MRI Results

The MRI results showed his pituitary is fine and his brain is fine but found a massive sinus infection. The pediatrician wants to put Paul on a three week dose of antibiotics. She said not to worry that this is indicative of PI. She doesn't believe from his previous blood work that he has PI. She did say kids with PI have significantly lower white blood cell counts than 3.2 and are unable to make new ones. I desperately want to believe her. The sinus infection was the ONLY symptom of PI that Paul has not experienced. I have to trust she knows best. We have a follow up with Dr. Tarr at Childrens on Monday to go over options for stomach pain and IBS relief. We are also going to look into doing a food allergy test that identifies specific foods he may have reactions to eating. Maybe this will be helpful in identifying exactly what he needs and help relieve some of his symptoms too.

PI, Fructose Intolerance and the MRI

I called the pediatrician yesterday to ask her about PI. She had never heard about it. She asked me to fax over the information that I had and told me she would get back to me after doing some research herself. She said Strep Throat would not be considered one of the infections that would count. Even without the Strep Throat, Paul definately qualifies symptomatically with the bronchitis (twice last year) and ear infections (although most of those weren't this year, they were during infancy and toddlerhood). I am hoping she calls back today to tell me PI is NOT IT. It is just so hard for everyone to believe and understand why someone wouldn't have the ability to process a simple sugar. Most sugars have been completely eliminated for 6 weeks or so, and Paul still experiencing a tremendous amount of pain, nausea and misery. Paul Sr. and I both have been researching Fructose Intolerance. We both read even normal functioning individuals can't tolerate more than 35-50 g of Fructose. They gave Paul 45 g for his test. It just doesn't make any sense. 1/3 of us would probably flunk the test. I will wait to hear back from the pediatrician. His MRI went well last night. They said he may be dizzy today, so he is staying home this morning. I will post as soon as we hear. I don't suspect the pituitary to show anything though. It wouldn't be causing all of these GI issues.

Is it Coincidence?

Yesterday, my sweet friend was asking me if I know anything about PI (Primary Immunodeficiency). Of course, I haven't heard anything about it and got too busy to even mention it to Paul Sr. Last night, he came home with information from his brother on PI. Is it coincidence? I read the disease description and signs and symptoms and immediately felt confirmed in my heart "THIS HAS TO BE IT". I don't want to jump to conclusions, however, after reading the information from INFO4PI.ORG, it explains literally EVERYTHING that has been going on with Paul. It said the disorder first presents itself as recurrent bacterial infection at infancy, then early childhood, and during puberty and then much later in life. Paul had chronic ear infections as a baby and toddler with finally getting tubes (twice) to correct the problem. He still doesn't like to get in a swimming pool because he knows he will get an infection. He gets repeated bronchitis during fall and winter months every year and this last year is when the Dr. put him on Singular to get him through the winter. He had at least 7 bouts of strep last year back to back with only temporary relief on the meds. This year he has been complaining of "his whole body hurting" but specifically is knee and ankles. He has EVERY symptom of the gastrointestinal issues since this summer but EVERY DAY since December 19th. Some patients can develop auto antibodies which can attack and destroy white or red blood cells. The gastrointestinal problems can impair normal growth and weight loss which has already happened. The big one that really put it together in my mind was the fact that most of these people are unable to absorb sugars (Fructose) and/or fats! Other patients develop overgrowth of intestinal lymphoid tissues. The reason: B-cell defects. We should have gone to the geneticist. Complications include recurrent infections, damage to heart, nervous system (hmmm, this might explain the weird neurological symptoms of dizziness and numbness in the legs) or digestive system (which we already know has been the worst), slowed growth or weight loss, and increased risk of cancer. I did a little more research before bed and haven't been able to sleep all night. This would answer all of the problems that are such a mystery. Treatment would include intravenous gammaglobulin doses every 3-4 weeks. In other words, a healthy donor's blood to restore normal antibody levels (which does not usually replace the antibody deficiency but helps with symptoms). The other option may be a bone marrow transplant or continued use of antibiotics to fight infections. While he is symptomatic in every area of this disease, these would have been serious red flags to the doctors, right? The Dr. isn't really concerned about the low white blood cell count, the chronic infections, and the stomach problems and has never had a case of Fructose Intolerant to really know what is "normal" for the disease. I am going to put a call into her tomorrow to rehash all of his blood counts to see if he had abnormal levels of immunoglobulin (infection fighting proteins) because abnormal numbers of certain cells can indicate an immune system defect. I don't want to jump to conclusions. We know his white blood cell count dropped in half from January 30th (6.1) to mid March (3.2) but if she is not concerned; then in my mind that is a good thing. God answers prayers in mysterious ways. I will ask that you please pray for answers. If it is indeed PI, then I will just ask for COMPLETE HEALING. Okay, I'll beg.

More Results

The urine analysis came back showing no copper toxicity in Paul's body. The rest of the blood work came back okay as well. The MRI is scheduled for March 31st in the evening. We are not expecting to find anything because the cortisol levels look fine. We are thinking his exhaustion may be due to a Vitamin C deficiency commonly found in patients with Fructose Intolerance. There are not meds out there to relieve his symptoms because all of them contain ingredients he can't tolerate. I am going to try the glucose tablets this week before he eats any questionable foods. He is still struggling with a lot of pain, however, he has made significant improvement since the diagnosis. He is not bedridden and curled up in a ball like he used to be. He does have those moments but they are less common. We are also looking into getting him some counseling to deal with this disease. The Dr. mentioned when a person is sick for this long, sometimes people get anxiety and fear about what is going to happen to them. The psychological factor can play an even greater role to either make it better or worse. We have noticed a significant amount of anxiety over the last few weeks. He has been fearful of things that were never a previous concern. He is also experiencing shortness of breath sometimes and occasional headaches. Our prayer request specifically would be finding a counselor to minister to him and help him with his fears and emotions to deal with all of the aspects of this major change, asking for pain relief, and finding joy in the midst of his suffering. We are so thankful for all of your support and love.