Skeletal X-Rays Results are Positive

It is two in the afternoon and we have been home from Sick Kid's for the past hour so I figured it was time to inform everyone how Parker's skeletal evaluation went. After Parker got his injection of the ADAGEN we sat down with the staff immunologist and the report from the radiologist to discuss Parker's results.

As most of you who populate this site know, ADA deficiency is considered the most severe form of Severe Combined Immunodeficiency for several reasons. First, it causes the greatest decrease in lymphocytes (T, B and NK), it does not respond well to conventional treatment for SCID (a bone marrow transplant), and finally it is not only an immunological disease but also a metabolic one. The toxins that accumulate in the body as a result of the missing adenosine deaminase (ADA) causes damage to the other organs. The most noted one is the skeletal system.

Since Parker is considered a large infant for his age above the 80th percentile for his weight, they wanted to make sure that he could bear the weight of his body on his legs. To find this out, they did a series of x-rays on Parker in order to perform a skeletal survey. A complete body x-ray that would be analyzed by a radiologist to check the severity of Parker's skeletal abnormalities.

The results of the skeletal survey showed that Parker has mild shortening and thickening of most of his limbs. In addition, he does have some mild abnormalities in his vertebrae and ribs. These are all considered somewhat normal for an ADA deficient child.

What is promising is that the x-rays taken on his chest and ribs back in February and March show worse skeletal abnormalities compared to what the x-rays now show. This would indicate that the enzyme replacement therapy that Parker is currently on to take part in the gene therapy trial is reversing some of the damage to his skeletal system.

In addition, the x-rays shows some thickening of the bronchial tubes in his lungs (peribronchial thickening). This is most likely caused by the infections Parker had in his lungs before he was diagnosed to have ADA deficient SCID.

Overall, we were very pleased with the results. In addition, as always, everyone at Sick Kid's is very pleased with Parker's progress to date.