Sorry it's been awhile since we have provided an update! For the most part things have been good, but we have most certainly been busy with various doctors and appointments.
One of the most frustrating things about HHT is that it affects so many different parts of your body. As a result, this means that we have lots of different specialists that we have to see on a normal basis. This seems like even more considering that we have both specialists for Jay-Are and pediatric specialists for Bug. We have not only having a Primary Care doctor, but also a cardiologist, pulmonologist, genetic specialist, and gastrointestinal (GI) specialist, all of which we have to meet with, not only for just check in appointments, but also for procedures, follow ups to procedures etc.
In April we met with both Jay-Are and Bug's GI doctors - separately.
Bug's appointment was just to establish care with the specialist. I have to say Dr. T is awesome. From our visit we basically established that yes Bug most likely has polyps in her GI Tract given the family history and positive genetic test for JPS, however the best we can do right at this minute in time is monitor. The less invasive we can be the better, as polyp's like scar tissue or scabs - grow with irritation. For now her numbers look good, she doesn't have any abdominal shunting that was visible from her scans last June, and she is on a good growth curve. We will visit once a year for now, keep monitoring her various levels (iron, proteins etc) and talk about more invasive testing later on.
Jay-Are's specialist visit was in order to talk about next steps in his testing. Since we already knew about his well involved case of JPS, and he has had his colon removed years ago, it really is monitoring at this point. For him this meant that he had an upper endoscopy on May 23rd and then a pill camera test on June 1 - where he had to swallow the camera pill and it is supposed show us what is going on in the rest of his system that the endoscopy won't show. Unfortunately this did not work the first time around, so we had to go back in on July 1 to have it placed into his small intestine via an upper endoscopy (they put him out for this, and it was considered an outpatient thing). The results of this were positive, meaning there was no additional polyps in the in-between areas that we need to be worried about at this time.
We did however end up in the Emergency Room on July 3 for Jay-Are for what we believe was a partial bowel obstruction. Luckily after spending 8 hours there we were able to go home, take it easy and it seems to have resolved itself.
In May (I think) we also went to see a pulmonologist for Bug, where she has been diagnosed with exercise induced asthma. Nothing really to worry about, basically just an inhaler as needed and some preventative medication to help (which it seems to have done).
In July we also saw the cardiologist for both Jay-Are and Bug. Both are checking in good here, nothing to worry about at this point. Jay-Are had both a CT and MRI - everything is as it should be and he will have a heart echo next year. Bug didn't have to do anything other than the equivilent of an exercise test! They had her walk really fast in a circle around the office to check her oxygen levels. All which were within the range, although a little low once she got going, still nothing to worry about. She will get a CT and and MRI again in another couple years once she is a little older.
Not only is all of this time consuming, and nerve racking, but also costly, as all of these appointments, procedures, hospital stays cost money.
One of the most frustrating things about HHT is that it affects so many different parts of your body. As a result, this means that we have lots of different specialists that we have to see on a normal basis. This seems like even more considering that we have both specialists for Jay-Are and pediatric specialists for Bug. We have not only having a Primary Care doctor, but also a cardiologist, pulmonologist, genetic specialist, and gastrointestinal (GI) specialist, all of which we have to meet with, not only for just check in appointments, but also for procedures, follow ups to procedures etc.
In April we met with both Jay-Are and Bug's GI doctors - separately.
Bug's appointment was just to establish care with the specialist. I have to say Dr. T is awesome. From our visit we basically established that yes Bug most likely has polyps in her GI Tract given the family history and positive genetic test for JPS, however the best we can do right at this minute in time is monitor. The less invasive we can be the better, as polyp's like scar tissue or scabs - grow with irritation. For now her numbers look good, she doesn't have any abdominal shunting that was visible from her scans last June, and she is on a good growth curve. We will visit once a year for now, keep monitoring her various levels (iron, proteins etc) and talk about more invasive testing later on.
Jay-Are's specialist visit was in order to talk about next steps in his testing. Since we already knew about his well involved case of JPS, and he has had his colon removed years ago, it really is monitoring at this point. For him this meant that he had an upper endoscopy on May 23rd and then a pill camera test on June 1 - where he had to swallow the camera pill and it is supposed show us what is going on in the rest of his system that the endoscopy won't show. Unfortunately this did not work the first time around, so we had to go back in on July 1 to have it placed into his small intestine via an upper endoscopy (they put him out for this, and it was considered an outpatient thing). The results of this were positive, meaning there was no additional polyps in the in-between areas that we need to be worried about at this time.
We did however end up in the Emergency Room on July 3 for Jay-Are for what we believe was a partial bowel obstruction. Luckily after spending 8 hours there we were able to go home, take it easy and it seems to have resolved itself.
In May (I think) we also went to see a pulmonologist for Bug, where she has been diagnosed with exercise induced asthma. Nothing really to worry about, basically just an inhaler as needed and some preventative medication to help (which it seems to have done).
In July we also saw the cardiologist for both Jay-Are and Bug. Both are checking in good here, nothing to worry about at this point. Jay-Are had both a CT and MRI - everything is as it should be and he will have a heart echo next year. Bug didn't have to do anything other than the equivilent of an exercise test! They had her walk really fast in a circle around the office to check her oxygen levels. All which were within the range, although a little low once she got going, still nothing to worry about. She will get a CT and and MRI again in another couple years once she is a little older.
Not only is all of this time consuming, and nerve racking, but also costly, as all of these appointments, procedures, hospital stays cost money.
We have pretty good insurance all things considered, but there
are moments when it seems like all I will have is years upon years of fighting insurance in our
future, which is daunting to say the least. Luckily since the first of the year when we switched carriers this has been MUCH better, because before I consistently was having to request appeals
in order to have certain things covered that insurance thought they shouldn’t
need to cover.
For the bills that we do have, we have been blessed to be
helped significantly by our family members, and there are not enough thanks
that I can give them for that assistance.
The biggest thing that we can say about having HHT/JPS is
that you really do have to be your own advocate. This is a rare enough thing
that unless you go to an HHT center (which we have not done as of yet), then a
lot of times doctors themselves have to read up on the disorder and how it
presents. More often than not the doctor’s immediate response is something
along the lines of “wow I didn’t know anything about this” or “I have a
colleague who knows a little bit about this”. I (Danielle) have taken to being
our family advocate, and I have tried to continue to learn as much as I can in
order to help educate others as well. I will tell anyone that wants to hear (or not) about HHT!
Most importantly you want to have a doctor that is willing
to learn about the disorder and is willing to help manage your overall care.
They don’t need to be an expert, but they do need to be willing to learn. We
have been lucky in the sense that our doctors have all been very willing to
learn about this and help direct us to appropriate individuals locally that may
have some additional knowledge and experience dealing with HHT. It helps to
live in a larger metro (we live in Omaha, NE), as there is more healthcare
providers available for reference and as resources. Someday we would like to
try to go to and HHT center, however the closest one to us is the Mayo Clinic in
Rochester, MN which is just over 5 hours away from us. Luckily it’s not an
unreasonable distance to travel; we could feasibly drive not fly, which would
help with the cost. Maybe one day in the next few years we will be able to do
that!
As always we thank you all for your continued support and prayers as we take this journey. It will be a lifelong one for us, but one that we are prepared for one step at a time. We will continue to do our best to keep you updated as things progress, but no news is actually good news in our case, as if there is something going on it's usually extreme!
As always we thank you all for your continued support and prayers as we take this journey. It will be a lifelong one for us, but one that we are prepared for one step at a time. We will continue to do our best to keep you updated as things progress, but no news is actually good news in our case, as if there is something going on it's usually extreme!
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