Both Bug and Jay-Are have JPS (Juvenile Polyp Syndrome) as a part of their HHT (Hereditary Hemorrhagic Telangiectasia) / in addition to their HHT. This is caused by the specific genetic mutation that they have; which is SMAD4. We know this as we have done the genetic tests to confirm as much. As a result of this we know without a doubt that Bug will have polyps in her GI tract (Jay-Are has this as well and has had several surgeries as a result in the past as well as he gets yearly screening). It is just a matter of fact, and one that we have accepted. What we did not know is how soon those will appear and the extent of what is to come. This means that part of our reality is that there is a very real possibility that one day Bug will have to have her colon removed just like Jay-Are did, but hopefully not, and if so, hopefully for not many years to come.
In order to make sure that things are in the right hands we have a GI Specialist that we see once a year (Dr. T). Dr. T is awesome and does a really good job of helping us to understand what we should and should not do in order to be as preventative as we can in our situation. For us that includes Bug taking MiraLAX on a normal basis to ensure that her stool remains soft, and watching for blood in her stool (yes we look at every single one, oh the joys of parenthood).
Recently the second came to light. There was blood in her stool two different times, in a short amount of time (within two days of each other the week before Thanksgiving). For most parents this would probably be extremely frightening. For us, unfortunately it was expected, and as I mentioned, something we are always watching for. As a result, we called Dr. T and let her know what was going on and she got us in for an appointment this week on Tuesday. At that appointment she told us what we already knew, but did not really want to hear. If there is blood, then there is probably a polyp bothering her, which means that we have to be invasive much sooner than we wanted to. Up until now the plan had been to observe and monitor and be as non-invasive as possible. With this new development, plans have changed.
What this means for us now is that Dr. T will need to start looking on the inside to see what is going on. So long story short, we will be doing an upper endoscopy and colonoscopy the week of December 19 at Children's Hospital. From there we hopefully will have a better idea of what is happening on the inside and be able to formulate a plan from there! I will keep you posted once that has happened, but wanted to make sure to keep things up to date for those that were interested!
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