Tuesday, December 9, 2008

Finally Some Answers...




So we just got back from spending practically ALL day at UCLA with Macalan meeting with doctors and getting more bloodwork done. We are thankful to finally have an answer as to why things happened in his little body when he was first born. The doctors have come to the conclusion that he has what is called pyruvate kinase definciency disease. They will not know the severity of it until his blood levels "settle" which does not happen until 4 months to 2 years of age, but basically what we were told is that we really just need to watch him when he gets sick (with colds, etc.) because that is when possible problems would arise. They will continue to check all of his blood levels to make sure blood transfusions are not necessary. We are so thankful that we trust in a sovereign God who has had His hand in all of this and are thankful that for now Macalan is thriving and doing so well (he even slept from 10-5 last night...so he is my little champion)! Below I will cut and paste some info on the disorder for those who are curious...



Definition:
Pyruvate kinase deficiency is an inherited deficiency of the enzyme pyruvate kinase, which is used by red blood cells. Without this enzyme, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia).Pyruvate kinase deficiency is transmitted as an autosomal recessive trait, which means that a child must get the defective gene from both parents to develop the disorder.
There are many different types of enzymatic defects of the red blood cell which can cause hemolytic anemia. Pyruvate kinase deficiency is the second most common cause of enzymatic-related hemolytic anemia. (G-6-PD deficiency is the number one cause.)
Pyruvate kinase deficiency may produce mild or severe hemolysis and anemia. Problems may first appear in the newborn as prolonged jaundice and anemia. Older children may be pale (due to anemia) and have intermittent episodes of jaundice.


Treatment:
Blood transfusions may be needed for severe anemia. Removal of the spleen (splenectomy) may help to reduce the destruction of red blood cells; however, this should not necessarily be performed as it does not help in all cases. In newborns with dangerous levels of jaundice, an exchange transfusion is likely to be recommended.
If a splenectomy was done, the person should receive pneumococcal vaccine at recommended intervals.


Expectations (prognosis):
The outcome varies. Some people have few or no symptoms, others have severe symptoms. Treatment is usually successful in reducing the severity of symptoms.
Complications:
Gallstones, composed of bilirubin produced in excess during hemolytic anemia, are a common problem. Severe pneumococcal disease following splenectomy is a possible complication.

2 comments:

Jenny M. said...

Hey Caitlin! So glad to hear you got some answers. Thanks for updating your blog so we can all continue to pray for your little guy! I'm going to add your blog to my friend's list!

Take care!! Jenny

Chris Kim Kinsley Cooper said...

Caitlin..I am so excited that I found your blog. I knew that you had Macalan, but I didn't see any pictures. He is just gorgeous and oh so smiley! I would love to set a playdate for Kinsley and Taeden then you and I can see each other. I will try and get a hold of you after Christmas. Love you friend and once again I am so excited that I found this off of Kirra's favorite blogs!