The tapestry of the life of a medically complex family

Archive for February, 2013

Rare Diseases Affect Us

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.





As parents, we all do our best to protect our children. We use outlet covers, remove knobs from gas stoves and install carseats so tight paper cannot slip beneath the base. This morning my 5-year-old bumped her head trying to surprise me by re-making her bed because I told her we were going to do that this morning. With all we do, we can't keep them safe from every bump or bruise- fortunately Momma's magical kiss was all that was needed to heal this one.

Being Mom to nearly 7-year-old twins with trachs, and a medically complex 5.5 year old, there are things worse to worry about than a bruise on the forehead or a scrape on the knee. A simple cold in another child their age could be an illness severe enough to put them all on oxygen, develop into a severe pneumonia, place us inpatient across 2 rooms at our children’s hospital. Our last inpatient stay was Christmas Eve 2011, as my youngest began requiring oxygen at home to keep her oxygen saturation within the acceptable range.

The way we avoid the hospital is to work to avoid contact with people who may become ill and share that illness with us. From September through May every year, we live in “Lockdown”. It is the primary reason I homeschool. It is why the OT & PT see my kids first, and cancel when they are exposed to known Flu or RSV or if they are coming down with something or “feel a tickle” in their throat.

I realized in describing it to our neurologist that people don’t understand the lengths we go to as a family to avoid illness. They see kids who appear medically frail but who have infrequent hospitalizations, who maintain health throughout much of winter. They see them cone to clinic wearing masks, in their strollers, with a Mom who requests exam rooms be wiped down in her presence. They have no idea that this is the tip of the iceberg.

My twins with trachs turn 7 on Saturday and have been to the grocery store less than 7 times. They stay home with a nurse or I shop online to avoid exposing them to a grocery cart. My youngest sits in the cart still, but only after I wash every surface she might touch with wipes rated to “kill the flu virus”. We have not been to a gymnastics class since my twins’ first summer home- the summer we spent 2 weekends of every 4 inpatient.

With family parties in winter, we canvas family members the week prior to see how everyone is feeling. We cancel if anyone sick is planning to go- and almost NEVER attend an “in-law” inclusive party- even in spring. We celebrate our own holidays and birthdays with small gatherings at home- including one set of cousins who are well one week, making time when the others are well to celebrate again.

Vigilant? Yes. Extreme? No. My children have a history of adjoining rooms in more than one hospital in year’s past. Being inpatient 10 days after Thanksgiving, 8 days after Christmas, the week after a visit from the birth family aunts an uncles- a hard lesson has been learned and etched in our experience. “Lockdown” is the way we ensure we can be together as a family, home & safe from the illnesses contracted as a result of an inpatient stay. My kids continue to experience a rich life of playing in snow, riding bikes and building blanket forts. They just do it ‘different’, not ‘less’.

Content on a Socratic Sunday

“He is richest who is content with the least, for content is the wealth of nature.” Socrates














“… For it goes without saying.”












My son is a twin. He’a a twin with a trach who has a twin with a trach. He also has a younger sister 17mos. younger than he, who is always with us too. Being a single Mom of many, one-on-one time is a precious & elusive commodity.

This morning he woke early & needed to run to the bathroom (14 ounces of fluid pumped in overnight…). I detached his feed and brought him out through the kitchen. Because it was after 6a, I pressed the start button on the Grind’N’Brew and gave up on the idea of getting more sleep today.

After feeding the dog & pouring my first cup, Trachboy & I snuggled at the kitchen table & talked about that today was February 1. We talked about January, what his favorite activities had been, and followed tangents from there.

Sitting, talking 1-on-1 with Trachboy, is his best environment. When more people are there, he clams up, he defers to others, he finds something else to do. 1-on-1 you see his sweet, loving nature and glimpse at things he thinks about, things he loves, what he wonders. This morning’s cup of coffee was my best event of the week. I am so thankful for 1-on-1 time with my special boy.