Seizures
We were so blessed that
Colton was seizure free for 5 glorious months, from March to August of this
year! At the suggestion of Colton’s new Epiloptologist, we started decreasing
one medicine that we were concerned would affect his speech development
(Topamax). In doing so we knew there was a risk to bring on seizures as we
started to increase and adjust his current medicine, Onfi. I think he had about
6 seizures in a 6-week period in August and September. Luckily, we reached a
good medicine level and we haven’t seen any seizure activity in over 2 months.Genetic Results
The results to Colton's genetic tests came back and showed one mutation on the DYRK1A gene. Our geneticist and the results confirm that this genetic mutation is the cause of Colton's seizures and developmental delays.
This gene plays an important role in brain development, therefore individuals with mutations to the DYRK1A gene have been reported to have intellectual disability, absent or delayed speech, febrile seizures in infancy, epilepsy, microcephaly (small head size), poor coordination, autism like characteristics, hand flapping/waving of arms and a few others that I read about but don't seem to apply to Colton (yet).
As far as we can tell, mutations to this gene are rare. Our geneticist could not offer ANY parent support groups or foundations, only a few medical journals online, that's how rare it is. After some searching, I finally found a facebook group with other parents, with only 28 families total in that group and several that were not in the USA. With the medical journals published and the families we've met, our best guess is there's maybe 60 people in the world with a similar mutation.
We were very happy to hear that neither Patrick nor I have this mutation, so it is something that arose in Colton as a new mutation and would not affect our future children. We consider this a huge blessing and feel a small weight lifted off our shoulders in regards to hoping for more biological children in the future.
The lack of support and very small sample of other people with this mutation make it hard to know what to expect for the future. We are grieving the fact that with the knowledge of this mutation, the delays and seizures are most likely a permanent part of Colton's life. Now we hope and pray and work hard to figure out the best ways for Colton to learn and grow and develop to the best of his ability.
Autism Diagnosis
We were referred to a
Developmental Pediatrician and about a week after we learned about the genetic
mutation, Colton received a diagnosis of Autism. We were somewhat prepared for
this diagnosis, but regardless it was still hard to swallow. As you may already
know, Autism is a spectrum disorder, so it’s common to say that no two kids
with autism are the same. Colton has poor eye contact, fascinations or
obsessions, hand flapping, delayed communication, some repetitive behaviors and
intellectual impairment, which are all common characteristics of autism. Even
though we know that Colton has a rare genetic difference causing several of the
symptoms we are seeing, we also know that Autism is a much more commonly known
term. The official diagnosis will allow Colton to be eligible for a lot more
services and therapies and help in the future. Some of you may know that my
(Jackie) younger brother has autism. I grew up being around the autism world
and being the “sister of a special needs kid”.
I never dreamed that I would also parent a child with autism. Someone
told me the other day that the Lord has been preparing me for a long time for
Colton. I am thankful that the word ‘autism’ doesn’t scare me as much as it may
to another parent who has no experience. I’m connecting to my own mom in ways
that we never have before, as she remembers and relates a lot to what we are
going through. Although she does say that things have changed quite a bit in
the past 25+ years!
Fevers
For a few months, Colton
has been reaching a low grade fever temperature almost every day. Each time he
had a seizure, he would have a ‘fever’ temperature. Finally, we started keeping
a detailed temperature log and determined that about 5 out of 7 days a week,
Colton had a fever, with no other symptoms to point towards a sickness. We were
referred to an Infectious Disease doctor to investigate this issue further. We
are so thankful that all of Colton’s blood work is normal and does not point to
any reason for the fevers. It turns out that fever is a very rare side effect
of his medication, Onfi, so for now the doctors are saying at least that is one
explanation. After reaching out to the other families on the facebook page for
the DYRK1A gene mutations, a handful of other families reported seeing similar
fevers in their child. So it’s possible it’s just another symptom of this
genetic mutation that isn’t well documented yet.
Ophthalmologist
Getting Colton’s eyes
checked had been on my list for a while, but with the new knowledge of the
genetic mutation, we were strongly encouraged to see an ophthalmologist.
History has shown that individuals with mutations to the DYRK1A gene have had
eye abnormalities. At Colton’s first eye appointment, the doctor said that his
left eye is weaker and not focusing. Luckily, no glasses needed at this time.
However, for the next 6 months we are doing some patching over his right eye to
strengthen his left eye. It’s only about 5 hours a week, which is pretty
minimal. Amazingly enough, Colton allows us to put on the eye patch (a stick on
like a band-aid) and doesn’t try to take it off! He runs and plays and eats
like he doesn’t notice it. As a nod to his eye patch wearing days, he was a
pirate for Halloween this year!
Development
Colton continues to
increase his abilities in gross motor skills. He can step up and down small
steps on his own without holding hands. He is learning to hold onto some
railing to assist with more difficult steps, or even the side of a door frame
to steady himself. Colton understands the words and the sign for “all done” and
can nod his head up and down to signal “yes”. Cognitively, Colton continues to
understand more and more of what we are saying. If we say “eat” and use the
sign for eat, he will run to his high chair. If we say, “it’s time to lay down
and go to bed”, while using the sign for bed, he will run to his crib in his
room. If we offer for him to watch TV, he will run to the TV console and try to
open the doors. He’s a fan of trying to put a DVD in by himself. He runs to the
front door when we say “let’s go check the mail!” Overall, he understands a lot
of what we say. The hard part is him communicating back to us. We have not seen
much progress in the speech department. His main way of telling us what he
wants is to fuss/whine and take our hand and lead us somewhere, for instance,
the TV or the back door to go outside. He will also run to his high chair to
signal he wants something to eat. We just got a new puppy and for the first
time ever, he took my hand and led me to the puppy’s crate to let him out. During
therapy, we are using a specific chair that Colton sits in each time we are
going to work on an activity. It’s always our goal to start and complete one
activity at a time, he is normally pretty resistant to finishing activities and
acts bored or tired or uninterested. Our second goal is to continue to lengthen
the amount of time he will sit in the chair to work. Sometimes he lasts for
only one activity, sometimes it’s 2 or 3. We let him take a break and then move
to the next thing. Common therapy activities include puzzles, putting coins
into piggy bank, playing with play dough, Mr. Potato Head, threading, themed
activity boxes, looking at books, etc. For most of these activities, Colton
requires hand over hand assistance and guidance. We are working on him
following one step commands, like “Can you put that ball in the cup?” Additionally,
Colton has a lot of sensory needs. Mainly oral, like he needs stimulation in
his mouth almost all day. Typically, that means he has two fingers in his mouth
at all times. We are consistently removing his fingers and offering him a chewy
necklace or something else appropriate to put in his mouth. Colton also likes
to be upside down, likes to crawl sometimes and roll on the floor and also
swing, which are all activities that give him a lot of sensory input.
Therapy
Colton has been in
at-home therapy through Early Childhood Intervention since he was 15 months old
(some activities and goals detailed above). That program ends when Colton turns
3 years old, which is coming soon! The school district provides a free Preschool
Program for Children with Disabilities (PPCD) which we are currently in the
middle of the paperwork and evaluation process. PPCD would provide a small
classroom setting, probably 1 teacher for every 2-3 kids and it would include
time with a speech therapist as well. When Colton received the diagnosis of
Autism, the Developmental Pediatrician highly suggested and prescribed Applied
Behavior Analysis (ABA) therapy. ABA is a 1-on-1 intensive therapy focused on
behavior. As you can imagine, this type of therapy is expensive and time consuming
and difficult to get insurance companies to cover. As you may have guessed, one
of our biggest goals is communication, so it’s possible we may entertain
additional private speech therapy. It will be a balancing act and will require
that as parents we use our best judgment to gauge what’s the right balance of
PPCD, ABA and Speech in the coming years as we prepare Colton for the school
years.
Summary
Over and over again we
have thanked the Lord for His perfect timing. We received the genetic results
weeks before we were anticipating and we were much more knowledgeable on
Colton’s condition before several other evaluations and doctor’s appointments
that followed. More knowledge is more power. We cried and grieved for many days
after hearing the genetic results. And it seemed to continue to pile on with
the eye patch, infectious disease doctor and autism diagnosis that followed the
next few weeks. It’s very hard to know what to expect for Colton’s future, so
I’m trying to do my best not to think too far down the road. It really is a
blessing in disguise that we have these diagnoses so early in Colton’s life.
Having these ‘titles’ allows him to qualify for the necessary help he needs and
we can make a game plan going forward. There doesn’t have to be any more
searching for answers or wondering. We have answers, even though we may not
like them. I’ve mentioned this before, but it still is ringing very true so
I’ll repeat it here. I know you’ve heard of the 5 stages of grief: denial,
anger, bargaining, depression and acceptance. I’ve heard it said before that
parenting a special needs child feels a lot like a never-ending grief cycle and
to-date I can tell you that it’s so true. Having these diagnoses doesn’t change
a thing about Colton and how much he is loved and cherished. It just helps us
manage our expectations for his future and help point the direction of where to
steer our ship to give him the best opportunities to continue to grow and learn
to the best of his ability. Parenting Colton has provided so many opportunities
for Patrick and me to lean not on our own understanding, but to put our faith
and trust in our Lord. Proverbs 3:5-6 tells us to trust in the Lord will all
our heart, acknowledging him in all our ways and He will make our path straight.
It gives us great comfort to know that God formed every single part of Colton,
knitted together in my womb (Psalm 139:13). Our Father in Heaven KNEW Colton
before he was even formed in the womb (Jeremiah 1:5). Colton is a child of God
and we are so grateful and thankful that we get to shepherd his life while we
are on this earth. God cares for Colton far more than we will ever be able to
fathom and we know that we are not alone on this journey.
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