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Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

Finding Family Through TSC

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Day 8 of Guest Blogging for TSC Awareness Month

By guest blogger Karren Nelson  (Brunswick, Ohio)

feb3_2011My son Joel was born on February 3, 2011. After struggling for a couple years with infertility, my husband and I felt extremely blessed when we were finally able to hold our precious miracle in our arms! Doctors did routine exams on Joel after he was born. They told us he was healthy, but they did notice a long white patch (almost looked like a blister) on his right arm. They had no idea what it was or what caused it, so we were sent to a dermatologist when he was around three months old. By the time we saw the dermatologist, the white patch on his arm had changed in appearance and texture. The dermatologist told us it was linear epidermal nevus–just a cosmetic thing and we had nothing to worry about. We went home that night feeling relieved.

Months later, when Joel was seven months old, he began doing a strange head nodding thing. He would slowly drop his head and then quickly jerk it back up. The first time he did it we weren’t sure what to think; we had never seen anything like it before. When it continued the following day we knew we needed to see a doctor. We quickly scheduled an appointment with his pediatrician, and we tried our best to video record the heading nodding episodes to show the doctor. The pediatrician watched the video but almost sent us home, telling us he didn’t think we had anything to worry about. I knew in my heart there was something wrong, so I spoke up and questioned whether it could be somehow related to the white patch on Joel’s right arm. He was honest and said he had no idea, but he would call the dermatologist to discuss it. The next april2013eegmorning the pediatrician called me and said we needed to see a neurologist because Joel needed to have an EEG as soon as possible.

An hour after Joel’s EEG we were able to see the neurologist to discuss the results. The neurologist walked in the room, sat down and said, “The EEG showed abnormal activity which we believe is seizures, mostly on the left side of his brain, so we would like to do further testing to rule out a condition known as tuberous sclerosis complex, which can cause tumors to grow on the brain.” We had no idea what she was talking about. We had never heard of TSC before that day. I honestly can’t even remember anything else that was discussed during that appointment… All I could hear was my baby might have tumors on his brain!

The next step was for Joel to have a sedated MRI. We were terrified. I couldn’t handle being in the room and seeing Joel be sedated so Jeremy stayed by his side. When he walked out with tears in his eyes, I lost it. He told me he never wanted me to see that. It was the hardest thing he ever had to do. The nurses told us to go have lunch while we waited. We walked to the cafeteria but we could barely eat anything. We kept looking at the clock, wishing time would speed up so we could see our baby again.

When we finally received the MRI results we were devastated. The MRI showed Joel has tubers on his brain. Further testing also revealed he has rhabdomyomas on his heart. The good news is we were able to control his seizures very quickly after trying only one medication.

teamjoel_seattlewalk2012The hardest part of this whole thing was that we were miles away from any sort of family support system. We were living in Washington state for my husband’s career with the Navy. Jeremy’s unit was supportive, but we still felt so alone. During our first Step Forward To Cure TSC walk we realized we were wrong–we did have a support system there. A group of military friends came out to walk with us so we wouldn’t have to walk alone. That meant more to us than any dollar we were able to raise! I still get emotional talking about it!!

These days Joel is doing well. We have to monitor his weight very closely though, because if he gains too much weight, he starts having staring spells and we have to increase his dosage of medication. We are also watching his developmental growth very closely because TS can cause delays. He is in a grey area, right on the border of having delays in certain areas, so I’m constantly fighting with early intervention services to get Joel the help he needs. It’s frustrates me that we have to wait until he is extremely delayed to get help. You would think it would make more sense to be proactive with speech and occupational therapies BEFORE he is too far behind!

We recently moved to Ohio to be near my husband’s family. Moving here has been great because we are able to see a TS specialist. It’s amazing to be able to talk to a doctor that actually understands the condition and everything that comes along with it!

In February I had the amazing opportunity to join the TS Alliance for March the Hill. A very special lady named Dee told me that every time the Alliance gets together it’s like a big family reunion… She couldn’t have been more right! Everyone was so welcoming and instantly supportive. I don’t know how to explain in words how it felt to be surrounded by people that understand what we’re dealing with. I’m counting the days until we can all get together again though–I can’t wait to see everyone at the next “family reunion!” 🙂

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Please check out Karren’s blog at http://www.nelsonfamily2008.blogspot.com
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Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

Cole’s TSC Diagnosis

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Day 4 of Guest Blogging for TSC Awareness Month

By guest blogger Lana DenHarder  (Grand Rapids, Michigan)

Brian and I had been married for four years. Like most first-time parents we were excited to be expecting a baby and equally excited to have an ultrasound to learn the gender. We had spent weeks talking about names and imagining how the child would look, wondering what personality traits they would have, if they would get my clumsiness gene or Brian’s athletic abilities.

My first ultrasound was around nine weeks to verify dates, and I had another ultrasound around 16 weeks to learn the gender. We were pleased to learn we were having a boy. Brian’s visions of teaching the baby to play ball and coaching little league were starting to become a reality. Shortly after we learned we were having a boy we decided on the name, Cole Ryan.

My prenatal visits went along as planned. I jokingly told my doctor (whom I absolutely love) that I was disappointed that we didn’t get any good pictures of Cole at the first Coleultrasound and maybe I needed to have another. We both laughed! As my pregnancy moved along, around 30 weeks my doctor said that Cole was measuring small and maybe it was time for another ultrasound just to make sure we had the correct dates and that there was nothing wrong. I was thrilled because that meant I would have more pictures for his baby book. The ultrasound was scheduled a week or two later at our local hospital and I met Brian there…with a full bladder, as instructed. The tech took us back to the room and we were geeked to see Cole on the monitor. We asked goofy questions and the tech quietly answered them and then told us to wait and she would be right back. That should have been our first indication something was wrong. Ten minutes, twenty minutes, she didn’t return. Brian went out to try and find someone because my bladder was still full! The tech said we needed to wait in the room. Ten more minutes had passed and the tech returned with a doctor who looked at the monitor some more. He then said to get dressed and wait in the waiting room. Brian and I looked at each other oddly because after my previous ultrasound we didn’t need to wait around.

Waiting was torture. The doctor walked in and said he had spoken with the radiologist and they found a tuber on Cole’s heart. My heart sank. Brian and I were not expecting this at all. Ten minutes ago we were joking around and now our world was falling apart. That was the first time we heard the words Tuberous Sclerosis Complex (TSC). He told us we needed to follow up with our doctor in the morning. Brian and I walked out to our cars, a million things spinning around in our heads, hugged and said we would talk when we got home. I watched Brian pull away as I sat sobbing while trying to call my mom on the phone.

Our doctor referred us to a high risk OB to assess the situation. They confirmed that it was likely that Cole would have TSC but an official diagnosis had to wait until birth. I had weekly appointments and ultrasounds. At 37 weeks the doctors believed that the tuber was blocking blood flow to the heart and they needed to get Cole out. They tried to mentally prepare us for heart surgery within hours of birth. I was induced on September 4, 2006 (Labor Day that year) and Cole was immediately taken to the NICU. After additional scans, we learned that Cole also had tubers in his brain, too many to count. The next 25 days felt like months. Most nights I would go home and quietly cry myself to sleep, hoping that Brian wouldn’t notice.

Cole was touch and go for a while but didn’t need heart surgery after all. He developed complications and one night we almost lost him. I will never forget the day he turned grey. September 13th. Looking back, at the time we didn’t realize just how sick Cole was. The day before we were supposed to take Cole home he had his first shutter spell (seizure). He left the hospital on a seizure medication.

The first couple of months were normal, or as normal as we thought they would be as first-time parents. Cole was eating well and very snuggly, however he was starting to miss typical milestones. We started Early On Therapy, and eventually physical therapy, to help strengthen his core.  Cole started to have infantile spasms at 6 months and the day after his first birthday he had his first grand mal seizure. Within Cole’s first year we had tried various seizure meds and nothing worked. Our one last hope before trying ACTH was the Ketogenic Diet. Brian and I thought about it and it made sense to us. Cole wasn’t eating solid table foods yet, and he hadn’t developed a taste for bad foods that we would have to take away for the diet, so this seemed like a good time. Cole was admitted to the hospital and three days later he went home on the diet. Within a few months we noticed a reduction in his spasms and no more grand mals. He was on the diet for three years. In the end, we decided to stop the diet because he started to fall off the growth chart.

During a routine urology appointment, after the doctor preformed an ultrasound, he had to tell us that multiple tubers had started to grow on both of Cole’s kidneys. Cole was three years old. We are fortune to live in Grand Rapids, Michigan with a fantastic Children’s Hospital, Spectrum Health and DeVos Children’s Hospital. Up until this point, all of Cole’s care could be managed by various specialists locally. After learning of the kidney tubers, we contacted the Tuberous Sclerosis Alliance and asked for recommendations for a nephrologist. That is when we found Dr. Bissler at Cincinnati Children’s Hospital. We spoke with Dr. Bissler over the phone and made an appointment to get a second option on a care plan. Dr. Bissler was fantastic. He took the time to talk to us and make sure we understood all of the options. We agreed with Dr. Bissler and decided to move forward with kidney surgery to embolize the largest tubers. They were the size of golf balls. During Cole’s six month post op visit with Dr. Bissler, we discussed the benefits of Afinitor for Cole’s kidneys and SEGA. Dr. Bissler had also introduced us to Dr. Franz. Dr. Bissler discussed Cole’s history with Dr. Franz, and they both agreed that Cole could benefit from Afinitor. He started it in February 2011. We have noticed many positive changes in Cole, in addition to the kidney tubers shrinking and a slight decrease of the size of the SEGA.

In addition to the heart and kidney tubers, Cole has tubers on his eye and skin lesions.

Cole is considered globally delayed and is on the autism spectrum. He started attending a special needs preschool when he was two. Watching the bus drive away with my son was scary, but I realize that was one of the best decisions we have made. Cole’s development slowly improved. He learned to crawl when he was 2 1/2, walk when he was 3 ½ years old and his speech continues to improve. Today, he has close to 60 words and phrases. He currently attends a special needs school where he has fabulous teachers and support and continues to make positive strides.  I believe the Afinitor has helped him come out of the medical haze he was in and is allowing him to move forward with his development. We have noticed the biggest change in him in the last two years since starting Afinitor. He is making intentional eye contact, attempting to repeat new words, initiating play, self feeding, and demonstrating appropriate responses when asked to do simple tasks.

We often hear people comment and ask how we do it. There are definitely challenges to raising Cole, but he was our first child and we don’t know any different. In our minds, this is normal. We also have a three-year-old daughter, Lauren. Brian and I were tested and we do not have the TS gene. Lauren does not exhibit any characteristics of TS so we decided not to have her tested.  Our lives are full of doctors’ appointments, therapy sessions, sleepless nights, stress, worry and wonder. Cole has closed the gap on his physical challenges (walking) and now we struggle with behavioral (biting and scratching) and emotional issues. In spite of these challenges, Cole is a lovable, happy, determined 6 ½ year old little boy who loves to snuggle, sing (in his own way), spin balls, ride his bike, swing and run around the backyard. He is on three different seizures meds and is seizure free. It is difficult to look too far in to the future because we never know what will happen, but I can say that things are starting to calm down and feel a little normal.

Cole’s care continues to be managed locally and with the Cincinnati TS Clinic. We are very fortunate that Brian’s and my family live close and are willing to help with whatever we need. We definitely couldn’t do this alone. Cole is such a joy and we are very blessed to be his parents.

Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

The Strength of Family Through Three Diagnoses

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Day 2 of Blogging for TSC Awareness Month

By guest blogger Paula Krischel (Dwight, Illinois)                              

Paula with her husband and three sons, Mason, Joshua and Adin.
Paula with her husband and three sons, Mason, Joshua and Adin.

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.

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Parenting, Tuberous Sclerosis

How I Found Perspective

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My one-year-old son Connor and I were stalked the other day. It happened at Target as I pushed his umbrella stroller through the women’s clothing section. Our stalker darted from clothing rack to clothing rack, unaware that I was watching out of the corner of my eye. I’d estimate that she was about five, and I’m pretty sure the reason she was following us was because she wanted to know what the thing was on Connor’s head. I would have just told her, simply said, “Oh, it’s just a cranial remolding helmet for the plagiocephaly that has occurred in the posterior region of his skull. No biggie.” Okay, that’s not really the way I would say it to a five-year-old, but I felt like I would ruin her fun by acknowledging her presence.

Yes, Connor has a fancy, new, almost $3,000 hat. And that’s minus any bling. You’d think three grand would get you some rhinestones or something. Thus far it has not impeded his favorite activities, which include throwing everything on the floor and turning his bottle upside down and squeezing the nipple to fill his belly button with milk. Or this:

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Connor’s physical therapist had brought up the possibility of a helmet many, many months ago when the flattening of his skull was much more extreme. We were able to do a great deal of correction simply by positioning his head, but he was still left with some residual flatness as he neared the age of one, so his neurologist suggested moving forward. I wasn’t thrilled with the idea of a helmet, but accepted it. I made the appointment and took Connor for the fitting. There were pictures and sample helmets around the office. I actually found myself getting a little excited. Having to get the helmet wasn’t ideal, but I couldn’t believe how adorable some of them were. There were tons of designs to choose from, and I narrowed my top two down to one with airplanes and one with soccer balls. Then the orthotist returned and obliterated my adorable vision of Connor with airplanes circling his head. He felt very strongly that the clear plastic helmets were a better choice than the more popular styrofoam lined version that come covered in adorableness. Plastic ones were less likely to chafe the skin, they don’t absorb sweat so they don’t stink, they are easier to clean and you can see any skin irritation that may be occurring. They can also be vented by drilling holes in them. I nodded along in agreement and said things like, “Can’t argue with that.” But in my head I was cursing the stupid practical helmet, that for the same price, comes minus flaming soccer balls. How do you say, “I want the cute one,” after that? But stinky styrofoam? I could wash dishes with the sweat that pours from Connor’s head, so clear plastic it was. That wasn’t the only moment my stomach would drop during the appointment. To be honest, I went in having done no research. I’ve spent the last year reading so much about his genetic condition of tuberous sclerosis complex that I just wasn’t that worried about a helmet. I’d find out the details when I needed to know them. So I was not expecting to hear that he had to wear it 23 hours a day. I also wasn’t excited to hear that while treatment is usually three to six months, since Connor didn’t get his until he was a year old, his treatment would likely be closer to six months than three.

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Those were my only negative moments though. Do I love the helmet? Not so much. I hate that it makes his head sweat so much that the effects of a bath are destroyed ten minutes after I put it back on his head. I hate that my adorable child has to wear it 23 hours a day. Oh, he’s still adorable in it mind you, but no parent wants anything to prevent onlookers from having the full experience of perfection that is their child.

I think if the last year had been “normal,” this helmet would really bother me. They’ve become much more common since the “Back to Sleep” campaign to combat SIDS, since putting babies on their backs has caused a huge increase in plagiocephaly (which is far preferable to SIDS, obviously). Nonetheless, I think I’d take it off him every time he left the house or someone came over. But the last year has not been normal. Connor was born with tuberous sclerosis complex, which causes benign tumors to grow in the organs. Currently, only his brain is affected, but we’ve dealt with five weeks in the NICU, seizures, brain surgery, daily administration of several medications, multiple EEGs, MRIs, infantile spasms, gross motor delay and speech delay. He has physical therapy, speech therapy and music therapy. I could care less about a stupid helmet.

I want a life where I care about the helmet. I also want a life where the opthamologist assures me that the occasional crossing of his one eye is not a big deal, but if it gets worse, it can be corrected with glasses, and then I freak out about how I don’t want him to have glasses. But I don’t care about the glasses either. I don’t want to be the mom that impresses the doctor by taking glasses (and helmets) in stride because after everything else, they just don’t matter.  “A lot of parents ask if their kids can just have eye surgery instead,” the assistant told me. “They’d rather their kid have surgery than have to wear glasses. I guess TSC really gives you perspective.”

Perspective. I’m drowning in it, whether I like it or not. And it only took me 31 years to find it.

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Boston TSC Study, Ordinary Life, Parenting, Travel, Tuberous Sclerosis

Do you like apples? Connor went to Boston! How do you like them apples!?

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Connor's first airplane ride.
Connor’s first airplane ride.

We flew to Boston so Connor could take part in a TSC study through Boston Children’s Hospital and Harvard. It helps us by potentially identifying areas in which he might be showing delays so we can intervene, and in exchange we are helping the study identify early markers of how TSC might progress. Since there is such a wide variation in how TSC presents, from people leading competely normal lives to round the clock care and everything in between, the earlier doctors can identify who might go down certain paths, the better.

I was worried about flying with a baby. Ever since 9/11, I have had a decidedly contentious relationship with TSA. Apparently I resemble p. 33 of The Big Book of Terrorists. It’s gotten better since right after 9/11 when I was one of the randomly chosen few for the arbitrary secondary search at the gate (every. single. time), I guess because I so perfectly fulfilled the role of “white girl” in a politically correct collection of humans to pat down. So I’d be chilling with Asian Dad, Black Grandmother, Hispanic Mom, and various other people wearing t-shirts that said “Just Do It: Blow up the Plane.” TSA relaxed with me after a few years and mostly only chose to arbitrarily search my bag even though I had cleared security, finally prompting me to remove my bomb-shaped luggage tag and collection of Middle East flag patches meticulously sewn all over.

Who knew a baby would make it easier?! First, we got to bypass the security line in Atlanta. When we returned our Hertz rental car at Boston Logan, they drove us to the terminal instead of making us catch the bus. Then I got to bypass the full body scanner since I was holding him (I’ve successfully avoided these ever since implementation! Score! knock on wood). We got to board early.  Rather than making us choose peanuts, pretzels, or cookies, the flight attendant gave us two of everything. And finally, getting to enjoy that intense look of fear in passengers’ eyes when they see you. Pure awesomeness.

It was Connor’s first flight, and generally, he’s not a fussy baby, so we weren’t too worried. Naturally, as soon as we sat down on the plane, he whined and shrieked, until we got him to sleep. From there it was smooth sailing. On the flight back, we had a standard rough Delta landing which he loved. As we bounced and jerked, he laughed and laughed.

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We arrived Sunday night (oh no, I’m sorry. It was only 4:30, it just happened to look like night already) and went to pick up our rental car from Hertz. We were upgraded to a Hyundai Elantra. Don’t get me wrong, it’s a cute sporty little car, but the key word is still little. Were we getting a moped before? No complaints though. We had a great experience with them (see above about how they drive people with kids to the terminal). I’d detail our adventures of trying to navigate the big dig and poorly lit Boston roads with tiny street signs to the Holiday Inn, but I try to keep the four letter words to a minimum in the blog.

We finally found it though, only to discover they didn’t have our reservation. Apparently, the hotel made the reservation for the day they received the request from the study, not the dates we would be there. So we were a couple months late for our reservation. Fortunately they had plenty of rooms, with windows into the interior lobby, not to the outside. Deep breath. I will not freak out that I’m going to suffocate and die in here. The study ladies were unthrilled to hear that this occurred (seemingly not the first time) and we are being reimbursed for this as well. So we enjoyed a “not bad” hotel dinner, followed by some extremely questionable eggs benedict in the morning, and to the study we went.

What are these tiny pillows on a king bed?!!
What are these tiny pillows on a king bed?!!

Unfortunately Connor had one of his eye rolling episodes during breakfast which meant he was gonna be a little bit on the tired side. They started with the EEG net on his head, a very expensive and newer version that delightfully didn’t require the glue of the standard EEG. The computer tracked his eyes while a screen flashed pictures of shapes, me and a random woman.

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Then he sat on my lap at a table and they watched how he interacted with certain toys. He was given particular tasks to complete with objects, but at that point he had more eye rolls and it was sleep time. We had to cut the cognitive test short and do it based on parent report. The final part was an examination by the neurologist, who noted his slightly low tone, but otherwise thought he looked good. She was impressed that despite his surgery on the right frontal lobe, he showed no weakness on either side, which can occur.

All this took place in just under 2.5 hours and we had several hours to fill before catching our flight home. We decided to tour the campuses of our backup schools, Harvard and MIT. As we both got into our first choices, Chris into Marquette, and myself into the University of Georgia, fortunately neither of us were forced to go to these second rate institutions. Harvard does have a beautiful campus, although that does little to negate their horrendous academic reputation.

This is a Harvard snowman. I rest my case.
This is a Harvard snowman. I rest my case.

We received the assessment results within a couple days. Areas of concern: visual reception (have to look into this more, I think it means he wasn’t paying much attention to the screen with flashing pics-we’re hoping a factor in this was that he was quite tired and not really wanting to keep his head up to look at the screen), expressive language (already looking into speech therapy, since he can certainly be noisy, but isn’t yet making consonant sounds), and gross motor (already getting PT). Not really major surprises. Receptive language was a slighter delay, meaning while he seems to recognize some words, he doesn’t consistently respond to them. I definitely notice that when he’s in a good mood, he’s pretty responsive. If he’s tired or disinterested, he’s pretty good at ignoring me. Interestingly, his fine motor skills were right on target, something I already thought to be the case.

His 12 month follow up looks like it will be the last week of March. We’re extending this trip into a little family vacay. I look forward to building my positive relationship further with TSA. If they stop feeling me up permanently, maybe we can even be friends…

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Parenting, Tuberous Sclerosis

I do it when I feel like it, lady!

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Okay…yesterday’s post was a bit of a downer, so I thought I’d share some good stuff. First of all, thank you to everyone who reached out with stories to make me feel better about Connor. He decided to cheer us up the next day by being much more engaged with playing while sitting. I think a few things just came together in the last week that caused us to bum that night. One was that his physical therapist expressed concern that he’s not as engaged with his toys in a sitting position. Honestly, I’m not sure what to think about that. If he’s lying down or in his bouncy chair he’ll bang the suspended toys around for hours, so it’s not like he doesn’t play. Once a toy is in his hand while sitting he can develop a death grip that likely matches Charlton Heston’s around his gun collection. But he tends to need a little prodding to reach out and grab his toys when sitting up in a chair. That day we were upset, he was particularly disinterested in doing so. The next day he was far more cooperative.

Another piece to the puzzle was that Connor went in for a followup hearing test. His hearing is perfectly fine, but when they did the part that tests his cognitive response to sound, meaning checking to see if he would turn and seek the sources, he didn’t do so hot. He didn’t seem particularly interested in seeking out where the noises were originating from. The thing is, Connor never does as well with this stuff with people he doesn’t know well. I’m not saying he isn’t somewhat behind, but I think he does far better with us than in a testing situation with total strangers. I couldn’t help but notice that afternoon, when he tagged along with me to the salon, that his head was turning all the time. He was between two stations, and the blowdryer would come on to the right–TURN. My stylist starts to talk to his left–TURN.

Then this morning was very exciting. Connor has never showed a whole heck of a lot of interest in rolling over. This was of slightly less concern to me because I’ve had many people with chunky babies tell me their kids didn’t care to do so either. He has previously rolled over from front to back before, but him doing so required that his arms happen to be in an awkward position that lent to him doing it. He wasn’t repositioning his arms to make it happen. If they weren’t already where they need to be, he didn’t bother. This morning, when Chris went to get him out of the crib, he decided to put Connor on his stomach. Connor reached out with an arm bent at a 90 degree angle and pushed himself back over. Then he did it three more times! This is so exciting! He was truly making the effort to find a position to turn himself without waiting for us to position his arms for him.

So moods are elevated in the house again.

But this wouldn’t be my blog if I didn’t complain about something, so…that EEG paperwork? Still don’t have it. Today is day #4.

I’m very excited about a trip I’ll be making in February to Washington D.C. I’ll be tagging along with Wendi Scheck and some other ladies of the North Georgia TS Alliance for the annual March on Capitol Hill. We will be joining the headquarters of the TS Alliance, as well as people from all over the country to meet with senators and representatives and advocate for federal funding for TSC research. And mark your calendars, Atlanta peepz. The 2013 Step Forward for the Cure is taking place on Saturday May 18. We had a huge team last year, and everyone is welcome back again, as well as anyone new who would like to join us. There is no minimum to raise and I will post when the online sign up is ready. We raised over $6,000 last year!

For my readers who aren’t local, but are interested in taking part in a walk, here are the other walks (and other events) that have been scheduled thus far:

Jan. 26- Singing for a Cure at Paddy Whacks Pub, Philadelphia, PA

April 7-Comedy for a Cure at Lure, Hollywood, CA

April 27- Mountain Brook, AL Walk

April 27-Scottsdale, AZ Walk

May 4-Houston, TX Walk

May 18-Chicago, IL Walk

May 18-Atlanta, Ga Walk

May 18-Long Beach, CA Walk

June 1-Noblesville, IN Walk

June 22-Washington DC Walk

Oct. 5-Des Moines, IA Walk

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Parenting, Tuberous Sclerosis

What are all these baby torture devices?

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Connor has been on my case about not blogging for several days. He put me to work today.

I’ve never tried pilates, yet Connor possesses two pilates balls. In fact, if you inspect the portion of the house that contains his things (and by that, I mean every square inch of the house) you will see many strange looking items. This us because of his physical therapy that he receives via the state of Georgia’s Babies Can’t Wait program. Babies born with certain medical conditions that have the possibility of delaying their development automatically qualify for this program, regardless of the family income level. It means that a physical therapist comes to your home to make sure your child meets their development goals, and if they are behind, try to catch them up. Connor automatically qualified at birth due to having epilepsy caused by his TSC. Although he does have some slight motor delays from the pre-surgery seizures and five weeks in a NICU bed, she has no doubt he will do everything. Basically she comes in with new techniques to help him achieve each milestone more quickly than if left to his own devices, shows us what to do, and we continue the method on the days she doesn’t come. This has led to the proliferation of some weird things littering our living room, something my OCD husband has handled very well thus far. Some are on loan. Some we purchased. Others involved trips to Home Depot and some sweat equity.

An older shot of Connor and his therapist working on him keeping his head up for extended periods of time. This took him some time to master because of the seizures. Within a week of his surgery, he was killing this skill.

It’s a really good thing he mastered this head control thing because it meant tummy time went from this:

To this (with nose skin intact):

The therapist suggested having a mirror by him because it would motivate him and make him more aware. He absolutely lights up at the sight of himself. No self-esteem issues here.

Sherri, the therapist, has also helped us modify some of his toys so he could use them before he was quite ready. He couldn’t touch the floor in his jumperoo so we brought the floor to him, and because he was still building core strength, we rolled a blanket to place behind him to keep him steady.

We eventually had to create a more stable platform with phonebooks.

He no longer needs the modifications and now he looks like this, although he would like to point out that if I would remove his slippery socks he could do much better. Of course, it was pretty cute when he first started and looked like this.

We’re currently working on mastering sitting independently. He can for short periods of time, but needs to work on sitting a little more erectly. But he needs less and less support as time goes on.

First time in the Bumbo chair before surgery.

Sitting in his corner chair (on loan from therapist) because it requires him to do more work than the Bumbo.

The Boppy pillow also provides him support that will allow him to maintain a sitting position longer.

He finally started using a regular high chair on Thanksgiving.

This is one of our Home Depot projects. It’s a bolster we use to help him with crawling trechniques, and transitioning from crawling to sitting. Thanks to fancy, overpriced duct tape I was able to give it a race car theme.

And finally, here he is doing “pilates.” We’ve used two different sized balls to help him with head lifting, sitting, and leg reflexes. I also tried using it as a chair while watching Judge Judy. I have not pursued pilates beyond that.

There is still one corner in the house reserved for Mommy’s therapy:

We hope everyone had a fantastic Thanksgiving!

Parenting, Tuberous Sclerosis

This living one day at a time stuff is for the birds.

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It has been a nice little reprieve the last couple days not seeing any of the eye rolling incidents he’s been experiencing. But I’m not tempting you, Fate. No need to show me who is boss. I know not to celebrate good things. He could have one tomorrow or in 5 minutes, so don’t think I’m getting all cocky and thankful. I know that’s not allowed. Until the neurologist’s office called this morning to verify the  results of the EEG–no hips arrythmia and the only odd activity present is irritation from the surgery (what we already knew)–Chris and I hadn’t even acknowledged out loud the fact that we hadn’t seen any for two days. They remain a mystery until we can catch them on EEG. But the reality is that the EEG also shows a tendency to epilepsy because of the other tubers present. No seizures, just little outputs of activity as if to say, “Screw you. Did you think you’d wake up and TSC would just go away?” That’s TSC. It’s always there. You just don’t know what it will do. I totally understand those parents that enact vigilante justice when someone hurts their kid. If TSC could take human form, I’d stab it to death. Slowly. Only time will tell if epilepsy will be an ongoing battle for him.

The physical therapist came yesterday. Once again, she said he was looking really good. Very interactive, engaged, energetic and much more tolerant of being on his tummy. He’s adding more noises to his repetoire and playing with toys, all in the appropriate window of time…although he likes to push those windows to make Mommy nervous. She is thrilled, as am I, that we are weaning him off the phenobarbital. It’s pretty much the go-to seizure med for babies, but it’s a major suppressant of all activity, and longterm, is connected to cognitive issues. Connor often refuses to look his therapist in the face, even though he will make eye contact and giggle with us, because she is the mean lady that makes him work out for an hour straight. Mommy can be broken in less than hour easy. It’s kind of humorous to watch him swing his head back and forth as she tries to get him to engage with her. He’s not having it. She goes to the right, he goes to the left and vice versa. But she says this is good because he is distinguishing between people he likes and people he doesn’t. We’re really pushing him more to roll over. He can. He has. But he’d rather do this:

Where he started…
A few minutes go by…
Making a break for it!

A breakdown of his meds history:

When he came home we had to give meds 5x a day. It was hell. He was on:

Phenobarbital 2x per day 8am, 8 pm

keppra 2x per day — 8 am, 8 pm

dilantin 3x per day– 6am, 2 pm, 10 pm

I want you to seriously think about that schedule. Seriously imagine having to stop at all those times of day no matter where you are or if he’s sleepy to force him to take some crappy tasting medicine.

Then we weaned him off the dilantin.

He was only on phenobarb and keppra 2x per day for some time, but after surgery we never upped the dose again because we weren’t seeing anything.

Then the infantile spasms started, so we added Sabril (vigabatrin) and clonazepam. And now we are in the process of weaning off the phenobarb. So once we finish weaning, he will be on:

Keppra

clonazepam

Sabril

All two times a day thank God because I don’t think I can mentally handle more than that.

Ordinary Life, Parenting, Tuberous Sclerosis

Is Michael Myers in my house?

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We have an eruption. The tooth has made a slight appearance. It’s difficult to catch a glimpse of it though since Connor pretty much always either has his fingers in his mouth or his tongue sticking out. That part of the teething process is charming. Slightly less charming is the “I’m being chased in a darkened parking garage by an axe murderer” shriek he’s adopted over the last few days.  Up until then his new sounds had been grunting and growling, which the pediatrician said is typical of boys. The girls, she said, like to shriek. I’m all for equal opportunity and eliminating gender based stereotypes (except in cases of guys I’ve dated), but at 5 am I don’t want to hear the Halloween soundtrack coming out of his room. His appetite has also decreased significantly, but I’m pretty sure my 7-month-old who is wearing 12-18 month clothing is gonna be alright. Losing a little weight will probably help him with his motor skills anyway, since the physical therapist thinks his rapid weight gain is a factor in his slight motor delays.

I’d post a picture of the tooth, but at this point I’m afraid he’ll chew up my phone.

We have a feeling he might just bypass crawling since that doesn’t come easy to chunky babies and he is pretty strong when you put him in a standing position. Plus, his answer to tummy time is to conk out after a couple minutes because he doesn’t like to work. He’s like his mommy. You want me to do what? Yard work?…mommy crawls behind sweaters hanging in closet and passes out. He might actually just resort to doing the backstroke on land. Lately he’s been scootching himself  several inches up when lying on the changing table and in the crib. So frankly, he probably considers it silly to go to all the effort of turning himself over.

I spent about 3 hours sleeping on the floor with him this morning when his shrieking started up. I’ve done that quite a bit when he gets loud enough. He’s not crying, but proximity to one of us usually quietens him down. So it’s either one of us on the floor, or Chris on the couch and him in the bed with me. Bet the baby book writers would love that. Way to teach him how to get what he wants instead of just putting himself back to sleep. But since he sleeps pretty well most of the time, we don’t care, and they aren’t here to assist me when I stumble into a wall because I can barely open my eyes. I barely consult baby books anymore because the normal every day stuff doesn’t phase me now. So he may not have the perfect nap schedule or all those other details that fill 500 page books. He’s a happy baby.

Besides, he’s gonna provide the sound effects for the trick or treaters.

Ordinary Life, Parenting

Just because I wear the same costume over and over doesn’t mean I don’t like Halloween…

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Don’t think I don’t know what you’re thinking. Horrible mother! Horrible! Why is she doing that to him? Please. This kid was ticked that his pumpkin costume didn’t come with a machete. His only response to Creepy McPumpkinhead was to try and shove him in his mouth, presumably to keep company with the two teeth that are about to burst out of his gums Alien-style.

Connor also attended his first Halloween party yesterday, which was also the day of his 7-month birthday. It was thrown by my friend Claudia. Claudia is the reason Connor will eventually grow to resent me and think I’m totally lame because she loves to throw theme parties and has the inflatables rental place on speed dial. I’m gonna have to rent Cirque du Soleil for his birthday to compete. And the entire staff at Nickelodeon. Either that or we’ll just pretend he has the same birthday as her daughter Isabella and tell him the party is for him. Since it was a kids’ party, I was unable to wear the French maid costume I bought in, I don’t know, 2004? Fortunately, my mother keeps everything, so I wore my witch outfit from middle school instead. Look, I just prefer decorating my child and house to decorating myself.

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With Isabella at the party

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With Daddy at the party .                          My cats don’t cooperate, so I live through others…

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With “Uncle” Damien (costume got a little hot…)      With Ugly Betty

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Mommy found a cool wig for $5.99 the day AFTER the party….

Connor had physical therapy this morning and she continues to be very happy with him. We’ve been focusing on strengthening his core, but now we’re shifting to mobility by working with him in positions that will make sure he gets comfortable transitioning into crawling and standing positions. His independent sitting has improved since she saw him just last week.

And as I type this, I look down to see…

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I give up. I can’t keep anything on his feet.