“Parents of children with a rare disease become doctors
without diplomas to keep some “professionals” from killing their kid with ego
and nonsense”.
May not be the most heart-warming quote, but made me
chuckle. I don’t think we’ve run into a doctor that has treated Riley that has
quite that much ego, but certainly more nonsense than I can count! I wish I
could say I was curled up with a glass of wine and writing, two of my favorite
things…but today Riley are in a 15x15 foot room while he gets his second round
of his bone density infusion. Won’t know for sure how well it’s working
(literally takes the calcium in his blood, and shoots it to his bones, where he
needs it, due to his high risk of fractures), until about a year in, after
another full body scan. But can’t hurt to try, he rocked the first infusion, to
have this one be a (LONG) outpatient appointment at least! Almost wish it was
inpatient…just to have a “comfier” chair…. almost. It’s planned, so I’ll take
that and stop complaining.
Now since I haven’t written in MONTHS…like 6+ (oops?), I thought
I’d keep this post more informational & refresh people’s minds as to Riley’s
condition, and provide the latest updates. Which, thankfully lately there hasn’t
been much, hence my absence. Not to mention Riley starting school and me going
back to work has kept us pretty busy. So, take a comfy seat, as this may be a
LONG post. And yes, I know I say that like every time.
I’m not writing about Riley’s condition today to gain any
sympathy, to make people feel sorry for us, or for any sort of attention. I’m
writing because it’s not something that is talked about often in its entirety,
usually just regarding a specific “symptom”, or people asking how he’s doing,
or just a small piece at a time. I think a lot of people don’t even know every
single piece of his puzzle, have easily forgotten a lot, or are too afraid to
ask. Never be afraid to talk and ask questions, we love talking about Riley,
all the good and the bad. Yes, the bad can be emotional and exhausting, but we’ve
at least learned when to speak up and tell you we either can’t or don’t want to
discuss it any further for the time being. Aka, I’ll tell you to shut up when
necessary. But, basically today is an education day, because I’m sick of so
much of him being a taboo subject, which I know I can’t easily change, but I’m
at least changing the taboo around him while I write.
Riley James Roberts was born a healthy baby boy in June
2013. He came after a VERY long and stressful labor, with the cord around his
neck, and quickly taken rather than given to me. I still think that moment of
hearing a nurse say the word “resuscitate”, is one of the worst moments in my
life. Yes, I was fairly drugged, but I heard that clearly, and immediately
flipped out. Thankfully he came around “quickly”, and things seemed relatively
normal for the first few months. Then we noticed he just wasn’t meeting those
typical milestones which lead to his first neurology visit, one of the other
most scary moments in our life. His first diagnoses, of many, was hypotonia
(weak/floppy muscles), at 6 months. Now, that could end up being not a huge
deal and you can “grow out of it”, or it can be a debilitating symptom of a condition.
For him, it’s the later. Riley has never sat on his own, had 100% head control,
crawled, stood or walked, and never will. However, beyond the big obvious of
this physical portion of his disease, he’s developed the following over the
past four years, since that first visit:
1.
Developmental delay – his diagnosis that helped
him start therapy through Early Intervention with Encompass, where I now work.
2.
Epilepsy – thankfully very well under control
now, haven’t seen a known seizure for a year and a half, thank you ketogenic diet.
And for those who think that’s a good diet for people to lose weight…really
pisses me off. Not the purpose people! Look it up with Epilepsy. His was so bad
at one point that he was having multiple minute long apneic seizures (where he’d
stop breathing), multiple times a week, then got in a cycle of every few
minutes, had to be intubated and then started the diet which worked wonders,
allowing us to take away 2 out 4 of his meds!
3.
(Extreme) Hypotonia – he basically has minimal
muscle control and strength, leaving him in a wheelchair, or some other chair
at home, laying on the couch or bed, and someone carrying him when needed. And
he’s a BIG 4 ½ year old now…roughly 3ft 6in & 45lbs!
4.
Osteoporosis – his bones are like that of a 90-year-old
man, I could be a twitch dramatic on that, but he’s a very high fracture risk.
He’s broken each of his femurs twice (once individually and once together), the
strongest bone in his body. Some weird movement could snap something, and we
always fear it’ll be something like a rib and have it do internal damage. Why
we are trying the Pamidronate (bone density medication), with the hopes it
helps at least a little, if anytime, giving us a bit more piece of mind.
5.
Dysphagia – Riley lost the ability to swallow
shortly after his first birthday. And it happened quickly, like in the span of
a week or two. He went from being able to at oatmeal, smashed bananas, baby
foods, etc., to aspirating it and having an NG tube put in. Which led to not
being able to control his own secretions either, then an ND tube, and finally
surgery for his gtube in his stomach, and that’s how he’s been getting food
(formula and meds), ever since. He’s continued to struggle with secretion
control, which becomes more of a problem when he’s sick, and we always have to
watch his positioning so he doesn’t choke. Those episodes can be pretty scary
and have had me almost calling 911 many times.
6.
Ataxia – he’s never had good voluntary control
and coordination of his muscles, probably since birth, or around the time he
was diagnosed with hypotonia as a baby. He’s a great kicker now (was when I was
pregnant too!), can move his arms around, and grasp things, but never been “normal”
by any means.
7.
Cerebral Atrophy – Riley has had several MRIs,
the first one at 6 months, which was normal. Since then there have been things
showing up, slowly over time, his brain tissue slowly loosing neurons and their
connections. Thankfully this has been relatively stable recently, but it definitely
means he has a progressive disease of some sort.
8.
Demyelination/Dysmyelination – his MRIs show
either decreasing White Matter in his brain, or that there is something wrong
with the function of the white matter he does have. As of right now it’s too
hard to tell which one, without more time, and more progression but, helped
lead to the diagnoses of a neurodegenerative disease.
9.
Chronic Kidney Stones – Thankfully they’ve
stayed small over the years, don’t move around too often (which can cause
pain), and he’s even passed a few on his own. But it’s just one more thing we
have to manage and keep an eye on, to hopefully avoid any surgeries.
Unfortunately, it’s a common side effect of the ketogenic diet, but the whole
not seizing thing, outweighs occasional stones!
10.
Chronic respiratory failure – the word failure
makes people think true failure, like dead or something. Doctor lingo…not
quite. Just means really sick and bad off respiratory wise. Basically, anytime
he’s sick in the hospital, he’s in respiratory failure, he doesn’t need to be
intubated to be at that status, but does require extra respiratory support and
therapy, like wearing his BiPAP more, and more cough assist.
11.
Chronic lung disease – think of what colds feel
like for you and me, take that same cold and give it to Riley. It’s gonna be
much much worse. He doesn’t have the muscle strength (which includes his
organs), to fight through colds like a “normal” person. Which is why a lot of
the time he’s in the hospital on extra support. He’s had pneumonia more times
than I can count, and we almost lost him to it (thanks RSV) in May 2016. We
pushed for a third try taking him of the ventilator (which was definitely life
support for him at the time), thankfully he’s stubborn and stronger than
doctors think, and proved them wrong.
12.
Central & Obstructive Sleep Apnea – We’ve
have an oximeter (oxygen and heart rate sensor) since he was only a year old,
so at night we know if he’s in trouble. Or now, just trying to get attention,
because he knows how to kick to set off the alarm when he wants something! But
that monitor has helped us know when he’s having trouble with his sleep apnea,
among other things. He first started just sleeping with a bit of oxygen through
a cannula at night, to help keep the O2 needed for his body, when he had an
episode, then those episodes started getting more drastic, and got big enough
for the need for a BiPAP. Which is definitely easier packing verses a heavy
oxygen concentrator, but a mask for his face, vs cannula. However, it’s helped
him sleep great (a lot of the time you look at the monitor, it’s breathing for
him, which is scary to think about if he wasn’t wearing it), and now he has
more energy during the day after a good night’s rest!
13.
Urinary Retention – a few years ago, he started
holding his pee, and getting such a big and bloated bladder, we’d have to bring
him into the ER on multiple occasions to get a catheter, to help. Got to be
enough times, that his doctor taught me how to do it, so we could save
ourselves the time and money in the ER. Thankfully, he doesn’t need it often,
but maybe once a month there is a time that his body just won’t let go.
14.
Congenital Fiber Type Disproportion:
15.
Congenital Disorder or Glycosylation (defect due
to double mutation in ALG14 gene):
Wow, right? Like I said, not looking for people to feel
sorry for us, I just want to educate and make everyone feel even more
comfortable around him and us, knowing more and feeling OK asking or talking
about something with us, if you’d like. And it’s taken us awhile to feel
comfortable doing so, as well. I update as things come up, but don’t think I’ve
ever really summarized the puzzle that Riley is. He’s the kid that make doctors
go, “huh….” Or “Hm….”. He’s the kid that does the exact opposite doctors expect
of him. He’s the kid that is not anywhere near the “normal” or “typical” when
it comes to anything. Any time he’s in the hospital, it’s always explained
multiple times that he’s not going to react or do what others do. He’s special,
and we love him even more for it.
We don’t have a 100% specific diagnosis still, but we know
it’s progressive, whether fast sometimes (like when he’s sick) or slow others
(like now when he’s stable), and neuromuscular and neurodegenerative. What that
means for his life, we still live in that unknown. But we MAY be closer to
knowing the root cause. He has a double mutation of his ALG14 gene, one from me
and another from Chris, which we’ve known for a while now, but have chosen to
not disclose until we knew more. Due to little being known about this gene and
almost no literature on it, things are still unknown. He’s part of a study in
California that is looking into this specific gene and how it works, the
thought is that it may cause how the ALG13 gene functions, which has known
literature and is connected to Congenital Disorders of Glycosylation (CDG
syndrome). But there was actually a publication that came out in July regarding
AGL14 in some infants, and between that, other research, and waiting to hear
from the lab in Cali…our geneticist is fairly confident, his ALG14 is the culprit
of everything he’s gone and is going through.
The hypothesis at the moment is that he has a milder form,
of what the infants had in this study, as they all had similar symptoms to Riley,
but lost their lives before or around their first birthday. Now, how mild is
mild? We will probably never know. But maybe in the next five or ten years,
there will be so much known about what Riley has, that it will have a specific name
and age expectancy, who knows. We are going to be continuing to live in the
unknown for some time, if not the whole time we’re blessed to have Riley, and
we’ve learned to accept that. We make decisions based on our gut, our hearts
and by the advice (keyword) of his doctors. It’s nice to have a sliver of
knowledge of a possible path that led Riley to his condition, and a sort of
idea, about what that means for Riley having a sibling…but that’s a story for
another day! ;-P
