Bertrand is not worried about his MRI. He has more important things to do.Today I had a talk about Bertrand's most recent MRI with our favorite neurologist, my dad. I think it broke his heart to tell me that he agreed with the radiologist's opinion. Compared to Bertrand's first MRI, he saw white matter loss and an enlargement of the ventricles (in likely compensation). In his opinion this was consistent with an inborn error of cellular metabolism--a remote ischemic insult seems unlikely.
This is by no means new news. We learned about Bertrand's brain damage almost 8 months ago and we've known for over a year that Bertrand's condition has some kind of genetic basis. I just wish that after all poor little B has been through (with the scars on his arms, hands and feet to show for all the blood draws) we had a lead!
If we could only put a name to his condition, then maybe we could find a corresponding enzyme treatment (which has done wonders for children like Bertrand's friend Hannah with Gaucher's disease). If we had a name, then maybe we could do more.
Now, all we can do is keep doing what we're doing--loving and doing the best we can for B--and leave on the blinders which allow us to live day by day. If I kept the prognosis for individuals with errors of cellular metabolism at the forefront of my mind, I would never get out of bed. I would never be able to be the mother Bertrand needs me to be. So we'll keep living each day of 2010 to the fullest, and hope you all do the same.
Poor little bug - what an awful way to start the new year. I hope, I hope, I *hope* that you can find out what exactly this is so Bertrand can get a specific treatment.
ReplyDeleteHere is a website that may have some additional information for you. I am using for my own special needs son. It for The National Inst of Health (you will have to cut & paste).
ReplyDeletehttp://rarediseases.info.nih.gov/Resources.aspx?PageID=31
Sange, thank you! Your continued support means a lot to us. I've tried to send you emails in the past, but I guess blogger won't let me. I'd love to hear more about your son and your experiences. Many thanks again and I hope that the new year brings good things for your family!
ReplyDeleteI know that 2010 hasn't started the way we all hoped and it has been a rough couple of days; but, Cristina, know that if there is ANYTHING I can do for B (or you and Matt!) at all, please let me know. Sending love and positive thoughts every day.
ReplyDeleteCristina,
ReplyDeleteThank you for the compliment! My e-mail is Thdoy2@aol.com. I am sorry that the e-mail didn't work previously, I do not know why. Please contact me anytime and I will e-mail you ASAP.
Ok, so perhaps not the best start to 2010, but definately the MOST ADORABLE!!!! Little B with the little Mac it too cute :)
ReplyDelete