I’ve been holding something close. Partly because with everything we’ve been through I’ve not been able to fully process that there could be “more” coming our way. Partly because I’ve been so open in the past that I’ve also put YOU through a lot, and given how uncertain things are right now, the last thing I want to do is cause undue panic, spread something false, or cry wolf. So I’ve waited.
And I’ve prayed.
And I’ve researched.
I’ve sneakily polled friends and family.
I talked to pediatricians.
I more bluntly asked friends and family as concerns grew.
I prayed a lot more.
Then we started early intervention therapy.
I requested appointments with specialists.
We started test after test after test.
And while we’re not certain what IS happening, it’s become clear I’m not crying wolf. And I’m ready to tell you about it, because we can use the prayer warriors, and quite frankly I need a broader audience brainstorming.
Isabella is experiencing some developmental delays.
Our earliest signs were a resistance to weight bearing, and a lack of interest in mobility. That said, she crawled on time, then scooted really well. She was even really really close to walking! She could cruise across the living room pushing a toy on her own, and walk down a long hallway hanging on to just a couple of fingers.
Then she did those things less. Then she cried when we even attempted them. Then she couldn’t anymore. And now the fact she ever did them seems like such a distant memory I question it at times.
I’ve lived in a world where two sweet boys were never able to do many things. It’s sad of course, but we’ve learned to celebrate even so, and we love Landon (and Nolan ❤ ) for who they are.
But Isabella – our sweet baby girl – had felt like a healing gift to my heart. Her birth in 2017 was a bright light as we endured the loss of Nolan. Her presence has literally been transformative for me. And all along, not only due to genetic testing of Justin and I ahead of time, a thoughtful prayerful heart ahead of time, and what appeared to be a sweet little healthy girl from day 1, I’ve seen her as nothing less than perfectly healthy. So when things started to change. When her skills started to slip. When one thing after another came up unexplaned, it felt like a cruel trick.
My request is prayer. Prayer for healing above all else. But also clarity and answers and a plan. I’ll outlay all of the medical “stuff” below, and for those interested, keep reading. I’m not asking you to google things and send them to me. Trust me, if there were an internet doctorate earned by web time, I’d have one. I am interested in anyone who had experience with a similar story, maybe yourself, a child, a neighbor, a friend. A doctor who has had a similar case come through. What tests were helpful? What results were your best clues? What helped you arrive at an answer? Am I talking to the right people and asking the right questions?
I’m also praying for strength. I can handle a lot. I can keep up with the medical jargon, order medical supplies, advocate for good care, and love someone with special needs with my whole heart. I can thrive in the special needs community.
I know how to push two wheelchairs at once.
But I’m begging that Isabella’s future can be one of strength, ability, and success. That she can overcome this and have a great story to tell someday, while walking around confidently on her own two feet.
• I first mentioned resistance to weight bearing and lack of standing at 9 month and 12 month appointments. Hips were checked and seemed ok. Let’s revisit at 15 months. She’s developing fine otherwise and is within the acceptable range for gross motor.
• Somewhere in here Isabella stopped crawling and started scooting.
• We moved – talk to second pediatrician. She’s slowly regressing, but has also experienced a host of shocks. New home, away from me for a while, new day care etc. She’s developing fine otherwise. They were initially comfortable waiting until her 2 year appointment to revisit.
• Somewhere in here Isabella stopped scooting except for very short distances, and no longer wants to stand.
• Before the 18 month mark, the regression is now obvious. We’ve enrolled in early intervention, and requested an appointment with a specialist at Children’s hospital.
• Isabella is now having trouble with all mobility and her gross motor delays seem more wide spread. She sits well, but doesn’t like to reach high, hates weight bearing activity, and overall has pretty weak arms and legs. She can’t hold her head up while on her tummy any more. I’m fairly certain her posture is getting worse. Her fine motor skills are on track, her verbal skills are on track, and her language comprehension skills are amazing. But gross motor is officially way behind.
• December 2018 (20 months) we have her first specialist appointment. I went in with a list of auto immune illnesses in the family, suspecting something in the inflammatory family, possibly Ehlers Danlos Syndrome (EDS). If I’m reading her right, I swear it’s not just hard, it hurts. I think if we can just isolate what is causing the pain and fix that, maybe she’ll try again. Maybe with effort we can build strength again. Of course, I acknowledge we had to rule out Muscular Dystrophy (MD) because I can’t accept that as an option, and the PT had mentioned we should rule out Spinal Muscular Atrophy (SMA). But I entered hopeful of an explanation that didn’t break my heart.
• I left heart broken. Their first guess was Muscular Dystrophy. Her regression at this point when comparing current photos to those from months prior is now very obvious. Her arms and legs are very weak. (My takeaway here is if you ever see even mild regression of any kind, run, don’t walk, and yell until you have some testing performed. Specialists can take a while to get in to and you may lose valuable time!) Isabella left behind bloodwork for them to test for MD, as well as thyroid issues. They were to call me ASAP.
• I cried for a solid hour on the way home, then my phone rang. The team of doctors gathered in a room to call me and talk through results. It’s NOT MD. HALLELUJAH! It’s also not her thyroid. Shoot, that might have been easier to fix. It might be SMA. CRAP.
• Next steps were to test for SMA, because unfortunately that seems like the next likely diagnosis. Fortunately, they are on the forefront of diagnosis and treatment, and if we act fast, there are groundbreaking new treatments that are having an impact and improving the quality of life. Still heartbreaking that we were considering it, but somehow also hopeful that there might be an answer and that we were in the right hands. SMA is one of those you need to treat ASAP. A takeaway here is that if you can advocate for early screening in your state, you can change the life of impacted children and families. Early screening is crucial.
• Skip to the next appointment, only a few days later. We are now being handled by neuro muscular. They are fairly confident it is SMA, and they see SMA all the time, so it’s a well-informed confidence. We go ahead and perform the assessments required by insurance, so we can hit the ground running as soon as the test comes back positive. We discuss MRI and EMG being potentially helpful, but let’s not put her through that yet. Isabella left bloodwork for them to test for SMA. This could take a couple of weeks.
• A few tearful weeks later, we get a call. It’s not SMA. HALLELUJAH! There are still some very unlikely possibilities that make SMN1 sequencing worth pursuing, but incredibly unlikely. Next steps are a sedated MRI, a sedated EMG, and additional genetics.
ADDED She has an echo to prove she’s fit for anesthesia, the results aren’t mentioned so I’ve assumed they are normal.
• Isabella has a new symptom at this point – a persistent facial rash. It looks like a butterfly rash that is often seen with Lupus. She’s not regressing. If anything, we think she’s finally embracing some of the PT and exercises we’re doing, so she’s stable, maybe even seeing itty bitty improvements.
• A few weeks later, we’re back for the MRI and EMG. No doctor appointment at this time, just tests. I’ve mentioned the facial rash. Brain MRI is normal. The EMG shows chronic myopathic changes. I’ve requested an auto immune panel, but they firmly believe it is neuromuscular in nature. There are some “decent” options left. But also,some really bad ones. Some of the mitochondrial and metabolic life expectancies rob me of sleep.
• Next steps are additional genetic testing now that they have narrowed their focus. They order a saliva kit to be sent to the house. The bad news is Isabella doesn’t know how to spit. The good news is we still know how to laugh. After a long funny story, we eventually get this sample “extracted” and its results are still pending of as 3/1/19.
• In the meantime, the rash and my initial instinct are still lingering. Isabella also has a persistent rash on her knuckles. Her hand joints seem a little inflamed according to Landon’s nurse. Combine the facial rash, hand rash, inflammation, and perceived pain in her knees and hips and I can’t shake that maybe there’s still a chance it’s inflammatory/auto immune. What about Dermatomyositis? Can a one year old get Lupus? Is that even heard of? Does “likelihood” even mean anything to me anymore? Nope. Let’s pursue.
• I call the pediatrician and get a same day appointment with Nana along to help. I explain why I’m quite frankly hopeful it is auto immune so that it’s NOT some of the other awful things. We agree there’s a long list of reasons that auto immune could fit. They order Lupus, Lyme, urinalysis, and an auto immune panel. It’s not Lupus. It’s not Lyme. Her urinalysis was normal. But she has elevated ANA. We’re not sure what to do with that information, but it was enough that the Dr could refer us to rheumatology. We see rheumatology on March 13th.
ADDED: For a routine annual cardiology appointment (checking on a mild potential murmur) her EKG looks good. When I get to talk to the doctor and explain her growing story and the echo I heard nothing about, he takes a look at her results. He sees a very slight dilation in her aorta. He can’t diagnose but agrees this could happen with connective tissue disorders and likes rheumatology as a next step.
It’s NOT MD
It’s not her thyroid
It’s not SMA
Brain MRI is normal
EMG shows chronic myopathic changes
She has elevated ANA
Additional genetics are pending through Neuro Muscular office
Rheumatology appointment is scheduled.
Therapy efforts continue.
Gross motor delays and weakness, especially in arms and legs
Perceived pain in her joints
Persistent facial rash, as well as on her hands
Some signs of inflammation
If you made it to the end, let me know because you deserve a shout out!
Thank you for reading. Thank you for praying. Thank you for caring. Wouldn’t it be great if after all of this, she keeps working and climbing her way back and regaining skills? And we don’t get awful news? And the only explanation left is God’s healing power? I would tell that story loudly and often.
God, please let this be a story of hope and healing.