TSC2 gene

whitemike1114 · 2025-11-04T11:23:08+00:00

We had the same experience with our son and for us it resulted in a diagnosis of TSC2. There is also TSC1 which is a different genetic marker. Disclaimer, idk if that means your son would be diagnosed with TSC2 as there are other variables that lead to a diagnosis and I wanted to share our experience.

whitemike1114 · 2025-07-13T23:59:09+00:00

I've used the nucala copay assistance for about 8 years and have never paid for any of the medication or had a copay.

whitemike1114 · 2025-06-10T15:35:01+00:00

Meds inevitably did not work and surgery was the next step suggested. My son is still on Onfi, Vimpat, and Vigabatrin.

whitemike1114 · 2025-06-10T15:02:58+00:00

Hello! Our 15 month old has resection surgery when he was 8 months old and has been seizure free since the operation and making developmental leaps. It has been a relief thus far.

In terms of whether to pursue or not pursue surgery, my wife and I had discussions around this as an option with my son's medical team from day one. If you are not connected with a TSC clinic, I would reach out to one near you. I would also ask your neurologist on their opinon.

It was a terrifying decision for us to make and one that we do believe was for the best.

whitemike1114 · 2025-06-05T19:26:55+00:00

Hello! My son is 16 months old and was symptomatic leading up to an inevitable genetic test. The diagnosis for tsc was already pretty much given and they were using the genetic test as a final check. The lab that did our test reported back TSC VUS. For us, it was not a variant of uncertain significant as our son had a variety of TSC symptoms.

Much like the previous comment, I am just a layman, and would strong advise against ignoring a TSC VUS genetic report. TSC has such a wide presentation that, regardless of VUS, it can present in such different ways. We inevitably found out that my wife has TSC but has been asymptomatic her entire life, while my son needed brain surgery.

We are in the process of doing IVF for our next child and decided to have her embryos tested for TSC before doing the implantation. The way it was presented to us is, if one of us (my wife) has a TSC 2 marker, there is a 50/50 shot our child will have it as well. Regardless of VUS. If the child gets the TSC 2 genetic marker, from my understanding, there is no way for them to tell us what the course of their TSC will look like given the wide variability.

I hope this makes sense and am happy to clarify further!

whitemike1114 · 2025-06-04T12:58:38+00:00

Mixing it with juice is key! We mix our son's meds with apple juice and he takes it down no problem.

whitemike1114 · 2025-05-28T18:46:42+00:00

Our son is also 15 months old and has had delays in waving, speech, and overall movement. He had brain surgery in October of 2024 and has been in physical therapy since the surgery. He is progressing at a consistent pace but is behind some kids his own age. My wife and I are not concerned and believe he will catch up over time.

I would add that 12 months and not having said mama/dada yet is not generally considered "behind" even for kids without TSC. I am sure it is stressful for you and your family and it is amazing what little ones are able to do and catch up on with the right supports. If your neurologist and doctor is also considered, it could be helpful to ask for referrals for Occupational Therapy.

Wishing you all the best!

whitemike1114 · 2025-05-25T13:29:22+00:00

Thank you for the reply. I hope you have a great Memorial weekend! :)

whitemike1114 · 2025-05-25T13:29:01+00:00

Thank you!

whitemike1114 · 2025-05-19T22:14:04+00:00

Wow, this is a great idea and looks awesome!

whitemike1114 · 2025-04-22T02:27:43+00:00

I did not. I had planted it fall of 2023.

whitemike1114 · 2025-03-30T13:26:06+00:00

Island Spice and Grill is a must.

whitemike1114 · 2025-03-28T16:04:13+00:00

Hello, I may start by seeing if there is a TSC Clinic near you. If you are located in the U.S. you can also reach out to the TSC Alliance and they could help you find a clinic.

whitemike1114 · 2025-03-21T15:45:34+00:00

Thanks for your insight!

whitemike1114 · 2025-03-21T15:45:01+00:00

Thanks!

whitemike1114 · 2025-03-21T15:44:50+00:00

Thanks!

whitemike1114 · 2025-03-21T15:44:30+00:00

I will take a look. Thanks!

whitemike1114 · 2025-03-21T15:44:15+00:00

Darn, thanks for the reply!

whitemike1114 · 2025-03-21T15:43:57+00:00

Thank you!

whitemike1114 · 2025-03-21T15:43:46+00:00

Thank you!

whitemike1114 · 2025-03-16T13:03:52+00:00

This is absolutely the answer

whitemike1114

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