Son has DEE-SWAS epilepsy, heart rate spikes & genetic mutation

One other thought, but I'm sure this has been tested and ruled out by now: hyperthyroidism.

I believe thyroid tests has been normal

I have SVT (Supraventricular tachycardia) it is in the family big time. This cardiologist I have is a testing freak. I finally had to say after $10,000 of testing with different tests...stop! I do not have money tree in my back yard. I did a stress test...I get on the treadmill and my heart is already pumping at 147. When he tells me walk slowly...my heart, within
1 min 47 sec, shot up to 165. So, that is the limit they stopped the testing. I failed miserably. The beats were shooting downward and upward. The heart doc says we have to do a nuclear stress test. I said no...no more tests you should have enough results to make a conclusion. He did not want to be bothered with me anymore because I refused more testing. My family doctor has me on 50mg of Metoprolol 3x a day...I still get papitations and when i go to bed all I can hear is my racing heart. My BP is always high and my RBC count as well. Doctors just seem to give up on a person when they cannot find an answer OR they test you till you are financially in a bind. I am also on meds for hypothyrodism...and it is when i take the synthroid that my heart really starts beating fast.

I’m sorry. So frustrating. Yes the testing is just endless. Draining time, money and sense of well being.

My wife has hypothyroidy and must be tested at least once a year to ensure she's getting a safe level of synthetic thyroxin. Sometimes the levels fluctuate for no apparent reason. Do you have a recent endocrinologist's assessment?

My sister-in-law also has arrythmia (AF) when she goes to bed, but rarely at other times. This is surprisingly common, and may not be related to your thyroxin exposure.

I have had to endure two MIBI stress tests where the radio-opaque dye is injected into an IV as you get near your maximal heart rate during the treadmill portion. I would avoid those just for the sake of keeping your radiation exposure to a minimum, but I didn't challenge them since I'm not an expert. I ended up with an ablation by an electrophysiologist, but not until the second MIBI, two years after the first, and not until an angiogram to ensure no blockages caused by plaque in my coronary arteries.

They call the shots if you want their care. If you insist on calling the shots....................................

I don’t know if they are heart related , seizure related or sleep apnea related. Or maybe all three.

I found some studies relating the three to sudep but I can’t post links . Oh well

I have a genetics questions and need an analogy to explain it.

So analogy : is the name like HDAC4 is the chromosome and equate it to like a us state.

Then the 2q37 might be like the county

2q37.3- might be the city

The type of mutation like missense is like the street name

Then the actual location of the gene is like the house number

Can someone help me understand this?

Hi @happyccl8, I see that you are doing your homework as you prepare for your upcoming appointment at Mayo Clinic Children's Center. To help people understand more about your son, I merged the 4 discussions into one. This discussion appears in multiple groups: About Kids & Teens, Epilepsy and Heart Rhythm Conditions.

I believe you may be referring to the 2q37 3 deletion syndrome.

I also noticed that you tried to add URLs to 2 studies. You will be able to add URLs to your posts in a few days. There is a brief period where new members can't post links. We do this to deter spammers and keep the community safe.

Let me post them for you:
- Paroxysmal activity and seizures associated with sleep breathing disorder in children: A possible overlap between diurnal and nocturnal symptoms https://www.sciencedirect.com/science/article/pii/S1059131110001792
- Low Oxygen During Seizures Tied to Heart Problems https://journals.lww.com/neurotodayonline/fulltext/2011/10200/low_oxygen_during_seizures_tied_to_heart_problems.7.aspx

May I ask what specialist you will be seeing first? Have you started a list of questions?

@happyccl8, me again. As you prepare your questions, I thought you might appreciate this information:
- Developmental/Epileptic Encephalopathy with Spike Wave Activation In Sleep (DEE-SWAS) https://www.epilepsy.com/what-is-epilepsy/syndromes/dee-swas
- 2q37 deletion syndrome https://www.rarechromo.org/media/information/Chromosome%20%202/2q37%20deletion%20syndrome%20FTNW.pdf

I'm sure you've seen this info already, but just in case you hadn't, I thought I'd send them.

My son has four HDAC4, MAP4K5, UNC13D, CARD14- no deletions but missenses and frameshift. I haven’t begun my questions as I’m trying to do my research and make sure I have all the terms and concepts right. Wished I paid attention more in my genetics class back in the 90s at CAL. Sigh

I believe I will be seeing genetics online first before we even leave for Mayo Clinic

Then I believe we see immunology and neurology next. Has MRI, short egg and over night eeg. Maybe an ecg which might be a heart test idk.
Be there for a whole week.
Any ideas what questions to ask?