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Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

For all we have lost, there are great treasures that remain.

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Day 29 of Blogging For TSC Awareness

by guest blogger Rebecca Thereault

For all we have lost, there are great treasures that remain.

image-12Tuberous Sclerosis Complex (TSC) hijacked our daughter’s genome. Like the lowliest of thieves, it stole from an innocent baby.  It’s haul?  A base pair on her TSC2 gene on her 16th chromosome, to be exact. Two tiny amino acids that shifted her genetic code and forever hindered her ability to suppress tumor growth in her body.  Funny thief–one that gives more than it takes.  What TSC took has caused tumors to grow in her heart, brain, skin, and kidneys; it has caused epilepsy, heart failure, autism, developmental delay, and more.  It’d be easy to hate such a thief and sometimes I do give in to the loathing. What I have learned, what Kaleigh has taught me in her 5 and a half years, is that for all we have lost, for all that TSC has taken, for every hurdle, for every burden, we have also gained.

Before I go any farther, I need to pause here and clarify my image-14dangerously close to sounding Pollyanna statement that I have gained things from TSC. TSC is a devastating, incurable (currently) disease.  I am not thankful for what it has done to our daughter. It has nearly taken her life on more than one occasion. AND, I have gained things as an individual, we have gained things as a family, that I and we would not have otherwise.  I could write about the seizures, the MRIs, the hospital stays, the therapies, the behaviors, the terror of it all, the need for more research, the scientific advances, or why this disease should matter to you. In some ways those issues are easier to articulate–there is a concreteness. But, when I think of what the presence of TSC in our lives has really meant and truly taught me, I think about the “and” of life. It is the idea that there is no darkness without light, no joy without pain, there are and must be both. Kaleigh and TSC are inexplicably entwined–it is literally weaved through the double helix of her DNA.  AND, she is not TSC.

image-13 I was 29 weeks pregnant when the ultrasound technician said she needed to call down a specialist because there was something wrong with our baby’s heart.  It was the first time we were introduced to TSC.  It was as though a vortex opened and sucked away all our hopes and dreams and left us empty and terrified.  Perspective, and time, have changed these memories for me. I see now the seedlings of “and.”  We were devastated and hopeful.  Terrified and determined.

At the time, it felt like a lie to even smile. I was stymied by the image-15darkness, the anger, the overwhelming devastation.  I told no one at my baby shower, only immediate family knew.  I spent the day opening presents for a child I was told may not survive.  I smiled for the camera as I checked my watch because I had to run back to the hospital to receive the second of two shots intended to develop her lungs and give her more of a fighting chance.  All I was able to focus on was the insincerity of my joy. Now I see this was my first introduction to the “and” of TSC. Both were true.  I was terrified and excited.  I was alone and simultaneously surrounded by love.  This would be our life with Kaleigh and TSC–the presence of two seemingly opposite experiences coexisting.

image-16Kaleigh was born pink and screaming, and it has been one wild ride since.  The overwhelming joy of taking her home matched with the horror of a PICU stay for heart failure.  Over the past five years, we’ve experienced innumerable times when we were faced with two seemingly opposite and incompatible experiences vying for our attention.  It was a struggle for me to find the joy amid so much pain.  What I found is that life is in the balance. It is in the “and.”  If I let my anger at TSC overcome me, then I am blinded to the appreciation, pride, and joy of seeing Kaleigh achieve and progress.  If I succumb to the stress and fall apart after she seizes for two hours straight, I miss her tiny waking first word of “uh-oh.”  If we accept that there is no cure, then we lose hope and the drive to keep raising funds and lobbying for research.

With TSC we have lost much of the simplicity of life, yet have gained a rich complexity.  We have gained the camaraderie of others who walk this journey with us.  My view of life has widened.  When I look at others, I think of the “and.”  I wonder what is behind the anger of that not-so-nice lady in the checkout at the grocery store and I try (some days are easier than others) to offer grace.  The “and” has reverberated through our family. Our son is quick to help other children and befriend those who are often excluded.  At the same time, he has spent many a night crying after nightmares of his sister seizing. My husband and I have worked to raise awareness and fundraise for TSC research.  And we have worried and lamented over the never-ending medical bills.  No where is the “and” more apparent than in Kaleigh.  Her love for life is as palpable as the heartbreaking panic she experiences at the mention of the word doctor.  She is loss and hope personified.

Joy and pain.  Love and hate. Jubilation and sadness.  Dependence and freedom. Trust and betrayal. Jealousy and contentment. Life and death. Fight and acquiescence. These are the lesson I have been gifted. Our life with TSC is heartbreaking and beautiful. Most of all it is a balance–what we have lost AND what we have gained.

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Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

Bailey

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Day 13 of Guest Blogging for TSC Awareness

by Becca Patterson  (Greenwood, Mississippi)

My name is Bailey and I am 5 years old. I was diagnosed with TSC when I started having seizures at 5 months. I’ve had almost every type of seizure there is but currently my seizures are under control.

I have tumors & tubers in my brain, small tumors in my kidneys, and every skin abnormality associated with TSC. I am non-verbal, physically and mentally delayed, and autistic.

I am also beautiful, silly, sweet, and a spit-fire. I am TSC.

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Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

Tuberous Sclerosis Complex Awareness Month – Joy

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Third Annual Blogging for TSC Awareness Month  Day 1

by guest blogger Ryan Kennedy  (Woodward, Iowa)

Joy

Who knew what this journey had in store?

I was going to be a father again.

My wife held a child within.image1

A healthy birth, everything looks great!

Joy!

Who saw this coming?

A heart murmur

A routine doctor’s visit

A heart tumor

Hope.

This can’t really be TSC. Can it?

More doctorsimage3

Neuro, nephro, cardio, genetics

My son has TSC.

Pain.

How bad will it be?

Infantile spasms

Sleepless nights

My son has autism.

Grief.

What does this mean?

He walks.

He laughs.

He smiles.

He has joy.

He gives me joy.

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Georgia, Medical Marijuana

Georgia Rally for In-State Cultivation of Medical Cannabis

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As I previously posted, Gov. Deal stripped HB1 of the growing option, leaving it as immunity only. There will be a rally at the Capitol tomorrow to demonstrate the support for in-state growing. Please attend to show your support.

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There are currently 17 medical conditions included in the bill. However, the Georgia Sheriffs’ Association and District Attorneys’ Association do not support the expansion to other diagnoses beyond epilepsy. Please contact your local sheriff and DA.

Hope to see you tomorrow!

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

My Roller Coaster Life

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Second Annual “Blogging for TSC Awareness Month” Day 21

by guest blogger Paula Krischel  (Dwight, Illinois)

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Living with Tuberous Sclerosis, and having children with Tuberous Sclerosis, is always a rollercoaster of the unknown. You never know when this disease is going to put a tailspin on our health.  The constant stress of dealing with insurance, therapy, school, doctors, sickness, testing — it all gets to you when you only have 24 hours in a day. That is not including everyday work that needs to be done around the house, bills to pay, events to get to, and the list goes on. It is a never ending battle to not show how badly this disease can affect how I feel.  The day must go on, and even though I am a stay-at-home mom, a lot is depending on me to make our every day routine run smoothly.

I realize nobody is safe from having symptoms from this disease.  That really hit me a couple years ago. I have lived with this disease symptom free for 42 years.  The only time there was any symptom was when I had seizures when I was little, but at that time there weren’t MRIs to diagnose Tuberous Sclerosis. I went years thinking I had childhood epilepsy that I outgrew at puberty.  As I get older, the hardest part is dealing with the emotional aspects of this disorder. I find my anxiety seems to get higher as I try to learn to juggle my health, my boys’ health, and all the obstacles that come with this disease. My kidneys have taken the biggest hit from this disorder.  I have to take a pill for the rest of my life that is considered to be a chemo drug that has all new symptoms that can happen to my health.  It is really hard to stay positive when you feel like crap inside. The hardest part is that people think you feel like crap because you’re overweight, which I am, but it really does not come to that. Of course losing weight could help me, but so much with this disease, there is no guarantee that will solve all of my problems.  I hear blood pressure, cholesterol, and all that good stuff will be better, but the fact is, my wonderful miracle drug that I have to take for my kidneys cause both of those to be bad. It is a struggle that I am still trying to learn to balance but with the fatigue, lower back pain, and symptoms nobody wants to really hear about, it is a daily problem to try and get better. I now have to take medicines I hate to take, but my family needs me so I take them.

10269590_10203152870534585_7703347996202116662_nThe best part of this disease — it has made my family stronger. NO ONE is not affected by this disease in our family.  My son Josh, does not get to always have a normal childhood because his brothers got sick, had a seizure, or are just off from their autism. Most children are privileged to have both parents go to award banquets, sporting events, and school plays. Not our family. Most days we have to take turns going so one parent can stay home for our other two boys that have Tuberous Sclerosis as well. My husband works very hard to take care of our family and to help out as much as possible when I am having bad days. He truly is my rock, my best friend, and my soul mate.  He does not judge me; he gives me time to spend with friends and helps as much as he can with the boys.  This disorder has put us in many different stressful situations, but with our faith, we always seem to conquer the obstacles one by one.

The most important part I have to remember is to always take a proactive look at my health so I can be there for my boys. Please, to all of you adults out there, be proactive. You never know when you will have a new problem with TS. At one point I was really having bad back pains. I found out my tumors growing in my kidneys were causing the pain. Always listen to what your body is telling you and get things checked out. I had to start Afinitor immediately so I could avoid surgery.  To me that is my best option because I still need to take care of my family.  I may feel like I am an 80-year-old lady at times,  but with my husband by my side, I know I can push through anything. He is my best supporter, along with my 15-year-old son who would give up anything if it meant helping his momma out. I am a very lucky woman, to have such a wonderful family.  I also have some amazing friends that get me out of the house when I just need a break from the hustle and bustle of everyday life. It is also wonderful to live in small town America, with a population of 4200 people.  Everyone knows our children through school, church, and being out in the community, and I know they have our backs if our children are ever in need.  It took me a long time to accept this disorder, but now I am determined to do everything I can to live a long healthy life.  It is important to be here for my family.

Another important thing to do as an adult with TS is find some kind of support. I know not every family member can understand how you feel, friends don’t always understand, and people can feel alone. I found solace in getting to really know some wonderful women and men on the Tuberous Sclerosis Facebook pages. NO ONE is affected exactly the same with this disease, but there are enough similarities that you can get ideas to ask your professionals to see if it may help you or your loved ones. These people live our life, they pray for you, give you encouraging advice, and can make the healing process bearable as we fight on for a cure. I feel very rich by the friendships I have made, and I am ready to help those who are just learning about this disease. I will give EVERYTHING, but UP!!  I will trust in God, trust my doctors, and trust my family to be by my side as I battle this incurable disease and battle to be the best I can be. Thank you for listening.

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Read more about Paula’s family in her guest post for last year’s Blogging for Awareness.

Please also check out her son Josh’s contribution last year from the perspective of teen with an affected mom and siblings.

 

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

Life With TSC & Autism — Trystan’s Story

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Second Annual “Blogging for TSC Awareness Month” Day 11

by guest blogger Marie James   (Carmarthenshire, Wales, UK)

8031 1 TrystanTrystan is 27 years old and lives with Perry and Marie, his mam and dad, in Carmarthenshire, Wales, UK.

First written in 2008 for the Tuberous Sclerosis Association (UK) SCAN Magazine and updated for May 2014 TSC Awareness month in the USA and Awareness week of 12th – 19th May in the UK.

Because of the difficulty Trystan has in understanding the world around him we often live life as if treading on eggshells. Since he was a baby we have taken each day, one at a time…

Back in 1987 when Trystan, our youngest son, was only 8 months old we learned that he had TSC.

For him, like many others, it means a life of dealing with the effects of tumours in his brain, heart, IMG_2779kidneys and on his skin, unpredictable multiple types of seizures, learning disabilities, hypertension, osteoporosis and complex autism.

It was in 1995, when he was nearly 8 years old, that Trystan was diagnosed as having complex autism, and the whole family were able to sigh with relief. For us, the diagnosis meant some understanding towards making sense of a range of rather unusual behaviours. These included a constant need for reassurance; the fear, fascination and obsessional relationship; and the difficulties that changing activities can cause, e.g. refusing to get into the bath and once in the water, often refusing to come out.

The additional label of autism was also the key to unlocking access to educational provision that we were seeking at that time, to help address some of Trystan’s fundamental communication and social needs.

Trystan has limited verbal communication and an avoidance of social interaction. When in a group he isolates himself and appears to spend most of his time pre-occupied with his own ritualistic interests and obsessions.

All it takes to trigger obsessional episodes is a clip of an old home video which prompts a need for a long forgotten toy or an advert on television. Trystan has had inconsolable compulsions to acquire such things as tinned cat food – just for the label, as you may have already guessed, we have no cat.

Over the years he has had a wide range of obsessional interests. Some of these developing from an initial fear phobia and fascination phase to a full blown all consuming obsession. For example, from the terror and panic caused if a fly enters a room, to being absolutely engrossed with catching and observing flies in a plastic pot. The desensitising programmes used for this fly phobia start in April of each year when the flies first appear and usually have some effect by September time when flies tend to disappear. With no exposure to flies over the winter months by each April, we are back to stage one, every year! Nevertheless, we persevere.

On occasions, flooding Trystan with exposure to seemingly all consuming obsessions has enabled him to develop some of these obsessions into healthy interests.

Years ago, if Trystan spotted a Mini car whilst out and about on one of our many ‘diesel therapy’ trips, he would insist that we pursue the Mini for a number of miles. As a result of his interest in Mini cars Trystan was motivated to learn more about them, giving us the opportunity to help teach him colours, numbers and letters (from number plates) and even different car models. A trip to a two day Mini exhibition at the NEC in Birmingham in the mid 90’s did the trick as regards flooding him with seeing Minis. Since then he has been contented to observe, pass and thankfully, not pursue.

Whilst most major obsessions have, with a little patience and different resolutions, been turned into such interests, unfortunately not all of Trystan’s obsessions have been as educational, or as easy to resolve. The constant repetitive rewinding of little clips of his favoured videos have left us close to becoming demented on many, many occasions.

Trystan JamesCollecting new clocks or watches is a long term favoured passion with, by now, over 300 accumulated. Random alarms and timers go off during all hours of the day and night, making us jump into immediate search mode to find and switch off the offending timepiece. Trystan is absolutely fascinated by each and every one of his clocks, the sounds, setting the time, the moving hands and the mechanisms. Despite this interest he is unable to tell the time; apart from when it’s three thirty. (His school day finished at this time and Trystan on occasions would turn his class clock forward in the expectation of his taxi arriving to take him home.) With all these clocks in the house, needless to say, that British Summer Time hour changing causes considerable confusion when resetting the clocks in our household.

Slotting is another long term obsession. During visits to the seaside, the sand and sea hold little interest for Trystan; he has his radar on full alert for the amusement arcades and their coin slots. He has an impressive collection of money boxes and we are adept at improvising all sorts of containers into coin slotting boxes.

Many contented hours are spent on slotting money, clock watching and his game consoles. Trystan’s bag always contains a variety of these items to enable him to tolerate environments he would otherwise find really difficult when out and about.

Music has always been a source of pleasure and joy for Trystan. He acquired language skills from imitating the tone and pitch of songs. When he was 9 he started 1:1 dancing lessons, with music as the enticing motivation. He has achieved many grade medals for his versions of traditional dance routines. Best of all, from this stems his enthusiasm and enjoyment on the dance floor at any disco, often regardless of the number of people there. Whilst Trystan enjoys others singing and dancing in his company, his dad and I are restricted from doing so; one look from him will usually stop us in our tracks to avoid knowingly upsetting him…. and to Trystan, finger tapping on the wheel of the car whilst cruising and listening to music, constitutes as dancing!

Recognition of his accomplishments is relished by Trystan. He constantly seeks assurances that he and all around are okay. A variety of visual prompts are used to reinforce spoken language to try and help him understand and make sense of what is happening around him.

Trystan labels objects of interest in a way that is logical to him — it is such a huge relief when we are able to figure out the connections that he makes, e.g. asking for the ‘Daily Mirror’ is his way of saying he wants to play ‘Who Wants to be a Millionaire’ simply because the Daily Mirror Newspaper ran adverts during the TV show in the late 90’s. Life is never boring. Trystan certainly keeps us on our toes.

Any, or indeed all, changes in activities can potentially pose problems for Trystan. In reality that means that from the moment he wakes to getting him intoIMG_2850 bed and then off to sleep we are constantly assessing his behaviour. Occasionally the bigger changes seem, on the surface, to be accepted without difficulties. We moved into our current home four years ago and Trystan seems as happy here as he was in our old home, however since the day we moved he has become anxious every time he leaves the house believing he is going back to our former home. We avoid mentioning the word ‘home’ altogether as it triggers anxieties. Although Trystan has some language skills, it is quite limited and much of his communication is by means of us being aware of his body language. Particularly when trying to gauge how well he understands what is happening around him. This helps us assess how he may react to changes in daily activities, such as getting washed and dressed, having breakfast and taking his medication, and what may be planned, for the day. I say may be planned, as Trystan is, almost without exception, in control of that!

Since leaving school Trystan has a highly individualized person centred package of support. His part time support workers provided 2:1 community and home based assistance and he is enabled to choose what he wishes to do each day. His weekly programme when he concedes to go out into the community includes visits to a local theme park, swimming, exercise gym, bowling, archery, amusement arcades, a host of local beaches and waterfront walks, local woodland parks and an outreach service option from the National Autistic Society’s Neath Day Service.

To make life easier for Trystan, we carefully plan and think ahead on how we present all changes to him and are constantly aware of not saying the word no, or be negative in any way. Even with almost three decades of experience under our belts and despite all our best laid plans, we still manage on occasions, to get it very wrong.

Of course another way of looking at Trystan’s unpredictable and unusual behaviour is the fact that with the TSC, the learning disability, the epilepsy, the mix of anticonvulsants, other significant health difficulties and the complexities of his autism, it is actually quite remarkable that he is able to function and enjoy life as he does. Whilst we pursue every opportunity for Trystan to have new experiences, long gone are the days when we strived to make him conform. The whole family is extremely proud of him, just the way he is and we rejoice in all his achievements.

When Trystan was diagnosed we consider ourselves fortunate that we made immediate contact with the TSA in the UK & learnt of their Research Fund. Raising awareness and funds for the TS Association and getting involved in Research projects whenever possible has proved to be therapeutic & gave us much needed hope for the future.
Remarkable Scientific Developments in TSC Research has been achieved over the past three decades & much of that on our very doorstep at the Institute of Medical Genetics in Cardiff (Wales, UK), by Prof. Julian Sampson and his team. We now, for some of the symptoms, have emerging treatment options; the work on ultimately finding a cure for those yet to be born with TSC is ongoing.

Meeting and sharing information & stories with others who lives are affected by TSC is a great privilege, with lifelong friendships gained.
Thank you to Becky for the invite to blog and to you for your interest in reading. Marie James 🙂

For more information on the TSA in the UK, please click on the links below:

http://www.tuberous-sclerosis.org/

https://www.facebook.com/thetsauk

https://twitter.com/UKTSA

http://www.youtube.com/user/TSAssociationUK 

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

We are our version of “picture perfect.”

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Second Annual “Blogging for TSC Awareness Month” Day 5

by guest blogger Shannon Grandia  (Riverside, California)

My name is Shannon Grandia and my three children and husband have all been diagnosed with Tuberous Sclerosis Complex.  Rob and I were high school sweethearts with this “picture perfect” ideal of how our life would turn out.  Rob, my husband, had no idea he had the disorder until our first two born began having seizures and were diagnosed with TSC. When Rylee was born she was this perfect, beautiful baby girl and the picture Rob and I had painted for our life seemed to be coming true.   Over her first year of life Rylee was having these abnormal staring spells that her pediatrician was writing off as normal infant behavior.  At 18 months Rylee’s staring spells were lasting minutes instead of seconds and she was now salivating.  This is when her seizures spiraled out of control and she was hospitalized and diagnosed with Tuberous Sclerosis Complex.  At the time we had never heard of the disorder and had no idea what to expect. She had numerous calcifications covering her brain along with one distinct growth, ash leaf spots on her skin and focal seizures. Doctors told us best case scenario is that she did not develop any more growths and she could live a normal life on medication to control her seizures; worst case scenario could ultimately lead to death. Our “picture perfect life” was beginning to unravel.  Because at the time neither Rob nor I exhibited any signs of the disorder we were told that is was a “sporadic mutation” and unlikely any other children we had would have the disorder.  I was about six weeks pregnant at the time of Rylee’s diagnosis, but ultimately lost the baby at 12 weeks.  This put a strong desire in Rob and I to have another child and since we were told it was not genetic, we felt confident that there would be no complications with another child.

Jake was born two and a half years later. At birth he was a happy, thriving baby boy. Doctors told us it was unlikely he would have TSC, but they would monitor him when we brought Rylee in for her appointments.  At a few months old we noticed a couple white spots on his skin, but doctors told us it was a coincidence and he wasn’t showing any other signs of TSC. I am not sure how long we ignored the small staring spells Jake was having, writing them off as normal infant behavior once again but at 11 months old Jake was having a seizure every half hour and had to be admitted to the hospital and was soon diagnosed with Tuberous Sclerosis Complex as well.  He too had the ash leaf spots, three distinct growths in his brain and was having focal and complex partial seizures.  This was devastating news and our “picture perfect” life was crashing in around us.

Two children with TSC was a sign that either Rob or I had the disorder. After genetic testing it was determined that Rob had the TSC1 gene that was passed onto the children, his dad and brother were also tested and found to have the disorder. We did a lot of research and discovered there was a 50% chance of passing the disorder onto a child. A year went by and life was manageable.  Both Rylee and Jake were hitting their developmental milestones, medication was controlling the seizures and it seemed both had a more mild case of TSC. We felt confident that if we had a third child, he or she would be TSC free. We also wanted our kids to know that we loved them so much and we did not want to let TSC guide the decisions for our life.  Looking back this may have been a naïve perspective, yet it gave us Luke, and we would not change that for the world.

We did an amniocentesis with Luke to determine if he had TSC before he was born. Words cannot express the feelings that ran through me when we got the call that our unborn child also had TSC. Because of the diagnosis we did further testing and also knew he had tubers in his heart before he was born.  Luke came into the world three weeks ahead of schedule and spent the first two weeks of life in the NICU monitoring SVT’s of his heart. Luke spent more days in the hospital than out his first year of life. At one point he was having over 80 seizures a day and was close to comatose. He also had chronic pneumonia, RSV twice, asthma and further heart issues. Then at two and a half he was hospitalized for liver and kidney failure along with Pneumonia and the H1N1. This was the closest we came to losing Luke and he spent almost three weeks in the PICU at Loma Linda. This hospitalization also revealed that Luke was aspirating with fluids and he got a GI tube for fluids only.  Was this really my life?

Luke’s complications were some of the most difficult and darkest days. With the focus on Luke, Jake’s behavior began to decline dramatically.  At three years old he was no longer hitting developmental milestones, and was actually beginning to decline.  Behaviorally, Jake was throwing constant tantrums and was extremely aggressive being asked to leave the private preschool we had him in at the time.  Rylee was also having a difficult time during this period.  She was struggling academically, had weight gain from seizure medications and ADHD.  All three of our babies were fighting and I will be forever amazed how their strength brought them and us through those rough days. This was a long ways away from the “picture perfect” life Rob and I had dreamed about.

We have now lived with Tuberous Sclerosis Complex for over 11 years.  Rylee is 13 years old and thriving. She is the least affected and is on the road to leading a long “normal” life.  Rylee still takes medication for seizures and ADHD, and school is not easy.  But Rylee is learning how to be a good student and stay focused.  She is also a good athlete, playing softball for the last 4 1/2 years and now playing club volleyball.  Mostly, Rylee is known for her bright smile, positive attitude, and love of life.  She is an incredible help with her brothers and has a heart of compassion that teaches us daily how to be a better person.  Jake is now 10 years old and has a diagnosis of intellectual delay and autism.  He too still battles seizures, but they are controlled the majority of the time by medication.  He also takes a concoction of medication for behavior.  Jake has recently moved to a severe autism class, in the hopes that we can get better control of his behavior.  The key with Jake is consistency and routine, which is actually good for us all.  He as an ABA, one-on-one aid with him in class and an outside agency now evaluates and helps with intervention weekly. It has been a rough couple years.  Luke is a 1st grader (in a more severe Special Day Class).  He is the healthiest he has been since birth.  We have never been able to get his seizures controlled, but at an average of five a day, he is on the most effective combination of medication so far and has begun the Modified Atkins Diet.  Also, the G-tube and not drinking fluids has kept the Pneumonia away and he has had a nice stretch of staying out of the hospital.  Because of his medical issues, Luke has an LVN that stays with him throughout the day.  Originally, we were told he may never walk, talk, or even live past the first few years of life.  Not only has he defied all the odds, but cognitively is trying to catch up and shocking everyone.  At 7 years old, Luke is saying more words everyday, can now ride a tricycle, can follow routine rules in the classroom and on the playground and makes anyone who comes in contact with him immediately fall in love with those bright, blue eyes and huge grin.

Rob and I take one day at a time and have no idea what the future holds for our children, but it makes for an interesting journey.  We have learned to celebrate the little things in life, trust God has a plan for us and our three children, lean on each other and those around us when we need strength, and see the daily blessings our children give us.  TSC is a horrible disorder, but it does not define who we are. Rob and Rylee are both considered mild, Jake is moderate and Luke is classified as severe.  We pray daily for a cure and that the seizures and complications will miraculously disappear.  But we also are so thankful for our three miracles, the difference they are making in this world and the joy they bring.  You will not meet three happier kids that appreciate life and each other more.  Watching them together is a beautiful thing and they teach us daily how to be better.  Over the years our idea of “picture perfect” has changed and our we are our version of “Picture Perfect.”

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Tuberous Sclerosis

Gearing up for TSC Awareness Month

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Three therapists so far are kind of “meh” on the autism diagnosis. They recognize the “quirks” he has, but don’t particularly think of him as autistic. The diagnosis opens the door to more help, but it’s comforting to see a look of surprise from people who know him so well. It’s a tricky thing, the secondary diagnosis, when there are so many potential causes of issues. He’s social this boy. He may chew on your pants, but he’ll look you in the eye when he’s done.

Chris and I have decided to raise money towards this year’s TSC walk by selling awareness t-shirts. We initially thought about team shirts but decided a general awareness shirt would have a bigger reach. If you don’t want a t-shirt, you can donate directly to the walk at the link at the top of the page. But if you’d like a shirt from which a portion of the proceeds benefit the TS Alliance, go here. At the moment I am posting this the shirts are unisex, but I hope to have a woman’s cut available soon.

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Next month is TSC Awareness Month and I plan to do a month of daily guest posts from other people living and dealing with TSC. Last year was a huge success and there is a tab at the top of the page to check out last year’s submissions.

If you would like to share your TSC story this year, I need you to e-mail me the following at pin.the.map@gmail.com:

*Your general story or you can focus on a particular issue you have had to deal with (e.g. advocating in schools, a surgery, balancing family, LAM). I don’t make rules on length. Your story is your story. I’m also open to creative entries, such as inspirational poetry. I cut and paste to the blog so a word doc or just the body of an e-mail is fine.

*city and state or country (I would really love to have more countries represented this year!)

*1-4 pictures

*if you have an awareness page, blog or fundraising page, I will share the link

Hope to hear from you!

 

Boston TSC Study, Tuberous Sclerosis

A New Diagnosis

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When I fill out medical forms that ask me for Connor’s diagnoses, I write tuberous sclerosis complex, epilepsy and developmental delay. As of Friday, I will now write autism

When Connor was first diagnosed and we read all the possibilities that could possibly come with TSC, autism terrified me the most. I really didn’t understand it. I’d worked with kids with varying degrees of autism in the classroom, some of whom I was not remotely equipped or provided the training to work with and others that were favorites of mine. But I was terrified of the word. I thought that if the day came that we received that diagnosis, I would jump out of a window.

Two years changes a lot.

I can’t say it came as a total surprise. I refer to some of Connor’s behaviors as “quirks.” I guess I was just hoping they could stay “quirks” and not become a diagnosis.

We went to Boston for his two-year visit with the TSC study. It was a low key visit since Chris and I had both caught Connor’s cold from the week before and were not particularly energetic (and why I didn’t get in touch, Ann–we’ll be back next Feb!). We also had an appointment with the Boston TSC Clinic. Even though I suspected deep down that this day was coming, I didn’t actually realize it would be Friday. The study had sent his results from the autism scale given the day before to the doctor. The words “Connor has autism” were never actually spoken. We were discussing some of his behaviors and suddenly we were talking about therapy options in addition to what he already receives. An education specialist was brought in so she could help us find local resources and I found myself saying, “So this is it? Is this an official diagnosis?” It was. But the sooner the better and we now move forward.

We also finally got a little more detail on his MRI. It wasn’t as specific as I was hoping for, but we do now know his brain has somewhere around 20-30 tubers, probably closer to 20. They are scattered throughout. I thought he had two SENs in the ventricles of the brain, but he actually has three. However, they are so small that they are nowhere near being classified as a SEGA (which can block fluid in the brain and require either surgical intervention or use of Afinitor or Rapamune) and therefore aren’t currently an issue (and hopefully never will be).

I’m sad that we only have one visit left with the Boston study. I really enjoy going up there. I think I could actually live in that city in spite of the cold and that says A LOT. I was really touched by the fact that while we were there, non-stop coverage was being given to the deaths of two firefighters and who they were. It gave the city a close knit feeling and reflected a genuine interest in the loss of two heroes. It’s not something I’ve ever seen in the 20+ years I’ve been in Atlanta, where we just get the 6 p.m. death count.

These are the only photos I took which tells you how off I was this trip.

First big boy flight with his own seat. On the way back we were told we couldn't use this seat because it wasn't airline compliant. Gotta love consistency.
First big boy flight with his own seat. On the way back we were told we couldn’t use this seat because it wasn’t airline compliant. Gotta love consistency.

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Connor loved the noisy geese.
Connor loved the noisy geese.
Current Events, Medical Marijuana

HB885 — the Georgia medical cannabis bill — died tonight.

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And when it died, this is what it looked like.

1461321_10203535527814157_581029929_n-1Glad I couldn’t make it down there today. I wouldn’t have wanted to watch this celebration in person. I’m so sorry for those parents that did have to see it live. A  live stream was more than enough for me. I cannot begin to express the countless hours, time and money (parking, travel, childcare) that these parents put into this. Representative Allen Peake did everything he could and for that we are thankful.

Short version — most of which I stole from someone on Facebook — because I’m tired, ticked off and feeling a migraine coming on:

The Senate refused to pass HB 885 unless an autism insurance bill was attached because the House refuses to vote on the autism bill alone. Senate passed HB885 with the autism bill attached, then sent to the House who refused to vote on it with the attached autism bill. 

Then late tonight, with HB 885 stalled in the House, the House sent SB291 (already passed in the Senate and unrelated to HB 885) to the Senate for a vote with the HB 885 language included. Senate refused to vote on SB 291 because it did not have the desired autism language.

And with that, the state of Georgia made it clear that it does not care about kids whether they have epilepsy or autism. But they do care about their end of the night paper party!

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