Day 2 of Blogging for TSC Awareness Month
By guest blogger Paula Krischel (Dwight, Illinois)
My story started when I noticed my infant son, who was 11 months old, puking and seizing. We went to our local hospital, and his pediatrician knew it was more than he could help with, so he sent us to Chicago. That was the first time we met Dr. Huttenlocher and started our long journey with TSC. Never in my wildest dreams could I imagine that I had this disorder for 26 years, and was completely unaware.
My world was falling apart. I became depressed, and my son was having uncontrollable status epileptic seizures. I not only had to learn all I could about this disease, and the fact we had to live day by day to see how it would affect our boy, I had to learn to accept that I do have this disease and cope with the guilt I felt about giving him this terrible thing! Mason, who is now 17, ended up having global delays; he is severely affected by this disorder, severely autistic, and will never have the ability to live an independent life. We started with therapy at a young age, but did not see much progress for many years.
We were feeling compelled to have another child, feeling Mason needed a sibling to help him learn. We prayed a lot and had Joshua. Joshua is now 14, board scholar, and wants to one day be a geneticist and work in gene therapy. As of now, he shows no signs of having tuberous sclerosis, and he wants to one day find the cure for it. We have advised him to get genetic testing done when he decides to have a family.
When my Joshua was 10 months old, I found out I was pregnant again. Eight months later I had Adin. I was not as comfortable about this pregnancy because we were planning on stopping at two. We found out through ultrasound, at seven months along in the pregnancy, that he too would have that terrible disease called tuberous sclerosis. We did a lot of praying, and even though he is autistic and has global delays, he is a ray of sunshine who can brighten anyone’s day. He is considered mild/moderately affected by this disease. He is able to communicate with us, but his older brother is very limited in his speech. Even though he started out with infantile spasms at three months, we have been able to keep his seizures under control fairly well for 13 years. He did have a breakthrough grand mal once, when going through a growth spurt. He has been under control again since 2009.
We have spent countless minutes with doctors, tests, speech therapy, occupational therapy, music therapy, physical therapy, behavioral planning, making safety plans for at school and home, and the list goes on.
Now our latest scare is me. Recently I found out my tuberous sclerosis is wreaking havoc in both of my kidneys. I get to start the new medicine Afinitor to see if we can save my cyst-filled kidneys from getting any worse. Both of my boys are on it as well for SEGA brain tumors. This is the first time I have been seriously concerned about my own health. I am the main caregiver of my boys because my husband is a very hard-working plumber, who works diligently so we can pay for all the expenses this disorder accrues. There never seems to be a very long break of good health in our family, but because of this disorder, we are stronger, more loving, and cherish all milestones that we conquer! For that I am thankful to TSC. Even though our life is crazy, and the stress seems to pile up constantly, I would not change my life for one second…and continue to look forward to the future!!!
Check out her son’s post here.
- MicroRNA-21 is Induced by Rapamycin in a Model of Tuberous Sclerosis (TSC) and Lymphangioleiomyomatosis (LAM) (plosone.org)
- Experimental Treatment For Rare Pediatric ‘Pretzel Syndrome’ Halts Intractable Seizures (medicalnewstoday.com)