The Joy of Jacob: March 2014

Sunday, March 2, 2014

Watch Our Love Grow

It's been a while since I've posted and I can assure you that this blog post was worth the wait. We've had a lot going on over the past few months and have some exciting changes underway. With that, we are beyond thrilled to announce...

That's right folks, you read that correctly! Kelly is going to be a BIG SIS!! Our family will welcome a new little bundle of JOY sometime towards the end of August. The best news is that we've completed all the appropriate genetic testing and confirmed that our newest addition does not have Niemann-Pick Disease! We are so unbelievably happy and feel incredibly blessed to welcome another baby into our family. Little Miss Kelly Joy (so appropriately named) has brought such an abundance of joy and laughter into our lives; reaffirming our belief in God's perfect timing and giving us a reason to smile every day. We are so excited to watch our love grow even more.

I'm just over 15 weeks pregnant and feeling great! You might be wondering...Pink or Blue? Well, we decided to wait a bit longer to find out. Since we completed extensive genetic testing, my doctors already know the baby's gender, but we wanted it to be a little bit more special than an anticlimactic phone call revealing the results. Truth be told, all I ever need to know is that our baby is healthy! I wanted to wait until the baby is born, but between the 'planner-side' of me and a hubby/daddy who needs to know, we have ultimately decided to find out at our 20-week ultrasound. Meanwhile, Kelly responds very excitedly with the word "Yeah," when we ask if she's going to be a big sister. In fact, she is already working on mastering two new words: "bro-thurrr" (brother) and "siss-terrr" (sister). For now, guess we'll all have to wait and see what gender Brooks Baby # 3 will be!

Niemann-Pick Disease

Niemann-Pick Disease is a lysosomal storage disease, which causes fatty substances called lipids to collect in the cells of the liver, spleen and brain. The disease is genetically-inherited, but it is considered a recessive trait. In order for a child to have Niemann-Pick Disease, both parents must be carriers of a genetic mutation causing Niemann-Pick. There are three main types of Niemann-Pick Disease -- Types A, B and C. Types A and B are also referred to as acid sphingomyelinase deficiency (ASMD).

Genetic testing revealed that Jacob had Niemann-Pick Disease type A/B (also referred to as an intermediate form), which is a combination of the most severe and the least severe form of the disease. His body produced a very minimal (3%) amount of an enzyme called acid sphingomyelinase (ASM), which helps break down fat. Since Jacob’s body didn’t produce much of this enzyme, his body had great difficulty getting rid of ASM. The sphingomyelin had nowhere to go so it accumulated in his cells, eventually causing cell death and the malfunction of major organ systems.

Those with Type A typically live to be only 2 to 4 years of age, whereas, patients with NPB generally have little or no neurologic involvement and may survive into adulthood, though there may be health complications. Type B individuals usually have enlarged livers and spleens, and respiratory problems are common. The enlargement of organs and the respiratory problems can cause cardiovascular stress. With Jacob, it was unknown what the exact progression of his disease would be. Shortly after Jacob's diagnosis, it became apparent that his disease was presenting in a more aggressive form and he did have neurologic impact. There are approximately 1,200 cases of type A and B worldwide with the majority being Type B. Unfortunately, there is currently no treatment or cure for the disease and care is mostly supportive.

The Joy of Jacob

Sunday, March 2, 2014

Watch Our Love Grow

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