Sophia has Battens Disease and now it seems she has another complication that is making treating her and giving her a good quality of life even more difficult.
Here is an update from her facebook page:
I'm sorry that I haven't kept you guys updated. I just needed a day to cry, be depressed, and reflect. Sophia's ultrasound results show that she has kidney disease. To be exact, she has Renal Tubular Acidosis. Her kidneys are not filtering acid from her body like they should, resulting her being acidotic. This is what caused her dehydration, vomiting, and lethargy. The nephrology doctors (kidney doctors) do not know why this has happened. It is something that occurs with kids on the ketogenic diet like Sophia but she has been on the diet for over a year and this has never
happened before. Usually, it would occur within weeks of being on the diet. Sophia is losing huge amount of bicarbonate, which is like baking soda to help neutralize the acid in her body. Her body is trying to correct the acid level, so she is breathing very rapidly and taking shallow breaths. The nephrologists recommended that she be removed from the ketogenic diet. While this may seem like a simple solution, it is anything but. Before Sophia was placed on the diet, many, many medications were tried with none being successful. The diet was a last resort because it is quite restrictive and time consuming but it worked for Sophia. Prior to the diet, she was having upwards of 60 seizures per day. So taking her off the diet, opens her up for those seizures again. The neurologist stated that Sophia’s seizures are not life threatening; I explained to her quite quickly that until she has watched her own child lie in the bed having a seizure over and over, she cannot tell me what is life threatening. She quickly agreed. I also explained to her that seizures affect Sophia’s quality of life of which she has precious little left. Still, Jacob and I felt that we had to try so Sophia’s ketogenic diet was significantly reduced. She is receiving more protein and carbohydrates than she ever has before. Since the change, her carbon dioxide level has increased and her blood urea nitrogen level is a little better too. However, some other levels remain low. The nephrologist said he has no idea if coming off the diet will even work and if it doesn’t, he is not sure what the next step will be. The diet is still in her system for now, so she remains in ketosis, thus no seizures. However, over the next few days, as she leaves ketosis, her body may begin seizing. At that time, we will have to make a decision that will benefit her kidneys and help control seizures. It will be a balance, with no good answer. The nephrologist said that her kidneys are not in failure at this time, but if this doesn’t resolve, it is a very real possibility and it is life threatening. I could go on and on about my thoughts on this, my fears, concerns, disgust, but I won’t at this time. I just wanted all of you to know what is going on with sweet Sophia so that you can pray for her and be thinking of her over the next few days, in hopes that the doctors will figure out what to do.
Isaiah 53:4-6 NASB
Surely our griefs He Himself bore,
And our sorrows He carried;
Yet we ourselves esteemed Him stricken,
Smitten of God, and afflicted.
But He was pierced through for our transgressions,
He was crushed for our iniquities;
The chastening for our well-being fell upon Him,
And by His scourging we are healed.
All of us like sheep have gone astray,
Each of us has turned to his own way;
But the LORD has caused the iniquity of us all
To fall on Him.
Thank you so much for interceding for these dear ones. When it rains it pours.
Praying and praying,