Cardiology Appointment

So, like I've mentioned before in a couple of my previous posts, our appointment with the special cardiologist was today. We have known for some time that Lydon had some dysautonomia. He has always had problems maintaining his body temperature. It fluctuates as does his blood pressure, heart rate , appetite, energy level etc. But lately, we've noticed that with temperature changes or excercise, Lydon becomes short of breath and his lips turn blue. This obviously is not normal for a two year old. It was a very involved appointment. We arrived about 8:45 and left at 2:00!!! We were physically (and emotionally) exhausted! While we were there, Lydon had an EKG and an Echo done. He was such a trooper!! Poor guy was so worn out and happy to get a bottle he layed perfectly still for the echo without any sedative. So although it was exhuasting, we may have gotten some key clues for some of Lydon's issues. His EKG showed some variables that are common to mitochondrial disease. The ECHO showed a PFO. A PFO or Patent Foramen Ovale is a hole between the left and right atria. Everyone has this while in the womb but it is suppose to close shortly after birth. About 25% of the time, this hole doesnt close but it generally doesnt cause any problems or symptoms at all. However, in mito patients the stress that this puts on the body is much more profound and obvious. There is also a risk of oxygenated blood mixing with deoxygenated blood. This process called left to right shunting also increases the risk of a stroke. So because of all of Lydon's symptoms and the new findings on these tests run today, we brought Lydon home with a Holter monitor. This will monitor the activity of his heart for the next 48 hours. After this is complete, we will follow up with the doc and come up with a treatment plan. At that point, we will decide whether or not we will close the PFO. Needless to say, this appointment, like many of them lately, was a little overwhelming. Sometimes ignorance is bliss, sometimes knowledge is power.

For those of you who know us well and are intereted, Jonathan's MRI is scheduled for Friday morning. We are hoping this doesnt reveal anything worse than what we already know and that we will have results by Monday so that we can proceed with getting a biopsy done asap. Please pray that all of this will work out this way. Thanks so much!

A brief update

Last week, Lydon's tummy decided to act up. I should've known better because it had already been almost 90 days since our last admission...he's still sort of rocking along in trimesters. Somebody please send him the memo his 3rd birthday is in April!! Any way, he would act good during day, eating drinking and taking his formula like normal but every night after the first couple of hours on his feeding pump, he would wake up vomiting. So after the third night, we ended up in the ER. We were concerned that his tube was out of place again or he could possibly have an obstruction. We got there and they brought us right back and started the work up. They did all of his labs and an x ray of his belly. We were there for almost six hours before they finally gave us the all clear and let us go up for the EEG we had scheduled. Getting all 21 leads glued to his head was worse than sitting in the ER for six hours if you can imagine that! But finally, we got it done. He relaxed but still didnt want to eat anything besides a bite of cracker here and there. He was so exhuasted from all of the fighting that he slept pretty good that night. What a blessing that was!! I was exhausted! He didnt eat more than a few morsels of a cheese cracker all day Saturday and Sunday but he was doing a lot better. Today, he had a great day! He ate a tone of food. I was happpy that he ate and got to play with Mandy (one of his nurses)today. He was happy too!I had only been home for about 45 minutes when as I was heating up food for Holli and Aidan when he gagged and covered my kitchen floor with vomit. So, here we go again...who knows?! Tomorrow we have an appt with a special cardiologst. Wish us luck! ~Jana~

Twas the week before Christmas

and since we seem to have plenty of responsibilities, drama and deadlines to adhere to, we decided to take a break from it all and try to steal a moment to "smell the roses" and see the lights. I was sitting in the waiting room of a doctors office several weeks ago (imagine that!) and saw that the Hill Country area does a lot to decorate and celebrate the Christmas season. I knew that it would take a

lot of planning and effort to take such a road trip but I wanted desperately to be away from all of the hussle and bussle of our everyday life even if it was just two days. So we quickly planned and made the arrangements necessary to make it happen. Jono and I took off on Friday. We got up early that morning and headed out. It wasnt the easiest trip for sure but it was such a nice get-a-way. The kids had a blast! A lot of it was hard on Lydon but he loved every minute of us being together...after all that was the purpose. Here are some pictures. Hope you enjoy.

PRICELESS!!! Worth all the planning, packing, praying and paying from start to finish. ;))

Christmas Eve

Well, wouldnt you know it? It took me till Christmas to find the time to add an update but so much has transpired over the last two months that I want to get this added while I can. Where do I begin?
On the Monday after Thanksgiving, we had an appointment with the pulmonologist/sleep specialist. We discussed the results from the sleep study we did with Lydon earlier in the year. He had several apnea episodes and some desaturations where it took him several minutes to recover. We also talked about how he has been doing lately. Of late, Lydon has had some weird sleep/wake patterns, he gets very short of breath with little exertion and frequently ends up vomiting. This is a direct result of his energy deficit. So, we agreed that the best thing to do was to start him on some low dose oxygen at night and see if that helps at all. We worked and got him adjusted to the pulse ox after the first several days. The oxygen wasn't quiet so easy. He protested the mask and the nasal cannula and made it very clear that neither would be his choice! But, every once and a while, Mommy can be even more stubborn than the lil tough guy. So, I persisted (Sissy helped) and we won! He's been a trooper. He is now sleeping every night with his pulse ox on his toe (AKA His rudolph toe) and his super-hero super power AKA (His nasal cannula). We have struggled with this decision emotionally but we understand that it is something that helps him not have to work as hard physically to keep up with the metabolic demands of his body especially when he is sleeping and needs the extra rest.
Our next appointment was unexpected. The neurologist we met with last month called me in to discuss the results from the Mitochondrial labs we sent off back in JUNE!! Yes, it really took almost six months to get these results and this is considered normal for this test! He was not seeing pt.'s that day but he came in to the office just to sit and discuss everything with me. I told him that we were planning to follow up with him in January but he said that he didn't want for me to wait any longer! What a sweetheart and how blessed we are to have him on our team. He talked with me about a couple of dominant genes that came up. He explained we (Jonathan and I) needed to do some blood tests to be absolutely positive but regardless he didnt feel that either of these two genes were responible for any of Ly's issues. On the other hand, he had six other genes that were reported and all of them were mito/metabolic in nature. He told me that from a neurologist's point of view these were very significant because three of them go hand in hand with each other and all of them go along with Lydons clinical symptoms. He said that he had researched all of the genes that were listed on the report and reviewed their significance in the body's energy making process in addition to reviewing all of Lydon's history. He said that he thought we should draw another lab test to be positive but he felt confident in saying that this was all indicative of the mitochondrial disease MINGIE's. What??? Even though I knew I was there to discuss these results and I knew that he had called me in unexpectedly, I was shocked and taken by suprise when I heard him say this. I didn't know whether to laugh, cry, or throw up. I mean after all, we have been waiting for over two years for an answer or explanation for Lydon's issues. We have had to fight for Lydon's safety several times because we didn't have a definite answer or diagnosis. But still, hearing something so concrete about my boy kind of felt like my stomach got pushed against my backbone. We talked for a very long time. I was overwhelmed with the extent of his knowledge and patience and willingness to talk to me until all of my questions were answered. I left feeling overwhelmed with what all I had heard but also very relieved to have more of an answer at the same time. He wrote an order for some labs that we will have drawn when we go in for his EEG in January. We talked a lot about his dysautomia. Dysautonomia is a malfunction of the autnomic nervous system. The ANS is what regulates all of our unconscious systems of our body like our heart, stomach, endocrine and metabolic systems. We believe Lydon is having these issues because of the diseased mitochondria in his body that causes his brain to not receive the total amount of energy it needs. This is causing Lydon to have some fluctuations with his blood pressure, pulse, oxygen level and of course his GI system as well. There is a cardiologist at UT who is one of the only doctors in the area who specializes in dysautonomia. So, we are going to make the necessary arrangements to get with him to do a couple of specialized tests. I will post an update after we get all of this done.
So, for now that is the latest medical update. Let's hope this is the last one for this year! Lydon seems to be doing very well, all things considered. He is a happy stable growing little boy. Tonight, my heart is full. I am so very thankful that all three of my sweet babies are asleep in their own beds and we are not in the hospital. We spent the majority of last December in-patient. I promise to try to post some pictures in my next post if I can get the time to compose another one! ;) Merry Christmas!!

Happy Thanksgiving!

As is normal for us I realize this post is a couple of days late but I couldnt let the week finish out without this post. We have SO much to be thankful for this year. I've gone back over the last year several times this past week. Lydon has made so much progress in the last twelve months. He is doing amazingly well overall. He still has his chronic issues but so far this year we've been able to stay home. We've only been in-patient this year a few times which is a far cry from the months we spent in-patient last year. We have gone from this..

to this...

To this!
So, yes despite all of the challenges, we've obviously had a great year!







We had a wonderful Thanksgiving,

with each other,

and lots of family! On medical note, we have seen some improvement since starting the new supplements and increasing his Amitriptylline. He's seemed a little off with his stomach and coloring of late but overall very stable. We got a call that the results from the specialized labs we sent off in June have finally come in!! I havent been able to speak to the doctor myself yet but from my conversation with the nurse, it sounds like we may have some answers! Finally....some answers! Cant even begin to describe how just the idea of that thought seems!! We have an appointment on Monday with Pulmonology. We have a dental appointment which we may put off until Jan. Other than that, we are very much looking forward to the next month of more time off together. Here's to some cold snuggle weather and no colds, viruses or infections of any kind!!

November

I promised I would do my best to update from our last appointments so here goees. This is going to be very brief because I am once again working with only one arm/hand. As you may know, I had a compressed medial nerve and had it repaired several weeks ago. Well, as luck would have it, my radial nerve was compressed as well. So last week I had the surgery to correct and decompress it as well as clean out and repair the tendonitis in my elbow. It has been painful but hopefully it fixed my aching problem and will be worth it.
So, back to our appointments. We first saw GI. The worst part of that appointment was the wait. We arrived at 11:20 for an 11:30 appointment and were finally called back and seen at 1:00!! Not much to report really besides the fact that we doubled his nightly dose of Amitriptylline(again) in hopes that this will help with Lys vomiting. After the long wait,we were happy for this appt to be short and sweet. Next was nephrology. This appointment went very well too. The only issue we really spent time discussing was the fact that Lydon has started drinking A LOT! Many days, he will drink until he vomits if we let him and since vomiting is an issue for him, this really is a concern. This can be indicative of a kidney issue (Diabetes Insipidus). That can be associated with some of the findings on Lydons last U/S and is a common condition with some mito kids. So, we will do a water deprivation test the next time we are in patient. Otherwise, his urine and blood pressure looked good. Finally, we met with Neurology. This was the most important appointment of the day. Poor Lydon was so exhausted. He was pretty much done with anybody in a white coat at this point. Regardless, we tredged through and made it. I was anxious about this appointment. We desperately needed a Neuro that was here locally and on staff at Childrens Memorial Hermann but we also needed that person to recognize all of Lydons issues and diagnoses so that we can treat him appropriately. This person was exactly what we needed and hoped we'd find. He talked to us about all of Lydons history. He talked about his chromosome deletion and his mito issues. He agreed that Lydon has obvious mito issues that need to be treated as such. The newest thing we discussed was his dysautonomia. Basically, Lydons neurological system isnt doing what it should to regulate his temperatures,sleep, etc. We will start Melatonin to see if this helps any. We also discussed the fact that several of these things point to an issue within his hypothalamus which could also go hand in hand with the mito issues. We made some medication changes in order to protect his liver, kidneys, and stomach. So, three less meds for Lydon. YAY for that!! We are scheduling a 23 hr EEG. This will not be fun but it is necessary. We will follow up when this is done. Next week we will see our pedi and hematology. Until next time.....~Jana~

Update

We saw GI, Nephrology, and Neurology today all were good informative visits. I will update with more detaiils soon but we are very relieved to go to bed tonight with another great neurologist as part of our team! We are having to make a few changes with some meds etc and we are happy with the outcome of all of our visits but so glad today is over! More to come later....