Winter: A New Day

I have never been happier to see a month end than I am now that January is finally over! It felt like one of the longest months since before we had Elias, and definitely came with some challenges. This month brought with it new, not so good, information about Elias, changes with both mine and my husband's jobs, and ended with all of the family getting a nasty stomach virus. I am glad to see January go! As the month came to a close, though, there was a glimmer of hope... a glimmer of the "light" at the end of the tunnel.

The not-so-good news first... before kind of "severing ties" with the team at UVA, we were consulting the the neurologists there regarding an added diagnosis. Elias has also been diagnosed with West syndrome, which is basically just a diagnosis that encompasses the type of seizures Elias has and the type of brain activity is shown on his EEG (http://rarediseases.info.nih.gov/GARD/Condition/7887/West_syndrome.aspx). This news was somewhat disheartening as it may eventually lead to Lennox-Gastaut Syndrome, which can cause learning challenges and developmental delays, but I am not claiming that over my child's life, even if it is what a doctor says.

So with that said, on to the better news: Last week we took Elias to his doctor's appointments with three of the doctors on Elias' health care team in Roanoke. We met with the geneticist, the pediatric neurologist and the pediatric cardiologist. 

Appointment 1: The Geneticist
We got the results back from the genetic testing we had done at the end of last year, that shows exactly what gene is mutated, and confirmed that Elias (and subsequently myself) do have TSC. There are two different types of TS. Elias has TSC type 1, which is the lesser of the "two evils" so to speak. TSC1 is not associated with as severe disease/disabilities and mental "handicap" as TSC2 (http://www.tuberous-sclerosis.com/health-care-professional/geneticprofile.jsp). So, considering everything, that gave us something in which to be thankful.  

The geneticist will continue to follow Elias, and now myself, and assist with scheduling yearly ultrasounds, screenings, and scans and consult with us throughout this process. 

I will be having a chest CT, renal ultrasound and MRI this week to check and see if there have been any changes in my lungs, brain, or kidneys/liver. I haven't had these "check ups" for 10 years or longer (back when they suspected I may have TS, but never had a definite diagnosis), and am a little bit nervous/anxious this time around. 

We also had somewhat of a difficult conversation regarding the genetic component of TS and the probability of TS passing to another one of our children being 50%. This is one of the more difficult topics for me to come to grips with as I always wanted and felt that I would mother more than one child. There are a lot of different options out there, but we are not really at a place to even begin considering the idea of a second child and all that it entails. My primary focus remains on Elias and getting him "seizure-free" or as close to that as possible, and continuing his early intervention to assist his development and learning.

Appointment 2: Pediatric Neurology
This appointment was more of a consultation bringing the doctor up to date on Elias' current medications, weaning schedule, and our next steps since we are relying more on the Roanoke team for Elias' care at this time. Traveling to UVA has been an added stress and hardship and hasn't really provided us with the answers or results we were hoping for initially. At this point, we were in the process of going to DC Children's Hospital to begin Elias on the ketogenic diet, however, we were put into contact with a highly recommended dietician from Wake Forest and may be pursuing that professional to assist us with the ketogenic diet instead since it is closer to us. More on that as we take the next steps.

Appointment 3: Pediatric Cardiology
This was sort of an "add on" appointment, but was convenient enough considering it was in the same office building as the previous two. The doctors here just wanted to follow-up with us on Elias' care after finding a mobile mass on Elias' pulmonary artery a couple of months ago. The best thing happened at this appointment. They did an echocardiogram on Elias' heart to see if any changes had occurred and sure enough.... the mass from a couple of months ago was GONE! Elias' heart is back to normal and functioning great! They dismissed us as patients and said they would no longer need to see Elias! So, one less doctor on the team, and that is not a bad thing!

We have also discontinued the vigabatrin medication, have lessened the dosage of keppra, and have increased the topamax dosage and Elias' seizures have not increased! Elias has started smiling again and laughing and looking at us instead of through or over us. Things are definitely taking a new turn, we have entered into a new day, and we are feeling a renewed feeling of encouragement and hope!

Thanks to everyone for the continued prayers, concern, comments, encouragement and support through all of these past 4 months!

To be continued!