Friday, October 18, 2013

Your child was diagnosed with MCADD but will live a full life, with care

When we got the confirmation of my daughter's MCADD diagnosis, we had an answer for the crisis she had gone through, but I was terrified of being able to keep her alive. Five years out, she is indeed alive, and MCADD was not a death sentence. A butt-kicking experience, but doable.

Most children will be diagnosed through the expanded newborn screening, done shortly after birth through the heel stick blood tests. The nurses who have practiced for years often refer to the test as the PKU test, since for years that was the main illness diagnosed by newborn screening. Now, most states have expanded their newborn screening for metabolic disorders, and MCADD is about as common as PKU, and the second most common genetic metabolic disorder.  Loads of kids are diagnosed years after their births, when a younger sibling comes up positive on the newborn screening and then all other kids in the family get tested, and the family learns they have been successfully living with MCADD for years.  Regardless of how you learn about it, being told your child may die from a regular average every day cold, is indeed terrifying. The scariest day is when the parent goes to the internet to learn about the new presence in their lives, and they find websites describing the tragic stories of children dying when the condition was unknown. Armed with the knowledge that as long as your child never goes into a serious low blood sugar state, she will live, you pick up the pieces and move on, fear in your heart.

My daughter's stroke and cerebral palsy were caused by the MCADD factor, but are certainly not a common outcome for MCADD.  Hannah was not a gifted nurser, and her blood sugar went down slowly after her birth, so that 2 1/2 days after her delivery she experienced a metabolic crisis.  If we had a normal delivery she would probably have died and people might have called it SIDS, but since she was born by Cesarean section, we were still in the hospital.  Nurses charted her low temperature and took her from my room, her blood glucose was measured, they tried to feed her, and measured her blood glucose again, and again, and eventually charted "glucose IV stat" but it was not given for another 20+ minutes.  She became fully hypotonic, with absolutely no muscle tone, and experienced a metabolic crisis.  Doctors were baffled by her condition, gave antibiotics and monitored her closely, and about six days after she was born, we were given the MCADD results. At the time, no one expected there to be lasting complications, and the stroke was not diagnosed.  I had enough to worry about, being told that a few hours delay in feeding could kill her and that fever and vomiting might be cause for a hospital admission to avoid a hasty death. We came home without her, brought her home a couple weeks later, and I pumped breast milk for the next 18 months, since she never was an adept nurser.  I was terrified, I wondered if I should quit my job to stay home with her or try to get a nanny rather that putting her in day care, and I wondered how I could keep her alive if a world class medical facility nearly couldn't.  Three times I have taken her to the pediatric ER for testing and a glucose IV and three times she started keeping food down while there, recovered, and has never had to be admitted to a hospital for her MCADD condition.  Now that she is bigger, fasting is less risky, provided she doesn't fast for long or have other illness of a significant nature.  Day care was fine, in fact, given her CP, it was a huge part of her successful development to date.

If I could tell parents of kids with MCADD anything, it would be - you are good enough to do this. You really, really are, so don't waste any energy with fear and self doubt - just be mindful and do your best.  If you get here because you are in a similar situation, please email me for support. If you struggle with your fears of being adequate, get help.  If you are trying to be supermom, don't hurt yourself to do it.

I don't want to blame my meltdown on my daughter, but instead on how I reacted to her condition - but having a daily fear like this contributed in a big way to self medicating myself into a pain pill addiction that could have robbed my daughter of her mother altogether. Not cool! Not good parenting! I hope that other parents are smarter than I was, and don't let self defeating beliefs, the depression and anxiety that can come with family illnesses be part of why you sink under the weight of what is on your plate.  I wish I could go back and tell myself that indeed I was good enough to care for this child, that I was up to the task. History has proved that I was, so far, yet I didn't invest appropriately in my own health and well being and I very nearly blew it.  Having other family issues come along means I can no longer cushion the blows with pain meds and anxiety drugs, so now I must do it all sober, which is both harder and easier, and now I need not engage in further beating myself up for daily acts that affirm my negative beliefs. But I wish I had forgiven myself sooner and in a less gut wrenching fashion.  So my message to other parents who have similar burdens to carry, take care of you, so you can take care of the kids.  You deserve to be proud of what you do to serve your kids of every flavor, and to be good to yourself.

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