I know I have been completely inconsistent with keeping this blog up-to-date. I am really hoping to catch things up and be more regular VERY SOON! It just seems like life spins and spins and spins.
However, there are so many of you who pray for Clara and ask for updates on her, that I didn't want to wait until I had caught everything else up before giving you an update on her latest visit with the geneticist.
The bottom line is: She is stable. Dr. K said that she looks great. Pending the results of her blood work (and we don't anticipate any surprises there), she will not need to see her for a year. Clara absolutely adores Mr. and Dr. K., so there is tons of giggling. But between all the giggling and the fun, we did get some information. :-) As hard as it is to believe, Clara has been undergoing treatment for her rickets for a year! Unfortunately, there are still no signs of healing. Her body is extremely phosphate resistant and wastes everything we put into her. In the meantime, her right leg is turning in worse and she is increasingly in more pain. Dr. Kendall is not the one who treats her for the rickets, despite being the one who (finally) diagnosed her (praise God), but she recommended that we get a second opinion. It may be that we are doing all that we can, but she felt it would be good to find another specialist in the field (and they are few and far between) and consult, even if it's just for our peace of mind. She gave us some websites to research and said it would be best to find journal articles written on the subject to see who is doing research and see one of those doctors....even if we have to fly across the country. We need to get the rickets healed up for many reasons, including growth, pain, etc., but her orthopedist cannot fix her right leg until the rickets is gone. In the meantime, damage is being done to her lower back and hip. Talk about feeling out of control.
As far as the mito is concerned, Dr. K said that if Clara had responded to the rickets treatment and all of her symptoms had been resolved, she could very comfortable wean Clara off of her medications and consider the possibility of removing that diagnosis. However, since the rickets has not been resolved, we cannot rule out mitochondrial disease, therefore, she has to continue on on with her mito cocktail. She said that the mito meds could be the reason she is so stable and feeling as good as she is, so we don't want to mess with that. I agree.
So...we continue on. Her treatments are remaining the same, for now, and we are pressing on to find out all we can to make our sweet girl better. I will be diving into medical journals to find her another endocrinologist, even at the risk of upsetting the one she currently has. If I have learned nothing else in the last five years, it is that sometimes you can't worry about hurting a doctor's feelings when it comes to the well-being of your child. So I will press on.
I will update more later. I cannot tell you how thankful I am for so many who love Clara and our family. Thank you for your love and prayers!!
Have a great day!!
P.S. This was typed extremely quickly, so please forgive any grammatical errors. :-)
5 hours ago