Sunday, February 5, 2017

A gift of joy

My great nephew Jude has been diagnosed with this condition by the good folks at The Mayo Clinic in Rochester, MN.
It's hard to understand exactly what it means, but the notes below are from a website all about Polymicrogyria Awareness.

The more we know, the better we understand Jude and how special he is.  He's an active little boy, who loves basketball...born to the right family, eh?  He's learning sign language, and starting to say names.  He might have challenges in his road, but he has touched every heart near him and there is not doubt he is a gift to our family.
Jens and Jude playing basketball.
Big Sister Stella getting ready for the jump ball toss.

From the website:
 May 7, 2012 at 1:46 am

Polymicrogyria- let’s break this big word down into it’s basic parts. “Poly” means many, “micro” means very small, and “gyria” is the medical term for the wrinkles in the brain. So we have “many very small wrinkles in the brain”. During the baby’s development in the uterus the nerve cells divide and make up the layers of the brain and make the wrinkles (gyri) of the brain. With PMG, that process is altered and it causes the brain to form improperly. It forms small wrinkles which don’t process the information it receives like a normally formed brain. This causes problems with functioning in the body much like a stroke can affect the brain. Depending on what part of the brain is involved and how severe the deformity is, results in the impairments that we see with PMG.
What are the “typical impairments”? There are several different forms of PMG (see the RESOURCES tabs for more information) . Common problems associated with PMG in general are: swallowing and speech difficulties, reflux, seizures of varying degrees (about 90% are affected with seizures), developmental delays, lack of muscle coordination, impaired mental cognition of varying degrees, and cerebral palsy-but there can be many others. It can be mild enough to go undiagnosed and they just get labeled as “developmentally delayed”, or “seizure disorder”, or “cerebral palsy” if the child doesn’t have an MRI AND a specialized radiologist who knows what it is they are looking at. Currently a LOT of kids are falling through the cracks and that is why we started our organization.
For some it even causes problems with vision, cognition, hearing, or even worse, breathing and maintaining body temperature. Sometimes it is diagnosed alone or sometimes it comes with other diagnoses, like cerebral palsy, epilepsy, hydrocephalus, macrocephaly, or microcephaly (certainly not an all-inclusive list). All of these are frightening at best, but when you add to the diagnosis the fact that MOST healthcare providers have never heard of it and have no idea what can or should be done, then you have a real crisis!
Perhaps, for most of us, the hardest thing of all is not knowing what it means for YOUR loved one. You see, PMG affects every single person differently. It may cause severe, even fatal problems, or it might be mild. It is not uncommon for it to even go undiagnosed when a person has a very mild form. Typically they may be just labeled “developmentally delayed” unless there is a significant incident that leads to an MRI and even then it can be difficult to diagnose. (In Brie’s, my granddaughter’s, case it required a neuro-radiologist to diagnose)
One person may have no seizures or mild seizures while another may have seizures several times a day and at times not be able to get them to stop without injecting some seriously strong medications. In the most severe cases the seizures may not stop, even with these strong medications. Some parents face a terrifying decision to elect to have brain surgery in an attempt to stop the seizures. Even then, surgery can only help in some cases. Usually, they are the cases that are localized to a certain target area.
In fact as an R.N., I am embarrassed to say that I had never even heard of the term SUDEP. While most people with epilepsy live a relatively healthy and full life, it would be remiss of us as an organization not to provide this information to everyone who accesses our website.
SUDEP is an acronym that stands for Sudden Unexplained Death in EPilepsy. And rather than try and explain it here, here is a link that is amazing on the subject.:
All of this can make you hypervigilant. It can steal your joy and especially your peace of mind. I would like to say that it gets easier, and in some ways it does. Eventually you start to come know your little one and what is normal for THEM. You will adjust to the situation but that doesn’t make it easy. There will be good days and bad days. And so we learn to treasure every single good moment. Ultimately, I think THAT might be the lesson in all of this. This is a difficult situation at best, but the amount of unconditional love and joy that we experience is incredible. We truly understand what it means to not take a single moment, a single smile, a giggle, one bite of food, or a single step for granted. The things ordinary people take for granted every day, like seeing your child reach for a toy, suddenly make us squeal with delight! And so it goes. Our picture for ourselves and our children may not be the one we thought we might have painted, but it is it’s own beautiful original masterpiece. Unique and beautiful!
If I might offer one piece of advice, it is that you can’t do this alone. You need a strong support system. You may find that the people you were closest to become more distant. They don’t know what to say or do, so instead of feeling awkward, they may pull away. I would encourage you to open the conversation with them. Tell them that you need their friendship. If you are at all like we are, we struggle to find those who truly understand- those who are “walking the same path”. When you are dealing with something so unknown, often it will turn out that the closest you can get to one-on-one discussions with another person dealing with PMG, will be right here on the internet. Hopefully, we can change that one day. But for now, please know that there are many of us here and we care. We GET it! And we will be here for you in ways that perhaps most of the people you know, can’t be.
~~Catrina Byrge, Brie’s Grandma

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