blog to process. So, welcome to my 14th blog!