TO THE ATTENTION OF AFFECTED BABIES’ PARENTS
Most likely, by the time you have found about us and made up your mind to get in touch with us, you have already endured some hard experiences filled with incertitude and worry, when not anxiety or fear for your most beloved one: your baby.
In the best of cases, your baby has shown some symptoms of weakness when breast-feeding, crying or trying to open the eyes. After going to the paediatrician and discarding any other kind of complications, the doctor might have thought it could be any of the myasthenic syndrome varieties and has finally confirmed your baby suffers from congenital myasthenic syndrome. You may even be in possession of the genetic study that names the disease.
Unfortunately, it is much more likely that your baby has already presented more severe symptoms of the condition and, depending on the virulence of these, you have finished at the urgencies service of some hospital with or without previous consultation with a paediatrician. In the hospital, after an initial surprise, and again, depending on the virulence of the seizure, they might have decided to hospitalise your baby or send you all home. In the case of a hospitalisation, at least your baby has been under control and monitored, avoiding risks that could have been literally fatal.
But you must have been through much more. An infinity of inconclusive tests (from spinal taps to MRIs, covering an unending list of analysis of potential metabolpathies and any other rare disease). It may be that, as you read this, your baby is at the ICU, breathing through tubes if he or she has presented any cardio or breathing crisis the doctors could not explain.
Having reached this point, the seizure may have dissipated and you may even be back home without a diagnosis -with the risk this implies-. Or, it could be that after numerous tests and elucidations, the doctors have managed to diagnose the disease. If this is the case you are aware of how lucky you were and your baby must be on some kind of medication (pyridostigmine, almost certainly) which is helping her a lot. Depending on the cases, you might have been given an apnea/beat monitor, to provide you with some tranquility while the baby sleeps.
But there is more to it. After days or weeks medicating your baby, never quite sleeping, you experience a feeling of isolation aggravated by the relative lack of information about the disease. Though the doctors calm you down if the clinical response is good, you don’t have any reference of other cases. And when looking for them on the internet, most of the information available talks about the “myasthenia gravis” but there is next to nothing about the “congenital myasthenic syndrome”! And this is why you are now looking for us.
Finally, thanks to the paediatrician that had to deal with a similar case in the past or is currently doing it, you were given the phone number of another affected family. Or perhaps the doctor gave you the contact of one of her colleagues who told you about a reference centre in Spain. It may be that after insisting at akin organizations for the so-called rare diseases, you have contacted our association, got to talk to us, met us and by now, you feel much less on your own and much more understood. We have also provided you with very useful information ranging from non-advisable drugs to the advantages and drawbacks of attending kindergarten. At last...
But this road is far too long. It has taken you an awful amount of time to find us and this should not be this way. There are many things to change in order to make things a “little bit” easier to the parents of the next myasthenic baby and this “little bit” means a lot.