The loss of a child for any reason is unacceptable, heartbreaking, and tragic. I try on the idea of ‘there is always a silver lining’ but find the phrase just doesn’t fit in many cases. I do think, through our tears, we can learn something…so forgive me for ranting.
As parents, we need to be vigilant. We need to ask questions and expect answers. We need to be better informed about steroids and more knowledgeable about risk. We need to understand:
1. That complaints of belly pain should be investigated.
2. That 'bugs' at school are BUGS to a child on steroids and have a much greater effect due to immune suppression.
3. That if there are any concerns whatsoever, take your child to the ER and make sure everyone who touches your child knows he is on a steroid regimen (and whatever else he is taking)
4. That we actually need an 800 number of on-call experts to be available for guidance to primary care docs, ER docs – anyone who cares for our sons. I'm not sure about your house, by my children never got sick when the clinic was open, rather they got sick in the middle of the night or on a weekend when the 'regular' doctor was not on-call and a partner was taking is call. The Duchenne community has to have some ability to connect to experts 24/7, no matter the time of the day, the holiday or weekend. It is unforgivable that they see experts every six months to one year and then have no communication system in place for questions and/or emergencies. This is critical now for sure, and will become an even greater issue in the future as children participate in clinical trials, often traveling great distances and returning home in between visits.
5. The primary care doctor and rural ER may have insufficient understanding of Duchenne, no knowledge of the pathology, no experience with regimens (steroids, supplements, ace inhibitors, etc.), and will be totally lost if someone mentions (for instance) antisense oligonucleotides (or even exon skipping).
Steroids are the gold standard and we certainly don't want to have all parents stop steroids. At the moment, steroids are the ONLY drug that has been shown to have benefit in Duchenne. As you know, when boys start steroids, most (except for the nonresponders) boys improve in strength. They are able to do thing that have been impossible and out of their reach. They jump, they run, they ride bikes, and they are better able to keep up with peers.
But we have become pretty cavalier and I think we have all taken steroids for granted. Clearly the physicians discuss the predictable side effects: growth delay, delayed puberty, increased hair growth, and cushionoid face. We accept these side effects somehow, though, for our sons because data suggests they will walk longer – and walking, for most parents, is a goal in itself, no matter the consequences.
What is not typically said, stressed, or repeated often enough, is that steroids can cause other major problems such as ulcers and that they can mask fever and infection, sometimes until it is too late. Parents are not given adequate information or tools. Pain in the gut cannot ever be dismissed. Dystrophin is absent in the smooth muscle as well, and while few of our boys ever see a GI, the other side of the coin is that there are few GI doctors with experience in Duchenne. Parents need to have alarm bells in their head. If you are worried and your primary care doctor does not respond as you think he/she should, go to the ER.
As parents, we need to listen to what our child is saying to us, we need to understand what the doctors are giving our child, and we need to maintain a realistic perspective. As part of the Duchenne community, we have to be vigilant in educating physicians, in fighting for better “round the clock” care, and be prepared to work together to ensure a safe, healthy future for all of our sons.