Our visit at C.H.O.P

Yesterday I took 4 of my kids to Childrens Hospital of Philadelphia, considered one of the best children’s hospitals in the world, possibly THEE best, so Ive been told by other doctors including Dr Brugada.People travel from around the world to go there and Im lucky to be 90 minutes away from it. My 5th child is almost 18 so she will see my EP next week.We saw a highly qualified, highly recommended doctor.Matter of fact, we saw 2. At the hospital TWO highly qualified EPs looked over my children and repeated the exam so the 2 can discuss our family and both agree on the proper treatment. I loved this because its like getting 2 opinions at the same time. For 4 kids it was a 2 hour appointment.It started out with weight, height, a pulse ox and blood pressure. Then we moved to have each child have 2 EKGs. One with the leads in the proper place and then a second where 2 of the leads are moved up. Sometimes moving those 2 leads can make a difference between a normal and abnormal EKG in the young so I was impressed that they did both. That was a total of 8 EKGs. The first doctor examined them, did a family history and had me discuss my story and then left. The second doctor, the head doctor/ head EP/ and professor at the teaching hospital, came in and repeated the whole thing. A nurse came in and had me fill out all the forms to fax right away to the genetic lab that I used to get the tests authorized quickly. Then the lab will mail me the test kits, I take them to the lab to have the blood drawn, mail it back to the genetic lab and wait. The lab calls the doctor who will call me with results. That should be in 4-6 weeks. The visit ended with her putting a 24 hour holter monitor on all the kids to see if any BrS signs show up in the next 24 hours. Brugada signs change day to day, hour to hour, so this assures an even more accurate reading. So where Im at right now is none of my kids are symptomatic (no fainting, black outs, v tach, v fib, abnormal EKG) Unfortunately a normal EKG does not mean you DONT have Brugada. Its a nice base line to see if they have a worse case by it showing up right away like me but in general plenty of people have normal EKGs AND have BrS. So what are we doing now? Their diagnosis will be based on genetics because lucky for me I am one of the few who tested positive.That means the geneticist can zoom right into the mutated gene I have, in my kids. If there is no mutation present on that gene, they dont have Brugada. Specifically for my family, a negative gene test and normal EKG is enough to dismiss them as not a BrS patient. This doesnt happen all the time. Plenty of people test negative for BrS but still have it. Thats because not all BrS genes have been discovered yet.So you can have it, but the gene is still unknown. The ONLY reason its that simple for my family is because they know the EXACT gene that would be passed down. So if they dont have that mutated gene, they dont have it at all. They cant have Brs from me WITHOUT having the same mutated gene as me. Having a positive gene test has simplified diagnosis for my family TREMENDOUSLY. So what happens next? We wait for results and find out through genetics who has it and who doesnt. She is very conservative with putting ICDs in. She doesnt like to give them to children if they dont REALLY need it because she said the risks are too high. Of course, if they develop symptoms , that would be another story. But for now, they are symptom free, and if they are positive, that still isnt enough to give them an ICD. And I agree with that totally. The children that are positive will be monitored by her every couple months to see if anything has gotten worse or changed.She is confident that although BrS DOES happen in children , it is much more rare and the danger zone indeed is the 20s and on. Of course there are children with severe Brugada but its not as common as an adult having it. She did say she would like us to buy an AED, an external defibrillator, for home. We need to treat fevers aggressively, avoid over heating in the warm weather and dehydration to prevent electrolyte imbalance and comply with the drug “do not take” list.We also need to take the kids to the ER for an EKG when they have a fever to see if their EKG switches from normal to abnormal with fever, which is common. I still dont know who has it, and Im still very nervous. But Im happy to have found a specialist with Brugada in children. I get tired of explaining to doctors and nurses and its nice to have a doctor who has plenty of other BrS patients.I know they are in the best care. I guess the good news is whoever has it, at this point, they dont require an ICD.Later in life will they need it? Probably because BrS only gets worse with age.But for now, while they are innocent children they dont need to worry about it. If they get symptoms, that changes the whole game so I will continue to pray for that. Whoever has it, has it. I cant chnage it. But I can at least hope they stay symptom free and if it does progress with age, I pray they have the wisdom to get an ICD to be protected…

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3 Comments (+add yours?)

  1. Patrick
    Apr 26, 2017 @ 08:43:09

    Hi Alicia,
    I’m actually reading most of your blog at work 🙂
    I am diagnosed with Brugada as well, but will get into that later. I wanna finish your whole blog first. Which brings me to the following… I’m reading it chronologically. Thusfar i’ve read things and have to keep reminding myself to post some comments later on (unless earlier posts (that i still have to read) show that i don’t need to).
    But that is near impossible to do, lol.
    So, unless it annoys you, i’m just gonna comment as i go along. Starting from here…
    (Please stop me, if it bothers you)
    Regarding this post: Again… i don’t know if you well get into it later… Looking for the specific DNA defect/mutation in your children does NOT give you a 100 procent guarantee that your children don’t have Brugada. We were recommended to keep getting the one that is supposed to be safe, fever EKG’s. That is… he has now had a fever of 40 degrees and showed no signs of arrythmic events. We now need to come back in a few years ór if he spikes a fever over 40 degrees.
    Brugada, i am told, in some families where it is ruled out through DNA-research, can still pop it’s ugly head up. Very unlikely though. Like one in a thousand, but still…
    P.S. I love what you are doing. In Holland, where I am from, some woman is doing the same. You might know her, as she even has a referral to one of your blogs.
    I will get into my own story later, i have to talk to some people if it’s okay i bring up what has happened.

    Reply

  2. Jane Burns
    May 02, 2013 @ 12:03:02

    Hey just checking in to say Hi and tell you that are a wonderful, caring mother and you should be so proud of yourself for handling all of this so well, we love you all and were hoping for the best results xoxoxo

    Reply

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