Hi and welcome to our blog. I decided to restart blogging because this is the most efficient way to keep everyone correctly informed on our daily life and to create a space for me to lay out my thoughts...
So first lets recap Phillips journey over the last couple years. At birth Phillip was happy and seemingly a healthy normal baby. At about 3 months old he was hospitalized for about a week and officially diagnosed with severe reflux. At 5 months old he was diagnosed failure to thrive, meaning he was not gaining weight properly. He was then hospitalized for about a month and had a NG tube (feeding tube via nose) put in. He kept the NG tube until September and then had a G-tube (feeding tube in the belly) surgically put in place. During his month stay at Vanderbilt they discovered that he had a rare genetic disease. His official diagnosis is a deletion of the X chromosome in the steroid sulfatase region at xp.22.3. This includes X-linked form of ichthyosis, a not so common skin issue causing the skin to be extremely dry and scaly. They concluded his FTT was due to his body working overtime to absorb enough nutrients to replace what he is losing through the skin. Basically he has to consume more calories than the average person his age. He was hospitalized many time for seemingly common illnesses that for him become serious. He has what they call Primary Immunodeficiency. This means that part of his immune system doesn't work properly. So he started what they call IVIG treatments at the hospital. IVIG is kinda like having an antibody infusion. We went in once a month to the hospital to the infusion floor and spent most of the day there getting his infusion. Very quickly his veins all gave out so we decided to switch to doing it at home weekly via sub-q. Sub-q means we use very tiny needles and that slowly release the medicine under the skin for his body to absorb over the next several hours. This method has worked wonderfully for Phillip. He has been far more healthy than he had ever been. Sure is isn't fun. It takes just over and hour to infuse and he is a little sore for the next day or so but it is what works for him. Phillip also has to have feeding therapy once a week. Since he has several GI issues he has difficulty wanting to eat. He often vomits for no apparent reason and usually has diarrhea. He also is delayed physically so he has physical therapy. He has to have braces on his legs because he toe walks and now his tendons have shortened. We recently learned that he is delayed with some motor skills and has a sensory processing disorder. He now undergoes occupational therapy once a week for those challenges. Sensory Processing Disorder means he cannot process things the way we do. Sounds, sights, smells all easily overwhelm him. He reacts in ways like head banging, hitting, throwing himself as hard as he can on the floor, spinning, ect. Here is a website to help explain SPD: http://www.sensory-processing-disorder.com/
We also know that Preston and Payton suffer from the same deletion as Phillip but have much less severe symptoms. We know that Preston has SPD and are working on getting him in to occupational therapy and are having Payton evaluated to see of he does too. So this is our journey. We have spent countless days at the hospital with them going through countless tests and procedures. We have consulted doctors at Cincinnati Childrens Hospital and our team of doctors have gone as far as Baylor to look for answers. The doctors tell us this disease is very rare and they cannot find studies anywhere on people who carry this. This means we have no idea what tomorrow may hold for them. So, we trudge along. Taking it one day at a time and when even that seems overwhelming we take it one hour at a time. The past few years have tested us beyond measure. There are some days when I feel like every time we turn around there is someone else telling us there is another thing wrong with our kids. But we fight a good fight. I talk to their therapists, question their doctors, talk to other moms who kids have these struggles, and I research almost non-stop. As their mom it is my duty to fight for them and be their voice. I love my kids beyond measure and would do anything to to provide them with a happy life.
I guess that about sums it up! Kind of a readers digest version of the last couple years!!! Hope this helps you get a better understanding of what our life is like! Please feel free to email or call us anytime you wanna talk or have questions!!!
Thanks for visiting!!!!!!!!!
