Brisan Stults was born on August 27th, 2004. He was a healthy 8 pounds and 2 ounces and 21 inches long, he was a “BIG BABY”. Brisan was not the best baby, he was colic and had RSV until he was about 6 months old. At his 6 month check up the pediatrician noticed that his liver and spleen were enlarged. As any normal physician would, she sent us to Children’s Mercy to have it checked out. Sure enough his liver and spleen were the size of an adults. This is where it all began.
Two months and hundreds of tests later (including Cystic Fibrosis, Niemann Pick A & B, and every other common disorder), Brisan was given the diagnosis of CMV (cytomegalovirus). A virus that everyone gets at some time or another. However, with Brisan because of the RSV when he was littler, he already had a weakened immune system, he could not fight it off. Forcing his body to have these side affects; enlarged liver and spleen and some feeding and weight gain concerns.
So then for the next two years we lived with this diagnosis. It was not the best diagnosis that there is, but it was manageable. Until one day, Brisan was about 2 1/2 years old, when I noticed that some other kids his age were talking really well. Brisan at this point only said 5 words: dada, ball, more, eat and dog. After talking with a friend I came to the conclusion that he was quite delayed and needed some help; First Steps. First Steps is an early intervention program run by the state of Missouri. They provide home based therapy for developmentally delayed and special needs children from birth to age three. This was what he had been needing for two years now! Brisan was only in the First Steps program for about 5 months until he transitioned into the local Early Childhood Special Education program or ECSE.
Brisan is still in ECSE four days a week for three hours a day. He loves his teacher, Mrs. Willard and his aides. In the 2007 – 2008 school year Brisan made some great progress in the areas of speech. He is now talking our ears off! (He is hard to understand but you get the picture after a few minutes.) He is normally talking about something to do with Veggie Tales. Brisan and Veggie Tales have a strong bond. We own almost every one that was ever created. These are christian based cartoons that are Veggies! They all have a Bible theme that goes along with the little 60 minute story. They are really great! We would be lost with out Veggie Tales most days!.
However, in the beginning of the school year last year Brisan broke his right leg. He had several different casts on for about 6 weeks. But, when those casts came off he didn’t know how to walk or even put weight on that leg. This is when we really started to see some concerns. So Brisan started Physical Therapy with Scott Knoche and Cassie Woods. Brisan has a really strong bond with both Scott and Cassie! We really miss seeing them every week. But, who knew that on September 8th, 2008 our lives would forever be changed. You see, Brisan had his tonsils and adenoids out the end of May. Apparently, his tonsils came back abnormal for foamy macrophages,fat deposits within the cells. After several appointments with the Genetics Clinic at Children’s Mercy he was diagnosed with Niemann Pick Disease Type C.
Niemann Pick Disease Type C has to do with the way that the cells transport cholesterol. It is a degenerative neurological disease that is ultimately fatal. It usually starts to affects children of school age (4-7 years old) by interfering with their ability to metabolize cholesterol. Consequently, large amounts of cholesterol accumulate within the liver, spleen, and brain. This metabolic disorder leads to a series of neurological problems that are ultimately fatal. NP-C (Niemann Pick Disease Type C) is estimated to be 1 in 150,000 people worldwide, with only a couple hundred cases diagnosed in the world!
Currently, NP-C is starting to show up. Here are some of the symptoms that Brisan is having: Enlarged liver and spleen, developmental delays, Speech delays, Low muscle tone, loss of muscle strength, and severe nose bleeds. He is receiving speech therapy, occupational therapy and special instruction. Plus, on his 4 year check up we made the decision to place Brisan into a Rehabilitation Program along with aggressive physical therapy to help him to have mobility as long as possible. In most neurological cases the first thing to lose is gross motor skills.
**For more on Brisan, click here