I dream of haircuts and dinners out
Of trips to amusement parks
And walking about
Of having a life beyond this small room
Vacation, independence,
And friends for each too
Hotdogs at the ball field
Sweaty seats on the T
Dreaming of normal that ne’er may be
Sprained ankles from skates
Tapping my wrist when arrival home late
High school and homework and
I was chatting with another Mom to a child who will not outlive her. It is a difficult awareness that we live each day. A difficulty that is not without its own gifts for we who live it.
I think one thing about our kids:
It won’t always comfort us, but their strength through all this adversity, their joy, their sweetness, their ability to draw people into our lives who understand- who love us & them- that legacy will stay with us when we no longer have them with us physically. YOU, other parents of children LIKE mine & different from mine… it’s a gift my children have provided that will outlive them.
Bittersweet gift, but a gift for which I will forever be thankful.
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.
I guess traveling this trach journey is complex and busy and adds some limits to our lives on the day-to-day. Many of our docs want us to rush toward decann – I cannot TELL you how many docs have the “Get it out. Get it out. Get it out.” mantra on their letterhead… And, I am in FULL and complete agreement that THIS is our plan- but I am not willing to rush it at any risk.
Currently, my son demonstrates regular difficulty breathing- his resting respiratory rate is in the mid to high 20s, while his sister rates in the teens. Last night, after an afternoon visit by a friend and spending time outside playing [mild/moderate activity bursts…] for less than an hour, he had a very high Respiratory Rate (RR) through dinner and into evening nebs- high 30s/low 40s while seated. At one point he began to look “dark” [his version of blue…], complaining of headache and his sats were hovering in the mid-80s [84-87 bounces] until I began running the hypertonic saline off oxygen. He had just had an albuterol/atrovent duoneb and should have been really “opened up”, but the fatigue of the day caught up with him and he was not moving oxygen efficiently. After nebs, his RR continued to be high, with lower sats than normal on 1L* versus his normal 0.5 … While in bed, even after falling asleep, I continued to get RRs in the 40s while he satted 96% [his norm is 98-100 while on 0.5L oxygen]. After a couple dips and continued high RR, I increased his Liter flow to 1.5L and he finally seemed to rest more comfortably. I am MOST thankful our docs know that Trachboy does not indicate any readiness to have his trach removed at this time.
With regard to Trachgirl, she breathes with a pretty normal rate for age with her trach in place, across all activities. She has higher energy than her brother and sister, but still not nearing typical for her age- and she does show some heat intolerance, although tolerates outdoor temps much better than her brother. She passes the “screening” pressure for the Passy Muir Valve [speaking valve] to be used, without modification, although increased pressure [above limits] was noted while speaking [seated on a bed]. She also once passed a momentary test for simulated capping [capping blocks air into and out of trach & requires a person to breathe through their upper airway]. Because of this, she is the child some docs want on a faster track to decann- altho our surgeon has told us for YEARS she would need more extensive surgery to get there. Our surgeon seems to have agreed to the “team” plan [not including me] of working to fast-track her to a capping trial, without surgery for the collapse at her trach stoma. This type of plan has been my 100% reason to keep our ENT at a separate hospital- because it is out of character for him to “experiment” versus repair…
The data I have? Trachgirl tolerates the PMV for about 45minutes consistently. She regularly has oxygen desaturation during use of her speaking valve, especially if she is moving around playing. She slows down, or sits down, and asks to have it removed- saying she feels like her “stomach is heavy”… I continue to collect the data to share with the team- primarily through nursing notes of time tolerated and events. The docs may be concerned that I am not running with them to make this leap for my child. I guess sometimes they lose focus that: It’s not the jump you have to worry about; it’s the landing.
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* Oxygen flow is defined in its rate: Liters per minute. Tav typically is on 0.5L/0.5Liters per minute of flow, all day every day.
Basekamp Laundry Mountain 