Sunday, May 15, 2011
Diagnosis - BBS
It turns out that those extra toes meant something. At 3yrs old, Max was diagnosed with the rare genetic disorder, Bardet Biedl Syndrome. What does that mean for Max? Max has developmental delay, a degenerative eye condition (retinitis pigmentosa) that will eventually lead to blindness, obesity, from not having the nerve signal fullness leading to uncontrolled eating, possible infertility, and yes polydactly (extra digits on the hands or feet). So now we know what we are dealing with. And so, it begins...the 5 stages of grief, until acceptance. To be honest I don't know if I will ever make it to real acceptance, because we fight every day to make life what it should be for Max. Sometimes, I feel we don'tfighthard enough, sometimes I feel we fight too hard, but my end goal is for Max to be happy and to experience as much as he can. It doesn't matter what that looks like for me, it only matters what that looks like for Max. My baby who has now grown into a 16yr old man.
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We are all here for you. We were fortunate knowing Sabrina's condition when she was just 2. She will be 14 in a few weeks and we have accepted, but we continue to fight for her, for her rights, for acceptance, for education, for medical care, for understanding, for knowledge in the medical community: that is why a few of us founded the LMBBS Association, to bring awareness of this condition to the community. We want to make a difference in our own, small way. And while we are making a difference we are supporting our own. We are here for you.
ReplyDeleteClaudia
Acceptance...do we ever really make it to FULL acceptance? I know there are times that I feel like we have accepted BBS as a part of our lives, and we are strong, we fight for what our children need/will need, we accept BBS...until another BBS milestone unfolds. When this happens we go through all of the stages of grief again, so do we ever really have FULL acceptance? I don't know if we ever will until we know that Lucas and Abby have acceptance. You are right, it doesn't matter what any of this looks like or feels like to us. What is most important is what it looks like and feels like to our children. That is one thing that I love to see in our BBS family...the experiences and thoughts of our adults/teens with BBS, they are all inspiring and wonderful role-models for us as parents and our children!
ReplyDeleteDarla
Darla