Urology and the UTIs
Back in October, Elizabeth spiked a fever. After a couple of weeks of visits to the pediatrician and being told it was "just another virus," I disagreed and demanded that we do some investigating and not assume that it was "just another virus." The next day I received a phone call from the doctor that she had a UTI (Urinary Tract Infection). In January, Elizabeth exhibited a similar array of symptoms, and after testing it was revealed that she again had another UTI. At this point, we were referred to Urology. Her team of doctor's agreed that with all of her other complex medical symptoms that these two frequent UTIs needed further investigation.
Our appointment with Urology was on March 11th. After reviewing her medical history, various tests, urine cultures, etc., the Urologist decided that these two UTIs were close together and did warrant some additional investigation, especially with Elizabeth's complex medical history. Since we already know that she has a compromised immune system due to her IgA Deficiency and "unspecified immune deficiencies," and we know that she also has a lot of trouble fighting off infections, the Urologist decided to put her on a low dose of maintenance antibiotics. This is routine for individuals with frequent UTIs, and it is also something that we have discussed with her Immunologist, Dr. Larkin. It would be beneficial to Elizabeth with not only helping her already weak immune system to fight off UTIs, but it will also help to fight off the various other bacterial infections that she also seems to pick up easily and struggles to fight off. There are also some risks associated with a daily dose of antibiotic, like an increased risk for diarrhea and developing a tolerance for antibiotics, etc., but the benefits outweigh the risks for her. So, Elizabeth is now on a daily, low dose of the antibiotic Bactrim.
The Urologist also explained that due to Elizabeth's hypotonia (low muscle tone) that she was in a group at higher risk for UTIs. Her hypotonia could be preventing her from emptying her bladder effectively, and it could also be causing her to have a condition known as bladder/ urinary tract reflux. This reflux occurs when urine goes back up the ureters from the bladder to the kidneys, instead of going from the bladder out of the body. Her hypotonia could be making it harder for her body to effectively control how her urinary tract system functions, which could be causing the frequent UTIs. Her urine often smells strong, and she has been prone to unexplained fevers, so it is highly probable that she has had more than two UTIs, but they were just chalked up to "another virus." Since frequent UTIs, bladder/ urinary tract reflux, etc. can cause damage to her urinary tract, we need to find out what is causing the UTIs. If it is simply her immune system, then the antibiotics will do the trick. However, we need to know if it is bladder/ urinary tract reflux, and if that is the culprit, then we need to know how severe the reflux is so that we know how best to treat it. Children with bladder/ urinary tract reflux most often grow out of it, but some do not. The antibiotics will help any infection that is caused by the reflux, but sometimes surgery and other procedures are done depending on the severity of the reflux.
You've probably guessed it by now, and yes, this means another test. The test to diagnose and investigate bladder/ urinary tract reflux is called a Voiding Cystourethrogram or a VCUG. Instead of going into details, let's just say that it doesn't sound like it will be pleasant. I'm told that it is not painful, and she will be awake, but it will be uncomfortable to say the least. The Urologist wanted to have the test done before her G-Tube surgery on March 30th, just in case they need to do something in surgery that day to help control her bladder reflux. So, we are scheduled to have the VCUG on March 24th in the morning, and we are also having a follow up later that afternoon in Urology to go over the results and to create a plan. I am glad that they are working so well with us to try to coordinate this testing before her G-Tube surgery, just in case it means they need to do some other procedure while she is under anesthesia that day. I'm a little frustrated that this hypotonia, which she has had since birth, has reared it's ugly head, yet again, and may be the culprit behind yet another medical issue for our sweet girl. However, we need to know if this is the reason, and we need to do what we can for her to stop it, and so be it. She is so tough. It won't even phase her. Elizabeth really is amazing. I'm sure people get tired of me repeating this, but she TRULY is a miracle.
On a more awesome note, I received word last week that the next level of genetic testing was APPROVED by our health insurance. I seriously almost fell off of my chair when Katie Long from Genetics called to tell me that. Katie was also surprised that it had been approved so quickly. The Microarray testing took months to approve, which is the same testing that we were denied in November, had to appeal with the Insurance, and then they approved it and took 22 days to inform me that they approved it, which then resulted in me writing a letter detailing my disgust in their notification and appeal process, and how they wasted precious time in my daughter's life by being incompetent! Anyway, the next step for genetic testing after the Microarray was the Exome Sequencing. We all assumed it would be a similar story to get approved, but Katie Long called me just a week after the paperwork was sent to the insurance company to tell me that it was approved and we could proceed with the testing. A WEEK!! That's it!!! Katie jokingly said that I must have made quite an impression on the insurance company. As in, "Oh, Geez, just approve this so this crazy Mamma will stop calling us and writing letters reminding us about how inept our processes are, blah, blah, blah." Well, persistence pays off, and I'm proud to say that I'd do it all over again, and will continue to do that, to ensure that Elizabeth gets EXACTLY what she needs to help her. So, Jason, Elizabeth and I will all be having DNA samples collected and sent to the lab. The test is done at Baylor College of Medicine's Lab in Texas. It will take 14-15 weeks to get results. We are having our testing done on the 18th (today), so we should be getting results sometime this summer.
We have been on a search for answers, and I'm grateful that the insurance company sees the necessity of the exome sequencing and the answers that it will provide for us and most importantly for Elizabeth. It is expensive testing, and I've talked to many families that have been denied this testing for a variety of reasons for their precious children. I have talked to many other families who have had exome sequencing, and it has provided them with answers that have been both a blessing and a bit of a curse. It seems unreasonable to think that when you're searching for answers that any answer could be both of those things, a blessing and a curse, but it is the reality of the situation. I have said over and over again that sometimes the answers you seek are not the answers you want to hear. An answer is an answer. It is an explanation. It gives us an idea of what the future will likely hold, what the progression of "this" is, and a name for "what" this is and "what" it means ultimately for Elizabeth. As a parent in this situation, the prospect of these answers is both joyful and terrifying. Joyful in the fact that you might finally be able to know what is behind all of these complex medical and developmental issues that your child deals with on a daily basis. Terrifying in the fact that once you get to this stage of genetic testing, the answers are often rare, complex and sometimes unknown things that have no cure, that don't provide promising prognoses, and that quite possibly can change the course of everything you had planned and hoped for your child. We want answers, so we seek them. She continues to amaze doctors, and I have no doubt that whatever the diagnosis is in the end that she will continue to amaze and inspire. We refuse to let her be pegged into a diagnostic hole and let it determine who she is and what she can and cannot do. There is always hope. Hope is what turns the terrifying into joyful.
Today, March 18th, Mom and I are headed to Children's to get some blood work drawn on Elizabeth and I for Genetic Testing and a research study that we are participating in. Then, we have follow up appointments in Pulmonology and the Cerebral Palsy/ Rehabilitative Medicine Clinic. Who knows what the day will bring? I just know that at the end of the day, that it will still be hopeful. When I see Elizabeth doing things like crawling and trying to stand, which we were not certain she would ever do, when I hear her infectious laugh and bright smile, when I twirl her curls around my fingers as she is looking up at me with those big, brown eyes behind pink glasses, I know that there is hope and lots and lots of love.
Speaking of love, check out these pictures. Elizabeth seriously adores her big brother. She is constantly watching him, following him, and wants to be near to him. Celtan just adores Elizabeth. He is so good with her. He is patient with her, and he loves to help her in therapy. Here are some pictures of them on Sunday... just look at how much they love each other. :-) Enjoy your day! I hope it is full of love and hope and laughter.
On a more awesome note, I received word last week that the next level of genetic testing was APPROVED by our health insurance. I seriously almost fell off of my chair when Katie Long from Genetics called to tell me that. Katie was also surprised that it had been approved so quickly. The Microarray testing took months to approve, which is the same testing that we were denied in November, had to appeal with the Insurance, and then they approved it and took 22 days to inform me that they approved it, which then resulted in me writing a letter detailing my disgust in their notification and appeal process, and how they wasted precious time in my daughter's life by being incompetent! Anyway, the next step for genetic testing after the Microarray was the Exome Sequencing. We all assumed it would be a similar story to get approved, but Katie Long called me just a week after the paperwork was sent to the insurance company to tell me that it was approved and we could proceed with the testing. A WEEK!! That's it!!! Katie jokingly said that I must have made quite an impression on the insurance company. As in, "Oh, Geez, just approve this so this crazy Mamma will stop calling us and writing letters reminding us about how inept our processes are, blah, blah, blah." Well, persistence pays off, and I'm proud to say that I'd do it all over again, and will continue to do that, to ensure that Elizabeth gets EXACTLY what she needs to help her. So, Jason, Elizabeth and I will all be having DNA samples collected and sent to the lab. The test is done at Baylor College of Medicine's Lab in Texas. It will take 14-15 weeks to get results. We are having our testing done on the 18th (today), so we should be getting results sometime this summer.
We have been on a search for answers, and I'm grateful that the insurance company sees the necessity of the exome sequencing and the answers that it will provide for us and most importantly for Elizabeth. It is expensive testing, and I've talked to many families that have been denied this testing for a variety of reasons for their precious children. I have talked to many other families who have had exome sequencing, and it has provided them with answers that have been both a blessing and a bit of a curse. It seems unreasonable to think that when you're searching for answers that any answer could be both of those things, a blessing and a curse, but it is the reality of the situation. I have said over and over again that sometimes the answers you seek are not the answers you want to hear. An answer is an answer. It is an explanation. It gives us an idea of what the future will likely hold, what the progression of "this" is, and a name for "what" this is and "what" it means ultimately for Elizabeth. As a parent in this situation, the prospect of these answers is both joyful and terrifying. Joyful in the fact that you might finally be able to know what is behind all of these complex medical and developmental issues that your child deals with on a daily basis. Terrifying in the fact that once you get to this stage of genetic testing, the answers are often rare, complex and sometimes unknown things that have no cure, that don't provide promising prognoses, and that quite possibly can change the course of everything you had planned and hoped for your child. We want answers, so we seek them. She continues to amaze doctors, and I have no doubt that whatever the diagnosis is in the end that she will continue to amaze and inspire. We refuse to let her be pegged into a diagnostic hole and let it determine who she is and what she can and cannot do. There is always hope. Hope is what turns the terrifying into joyful.
Today, March 18th, Mom and I are headed to Children's to get some blood work drawn on Elizabeth and I for Genetic Testing and a research study that we are participating in. Then, we have follow up appointments in Pulmonology and the Cerebral Palsy/ Rehabilitative Medicine Clinic. Who knows what the day will bring? I just know that at the end of the day, that it will still be hopeful. When I see Elizabeth doing things like crawling and trying to stand, which we were not certain she would ever do, when I hear her infectious laugh and bright smile, when I twirl her curls around my fingers as she is looking up at me with those big, brown eyes behind pink glasses, I know that there is hope and lots and lots of love.
Speaking of love, check out these pictures. Elizabeth seriously adores her big brother. She is constantly watching him, following him, and wants to be near to him. Celtan just adores Elizabeth. He is so good with her. He is patient with her, and he loves to help her in therapy. Here are some pictures of them on Sunday... just look at how much they love each other. :-) Enjoy your day! I hope it is full of love and hope and laughter.
Thank you for posting about this. I'm currently in the hospital with my 16m old daughter with undiagnosed gross motor delays attributed to low muscle tone, and the doctor just floored me with the suggestion that her uti could be related to this,especially since it has happened for the first time within 2wks of her finally finally standing up.
ReplyDeleteThank you for putting the term Reflux in there, because she's already medicated for reflux which makes sense.
I hope your journey since this blog post has been positive for you and your daughter xo