New Testing Results!

Hi everyone!! Hope you're all doing great!  I'm going to jump right in where I left off last week! Hayden's urine culture was sent Friday to make sure the UTI was gone.  Turns out it was only partially treated after 10 days+ of antibiotics, so she had to be put on another antibiotic 4 times a day for 10 more days.  We also met with the Urologist and he wants to go ahead with the surgery to try and prevent UTI's in the future.  He is going to try and perform a laparoscopic procedure first to inject a sugary substance in each ureter on her right side (she has 2 ureters to go with the 2 kidneys on the right).  The results tend to be pretty good, but there is a slightly higher chance that this procedure will not work for Hayden.  If this does not work, they will do an open surgery where they will cut and move the ureters in some way (don't ask me for a great explanation of this!!).  Both procedures require her to go under general anesthesia.  We will need to meet with the Anesthesiologist prior to scheduling surgery, as Hayden presents as high risk because of her likely Mito diagnosis, as well as her newly discovered genetic mutation.  I will keep you posted on the surgery date.  This should be an outpatient procedure, but because she is high risk, if they are uncomfortable with any of her post-op information, they will keep her just to be sure.  Hopefully there are no problems!

Today I went and met with Hayden's Pediatrician and Geneticist, Dr. Krishnamurthy.  For the most part, Hayden's results came back great!  No allergies, no Celiac disease, and so forth.  But (you know there always has to be a BUT), she had some major genetic findings, as well as a couple other abnormal results.  First, Hayden has 2 MTHFR mutations.  The Dr let me know that one of the mutations was severe and not what she ever wants to see, and the other was mild.   I have a TON to research, but I can let you know what the Dr explained to me, as best I can.  These mutations mean Hayden will have low Folate levels.  She will be on a supplement for that, as well as a supplement for Vitamin D (which has nothing to do with the mutation, but she has slightly low levels of Vitamin D also).  I'm not sure the side effects of having low folate levels, so I can't really go into any detail on that right now.  The mutations make her high risk for developing heart disease, and several other diseases including diabetes.  There is a link to leukemia as well, and we will be taking that into account to make sure it has nothing to do with a family member that has been diagnosed with the disease.  The Dr told me that I was to immediately change Hayden's diet, and everyone else in the family so that heart healthy eating is our habit.  I know how hard this is going to be, but she was sure to let me know that if Hayden's diet was not changed, I could be sealing her fate with that decision.  I am absolutely not willing to allow my bad choices shorten her life, so I WILL make the changes.  I'm not sure if Hayden will need to be followed by a Cardiologist every year, or if the pediatrician can manage all the testing to ensure heart disease is not developing.  Brad and myself will need to be tested for the mutations as soon as possible, as well as Taylor.  From there, either my family or Brad's family will be tested for the mutations as well, depending on whether Brad or myself is affected.  Wouldn't it be something special is Hayden's early findings saved someone else's life, or helped to prevent health conditions in other family members?!  There's a lot I need to learn about this, as I was just given the information this morning!  I will pass on to you the information I was told to look up, in case you are interested.  Note: this information may be really exciting to my sister-in-law Erica, and really confusing to the rest of us, but I thought I'd put it in here for all to read!  Hayden is compound heterozygous for the mutations C677T and A1298C.  There you have it...google is your friend :-)

Hayden is being referred to an Immunologist because one of her lab tests showed low Immunoglobulin A.  The Dr. told me they need to know why this is low, as it means she has a hard time fighting off infections (which matches perfectly with the 3 week long UTI that we cannot get rid of).  Hopefully there is a simple explanation for this!!

Finally, Hayden's bone length scan showed a couple of discrepancies.  The right femur is slightly shorter than the left, and the top of the left talus is estimated to be 5cm higher than the right side.  We have been referred to an Ortho for follow-up, and hopefully an understanding of why her bones are not symmetrical.  I am so hopeful that this Dr. will be able to understand the results and the figure out why she has so much trouble walking!!  The Dr. also wrote the prescription for the SureSteps, which are little braces that will go around her ankles to help her with the low muscle tone and her balance.  I'm very excited to make an appointment for the braces...maybe we'll see her running everywhere in a few weeks!!

I suppose that is all the new information I have for the moment!  I'm am hoping our cheek swab kit will be here soon so that we can be on our way to a definitive Mito diagnosis also!  Oh, and the insurance company has APPROVED the BIG Mito DNA testing!! YAY!!  It may take upwards of 6 months to hear anything, but I am more than excited that we will be on our way to knowing those results too!

As always, thank you all so much for your prayers and support!  Believe me when I say that the changes we are needing to make for Hayden's health will be so difficult for me, and I will need the prayers and support as I work to make these changes!  Love you all so much!!

~Emily