I had a better mental day today, physical kicked my but!
No flash backs, and was able to really sit down and talk with Stuart.
My allergies are out of control! It appears I’m now allergic to my cat. It’s so hard. I’m determined not to re-home him, but I have to find an antihistamine that works! The pharmacist told me about a prescription one, I’m going to ask my doctor.
If this doesn’t work I’ll see if I can find someone to bathe him, or shave him. Anything!!
Right now I’m spending most of my time in the casita (my studio I rarely use, but that’s a different story). I’m lucky I have somewhere to go, I have a much higher understanding and empathy for those I know with a cat allergy.
It’s late again, and I’m awake.
Not the same reason, thankfully.
I’ve been having vertigo on and off all night. Waking up in the middle of the night with vertigo really sucks!
So I’m scared.
I got the latest COVID booster and my first shingles shot (I didn’t know it was a two shot vaccine… Ugh). My shingles shot side is already so sore I can barely use my arm. The other side isn’t bad at all, I feel it, but it’s minor.
Oh I did a little bit of art today, that was nice. Not finished, and I’m just covering some boxes with a mixture of torn newspaper background, with paint added in a decorative fashion. Some intuitive art.
I also sent a special complaint about the security guard. I strongly incouraged them to give their security personnel better training on how to deal with patients, especially disabled patients, with an emphasis on dealing with invisible disabilities.
I didn’t say it, but the way I worded it let them know I’m an advocate for myself and I’m not afraid to have his they deal with the ADA investigated.
I may be afraid, but I’m still strong, and brave.. even if I don’t always feel it.
Today has been just a bad day, an emotionally turbulent day.
I’m afraid to go to sleep.
Reading hasn’t been helping.
Are you ever afraid to sleep?
I’m afraid he’ll be back. That security guard looming over my bed, saying things I can’t understand. His face contorted into hatred. It was obvious he didn’t believe me when I said I’m deaf, but I couldn’t hear him. I found out later he said “You we’re just talking with them!”
Does me talking mean I understand their words? Does me saying “I Do Not Understand” , mean I can hear? I could see their actions, I commented on them, does that mean I heard them?
No! No it does not!
For a while after I got home I had nightmares. I was afraid to sleep. Today my emotions were in a bad place. I feel useless.
A vestibular migraine looming over me for a month, makes things worse.
I’m causing more issues for Stuart.
I’m overwhelmed with guilt. I’m hurt I’m sad.
I’ve been pushing it down, but tonight it’s back I’m afraid
Are you ever afraid to sleep?
I’m 59 years old and I hurt all the time For 30 days I’ve had vertigo every day. I’m losing muscle tone My thighs seem weak. If I’m like this at 59, how will I be at 69? 79? Do I even want to know?
Each night I make plans for the next day, it all rarely happens.
My quality of life stinks. It has for a very long time.
I’m so very grateful for my amazing support I’m privileged. So why am I so sad? So mad!? So scared… all the time.
Are you ever afraid your life will never get better?
Are you ever afraid?
Do I deserve to be treated the way I was at the hospital?
Please don’t say I need to do more about this. I don’t have the energy, and I don’t know their names. An official complaint has been made. My only goal is to help prevent this happening to someone else.
I’m baaaack! Whew, I didn’t mean to be gone so long. I actually did write a post during my absence, but, silly me, I forgot to hit “Publish” and it’s out of date now.
Let’s see what was going on when last I left you?
We were getting ready to move into our house. Check, that happened; there are still plenty of boxes and there is actually more to move from Stuart’s dad’s house, but we are in OUR house and it feels good, even if I’m extremely exhausted and flaring.
I had hopes that the nerve block injection I had in my neck was working, but it didn’t. I had a couple of good days, but I think that may have just been good days because it sure didn’t last. I saw the pain doctor again and I had an occipital nerve block on the right side on December 30th to hopefully help with my migraines. I actually do think this one is working. I have had migraines since the injection, but they did not start in that area. That’s great, because a LOT of my migraines do start in that area. It hasn’t been long, but so far I’m hopeful. I also had an x-ray of the thoracic region of my back and it showed no damage; I have to say I was surprised. I have so much pain in that area, and it feels like it comes from the bone. I’m happy I don’t have problems there, but I do wish I knew what the heck is wrong. It’s really hard when you can’t have an MRI. She also wants me to have a nerve conduction study to see what may be causing my arms to go to sleep since the nerve block in my neck didn’t help. I’m not looking forward to that test, it’s not very comfortable (to say the least), but hopefully it will provide some answers.
Right after my last post I had a severe gastritis attack accompanied by severe diarrhea (literally crapping my pants over and over. yes, I know, TMI). I had my yearly physical right after that and my doctor thinks I may also have diverticulitis. I’ve been referred to a gastroenterologist, but haven’t heard from them yet. The day of our move I woke to the all too familiar feeling of gnawing pain in my stomach, luckily it didn’t escalate to a severe gastritis attack, but it was a very uncomfortable day.
I can’t say much about the holidays because it is just a blur. I know they happened because of all the decorations in stores and specials on TV, but boy oh boy we sure didn’t have time to celebrate anything.
So now I am ready to say goodbye to 2019, and face 2020 with renewed hope and wonder. I plan to take each day as it comes, have more fun, and take things less seriously. I’m not going to make up a bunch of resolutions I probably won’t be able to keep, but I do want to face this year feeling a bit renewed. After all, I just moved into a new house, my life is drastically changing. I’m going to be changing places I normally do my shopping and even some doctors…because we now live on the other side of town. So much is changing, there is no need for me to make resolutions, things are just going to change naturally. However, I do plan to make some short term changes throughout the year. There are some things I want to try so I plan on doing some 30 day challenges for myself, perhaps some of them will last longer, I’m sure some won’t last the whole 30 days. For example, for 30 days I want to eat vegetarian, to meditate daily, to journal daily, to draw daily, to not eat out, to not buy anything new except food… Well that’s 6 months right there! I’m not going to be hard on myself if I can’t keep to these things, but I feel like if I put a short time frame on it then I can just try it out and see if it’s for me, who knows it may be something I just love and will keep doing forever, or it may be something I hate and quit in a week, no pressure.
I think that’s enough to get things updated and to get me writing again. It has been one crazy busy month! Not only have we been moving, during the holidays, I had 1-3 doctor’s appointments each week. It’s time to slow down and get this year started.
Happy New Year everyone! May this year be filled with love and happiness for you all.
I’m still pinching myself, I just can’t believe how much has changed recently, and all for the better. Wow…just Wow.
I’ll start with the best news first, we close on our house on the 19th and we move in on the 20th! Yes, we will be in our new home before Christmas! I’m so excited I could squeal! and I probably have! hahaha We found the cutest house in the nicest neighborhood, I just adore it. It’s not exactly what we were looking for, but I just fell in love as soon as we walked inside. The neighborhood is focused on sustainability. The houses are all energy efficient, the neighborhood has a lot of walking and bike trails, it has it’s own coffee shop, and a few other little shops. It has the greenest school in the country that also ranks very high academically. It’s beautiful. The house has enough room for us and Dad, without being too big, and it has a little casita (a detached guest suite) in the back that’s going to be my studio. And I’m going to plant a lemon tree right outside my kitchen window. Perfect.
I’m able to enjoy all of that because my antidepressant is working better. I still haven’t gotten the approval for the ketamine, but we increased the dose of the Fetzima and it is helping more, I still feel like I have this black cloud over me, but it isn’t dropping buckets of rain and hail on me all the time. I can see the sun, maybe even a rainbow.
I’ve also had a few migraine free days. Yes! I really said that! The days aren’t consecutive, but I have had one here and there. I normally do not wake up with a migraine now, I get them in the afternoon usually. I’m not having as many severe migraines. They are normally moderate in intensity, when they are severe the severe stage doesn’t last as long. For example, I might have a migraine that last 9 hours, 2 of them will be severe. I did have a severe day one day this week, so it still happens, just not like it was. It looks like the Aimovig is doing something. Yay!!
The nerve block I got in my neck started helping, not completely, but I have been waking up most days without my arm being asleep or aching terribly. Every once in a while it will happen, but most of the time nope, it’s good. My follow up appointment was rescheduled because my doctor was sick, so I don’t know what the next plan is, I’ll find that out soon.
I had planned to post much more often but I’ve been so busy with all of the house stuff, doctor appointments, holiday stuff….I am so busy! I will try to post more soon, but I can’t promise anything, the next few weeks are going to be crazy busy! I have a lot of post written in my head, I just need to type them up.
Not everything in my life is perfect, but I’m feeling so much better I can’t think of a better way to close out a really crappy year and start 2020.
I met someone yesterday who touched my heart, she cleaned my house, but that isn’t what made her special.
Since I’ve been having this flare I haven’t been able to keep up with the house cleaning so we decided to have someone come in to help out. I was looking on the Nextdoor site and saw where a neighbor was asking about a cleaner for her home, several people answered her but one person’s comment struck me more than the rest so I messaged her and asked if she’d be interested in helping us out. Lucky for us, she said yes. That’s how we met Lennie.
After several texts back and forth we set up a date and she came over yesterday. When she came to the door I felt I would like her instantly, and within the first 5 minutes I knew I was right. Her smile lights up her face and she is genuinely warm and friendly. We have a sign in our front yard, I posted a picture of it on here before, it says things like “Love is Love”, “No Human Is Illegal”, “Science Is Real”…. This sign means a lot to me. It says a lot about what I believe in, and who I am. When Lennie came in she mentioned how much she loved our sign, she said she saw it and thought “These are mine kind of people.” I gave her a high five.
We chatted some as she went about her business. She knew from our messages about some of my health issues, but I didn’t know she had a few. Her illness was not supposed to be chronic, but it did have some long term complications. She really understands going through a long ordeal before being diagnosed.
The main thing I really wanted to write about was how she reacted to my hearing loss. When she found out I lost my hearing just a few years ago she first asked the same thing everyone else does, “Do you know sign language?” I wonder why that’s the first thing people ask? You know when you are not immersed in a language it’s hard to become fluent in it, especially at my age. Taking a class when you are fighting vertigo and migraines on a daily basis is almost impossible. Absorbing a foreign language while dealing with those? Well I haven’t been able to do it. But anyway, after we discussed all that, I promise I didn’t say anything rude, she asked me something no one else ever has: “Has losing your hearing been difficult?”
My first instinct was to say “No”, and just brush it off. I started to say that I thought it was more difficult for Stuart, but then I stopped. I looked at her and felt tears well up in my eyes, “Yes, yes, it has been very difficult.”
I was taken aback by the fact that she asked, and genuinely seemed to care. No one has ever asked me that before. I’ve never gotten the impression that anyone has felt that it has been very difficult. I think some people see that I have some challenges, but I don’t think they understand how difficult it is, and I think it would make them uncomfortable if they knew. I think a lot of people think my cochlear implants “fixed” my hearing loss, and others think I’m really good at handling it. Truth of the matter is, it’s extremely difficult, my CIs are far from perfect, and I think I handle it pretty well but that doesn’t mean I always understand what the heck you’re saying or that it’s any less difficult.
Meeting Lennie made me realize that I can still make connections with people in the “real world”. It may still be difficult to nurture a friendship when I can’t drive and may often have to cancel things and I can’t hear in many situations…but Lennie made me want to try.
You never know what kind of mark you may leave on a person, try to make that mark a good one. Look what Lennie has done for me.
(I will try to post about some of the difficulties I have dealing with hearing loss soon.)
I’ve been trying to write a post for weeks now, but I just haven’t been able to get the words to come out. I had a CTA scan of my head and neck on July 26th, that’s a CT scan that shows your arteries. I had planned to post about it, to show you the awful bruise the contrast caused, and tell you how I freaked out when the contrast hit me, but I was actually ashamed that I felt that way. They had a hard time finding my veins, as usual, and I, once again, felt ashamed that I’m difficult. I had a bit of a reaction to the contrast and had a very debilitating migraine and nausea for days. I couldn’t write, I couldn’t do anything. Lorraine was nice enough to do a Mindfulness Monday. I’m ashamed I haven’t written since then.
I feel that I have needed to write and tell you how I’m still struggling with the migraines, how the medication isn’t working, and how I can’t accomplish anything really. But I’m ashamed that I’m not better. I’m ashamed that I keep trying different medications and they don’t work on me. I feel like I’m failing. In our culture we are expected to take a drug when we get sick and get better, if we don’t get better then we aren’t trying hard enough. We should change our diet, exercise more…. You see the stories all the time, how someone beat this or that disease by doing these things. We are expected to fight our illnesses and get better, when we don’t we often feel shame. Or at least, I know I do.
With my migraines everyone has a solution. So many people have or know someone with migraine, it isn’t rare, but chances are it’s episodic migraine not chronic migraine. I’m asked so often, “Do you take medication?” and it’s followed by, “I take (or so and so takes)______ and it works!” I want to scream, “Of course I take medication! I take preventatives, and abortives, and supplements, and I use alternative treatments! Nothing is working but I’m afraid to stop any of them for fear it will get worse!” But instead I feel ashamed that I’m defective. Not only do I have migraines, I have migraines that won’t respond to treatment.
Weekend before last we went out for breakfast with Stuart’s father at our usual place. I ordered a gluten free pancake, when it came I suspected it was wrong, but they have never gotten my order wrong before, so I took a bite. I knew immediately it was wrong. I was poisoned. I called the waitress over and asked and sure enough, it wasn’t gluten free. She apologized and I smiled and just ordered a new one. I looked at Stuart with huge eyes and he just said, there was nothing that could be done now. His father said, “it was only one bite” Stuart explained that it only takes a crumb. I should have told the waitress that I didn’t want anything else and told Stuart and his dad we needed to go home, but instead I was too ashamed. I ate that new pancake knowing that I would be sick within an hour or two. I sat there listening to them talk, while my head pounded, my stomach started to ache and get tight and my bowels started to rumble. I ended up having to rush to the bathroom there and it was obvious my stomach was distended by the time we left. I felt even more shame that I could not hide it.
I’ve never been one who is ashamed of my cochlear implants, I know a lot of people like to hide them, but I like for people to understand that I have hearing loss, because I do get ashamed when I have trouble understanding people. I sit and “listen” to conversations, but I often don’t “hear” them, and I’m too ashamed to keep asking for people to repeat what they say. After you are told over and over that it’s not important, you start to believe it, so I don’t worry about it. Then I get more ashamed when I miss things that I needed to hear.
Yesterday I had a very bad day. I woke in so much pain, but more than that when I’d stand I would see stars and I’d start to black out. I asked Stuart if he could work from home, but before he could answer I told him no, I’d be okay, because I was way too ashamed that I needed him. I was not safe, but I was too ashamed to admit that. Last night was the first time I told him how I felt. Now he is afraid he has done something to make me feel ashamed, and I feel shame that I’ve made him feel this way. I’ve explained to him that it’s complicated.
I’m just coming to terms with these feelings. I’ve tried to put a label on this before and called it guilt, but that wasn’t right, it’s shame. Guilt is feeling that you’ve done something bad. Shame is feeling that you are something bad. So, yes I feel guilty about asking him to work from home because I don’t want to take him away from work (doing something bad), but I also feel shame about it because I am ill and have to ask in the first place (am something bad).
Do you have these feelings? This will be a major discussion coming up with my therapist. Shame is not a healthy emotion, this is something we need to battle sooner rather than later.
After the long day I had yesterday I was not surprised when I woke to find my symptoms had increased today.
My migraine pain fluctuated throughout the day between a 6 and a 9. The cognitive issues and fatigue increased. I’m so grateful I can get medical marijuana, it’s the only thing that is helping my pain right now. It’s far from perfect, for a number of reasons, but if I hadn’t had it today there’s a strong possibility I would have gone to the ER for help.
Since I’ve started keeping this journal, (yes all three days..lol..) each time I do one little thing I take a mental note of it so I can make sure to write about it. Because of that, I now have a list of my little victories for the day:
I picked up some dishes left in the livingroom and put them in the kitchen, started to put them in the dishwasher but, found I could only fit one in so I started the dishwasher.
I picked up a few things left sitting around the livingroom and put them away.
I emailed back and forth with my Advanced Bionics consumer specialist about my cochlear implant processors dying. Proud of myself for taking care if this without Stuart.
I fed my dog and gave her fresh water. (This requires bending over which is very hard for me today. Kiki would have waited for Stuart, but she would not have been a happy pup)
I started prepping for dinner. I cut the meat into bite size pieces, cut up the leaks, made the marinade, and put it all together. I even put all the stuff away and cleaned the knife and cutting board. (Stuart did the rest of the meal)
I brushed my hair. I brushed my teeth. I washed my face. I moisturized. I took my medication correctly all day.
There’s a number of things I didn’t get done, like get dressed, but that was so not important today.
Tomorrow morning I’m going to a painting class with my niece. I’m trying not to worry that I’ll have a severe migraine. I am determined to do this with her. I missed her birthday party, and this class was my gift to her. (She wanted to do something artsy with Aunt Wendy) I don’t normally feel like I have to push myself through no matter what, but I dont want to disappoint this child.
Please remember when reading this journal entry my cognitive abilities are a bit dulled right now. Also, This is the first time I’ve posted from my phone, I works.
Recap. Let’s see, when last I left off we planned to go to Charleston, SC in September for our anniversary; there was a possibility we might have to move; and I was getting a hair cut. Turns out none of those things are happening or happened.
Trip. After researching a trip to Charleston it just didn’t seem like the smartest thing to do this year. The trip was going to cost us more than twice what we had originally budgeted for our trip to New Mexico, I’ve been to Charleston hundreds of times, Stuart really has little desire to visit there, we weren’t going to be able to see as many people as we’d like and still have a romantic trip…there were just too many things that said this was not the trip for us. We decided it would be best to take a second trip to specifically visit with family and friends, and we are going back to our original plans of going to Albuquerque and Santa Fe to celebrate our 15th anniversary.
Move. I’m relieved to say that we do not have to move, our landlords have decided not to sell the house right now. The house has a pool and the best time to sell is during the summer, there are a few things they want to do to the house before selling it and they wouldn’t have been able to get it done in time to get it one the market for the pool season, so they have decided to wait. That is a huge relief. Soon we’ll be house hunting. That can be fun, and or ahhhh. Hopefully, it won’t take long to find the perfect home for us.
Hair I ended up not getting my hair cut. It ended up being a not so good day and I just couldn’t go. I had been up most of the night with nausea, and when I don’t sleep the next day is precarious. I haven’t made a new appointment yet. I have a case of the nerves about it now. As much as my long hair is hard to wash and gets everywhere, it is very easy to just throw it in a pony tail, and I’m used to it. I think I’m a creature of habit. What if I really mess it up? When I was younger I’d think, “It’s hair, it will grow back” Now, my hair is much thinner, and I’m not too sure it will grow back. Damn I’m old. hahahah
Migraines. I’ve been on the new migraine preventative, Emgality, for a month now. I was told not to expect a reduction in migraines the first month. I talked with others and most on the boards noticed some difference. Here’s my experience:
In February I had NO migraine free days and took medication for 10 days (the maximum number of days allowed) . In March I had 2 migraine free days and took medication for 10 days. This month, I had 5 migraine free days, and I’ve taken meds for 7 days. This may not sound like much of a reduction, but I haven’t had 5 migraine free days in a month in as long as l can remember. My maximum free is normally 2, and I always take the medication for the maximum allowed number of days. This week I actually reached for a rescue med at the first sign of a migraine, like you are supposed to, instead of waiting until it hit an 8, because I wasn’t afraid I’d run out of allowed days before the end of the month. I took my second shot yesterday, cross fingers for me that May brings fewer migraines.
Bipolar Depression. This week I broke down and started a new antidepressant. I tried hard to pull myself out of this funk, this sadness, this feeling of utter worthlessness, but I haven’t been able to. I told myself it was situational, it wasn’t me, and I could get past it if I worked on it. I’ve been working with my therapist and I do have things in my life that can cause depression, but the situations, and my coping with them, are getting better, but the feelings aren’t. It’s time for a little help. I’m having very mixed emotions about this and I’m not sure why. I feel like I’m always going to be a bit off anyway. I’m never going to be normal. I’m always going to be bipolar. When do I stop and just say, this is how I am and it’s how I’m going to be. This is my normal. Live with it. No more medication tweaks. No more added medications. But I want to feel better.
As most of you know I’m taking part in the Ten Things of Thankful challenge. Simply list 10 things a week that you are thankful for, but no worries if you list less, or a bit more, the point is to get everyone to notice there is something to be thankful for. If you’d like to join in, just pop on over to TToT and add your post to the list, I hope to see you there.
This week I’ve decided to get back to basics, I’m so very thankful for:
Water. I keep a water bottle on my bedside table so I have water through the night. In the morning my darling husband always fills it up before he leaves for work so I have a full bottle for the next few hours before I get up. On Wednesday he took the bottle to fill and forgot to bring it back, this really made me appreciate that he does this for me every morning and that I have water available to me so easily all the time.
Scent Free Air. I went outside to sit in the sun one day this week and a bush was blooming. It is beautiful and a welcome sight, but it had a strong floral scent, that would be pleasant to most, but I have migraines and am very sensitive to scents; it was an instant trigger. I was very grateful that I was able to escape it when I came inside. I’m thankful I’m able to have a pretty scent free home.
Electricity. I’ve been through times when we’ve had to live without electricity for extended periods of time due to natural disasters, it was not fun. The biggest obstacle we had was no refrigerator. Everything in our freezer that we couldn’t eat fast went bad and we had no way to store any food or to get much food to be honest. We had no hot water, and no heat or A/C. (one of these power outages happened during an ice storm) These are all things you simply do not think about when you have electricity every day. When power goes out for a short period you are inconvenienced because you have no TV, computer….but when you have no electricity at all, you are very limited in life. There are many people who have no electricity at all.
Eye care. I went to the eye doctor this weekend, I’m so grateful that I am able to have quality eye care. It is very expensive, especially for my prescription. If I could not afford it my life would be very limited.
A home. I’m grateful I have a home. Many people do not have a roof over their head. Every time I leave my house I see homeless. It breaks my heart. I wish I knew of a solution to our homeless problem in America. What we are doing now is not working. We cannot just ignore it. It will not go away, it is only getting bigger. We are one of the richest countries in the world yet we treat our needy so poorly. We should be ashamed.
Transportation. I’m grateful that I have a car to get around in, even though I can’t always drive, at those times I’m even more grateful that my husband is able to take me places. I’m very grateful that I was able to drive myself to an appointment this week, something I haven’t been able to do for a few months. I plan to do it again tomorrow too!
A warm bed. Many people do not have a safe place to sleep. I’m grateful I not only have a safe place to sleep, but I have a nice place to sleep. I can be picky about my pillow and sheets, I’m so grateful for these things.
A loving husband, dog, and friends. I’m so thankful for my support, the love in my life means so much to me. thank you to all of you.
I’ll close with that today. What are some of the basic things you are most grateful for. I’m sure I left out plenty. Like the moon and sun….so much to be thankful for in this life is we just look.
but right now I have a migraine and I’m going to be grateful that I don’t have to go anywhere and I can go lay down in a very dark room.
I hope your week is filled with things you can be thankful for.
Today is Rare Disease Day 2019. Normally when I post about Rare Disease Day I focus on my rare disease, but today I’d like to highlight a disease I’d never heard of before earlier this month. Actually no one had heard of it before 2016 when Okur-Chung Neurodevelopmental Disorder a rare genetic disorder was first identified. This is important to me because of this little guy, and other children like him.
Rowan’s mom has been a part of my chosen family for over 20 years, so when they found she needed to be close to a neonatal unit for the last trimester of her pregnancy we were all too happy to open our home to her, her husband, and their little Rowan on the way. This is their story told by my dear friend Penelope:
My son was diagnosed with autism 3 years ago at age 4. But from birth, we knew he was special. Now we know why.
Things became complicated in my 3rd trimester. I was hospitalized with high blood pressure and suspected pre-eclampsia many times, and was induced the day I passed the 37 week mark. My son was born with very low muscle tone, and what the doctors called “dysmorphic features”…low set ears and eyes with epicanthic folds. They immediately raised suspicions about Downs Syndrome and geneticists at the hospital ran the tests they had at the time, including for Fragile X. They tested his heart. They couldn’t find anything in their testing and we were sent on our way.
Feeding issues started immediately. Low muscle tone and reflux. We went to measures that included thickening formula with a special thickener that had to made at just the right temperature, and he was prescribed reflux medication by the pediatrician. Things began to improve at about 18 months.
Things on the social front were delayed and different. I remember crying on the way home from my son’s cousin’s 2nd birthday party. They are about exactly a year apart, so the birthday boy turned 2 and my son had just turned 1. At the party of similar aged children, it suddenly hit me how differently my son behaved. As the mother of an only child, it just hadn’t been so obvious to me before.
My son didn’t walk until 22 months, after 4 months of physical therapy. Then we focused on starting speech therapy since he spoke a total of 10 words at age 2. He rated very highly on receptive language but almost a zero on expressive language. We worked hard and he began speaking single words, then phrases, but would only speak at home with us and seemed unable to speak in other situations. Selective mutism was suggested as a diagnosis. We were told he had a slow to warm up temperament. We were given the “developmental delay” label and enrolled in preschool special education services. We did speech, play, and occupational therapies. Meanwhile, other issues my son had included slow growth, gross motor delays, social and emotional delays, toilet training delays, chronic constipation, periods of low energy, sensory processing differences, and avoidance of peers.
The diagnosis of autism at age 4, while difficult, was almost a relief. It felt like an answer. Something to explain all the issues we uncovered one by one and tried to provide the right support and treatment for. We tried a mainstream kindergarten public school experience for him, everyone seemed to encourage inclusion and bringing services to kids in the class and selectively pulling them out, but the problem with sensory processing and other issues of autism mean that some kids, like my son, will struggle with the distracting environment, large class size, and rough and tumble and strict standards of a public school. Luckily, we found a private school near our home that specializes in providing an outdoor focused arts based intimate environment for kids with autism and other conditions. My son is in a class size of 3 kids to 1 teacher, and the environment is peaceful – a nature hike every morning and classrooms with neutral walls and plain wood floors, very low distraction and individualized attention – and he has blossomed and learned in this school.
Meanwhile, as part of a business trip with my company (that makes medicines for rare diseases) I visited a geneticist with one of our sales reps. In that conversation in discussing rare diseases, the topic of autism came up and when she learned my son is autistic, she encouraged me to pursue Whole Exome Sequencing (WES), that amazing advances were being made. Since we’d seen a neurologist the month before for suspected petit mal seizures, we asked for this testing on our followup appointment. The EEG did not show seizures in the time period they tested, but the neurologist agreed to submit the WES testing, even though he was realistic with us that only a small percentage of those tested get a result.
February 8, 2019. The day I clicked onto the portal to see new test results. The genetic testing was back. The largest word on the page was POSITIVE.
My heart stopped for a second. I couldn’t swallow. I held my breath and for the first time, read “Okur-Chung Neurodevelopmental Disorder.”
Roller coaster of emotions ensued. Sadness that we hadn’t known this from birth – selfish in the way that it would have made the path and understanding easier for us as parents. Relief that we had an ANSWER. So few parents of children with autism get an answer. Excitement that we can participate in active current research. Amazement that our son will be on the cutting edge for genetic autism research. Fright that there’s so much they don’t know, and happiness that there is something that they do. A feeling that we are no longer shooting in the dark, and have some idea of what to focus on and check for and pay attention to in future.
So many things go through your mind when you find out your son has an ultra-rare genetic disorder that has only been found so far in 50 individuals worldwide. Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life.
Genetic testing is experiencing an advancement at rates so quick that my son’s genetic disorder wasn’t even discovered until 2016. Just a few short years ago, Whole Exome Sequencing tests were very expensive and inaccessible. As the cost decreases, more and more children, especially those with autism, are being tested. Which means more and more will be diagnosed with rare disorders and syndromes. This will be so important to so many individuals and families, providing supportive patient communities, gatherings, research, and even cures.