Little did I know that when we went in to get our genetic
testing results on Feb 28, 2018 that we would join millions of people
celebrating their loved ones on Rare Disease Day. A rare disease is classified as one that
affects 1 in 2000. We learned that Isaac’s gene variation was 1 in 7.53
billion, the first ever reported. There are less then 200 people in the world
with a variation of this particular gene COL4A1 so that makes us even rarer (is
that even a word?).
I remember sitting hearing the practitioner explain the
results, and it seemed like in my head all I chose to hear is are these related
disorders may or may not apply to Isaac. I wished and believe it would be so. Because
this gene is so rare and everybody who has a variation has highly variable
multisystem effects, meaning that in one person a certain organ is attacked, in
another multiple or all organs could be affected. This has triggered a ton of other referrals
and appointments to get baseline, evaluate or follow certain organs that can possibly
I thank God for leading me to Dr Brandy’s a physiatrist at
Nemours who was looking for research participants in cerebral palsy children.
My first experience with her, was truly phenomenal, and she was the first one
to say that Isaac did not look like a “typical cerebral palsy” child and she
pushed for the MRI and genetic testing. She somehow accommodated us at first to
see us through the study and later we were self pay up until I finally won the
battle of getting Isaac Medicaid last June.
That has been a miracle.
I a firm believer in healing, Isaac has led me to go back to
school to get a doctorate in Integrative Medicine. I believe conventional medicine has its place
in the world but conventional medicine does not support alternative therapies,
or even believe in different approaches then what is taught in medical school
(which is pharmacology and surgery)- give a pill or cut. As a Christian I wanted to understand
spiritual healing and alternative medicine healing and I’ve come to the
conclusion that in both worlds it happens as a miracle. A miracle is not
something conventional medicine can research by studies, because the phenomenon
is typically “unexplainable” by science, research, or by the healed/healer.
These results have actually given me a little clarity as far
was what we are battling against. In my mind I visualized this one little gene
that is causing this disaster in my son’s body, and what really has to happen
is this gene needs to stop signaling what it is signaling. How would that be? I
have no darn clue, well I do, I would call it a miracle.
How has this gene affected us today, and what these related
disorders all mean? Collagen
type IV alpha 1 (COL4A1) are extracellular matrix proteins that together
constitute a major component of nearly all basement membranes. These basement
membranes are what capillaries and blood vessels are made up of so organs that
are highly vascular like the brain, eye, muscles, kidneys, and lungs are first
to have pathology or disorders.
Although we have not been given the diagnosis of porencephaly (as we are still
waiting to see more specialist, neurologist follow up). This condition is
typically as a results of brain hemorrhage before birth (in utero), in essence
a stroke that caused severe damage to the developing brain leaving cavities of
fluid in the brain (which may explain the large arachnoid cyst that Isaac has).
We did have one neurologist mention that it did look like Isaac possibly had a
bleed in utero but at that point the MRI was 2 years after his birth and it was
harder to tell without having a comparison. The results of this have left Isaac
with developmental delays, poor speech
development, muscle spasticity, dystonia and seizures.
Small Vessel Disease) and ICH: susceptibility to IntraCerebral Hemorrhage:
Small vessesels in the cerebral cortex (brain) can continue to cause
cerebrovascular disease. Trauma, no trauma, or drugs that cause blood thinning
could cause mircobleeds, strokes, or heart attacks. This left me thinking of
how fragile my child is. Due to his weak neck muscles he use to bump his head
into everything, who knows if that caused any more issues than we already had.
In a child who is already “quadriplegic” and does not use all this extremities
normally and nonverbal there is really no way of knowing if the child is having
a migraine, headache, or that something is off.
It’s difficult for me because there are only 2 people in Isaacs’s life,
mom and his caregiver-nany that have provided care since birth and are
“intuitive” to his discomforts, cries, or knowing that something is off. He has
never been left with anybody else. Which means that we are probably going to
continue the homeschooling Journey we just begun this past year.
HANAC SYNDROME; An acronym for Hereditary Angiopathy,
Nephropathy, Aneurysms, and muscle Cramps. This encompasses a multiorgan
syndrome. We recently saw nephrology and are undergoing testing to make sure
his kidneys are ok. This brough me to realization that we had seen a TCM
practitioner who’s main concern about Isaac was his kidneys. This fascinates me
now because she observed his body, took his pulse, and literaly put him on a
“kidney diet” to help rehydrate his kidneys and steer away from the GAP’s diet
we were on. We saw her over a year before this diagnosis and maintained this
fruititarin diet that was recommended. Then when his seizures started I tried
to introduce more protein and go “keto”… I will have to discuss diet in another
post as it is a passion of mine.
signs and symptoms we are having to get worked up are eyes. Developmental
defects associated with drainage structures of the eye can lead to increased
pressure (glaucoma), congential cataracts, retinal artery twisting, and retinal
arteries prone to rupture. We have seen ophthalmologist and I have questioned
numerous doctors about Isaac dilated pupils and so far the only response I get
is that has to do with fight or flight (sympathetic nervous system) and that
his eye will not normally shrink when exposed to light. He has moderate/severe
light sensitivity which has improved but that is still a question on my mind.
Although I am glad to report his dilated eye exam was normal and so far they do
not see any problems with his vision.
I know Isaac
is only 3.5 years old but in retrospect looking back at the first few fragile
years of his life I cant believe how much God has been guiding me and helping
me “know what to do and when”. Most days, we lived a day at a time; we may plan
appointments, surgeries, procedures but for first few years we lived in
“survival” mode. God has truly provided a miracle God sent nanny, who is now
Isaac caregiver. Isaac requires 24 hour care pretty much, some nights I sleep
next to him and days require one-on-one care. Feeding has been an issue from
day of birth, he suffered with colic and most likely an undiagnosed facial
paralysis that prevents his tongue movement and lots of air swallowing.
Although feeding is still a major component of our life, and though we’ve been
“threatened” he may need a g-tube, I will do anything to maintain his feeding orally
in any way possible. His weight has maintained on growth charts and he loves to
eat, who care if its takes us an hour to eat, we will fight the fight.
point our past is our past. We have an amazing, brilliant, bright joyful child
to celebrate life with and we will continue to do so. Our family loves him,
everybody he is exposed to loves his smiles, he is truly a child that brings a
smile to every face. We’ve learned to love, communicate, and play in so many
different ways. Life has taken us on a slower, scenic route so we stop to smell
the flowers and enjoy the precious life we are given, every single day. No
matter how hard it may be, or what the prognosis may say. I believe in a God
that does miracles. I am just learning to get out of the way, surrender, and
let God. Surrender is hard when every breathing living cell in you wants to
make it easier. So if life gives you lemons, make lemonade!