Surgery, Buccal Swab Results, and MANY MANY Doctor Visits

I guess it's safe to say at this point that our lives are anything but normal.  I inaccurately predicted a slow February, and it's turned out to be SO busy.  We've been in the ER for the stomach virus with Hayden AND Taylor! I also got sick with the stomach virus :-( Hayden has had a total of 7 doctor's appointments this month, and we still have 2 more to go, plus a trip to the hospital for more testing.  Hayden also had her first surgery last week.  SHEESH!  I think I've learned my lesson on predicting "slow" months!

Big sissy Taylor in the ER with the stomach virus :-(

I will start by filling you in on the most important test results we have received to date.  I received a phone call Friday from Dr. Goldenthal, a doctor in PA that is performing research on the reliability and accuracy of the buccal swab.  I swabbed Hayden's cheek for 45 seconds for each of 3 swabs, packed them on ice, and shipped them to PA.  This test is comparable to the muscle biopsy that is typically performed in order to diagnose Mito.  I believe it has an 84% correlation to the muscle biopsy, which basically means that the majority of the time the same results are found in the buccal swab as the muscle biopsy.  The buccal swab can only test for deficiencies in 2 of the 5 mitochondrial "stages" (referred to as complex I though V) while the muscle biopsy can reveal deficiencies in all 5.  The swab test can show Complex I deficiency and Complex IV deficiency.  According to Dr. Goldenthal, Hayden had a very robust result for Complex I.  It was actually above the normal range.  We are suspicious that this result is not accurate, as Hayden was on the Mito cocktail when we submitted the swab (we didn't know that she couldn't be on the cocktail at the time of the swab...at least is may show that the medicines are helping in the first complex of Mito)!  We will retest in 6 months to see if her result change when off the cocktail.  She will also be older, and this may also lead to a different result.  Now for the bad news.  She did show a significant Complex IV deficiency.  Because this testing method is still in the research stage, this result cannot be used to give us a 100% official diagnosis, however, because of the tests strong correlation to the muscle biopsy results, the test is not far off from being used as an official means of diagnosis.

So what does this mean for Hayden?  It means there is very little chance that she does NOT have Mito now.  Our pediatrician and geneticist told me she has no doubt that Hayden has Mito, and that we now need to move our focus from getting a Mito diagnosis to finding her "type" of Mito.  Complex IV deficiency has been viewed as the most severe complex deficiency to have, however, every person with Mito is effected very differently, so just knowing that she has the Complex IV deficiency does not give us a good idea of her prognosis.  It is also important to know that the Complex IV deficiency is kind of our "umbrella" diagnosis.  There are MANY disorders and diseases under this umbrella.  We need to do further testing to figure out which one she has.  It is also possible that we will do more testing and be told that Hayden has an "unidentified" Mito genetic mutation(s).  The research is so new for all of this that many mutations have no specific association at this time.  We are hoping to be able to find her specific diagnosis so that we may better understand her prognosis and disease.  

Now that I have confused the heck out of everyone, I will move to some of the other visits we have had with doctors since I last posted.  Hayden did have her first surgery last week.  This procedure was to hopefully correct her vesicoureteral reflux which has been the cause of the frequent UTI's.  We were very anxious to get through the procedure, as she is considered high risk for anesthesia because of her MTHFR mutations.  She did very well going under and experienced NO complications!  She had a very hard time coming out of the anesthesia, which is to be expected at her age.  She was screaming and had no idea who was holding her and where she was for at least 2-3 hours.  We spent almost 8 hours in the day surgery unit for a 1 hour procedure! It was exhausting!  She did experience bladder spasms and some pain for about 2 days after the procedure, and also was almost admitted because she was so dehydrated! In the midst of her coming off the anesthesia, she partially ripped out her IV before she had all the fluids.  They were pushing her to drink, but she had so much tummy trouble afterwards that she would NOT drink!  We eventually got her to drink an ounce of fluid and then asked to GO HOME!! We will follow-up with her Urologist in 4-6 weeks.  She will undergo a renal ultrasound and VCUG to see if the surgery was successful, so please be praying for that.  If the surgery was not successful, she will have to undergo another surgery, except this time instead of injecting a substance, they would actually be cutting and tying back pieces of the Ureters...so a major surgery in comparison.

Little bug before her surgery!

We saw the Ortho doctor this week also.  They reviewed her bone length scan, played with her legs and checked the movement she is capable of, and had lots of fun watching her walk through the office! They told me Hayden has flat feet.  This is not a concern at the moment, but may be addressed in the future if she seems to be suffering from it.  She also does have a discrepancy in length between the left and right leg.  They do not think it is huge, but she may require a lift in her shoe.  Again, they will wait until she is a little older before they consider doing that, mainly because they don't want me to pay $25 a week to get a new lift when she loses it!  They also mentioned their desire to have a muscle biopsy done.  Their main reasoning is that it would give them more information about her muscle disease and they may have better ideas as to how to help her.  I am currently researching and praying over the right decision. 

Hayden's geneticist and pediatrician saw her on Saturday to discuss some new symptoms that have developed, and also expressed a great deal of concern over Hayden's current state.  She is also on board for a muscle biopsy as well as a skin biopsy.  Her reasoning is that we need to know Hayden's Mito type sooner than later in order to help understand the symptoms she is presenting.  The doctor recommended we go to the Cleveland Clinic to see a team of Mito specialists.  She is worried about Hayden and doesn't think it is a good idea to wait another 6 months to get the Mito genetic testing back.  I am researching a praying for the right decision in this matter also.  It gets really tough to make some of these decisions, and I am currently feeling very overwhelmed.   I do not want to stand in the way of receiving fast information as long as it will really help Hayden's health.  I do not want to subject her to unnecessary procedures either, so I'm taking my time deciding.  I believe we will do a follow-up with Dr. Kendall, our current Mito doctor first, and if she doesn't seem on board with pursuing answers quickly, we will consider going to the Cleveland Clinic, or even the Children's Hospital in Cincinnati since my dad and step mom live there and could help me with the visits.  I will definitely keep you all updated on my decision. 

I mentioned above about Hayden's newest symptoms.  She has recently had excessive thirst.  She needs 2-3 cups of pedialyte/water at a time.  She BEGS and whines for "dink" all day long.  She is especially bad about this throughout the night.  She has had a huge increase in urine volume as well.  Both of these symptoms match some of the symptoms for diabetes and diabetes insipidus.  The pediatrician has ordered bloodwork for this, so we shall see.  She is also running bloodwork to check for growth disorders and renal tubular acidosis.  Hayden has also been experiencing very strange cramping episodes.  I have posted the video below for you to see.  She has these very frequently, many times a day.  Some days are worse than others.  At this time we are not sure if she is cramping because she is so dehydrated, or because something else is happening.  Again, hopefully bloodwork will point to something specific so we understand what is happening.

Finally, Hayden has just started experiencing some tremors and shaking.  I've also noticed her eye drooping sometimes.  These are brand new happenings, so I have no idea what's happening there!!

We go for the bloodwork tomorrow, and then to her GI doctor Thursday.  We are hoping to address her continual growth issues.  I'm not sure what our options are at this point, so I will be sure to post after our appointment.  I am hopeful he can work with us on her eating issues as well as her constant need for liquid.  We also have her second EEG on Thursday.  I am in no way hopeful that she is in fact having seizures, but if she is, it would be great if they could catch one during the EEG so that we can proceed with treatment.  I will post the results from this test as soon as I get them!

Information overload??! I have to get better about posting as things happen so that I don't have to post a book every time I write!  Hopefully I haven't left out any major happenings, but I'm sure I did!  I am so grateful for every one's support and prayers.  We are so blessed. 

~Emily

P.S. - We are working to set-up some fundraisers for the UMDF Energy for Life Walk...our team is Hawk's Wings.  Please visit our team's link below to donate to the UMDF, or consider walking with us or at the walk in your city.  We MUST bring awareness to this horrible disease so that we may find a treatment/cure during Hayden's lifetime!!

Click to Donate to Hawk's Wings!

My sweet little Hayden!