Thursday, September 25, 2014

I am more deficient as a parent than I thought

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

11 comments:

Jani said...

Answers, finally! First, I am so, so grateful for the doctors that were able to pinpoint Little Dorrit's condition and help you know what had happened with your other daughters.

We will continue to pray for inspired care for LC and for healing and comfort for you all.

Kelly said...

I am so happy you are getting some answers about your girls!! Thank you for posting such a detailed explanation and update. We appreciate knowing what's going on with your sweet baby. We love you guys and are praying daily!!!!

Anonymous said...

I don't know if this is in anyway helpful, but I have been reading a lot about Serrapeptase, an enzyme that dissolves blood clots, removes buildup in arteries and more. It is a blood thinner and should not be used with other blood thinners such as wayfarin,asprin, ibuprofin. Below are some links about it- one is information from a German doctor that has researched it and the other is where you may read amazon customer reviews.

http://www.agriorganics.com/natural.php?Pid=46

http://www.amazon.com/Doctors-Best-Serrapeptase-Units-90-Count/dp/B000EDCJ3Y/ref=cm_cr_pr_product_top

Wishing your daughter and your family the very best.

Natalie R. said...

I hope the answers give solutions, and that your little girl will be okay! My family and I are praying for your family!

Benedict Blessings said...

I would love to see all the prayers going heavenward in your behalf. It may look like fireworks in the night sky. We love your family so much.

Jenny said...

Finally some answers! This makes me hopeful that by knowing the problem there can be answers that will help your sweet girl.

Jordan said...

I've been praying you would finally find some answers that may be relevant to your other girls cases - but fearing for baby that she would have the same thing. hope the medical team is inspired and guided to a helpful treatment for her and more answers and solutions to try. Looking forward to the next update - and know so many are praying for you and your family!

Anonymous said...

Your family is in my thoughts and prayers. Michele B.

Cormorant said...

Grateful for answers and still praying for miracles!

Mandy Condic said...

I somehow came across your blog on Instagram and wanted to reach out to you. Our 3 year old daughter also has homozygous protein c deficiency. We have yet to connect with anyone who is going through a similar situation. We are blessed that she has not had any set backs and is thriving off ceprotin but it's always nice to hear from others. My email is mandy.condic@gmail.com if you would like to connect. Best wishes

Mandy Condic said...

Hi there, I somehow came across your blog on Instagram. We also have a daughter who is 3 with homozygous protein c deficiency. If you'd like to connect or have any questions we'd love to chat.