Today was a bit better, though at this time my mind is swimming as Aria and I have spent the evening immersed in hematological journal articles and medical texts. I apologize if this post is not very cogent. We met with the team of doctors and the hematologist had some news for us. They received the results of yesterday's blood test and discovered that Aria and I are both low in our protein C production (Aria was a 59, I was a 53, and the low end of normal is 60). Protein C aids the blood in cloting. Sadly and statistically uncommon, Aria and I are both recessive for protein C deficiency and it is hereditary, meaning each of our children had a 1 in 4 chance of becoming protein C deficient. Little Dorrit's test was unable to detect any protein C in her blood. She has been diagnosed as protein C deficient which increases the risk of developing abnormal blood clots. In severe cases, such as Little Dorrit's, it is characterized by the formation of blood clots in the small blood vessels throughout the body. Due to the blood clotting the body uses up all the available blood clotting proteins.
This is an incredibly rare disorder. According to the U.S. National Library of Medicine, severe protein C deficiency affects an estimated 1 in 4 million newborns. Additionally, due to the blood work done on Little Dorrit and my wife and I, in conjunction with the medical records of our other girls, the hematologists believe our first girl suffered from the same condition. The second may have also but due to the limited data involving her case they are unable to make that ruling. The numbers are staggering for one child to have this issue, let alone two, maybe three of our four children being protein C deficient. Trotwood will need to be tested at a later date as he may be recessive for it also.
Due to Little Dorrit's deficiency she has also developed Disseminated Intravascular Coagulation (DIC). DIC is a condition in which blood clots form throughout the body's small blood vessels, this clotting uses up platelets and the clotting factors in the blood (hence her need for two platelet transfusions a day). Due to DIC her blood becomes over active and with fewer platelets and clotting factors in the blood, serious bleeding can occur even without the presence of injury, such as in our first daughter.
As you can imagine we are thankful to finally be getting some answers after six years of wondering what has happened with our girls. Conversely, we are saddened that Little Dorrit has such a serious issue and remains very sick. Due to the rarity of her issue there is little literature on the subject. Her doctors have never seen a case of this, thus a prognosis is yet to be made. She continues to need prayers and inspired medical care. We are thankful for all the prayers, sacrifices, and well wishes of everyone out there and are hopeful that Little Dorrit will be able to participate in our family in mortality. -EA