This is Samantha.
An 18 year old dancer, musician, artist, lover of animals, & anti bullying advocate. In many ways she is your typical teen. She likes hanging out with friends, painting her nails, shopping...In many other ways she is not. The following was written by Sam's mom and my dear friend Jodie.
Sam was born with static encephalopathy and a unique, extremely rare chromosome disorder. Because it is so rare there have been no studies done on it and no name for it. The Genetic Drs are calling it "Xq25-Xq26.3 chromosome duplication disorder" because that is the link of her duplication.
Due to this genetic disorder she has many other health issues and is really small. For example her foot is a size 2 kids, its as long as my hand and her hands are small as a toddlers.
She has Secondary Mitochondria, cerebral palsy, oral motor apraxia, asthma, gerd, Bile gastrisis, learning disabilities, sleep apnea, autonomic issues, Thermal dysregulation, and other health issues.
As a baby she grew really slowly and had a diagnosis of failure to thrive, and was delayed in all of her physical abilites. She had many doctors, testing, and thearpies. As time went on we adjusted and she learned things, even if that process was and is slower than others.
Now she is a beautiful 18yr old, kind and caring teenager. Biologically she is 18, but because of the delays and static encephalopathy she is more like a 12 yr old. Within this last year she has had new medical issues emerging. The doctors believe these issues stem from the Genetic abnormalites. We just have to try and deal with stuff as it appears.
We just took a trip to Wisconsin Childrens hospital to see speacilists, which was an out of state trip for us. They put her on many Mitochondrial supplements, like Coq10.
She was also diagnosed with Thermal dysregulation. She doesn't sweat and her body does not regulate her temp. very well. She has to be extra careful of the heat and the cold. So she doesnt get heat stroke, or hyperthermia. Just taking a nap under covers, causes her to run a fever. We need to order her a cooling vest and a cooling blanket which aqre expensive.
She has episodes where she loses time and what is going on around her, leaving her confused and unsure what just happened. The neuro-surgeon we saw and her local neurologist believe she may be having seizures that are deep enough in the center of the brain that they aren't showing up on the EEG tests. So they are sending us to another specialist at Duke University. They said they may do a special MRI or a PET scan. The large gaps of missing time really concern us and her doctors. So we are trying to get to the bottom of this issue.
She also having a lot of trouble with her stomach, eating, and digestion. She has more tests coming up for this. Depending on these tests, and if she continues to lose weight, they are talking about a G-tube (feeding tube) in the future. They have her on nutritional drinks "neocate splash" to hopefully help her maintain her weight, and a high calorie diet. She been dealing with vertigo, migraines, nausea, abdominal pain, body pain also.
Because of her static encephalopathy and learning disabilities, Samantha is delayed and has to attend some thearpies and counseling. Pyscologically there is a lot to deal with. Any help we can get her to make things better for her to deal with daily life issues and situations would be great. We just want her to be as happy and healthy as she can be. To live the best she can later in life as a productive member in our society.
This is the best I can do to sum up the issues without going on for many more pages. A child with disabilites needs many services and it can be overwelming finacially, no matter how much you do to keep up with it. Her mitochondrial supplements alone are extremely expensive and not covered by insurances. Not to mention, copays, hosptial bills, etc. I thank you so much for taking the time to read some of her story. If you can donate to our fund to help Samantha get the continuing care that she needs we thank you sooooo much. Sharing the link to this page, so others can see it is also a great help. Thank you
Please share. I know there are many, many needs to fill. I certainly cannot meet them all. But GOD can! Quite often He uses us to bless someone.
As you pause this weekend to reflect on our Saviors perfect sacrifice, would you consider sharing this post and making a donation to help Samantha and her parents pay for her very expensive medicine and medical treatments?
Samantha Medical Expense Fund Raiser
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