We have a diagnosis. Yes, finally we have a diagnosis. I am not quite sure if even two months later this has properly sunk in. A clue from the DDD (Deciphering Developmental Disorders) Study and a skin fibroblast test sent to Holland has confirmed a diagnosis for Finlay.
As expected, it is very rare. Most children with this disease do not survive past the age of two, so we are tremendously lucky to still have him. It also confirms that there is nothing we can do, but to enjoy every laugh, every smile, every ‘I love you’ for as long as we can.
Living with an undiagnosed child was a nightmare. Every day I worried about what we may have been missing and that we could have done more for him.
Knowing now that there was nothing more that could have been done to have helped my son has given me peace of mind. With this diagnosis, however, there is sadness too; the tiny glimmer of hope that we could have helped him is gone.
A diagnosis has also meant that there are new tests to go through. Certain conditions known to be a part of the diagnosis need to be investigated. It may be that some different medications are more appropriate for him to alleviate some of his pains. Decisions about not going through surgical procedures are easier to make.
Already it seems that having the diagnosis makes medical decisions so much easier.
SWAN UK will always be an important part of my life. Having the diagnosis does not exempt me from the group of families who have supported me to date. There is also a ‘SWAN graduate’ group on Facebook.
I value the friendships made both in person and virtually through SWAN UK. It is difficult, however, seeing the ongoing frustrations of many families still waiting for that diagnosis, and knowing how devastating every negative test can be. I really hope that the progression of genetic testing will mean that in the future families do not have to go through the torturous wait that we did to get a name for a condition.
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