Tag Archives: Pennsylvania

A Dad’s Perspective

Day 22 of Blogging for TSC Awareness
by Kelsey and Justin Hudson  (Moon, Pennsylvania)

Justin #1Many mother’s experience TSC on a personal level daily. They’re home with their child that they’re terrified to put in daycare or attending appointments that are almost daily. But then there’s husbands, whom are hard at work. Always making sure there’s a roof over their families head, food on the table, and the health insurance that their jobs bring in is a sheer blessing.

Last year I wrote our story, “Wyatt’s story”, but this year I wanted to do something different.  I decided to do a Q&A with my husband and look at TSC from a dad’s perspective.

1) What went through your head when you first heard the doctors tell us Wyatt had TSC?

“I had no idea what it was or what it meant. I knew he had tumors in his heart and I was scared for him.”

 

2) As a working dad, what has been the hardest part of your journey Justin #2with TSC?

“Being at work when you have to take Wyatt to the hospital and appointments all the time. I wish I could be there for him. And I wish you didn’t have to do it alone.”

 

3) What is your biggest fear with TSC?

“That Wyatt will always struggle with things for the rest of his life and that I can’t fix it.”

 

4) If a child was newly diagnosed and their father reached out to you what would you tell them?

“Find the best hospital to take them to and do your research.”

 

5) What has been the happiest moment you remember with JJ and Wyatt since Wyatt’s diagnosis?

“Seeing them play together and smile with each other.”

Justin #3
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I knew there had to be something wrong for the EEG to continue…

Second Annual “Blogging for TSC Awareness Month” Day 31

by guest blogger Sandy Rhodes  (Altoona, Pennsylvania)

IMG_147969384610702My husband and I were married two years when we decided to start our family. We had it all planned out to try for a child in the late fall so that I could deliver between semesters. I was accepted into a school for my Family Nurse Practitioner degree in 2012 and didn’t want to take a semester off. The stars must have aligned just right, because we found out in October we were expecting our first child! I cannot begin to tell you the emotions of seeing two positive pregnancy tests after trying for three months with no luck (I am aware that isn’t a really long time). I was so excited I called off work thinking the OB/GYN doctor would want to see me that day.

We had our first appointment in late November that confirmed our pregnancy. We told our families on Thanksgiving. They had to know something was up when I volunteered to do the blessing before the meal. The pregnancy was not anything unusual. I was sick the first twenty weeks with horrible nausea. I was sick daily and spent my fair share of time in the bathroom. My husband was a superstar during my pregnancy. He made it to every appointment, dopplered the baby’s heartbeat daily with our home Doppler, and cared for me on top of working full time. Our labs and ultrasound were all normal. We found out we were having a boy right before Easter 2013.

The labor and delivery of our son Camden was uncomplicated. I had a great epidural! My son Camden weighed in at 8 pounds ½ ounce born July 20, 2013. No one could believe the size of him. We brought Camden home July 22nd with no complications. Things would stay relatively normal for approximately seven months.

February our lives changed forever. My husband was explaining an episode Camden had when he was giving him a bottle before bed. He said his arms flewIMG_147874206265976 up several times, and he was really fussy. I am a nurse and wrote the entire situation off as the startle reflex. It was two days later walking through Walmart when I witnessed an episode for myself. It made me uneasy to see Camden’s arm rising up to the left and his head turning that way in a series of pull like motions. I told my husband I would call the pediatrician in the morning because Camden seemed fine before and after the episodes. I thought maybe he was teething or had a low grade temp. That night as I was rocking Cam to sleep he had an episode in my arms. This is when I knew things were more wrong than I could figure out. I called our pediatrician on call who told me if it was his son he’d go to Pittsburgh Children’s Hospital. We packed a bag, called our parents, and drove the two hours to Children’s. My father and mother -in-law made the trip with us, thankfully.

We checked in and were taken to a bay in the ER. They were very slow that night and we received several ideas that seemed like minor fixes. The ER physician said he believed Camden was having intestinal pain and a minor laparoscopic surgery would easily correct this common retropulsion issue. Camden’s electrolytes came back with high potassium, but that was later found to be hemolyzed and inaccurate. That would’ve required the administration of medication to make him poop out the extra potassium. While in the ER bay Cam had another episode. I yelled at my husband to find a doctor and pulled my cell phone out to record what I was seeing.

IMG_147889059842634 We were admitted and Cam was given an IV bolus of Keppra. This made things so much worse. He had several more episodes when we reached our room. We were hooked up to an EEG machine in the wee hours of the morning for an hour long study. Cam only had one episode during this time. When the tech came to remove Cam’s leads he received a call stating he was to be left on the machine. My heart sank. I knew there had to be something wrong for the EEG to continue. Three hours into the EEG a neurologist came into the room. He explained that the EEG was showing hypsarrhythmia. This was a common feature of infantile spasms. I was kind of optimistic in the next few seconds thinking how minor most spasms are. The optimism was short lived as the physician continued to say the word epilepsy. How could my baby have epilepsy? We aren’t epileptic, our family has no history, there were no problems during my pregnancy, and he was an uncomplicated delivery! He ordered an MRI for that day.

So much had happened in half a day. I was sitting in the noisy MRI machine as my sedated baby underwent his testing. I remember praying to God to make things ok and get us home. I remember picking him up off of the table to go to recovery where my husband was waiting. I laid him down on the table so the nurse could get vital signs. The BP had not even come up yet on the machine when two physicians entered the room. We were prepping Cam for a lumbar puncture to rule out infection at this time. Then another nurse came in and removed the LP tray. The doctors looked at Mike and me and asked us to sit down. I lost it. I knew in that instant there was something drastically wrong. My mind was running wild thinking about tumors and defects and malformations.

The neurologist from earlier started by saying your son has a textbook case of tuberous sclerosis. I was sobbing and had no idea what tuberous sclerosis was. I remember trying to write down the name so I could relay it to our family, but the pen in my hand felt foreign. The doctor explained there was an amazing website to look for information because we might become overwhelmed if we use Google (TS Alliance.org). They told us our son would most likely be autistic, have delays, and had potential for other organ involvement. They remained with us for about ten minutes of crying questions about outcomes, treatments, and pathology of TSC. I asked them to spell vigabatrin about three times before I just gave up. They left us with our sedated son and the nurse.

How could this be happening to our baby? We had prayed and planned for him. We had zero neurological history anywhere on our family trees. Could things be any more crazy and devastating!? We stayed in our devastated state for several hours, inconsolable.  Our parents were trying to be positive, but we were stuck with the reality our son would have TSC for life. He could potentially some day want to have children and have to deal with this ugly disease.

It was later that night a nurse sat down with us and brought us a computer to look at the TS Alliance site. We read about others with the disease and actually watched videos of other babies having infantile spasms. It was uplifting to read positive stories of achievements and children reaching milestones. This was our first glimmer of hope that we held onto and used to fuel us to remain positive. Camden had an echo, renal ultrasound, and EKG that were normal. We used this as motivation as well. The entire four-day admission our son was pleasant and cooperative with testing.

On Sunday February 10 they decided our son was a candidate for Sabril. We signed consent forms and had our supply for home delivered that evening to 20140526_204209Children’s Hospital. Cam received his first dose in the hospital. Monday he had his eyes dilated for an eye exam which was normal, and we were discharged home. Our five day stay in the hospital revealed more than anyone could’ve ever guessed. We had a diagnosis no one locally had ever heard about.

At home we continued Sabril. Camden’s last episode of IS was February 16. He has become an even happier baby with the use of Sabril. I rely on the TS Alliance for updates and support on a daily basis. This diagnosis is not a death sentence. The overall vibe from Pittsburgh Children’s Hospital was professional and geared at being prepared for the worst. They have been excellent with our follow up care, and we have grown extremely found of Dr. Thodeson who will be leaving in June. We found our way to Cincinnati Children’s Hospital for a research study and felt a completely different vibe. They are all more personal and positive. It has been amazing to have exposure at two TS Clinics. We are in this for the long run to do everything in our power to better our son’s life. We will go anywhere, pay anything, and be there 24/7 for every up and down. This disease is filled with ups and downs. We are pretty new to the TS community, but the welcoming and support has really kept our faith alive. We pray every day for our son to live a long life, learn from everyone, and love all. We are not going to let TSC define our baby. He will show TSC who is boss! He’s come so far already. He is 10 months old and has not yet had any delays. He rolls, crawls, babbles, and has the greatest smile. We are thankful every second of every day to have Camden the baby we prayed and planned for!

This Can’t Be.

Second Annual “Blogging for TSC Awareness Month” Day 17

by guest blogger Kelsey Hudson  (Moon, Pennsylvania)

tongue

My husband and I got married in October of 2008, and in January of 2009, I found out I was pregnant with our first son, JJ. Everything was going good, I didn’t have any morning sickness and then it all hit me around four months. We went in for a regular check up and they said, “We need you to go to see a cardiologist.” I was beside myself. What do you mean a cardiologist? There’s nothing wrong with my heart.

They explained to us they couldn’t see all of the chambers of JJ’s heart. When we had our first cardiology appointment we found out that JJ may have a heart problem. After going for an echocardiogram 11 times throughout my pregnancy and my regular appointments, they labeled my pregnancy, “High Risk.” I was shocked. I was sad. I didn’t understand why. How could this be?

glue hairMy pregnancy was depressing. I tried to stay happy, but there was so much back and forth with his diagnosis because the cardiologist told us there was so much shadowing with him still being in my belly, that they couldn’t tell everything. This made me even more sad and mad. How could my baby have this? I had to drive over an hour to each appointment one way.

August came and they said, “We are going to induce you.” They prepared us that JJ could be in the hospital for a few months after he was born. We had everything set up with Ronald McDonald house, and my mom was prepared to be there through everything so my husband could keep working after JJ was born.

September came and they induced me. I was in labor, for what seemed like days! Then September 5th came and my beautiful baby was born! They had an echo done right away and came in and said they wanted to do one more before we left. “Before we leave?” I asked. The doctor came in and told us during pregnancy they thought JJ’s heart condition was a cor triatriatum, and after him being born and more echos they found out he had a left SVC. (Not as serious!)

I was scared! Scared you tell me my baby is going to have all these problems and now he can go home after almost a week? Of course I was happy too! After we discharged we continued going to see the cardiologist. When JJ was one month we moved to Pittsburgh, PA. We were here for not even two days and he started having breathing problems and GI problems.

Long story about JJ short, we were in the hospital 27 times in his first year and a half. He had many GI issues, pneumonia three times, a hernia surgery, nine ear infections, tubes, he went into Failure to Thrive and was put on a special diet with soy drinks to get him back to a normal weight. Around the age of 2 ½ everything started to settle down with JJ. He still goes to cardiology and has his regular pediatrician check ups, but all in all hes a happy, smart, loving, caring, and sweet boy!

My husband and I said we would never have more kids. This was crazy everything we went through. And so far away from family! We have no family in PA; they are all in Florida, Virginia, and Nevada. So it was definitely hard. He was working all the time and I was at home. I would work night shift when he jj and wyattwould get home.

We had a blast with JJ. He was the light of our life! We started having fun, and doing things as a family such a little trips and whatnot. JJ loved other kids. I always thought about how he would be as a big brother, but never thought I would get pregnant again.

When JJ was 3 ½ we found out I was pregnant. I said WHAT? I was happy, but SO SCARED. I started going to my first appointments and told them all about JJ and my pregnancy with him. So right away they said, “We need you to see a cardiologist for a few echocardiograms while you are pregnant.” Immediately I thought, really, again? I can’t stand to see another baby go through so much. I was praying everyday he was fine.

We had our first echo, and they said we need you to come back because we can’t get good pictures of his heart right now. So between waiting and the next appointment, I was freaking out everyday. We had a second appointment and they said, “Ok guys, everything is fine! He is a healthy baby boy!”

I cried! I was so happy! I was ready to have a “normal” pregnancy and get excited about having a family of four. We decided to name him Wyatt! Things were great. We continued working separate shifts, and that way JJ was always with us and doing fun things! He did go to a little preschool for a few hours a week, and really enjoyed that.

All in all, my pregnancy was good. I had a few pain issues and some other minor things, but my boss was a good friend and she let me take it easy at work. I then hit my 39 week mark, and nothing. No baby yet. JJ was born a few weeks early. So I was ready to have Wyatt! They told us I was going to be induced. I hit 40+ weeks! I went in on a Tuesday night and they induced me. I had Wyatt at 11:54 am on Wednesday, and around 5 pm that day I was feeling on top of the world. I asked to go home, haha!

They said if you feel good enough you can go tomorrow. So I went home Thursday morning. I had to take Wyatt to the pediatrician on Friday because technically he was leaving the hospital early, and they wanted to check on him and his weight! He was born 8.4, my big boy! Things at home were going great, and around three weeks old, Wyatt started breathing very noisily. We called his doctor, and they said take him to the emergency room.

I was scared again! Thinking, oh please no, everything is good, everything with Wyatt is supposed to be fine! Nothing should be happening. So, at 2 am I took Wyatt. They checked him out, and told us he had periodic breathing. We were told not to be too concerned and to keep an eye on him but to make sure to get him to cardiology to have a double check, because of his brother’s heart history.

I didn’t even know what to think. I was in tears. My husband and I were so scared. September 30 came and JJ and Wyatt had Cardiology appointments. They did an EKG, and echo for JJ, and said he’s looking great. We want him to have a MRI around 8 years old. But for now we can stick to his yearly echo’s and checkups! Then came Wyatt’s turn. We thought oh this is so crazy, and silly. He’s fine.

His EKG was abnormal. My heart stopped. His echo showed four tumors in his heart. We were speechless. At this time cardiologist didn’t have any idea what these tumors were or if they were a sign of anything. He said three were small and one was big. They had another doctor read the results and go over things before they called us back in to talk to us.

We were told to come back in one week for a 24 hour halter monitor. Then after we did that, he had a sedated three-hour MRI of his heart, a scope down his throat and met with an airway specialist. That three hours was the longest of my life. At this point I had no idea what was going on with Wyatt. On Halloween of 2013 we were told we needed to see genetics because they believed Wyatt had major signs of Tuberous Sclerosis Complex.

Tuberous Sclerosis Complex? Is this real? I have never heard anything about this disease before. Of course I Googled and that was when it all hit me. My mom and best friend did a lot of research with us, trying to make sense of all of this. How? Why? Again, Why? Not my Wyatt! They told us everything was ok.

sneakyAfter seeing genetics and doing the blood work, we found out Wyatt had TSC. His mutation was TSC2. My husband I were tested and we were both negative. I don’t even know how I felt at that moment. The weeks we waited to hear about the blood work we kept saying, no, yeah right, not Wyatt, everything is ok. Wyatt has ash leaf marks on his skin, but we thought those were birth marks! I felt so stupid for not seeing any signs.

It feels like we have been through so much in such a short period of time. From August 21, 2013 to January 11 2014, we had been to so many doctors, finding out so many new things about TSC. They also had Wyatt getting the Synagis shots for RSV once a month for five months, to help protect him from getting RSV.

January 11, 2014, Wyatt had his first seizure. JJ was sitting next to him, and I was folding laundry. JJ was scared and so was I. We called his doctor, and we went to the hospital right away. He stayed for four days. He had an MRI of his brain andwas on an EEG the whole time he was there, except when he had the MRI. I was so sad. I couldn’t believe what was going on. He was put on a seizure medication and after four days we went home.

When I got home I was afraid to even leave the room or set him down. I didn’t want anything to happen and I didn’t want to miss anything either. About a month went by and we started seeing him having infantile spasms. This was something they warned us and talked to us about. But again, I never thought Wyatt would have them.

He stayed in the hospital for three days this time. And they put him on another medication. These were the hardest to see him have. JJ was going through a lot watching his brother go through so much. How do you hide that from a 4-year-old who is very curious about everything? I couldn’t. I also didn’t try to explain everything to him — I just let him ask questions and we would try our best to answer and make him feel better.

So now we travel to Cincinnati Children’s Hospital, which is about five hours from where we are to see Neurology there. We LOVE THEM! Wyatt has PT and OT, and now they added a developmentalist. Wyatt is weaning from a med right now that they believe has caused some of his delays. They are having him wear hand splits to help spread out his fingers and make more room for him to use this thumbs.

Ophthalmology found a tumor on his retina, and during his check up they said he was near sighted. He is a strong little guy! And smiles all day everyday! He just started sitting about two or three weeks ago all on his own and strong! He will be 9 months old on May 21. He is my WARRIOR! And JJ is my sidekick! Its hard going through all of this everyday.

I cry, I get sad, I get mad. But at the end of the day, I always smile because I have both my boys at home with me. My husband and I live for the nice days to take the boys outside with our dogs and let them be in the fresh air!

What a journey it has been and looks to be.

I just want to know Wyatt will be ok. And I feel that no parent should ever have to ask or worry about that.

It isn’t going to be easy, but nothing worth doing ever is.

Second Annual “Blogging for TSC Awareness Month” Day 3

by guest blogger Michele Stiefel  (Lancaster, Pennsylvania)

adam 5In March of 1985, our second son was born.  Adam was the baby I could relax with, knowing a bit more the second time around.  But by May, Adam was hospitalized with his first seizures and flown from our local hospital to Children’s Hospital of Philadelphia where he was diagnosed with tuberous sclerosis.  No one in our family had ever heard of this disease.  No one had ever had seizures.  Our world felt like it had blown to pieces.  His four-year-old brother, Ben, felt like he had caused the baby’s illness because he had been so jealous.  Ben began to act out and we sought out counseling to help him and us.  Slowly over that summer, we started to try to find some kind of normal – going to the local mall, taking Ben to his swim lessons and so on.  We waited anxiously for Adam’s early intervention program to have his spot available in the fall, but before we could start – Adam was back in Children’s Hospital with infantile spasms.  The next three years were nothing short of awful as there weren’t the kinds of meds back then that are around now.  We never really got control of the infantile spasms and he went from a smiling baby at 4 months to a lump that didn’t cry, didn’t coo, and didn’t roll over…just laid where ever he was placed and kept on having seizures.  That was our beginning…

Fast forward two years and Adam is five.  The infantile spasms are fading out although his “Heinz 57” varieties of seizures are still around.  But he’s no longer in the fog of IS:  he smiles, has a beautiful face and people fall in love with him easily. He’s learned to sit and crawl. He’s standing but hasn’t taken that first independent step yet.  My husband and I hire his early intervention teacher to do respite with the boys overnight so we can celebrate our 10th wedding anniversary at a nice hotel.  When we get home the next morning, Adam greets us by walking independently around the corner!  Stinker took his first steps while we were away!  It was the best present we ever received.

Early intervention those first five years helped Adam and our whole family to survive.  We learned to hope and dream of a future, not just of limitations but of having him experience as much of a normal life as his older brother with the same opportunities and experiences – adapted Adam-style.   It wasn’t going to be easy but nothing worth doing ever is.

The first big “normal like Ben” goal for Adam was to attend weekend religious school at our synagogue.  There were no other children with special needs in adambmitzvahthe building and our rabbi wasn’t so good at “getting Adam.”   Luckily I’d met another Jewish mom in town whose son was a couple of years older, also non-verbal, who used a wheelchair.  I talked her into joining and we started our own class with our boys.  About the same time I volunteered to serve on the synagogue board of directors because the best way to make things happen is to become a decision-maker with a voice and a vote.  Then the rabbi who didn’t get our kids took another job in another city and the search committee started looking for a new rabbi who would be willing to do Bar Mitzvahs for kids with special needs.  We got a great one.  Our boys started studying extra with the rabbi, listening to Bible stories, handling ritual objects, and being recognized in front of the entire religious school just like the rest of them.

At 13, Adam had his Bar Mitzvah and it was wonderful!  He loved Jewish music, so we hired a Jewish folk singer who wove music throughout the service.  Adam is non-verbal so he couldn’t lead the service like a regular Bar Mitzvah boy would.  Instead he worked for two years to be able to hold a special wine cup upright throughout an entire blessing without putting it down or spilling it.  He learned to hold and “hug” the Torah scroll on his lap without letting go.  Being non-verbal he couldn’t read from the Torah in Hebrew so his brother read for him.  This was special – no one is allowed to touch the Torah scroll where the Hebrew is written.  One uses a special pointer to follow along.  Big brother Ben held the pointer and Adam’s hand at the same time as he read so that Adam could “read with him.”  To keep Adam from fidgeting, Ben used one finger to tickle Adam’s palm because it calms him — all while they were doing the Torah reading.  The sanctuary was full and there weren’t too many dry eyes in the house.  We followed it up with a great party and Adam definitely knew he was the guest of honor!

Adam went to a special needs summer day camp from the age of 8 to 21 and had lots of fun.  Swimming wasn’t his thing but music time was.  He participated in programs as a teen where he got to hang out with another teen or college student and do regular teen things.  He went to four proms and had a date for each one of them!  He discovered blondes… :)…he really likes blondes.

The summer after aging out of school at 21 was scary.  A rare malignancy was discovered in his colon.  Surgery to remove half of his colon and three weeks in the hospital with complications followed.  He was down to 85 pounds and took a good two months to recover.  Then it was time to begin his journey into the world of adult services.  We did not want Adam to be inside four walls all day in a sheltered workshop environment.  So he became one of the first participants in a new pilot program taking individuals with severe adam promdisabilities out into the community as volunteers.  He helped with Meals on Wheels – his staff would drive the car and knock on the door; Adam would hand the lunch to the senior citizen.  He made lots of elderly friends on the route.  He worked in local libraries, pushing the books onto the shelves (with hand-over-hand support by staff).  He was a busy young man and enjoyed being out and about in the community.

Through one of the programs, Adam met Matt who is also non-verbal and has autism.  Just picture two non-verbal guys making eye contact with each other and laughing and insisting on sitting together every day at lunch.  The program staff told me about how great they were together and said, “They should live together.”   I sent our contact info home in Matt’s backpack and his mom called me.  We started to get the guys together on Saturdays for pizza and we began to talk about the possibility of them living together.   News traveled through the system about these two guys and how great they were.  The head of the county intellectual disability department called us, said he’d heard about these two and were we ready for Adam to move into his own place with Matt?   Adam was 24 and we said yes because one of our dreams was that Adam would live with a friend, not just in a place where there happened to be an opening, but with someone he truly liked.  He’s lived there since 2009 and he loves it.  He’s thrived there, gaining in independence and doing things there that he’d never do for me at home!  He’s in a community he knows well, having grown up there.  We are able to keep an eye on things and be involved while we are still healthy and able because we’re in our 60’s and none of us live forever.   As parents our job is to give our kids “roots and wings”.  Big brother, Ben, went to college, started a career, got married, and bought a house.  Adam has his jobs, social life, and lives in a house set up just for him and Matt.

I mentioned that Ben got married.  Guess who was his Best Man?  Adam beamed with joy throughout the entire wedding weekend.  And boy!  Were they both handsome in their tuxes!

benadam

Finally, it’s important to know that we went through really hard times with his tuberous sclerosis, just like a lot of you.  Recently he was diagnosed with Crohn’s disease, totally unrelated to his TS, so he gets two chronic illnesses to deal with and it feels really unfair.  There have been times over the years when I fantasized about throwing my suitcase in the car and heading west and never looking back, but I never did.  Instead we used counselors, behavior therapists, doctors, teachers, compassionate friends and family to help us get through the worst.  Now after 29 years, I see what our family has accomplished and I know we more than survived, we thrived.  We are all better people because of having Adam, TS and all, in our lives.  So keep dreaming of possibilities for your kids – you never know what you can achieve!