I could not say this better myself.
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When you are the parent of a child who is medically complex, you have some “Rare” friends. The first few years of my twins’ lives, we chalked everything up to being born at 27 weeks gestation. My 33-weeker was thought to need the first 3 years or so to progress, develop strength in her muscles and voice box, to “get better”. If you have preemies whose challenges exceed the expected complexity of their birth history/prematurity, after about the age of 3 or 4, doctors begin looking for a unifying diagnosis to explain the “unexpected”- especially if they begin developing “new” challenges.
After the age of 4, it became very obvious that something was continuing to affect the strength & vitality of my children. Overheating in warm temperatures (+/- 70 degrees F) without exertion, having low exercise tolerance and experiencing worsening work of breathing and/or asthma symptoms while it has been treated aggressively for years, resulted in referral to high tech evaluations for possible Inborn Errors of Metabolism.
Tomorrow is World Rare Disease Awareness Day. We will all “Wear Jeans for Rare Genes”. My children’s genetic & metabolic assessments are ongoing & it is believed 2 of 3 may have their own variation of a very rare metabolic disorder- but we’re still not sure which one. The following is a list of disorders for which my children have been screened- it is not exhaustive- and a few diseases are included that affect a few of our close friends. Please learn more about Rare Disease & support research funding for the children, individuals & families affected by Rare Disease.
Mitochondrial Disease is a disease affecting the mitochondria in cells. It is a disease of cell energy- like running on low batteries- which causes progressive decline in many body organs, often resulting in early death.
Lysosome Storage Disease is another progressive Inborn Error of Metabolism. The link is to a video where Alec Baldwin simply explains the disease & how it may affect a child or individual.
A Congenital Disorder of Glycosylation is another disease of cell metabolism which causes decline in multiple organ systems & shortens the lifespan of affected individuals.
There are many, many more Rare Diseases that affect anywhere from a single known case to 5 known cases (2 being my children) to 100s of cases worldwide. Without research funding, these illnesses will continue to ravage the children & individuals in mine & other families. Please care WITH us & Wear Jeans for Rare Genes tomorrow.
Today was another hot & humid day for us here. We spend hot days indoors because heat fatigues Tavish VERY quickly and Adrien & Keva have little stamina in heat themselves. On days like today, we crank down the AC and find things to do in the playroom.
My sister-in-law & nephew came to visit for a few hours and all the kids enjoyed playing with their toys as though they were new again. Adrien & Keva drew pictures for our guests and Tav raced cars and spun weebles on the “ferris wheel”. It was a great way to break up the string of hot days we have been having and gave Momma some adult conversation! A great day which ended with cake! [how could it be anything BUT...]
Happy Fourth of July!
I want to write… but oximeter alarms sound so frequently I am waiting for the nurse so I can go to the bathroom. I want to write… but New Year’s Day brought the stomach flu to ME while I was alone with the recovering kids all day. I want to write… but when the nurse arrives, I need to SLEEP. So goes the complex medical life…
The kids are becoming ill. We are creeping up on an anniversary & I will push through but already Keva has begun to wheeze & have bronchospasms. Fortunately, the twins only have a bit of congestion and the occasional sneeze/cough so far.
Regardless, my oldest was home and we needed to get a tree and get it decorated before he goes to his Dad’s for the holiday. Enjoy the photos- we even got a full family shot! Happy holidays!
This picture says it all:
Happy 4th birthday, Baby Girl!
Love you bunches!