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Isaac’s genetic results
March 24, 2019
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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 be affected.

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.

PORENCEPHALY: 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.

BSVD (Brain 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.

Addditional 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.

At this 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!

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