Tag Archives: Health

This year we celebrate 40 years of TS Alliance’s existence.

Second Annual “Blogging for TSC Awareness Month” Day 32

by guest blogger Susan McBrine  (Oregon)

photo 1Tuberous Sclerosis.
Words a parent never wants to hear… Or expects to hear. Yet every day, all over the world, parents are still getting this diagnosis for their child, who may be experiencing seizures, developmental delay, autism, kidney and brain tumors and more .

I got this diagnosis  for my daughter over 40 years ago and I must say it changed my life forever. I  became an informed, determined, assertive researcher, educator and advocate for making sure that I knew and found all there was  to know and do to help her achieve  her potential. In the process I helped found Tuberous Sclerosis Alliance and tried to help many other famiilies find hope for better treatments and a better life for their children with this disease .

This year we celebrate 40 years of TS Alliance’s existence. The organization has acomplished so much by advocating for and funding research, supporting families and much more. We celebrate, but I am  also saddened that many other young moms are also still going through what I did to get treatment and diagnosis. I am saddened that tuberous sclerosis exists. Yet, as a mom who has raised a child to adulthood and lost her  child to this disease, I am grateful for what tuberous sclerosis taught me about life, love and even her death.

Being a parent of a special needs child is life changing in so many ways, but in my case it changed my career and my perspective on life in general. It made me appreciate little things and focus on what is really important in life.

It also taught me valuable lessons on letting go of a child as she grew.  I learned to finally let go and let my disabled daughter have more of life of her own, despite her disabilities. It is very hard, when you miss those developmental milestones that non disabled kids have — when your child  goes to kindergarten,  off to college, work, marriage — to know when and how much to let go and encourage independence in a child who is basically totally or semi- dependent on you. The need to protect our vulnerable child is great and the tendency to overprotect always exists.

It was hard to step back and stop doing for her and let her do for herself. Dressing herself, going on the bus alone, spending the night away from me at a camp, having a boyfriend, and finally living in a group home with friends. All things other kids may do as they grow up, but for moms like us, whose child needs supervison and support in so many ways, it is  hard to let go even a little.

Letting go and teaching independence is important so that we don’t actually encourage dependence without realizing it.

Teaching age appropriate behavior to a 20-year old who would just as soon wear Mickey Mouse t-shirts and play with toys, that she is a young adult and must dress and be treated as a young adult is hard. I learned how, with help from many in her life, and from her.

I also was pleasantly surprised by how well she adapted to life in a group home at age 27. I thought she’d miss me so much I’d have to bring her home in a week. Nope! She flourished with her newfound independence and social life with her housemates — something I couldn’t give her at home with just the two of us. I also couldn’t continue to give her 24-hour care while I had to work and sleep. She got fresh caretakers every eight hours who weren’t tired, cranky or had other things to do.

What is hard for parents to admit as we get older (and we will) — the 24-hour care taking can be too hard without help. And the time will come when we can’t do it any more  due to our age or illness.

We have to really be realistic about helping our child find a place in the world as an adult without us while we are still around to help them transition. It’s harder if we die and they experience the grief of missing us and have to transition to a new home. That is the letting go and the transition we all worry about the most. We worry no one else will care for her or him as we do.

As a special education teacher of young adults 16 -22, I often heard parents say, “She can’t or won’t do that at home. How did you get her to do that?”  Some photo 2of my students had very low ability, but were able to work with some support and could learn to do things like cook, load dishwashers and do laundry for themselves. Things their parents didn’t let them do because they thought they couldn’t. It’s always amazing what they can do when we let go. I learned that my very  delayed and disabled daughter could do so much more than I ever thought or would have allowed her to do until I learned to let go some!

Every child is different and every state and family has different resources available, but it is something to think about for every parent.

Teaching independence and letting go is something to do gradually. After all, we all want all of our children to be happy, have a social life of some kind, to experience love and friendship, and to be able to support themselves in some way. They can’t do that if we dont teach independence  and responsibility to all our children.

Stacia taught me much in life. Tolerance, patience, unconditional love, selflessness and how to see the world through her eyes. Her life was a gift to me in so many ways, although battling her disease was also hell in so many ways.

I am grateful for the support the TS Alliance gives parents today, and for the hope that all our children with disabilities will have better lives to live and increased opportunities to do so in today’s world. We can all help them by increasing awareness of  not only TSC, but of all those with disabilities and their need for acceptance, employment, education and a place in society.

Please see Susan’s contribution from last year’s blogging event about the founding of the TS Alliance.

From Becky (Mixed Up Mommy): Thank you so much to everyone who contributed this year! It has been a pleasure to share your stories and read your personal or your child’s triumphs. I leave you with some artistic contributions from TSC warriors.

Chloe, age 5, Georgia
Chloe, age 5.
Bladen, 7.
Bladen, age 7.
Bladen, 7.
Bladen, 7.
Zander, age 7.
Zander, age 7.
Erica, age 19.
Erica, age 19.
Erica, age 19.
Erica, age 19.
Fiona, age 6.
Fiona, age 6.
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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!

I agree to jump through your hoops. Can’t you just agree to just hold them steady?

I had the most ridiculous morning Friday thanks to the Georgia Department of Human Services. I am unconvinced they know the definition of either “human” or “service.”

It started Thursday evening. I received an automated phone call from them informing me that they had tried to mail me something on behalf of Connor, but it had been returned to them due to an incorrect address. Since it must relate to one of the programs Connor has qualified for, either Katie Beckett or HIPP, this concerns me. We’ve changed our address with them, but whatever, right? I was given two numbers to call the next day — as it was after seven (thanks for making me worry when it’s too late to do anything) — a local and a toll free.

Friday morning around 8:30 I attempt to call the local number. Call fails, so I call the toll free number. I spend seven minutes, according to my phone log, trying to navigate the automated system to get a person. I end up trapped in a dead end when I make a selection for which I don’t have the information to input that they want. So I hang up and call again. I try hitting anything to get a person. After I slam my phone down still connected, Chris takes it and successfully gets a person on the line who informs him that she can see us in the system, but she doesn’t know what was mailed. She gives us another number to call.

I call it. Then I spend almost 45 MINUTES on hold. In the time I wait, I give Connor breakfast, get dressed and carry my phone and Connor’s KB Medicaid card around the house with me in case they need his Medicaid number. When she finally picks up, I realize I’ve left the card somewhere and I have no idea where. She’s asking for his social or some other number. I am already about to lose it, so I’m shrieking, “Shit! I had it the whole 45 minutes I was on hold and now it’s gone!”

She keeps telling me to give her some other identification number I don’t have, so I run up to Chris to get Connor’s social security number that I so desperately need to memorize, but agencies like this have left no room in my brain to keep it, and I give it to her. She keeps asking me for some other number and I tell her I don’t know what she’s talking about. At this point Chris takes the phone and goes off. He basically has to tell her to shut up and listen and use the social security number. A total of 49 minutes was spent only to be told, again, that she can’t see what was mailed to us either. Call your local agency.

By now, I’m late taking Connor to music therapy and about to have an angry, ugly cry meltdown because my morning has been ruined, my happy baby trying to get my attention to no avail, all so I can return a phone call to an inept agency when I don’t even know if it actually matters or is important.

Well, we’ve been getting our monthly HIPP checks with no issue. And I sent in all the paperwork for Connor’s Katie Beckett renewal last week. KB is the only thing up in the air, so in order to save my sanity, Chris makes the call to our local agency and to Connor’s caseworker leaving a voicemail to find out if she has received the paperwork and if she knows what was returned to them to trigger this auto call. Well over an hour spent returning a phone call and I still don’t know what the problem is.

This is after the recent ordeal of renewing Connor’s Katie Beckett Medicaid. KB is a fantastic program. It provides a secondary insurance to kids who have private primary insurance and major medical issues, but it is not based on income. It helps cover costs that are not covered by our primary insurance. We first applied last year with the help of Connor’s early intervention caseworker. The application is a lot of work and a lot of information to gather, but worth the end result. Then the letter came that it was time to renew. We were directed to fill out an online application. We were naive and new to the game so we did it. Several weeks later, we received a denial stating we hadn’t submitted all the requested information. I quickly garnered in FB support groups that 1. it’s better to have them send you the full paperwork packet all together — the online form consistently spells trouble as it’s not really intended for KB recipients, and 2. even if I do fill out the online form, I should then receive a packet asking for additional information, doctor forms, and — naturally — a lot of the same information already asked online. We never received the packet. Just a rejection. I started trying to call for help. You know what you get? A lot of voicemail boxes. Boxes that are full. The denial letter offered me the opportunity for a hearing — you know, in a court. With judges and lawyers. I don’t pay anything out of pocket, except as a taxpayer. Like you. All to get a benefit for which my son no doubt qualifies. I learned in the support groups that this is very common and that you pretty much always get it on appeal at that pesky additional cost to the taxpayers. Then I speak with someone else who advises getting in touch with Connor’s caseworker and seeing if she’ll just give me an extension. Once I finally get the VM when it’s not full, I finally can leave a message which results in the needed extension. We currently await the results of our completed renewal application.

This renewal will happen every year even though Connor has an incurable condition. That’s how it is for everyone.

I’ve been hesitant to be critical of programs that I am so grateful for. We’ve been very lucky in Georgia. I read terrible stories in my support groups of people in other states trying to get their children into the early intervention programs and being wait-listed (which defeats the entire purpose of EARLY intervention), some states  have Katie Beckett wait lists so long the kids age out before receiving benefits and HIPP — which is a huge financial support for Connor — isn’t available everywhere. He receives KB and HIPP because our family has too much income for him to qualify for social security disability.

I agree to jump through your hoops. Can’t you just agree to hold them steady?

I have filled out your paperwork and gathered your very specific requirements of what kind of specialists must provide evaluations of my son (ironically, this leads to you considering an evaluation from someone who saw him once to a much higher value than anything submitted by his regular doctors and therapists that see him all the time). I have made the drives back and forth to the office when my carefully organized packet still turned out to be lacking something.

If we screw up, the penalty for our kids is huge. That’s why we parents jump these hoops. That’s why we give each other tips in support groups. That’s why countless parents lose sleep every year when KB and HIPP renewal rolls around.

Yet the hoops keep moving and changing. Full voice mails, directions to call numbers where no one can help, paperwork not being sent, paperwork being sent minus essential forms, required forms not being available online, people having to go to hearings when if the process was clear and streamlined, it wouldn’t be necessary. You have made it impossible to return a simple phone call.

How much taxpayer money is wasted on these inadequacies? I’ve heard more people are losing benefits as the belts tighten. Maybe if this system worked, more money could be spent helping people. I’m more than happy to submit the proof you need, but perhaps we can agree that an annual renewal for kids who have incurable conditions is excessive? How much time and paper and manpower could be saved on that alone?

Truly, Georgia, I appreciate these programs. I don’t feel entitled. I feel grateful. But special needs parents have to reserve our energy and sanity for more important things.

I need my energy to stay positive on the days when Connor has a setback with his seizure control and wakes up with a violent tonic clonic.

I need my energy for being patient while waiting for my 2-year-old to say his first word.

I need my energy for carrying my 2-year-old who WILL walk…but isn’t YET.

I need my energy for mixing meds twice a day.

I need my energy to fight a government that thinks my child’s access to medical cannabis should be based on his zip code.

I need my energy to keep track of 4- 7 therapy appointments a week.

I need my energy to coordinate an MRI and doctor’s appointment in a very narrow window of when we will be in Boston for a TSC study and when his doctor is actually available.

I need my energy to make multiple follow up calls to hospitals and doctors to remind them they should have billed secondary or that they never sent a form I asked for three times already.

I need my energy to trouble shoot my son’s medical diet for seizures and figure out why it isn’t working as well now as it was in the beginning, and also to force him to eat when he doesn’t want to, because not eating = more seizures.

 

You see, I simply don’t have anything left for you. I will fill out your forms and collect your documents. I will meet your deadlines. I will provide you whatever evidence you need to believe that my son has an incurable genetic condition that causes seizures and developmental delay. But that’s all I have to give. The energy supply is gone. I can’t sit slumped in the waiting room of music therapy, drained from trying to return a phone call.

Please, please stop moving the hoop.

 

A Parallel Universe

Second Annual “Blogging for TSC Awareness Month” Day 29

by guest blogger Sara Weathersby  (Decatur, Georgia) 

At a UGA football game circa 1999.
At a UGA football game 1998 or 1999.

Unlike many who have blogged about TSC, I am not diagnosed with it or caring for someone who has the diagnosis.  I became aware of TSC and the havoc it wreaks through my friends Becky and Chris and their son Connor.  Becky and I went to college together and remained friends in the following years.  We were delighted to find out we were pregnant at the same time.  Connor was due just a month before my second son, Malcolm.  My older son, Max, was a young toddler at the time, so I would share product recommendations and advice with Becky over the next several months.

One day, Becky told me that the doctors found something irregular with Connor’s heart on an ultrasound and were going to observe him more carefully and call in a specialist to examine him once he arrived.  I honestly, confidently believed with every fiber of my being that the doctors were being overly cautious.  If ever there’s a time for doctors to be so cautious, it is certainly when the health of a baby, particularly my friend’s baby, is at stake.  Neither of us were very worried as we talked about ponytail holders and chapstick going into the bags to go to the hospital.

When Connor was born, Becky and I texted back and forth.  The delivery went well and she and Chris were just waiting for the nurse to bring him back to them after some observation.  They waited to hold and cuddle their precious new son.  I waited for the obligatory pictures to pop on my phone.  They waited to gaze into his eyes and memorize every inch of his perfect face.  I waited to hear once and for all that everything was great.

Becky's wedding reception 2010.
Becky’s wedding reception 2010.

But it wasn’t great.  While in the nursery a nurse noticed Connor was having a seizure.  While Becky and Chris waited, the nurses and doctors were trying to figure out what was going on with Connor and how to treat him.  They diagnosed him with TSC and kept him hospitalized for a month.  They determined that he would need neurosurgery to remove a tuber from his brain to hopefully stop the seizures.  The doctors expected him to have developmental delays but didn’t have a clue what that would look like.

This is not the kind of thing that happens to me or my friends.  We work hard, pay taxes and make good choices.  How could this be happening?  How could someone that I know and love have to go home from the hospital without her baby?  What could I possibly say to Becky and Chris?  I certainly had no “been there, done that” mommy advice to offer.

Somehow, Becky and her family were absorbed into some kind of parallel universe where you don’t get to room in with your newborn and take him home to his new nursery in a day or two.  Instead, my friend stayed at the side of her baby’s incubator surrounded by tubes, wires and machines that allowed the doctors to best figure out a plan for his treatment.

Meanwhile, I’m waddling around, near the end of my own completely healthy pregnancy with my completely healthy son.  I wondered what in the world I had to offer this friendship while Becky was going through so much.  I felt a strange sense of guilt and sadness.  All the while I shared in Becky and Chris’s joy that their son was born.

Sara's wedding 2009.
Sara’s wedding 2009.

If I was feeling all these emotions, how much more intense it must have been for Becky and Chris!  I grieved for all the expectations, spoken and unspoken, I had for this new phase in my friendship with Becky. We were both moms now and our sons were supposed to play together.  But what now?  How was TSC going to change our friendship?  I determined that it was better to show up not knowing exactly what to say or do and risk putting my foot in my mouth than to do or say nothing.  Becky and Chris sat in that parallel new parent universe where nothing comes easy.  They were so sad that Connor was having seizures and had been diagnosed with TSC but yet overjoyed to have a son.  They were devastated that there son is not typical but hopeful that his growth and development will come along such that TSC will not put any limits on what he can do.

In the universe I’m accustomed to of course parenting is tough and an emotional roller coaster.  In the parallel universe where Becky is, it seems more intense.  There are more doctors and appointments to keep, more worry, more money to spend, more resources to find.  Everything is just more.  Meanwhile, my own little one made his way into the world and disrupted everything in just the way you expect.  How do I step into this strange place where Becky and Chris are without sounding trite or lacking compassion?

It actually turned out to be pretty easy to be maintain our friendship.  We just kept texting and talking about our boys.  Connor’s milestones look different

Connor in the cow costume, Malcolm as the monkey, Max as the big pirate, and their friend David the pirate.
Connor in the cow costume, Malcolm as the monkey, Max as the big pirate, and their friend David the pirate.

from Malcolm’s.  Connor has to work so much harder to get from milestone to milestone, but he’s doing it.  I was afraid Connor’s diagnosis would put awkwardness in my friendship with Becky because I just wouldn’t understand how different it is to parent a child with special needs.  When the boys play together (as much as they do as young toddlers) it’s clear that Becky and I have a lot more in common as moms of toddlers than there are differences in parenting a special needs child and a typical child.  The fact that Connor has special needs actually didn’t alter our friendship all that much.  Perhaps that’s because Becky and Chris love Connor so completely and have managed to accept that TSC is a part of their lives now.   They haven’t let TSC cast a shadow on their lives or rob them of the joy of parenting.  They have made it easy to ask questions about TSC and what it means for Connor.

As the months went by, I started to realize the idea of the parallel universe where families with special needs children live wasn’t really accurate.  We buy the same diapers, and clothes for our kids.

Malcolm doesn't mind crawling around with Connor, even though he can walk already.
Malcolm doesn’t mind crawling around with Connor, even though he can walk already.

We live with the same healthcare system.  Instead of thinking of families with special needs children living off and away somewhere doing mysterious special needs things they don’t want people like me bugging them about, they’re actually at the same Target store I go to.  We live in the same world but unless you know someone whose child is ill, you can keep going along in your own circles and never hear the stories of these families and their precious children.

In Georgia, we recently had an opportunity to legalize medical marijuana for children with seizure disorders.  Our state representatives failed miserably to pass the very popular bill.  This experience made it clear to me the importance of raising awareness of TSC and the reality faced by families with special needs children.  Just because a policy, or law or healthcare plan works for you or at least doesn’t hinder you doesn’t mean that you don’t have a voice in improving the lives of our most vulnerable children.  Those of us who are blessed with healthy children owe it to our friends, relatives and the people in our communities who are raising special needs kids to keep investing in those relationships even when, and especially when, a child is diagnosed with an illness or syndrome.  We can make our healthcare system work better and our government more responsive.  But first, we all have to be aware.

In the dorm -- Myers Hall at UGA -- in 1998.
In the dorm — Myers Hall at UGA — in 1998.
Both pregnant at Becky's baby shower 2012.
Both pregnant at Becky’s baby shower 2012.

 

We didn’t know at the time that there was a 50/50 chance the baby would have it…

Second Annual “Blogging for TSC Awareness Month” Day 28

by guest blogger Krystal Meier  (Rochester, New York) 

WP_20130503_022My story begins in 2005. I was 20 years old and I had just started dating my husband. We had talked about it and I knew he had TSC when we started dating. I was aware that he had seizures daily and that he had a kidney removed at age 20. That was all I knew of TSC and I accepted all of it. Then I got pregnant. We didn’t know at the time that there was a 50/50 chance the baby would have it. I was not the most careful and I didn’t go to the doctor the first time until I was 16 weeks pregnant. We asked the midwife if she knew anything about TSC and the risk to the baby and she thought it could be like other genetic disorders where both parents needed the gene in order to pass it on. We scheduled our first ultrasound and left that day feeling pretty happy about things. At that ultrasound we were excited to see what we were having and had no idea what was to come that day and what would follow. The technician did the ultrasound and told us it was a girl, which was very exciting for me, but then she promptly left the room. I was scared and had no clue what to think about what was happening to me and my baby.  The doctor came in and went over all the pictures again and saw a giant tumor on the baby’s heart. He sent us from there to another hospital and genetics. On this day that I was so excited for I was told something heart breaking — and that was not even the start of it. We sat at a giant table surrounded by doctors as they told me all kinds of information that I cannot remember. All I wanted to do was WP_20130504_004cry. My baby was diagnosed with TSC and I was in and out of the hospital for tests weekly. There was a 10% chance the baby would survive and I took that chance and kept the baby. We did all the appointments, and in the  meanwhile, I was working. I had no idea what was to come and how much this would change my life forever. The weekend of September 11th in 2005 I was at a festival and felt like I couldn’t breath. I was getting no air in my lungs and could not take a deep breath. I called the doctor who told me to come right in and they would take a look. Everything from that point on is a blur in my mind and just small pictures but I can tell you what happened from others’ accounts. I was admitted and put on oxygen immediately. I was dying of heart failure as was the baby growing inside my stomach. My lungs were drowning in fluids and I had preeclampsia. I lost the baby and almost lost my life at that point. I had what was called a peripartum cardiomyopathy  cause by mirror syndrome. One would think that I would have given up on having a baby with my husband at that point. Not me. I wanted a baby and I wanted it with my husband. 

In 2007 I got pregnant again. The doctors followed me for my entire pregnancy and at my first ultrasound all looked well. They told me I should come back in a month and check to make sure all was still well. I was happy that all look good, but when a month came around I had to fight to get that ultrasound. I eventually was able to get it at 20 weeks and it was then my heart broke all over again. This baby, another girl, had tumors in her heart. I was filled with the anxiety that she would not make it. I was afraid to plan for anything too far out, but I also felt that I had to enjoy the pregnancy. I worked throughout my pregnancy and they planned to induce at 39 weeks. I was excited to meet my baby at that point but still slightly scared of what was to come. They induced me on a Tuesday and I was sent home on Wednesday because the baby just wouldn’t come. On Thursday I went in for an ultrasound and WP_20140521_001the baby hadn’t grown in two weeks so it was back to the hospital for induction again. Once again the baby was not coming and they wanted to check on her again. The baby was breech and I was sent for an emergency C-section. Fiona was born at 2:42 on January 18th. I was so happy but didn’t get a chance to hold her before she was swept away to the NICU. I went to the NICU after I was finally able to move my body. She was in the NICU for four days to wait for a duct in her heart to close and to see if her heart could function after it did. All went well and I was sent home after four days. Our lives were good, and aside from some appointments to check on her, our lives were pretty normal until she was seven months old. Early September in 2008 I started to notice her having infantile spasms and knew what to look for because we had her in to see a neurologist since birth. I wasn’t completely sure but I was guessing that was what it was, but I ignored it at first. I let it go until others saw it also. She was admitted to the hospital on September 11, 2008 and was kept for six days to monitor and get meds adjusted. By December 1, 2008 she was seizure free and stayed that way until October 1, 2010. That day was one of the most terrifying days of my life. She was sick and had gone down for a nap. She awoke and was just staring at the ceiling. I went to her and tried to move her head but it was locked into place. She was just staring ahead and could not move. This went on for 15 minutes and then she seemed tired but well. We rushed her to the hospital and on the way it started again. She was again unable to move, only this time she was vomiting all the while. She was still in a seizure when we arrived in the emergency room. They gave her a medicine that stopped it immediately and they ran all kinds of tests but there was no cause for the fever that she had earlier in the day that caused this seizure. Once again, after this episode, all was well. This calm period went on for about a year then she started having a new type of seizure. She would wake up and scream and rock and all sorts of other things. At first I thought it was a night terror until she WP_20130321_001-1started to have them during the day. She would be up 10-20 times a night and have 3-7 during the day. I called the doctor and he wouldn’t see her or even talk to me; he just sent me a message to increase her meds and add new ones. She was suffering this entire time. I reached out but everyone said it was just night terrors or a febrile seizure. I felt alone and I was getting no sleep. I was afraid of what was happening to Fiona and her behavior was awful. Finally I decided to take her to her primary care doctor and he got the neurologist on the phone. We set up long term monitoring for Fiona and she went in two days after her birthday in 2012. We were in the hospital for four days that time. It took four days to have a seizure during the day that didn’t follow a nap. It was a long and hard process but her meds were once again adjusted and it worked. Since then she wakes up once in a while with a scream. She has started to have episodes at school where her eyes go back and forth quickly and she sees things. These have only happened at school so I have never seen it myself. Every once in a while I will catch her eyes with a look that says maybe she might be having a seizure but it never amounts to anything and more recently she has complained about feeling funny. I hope nothing comes of these things and she remains seizure free. 

During this time I also had another baby girl. Bonnie is 3 and so far has no signs of TSC though she has yet to have any genetic tests done. When she is much older they may do an MRI to check to see if she has an signs in her brain but for now she is health and happy.

I believe that the baby you have is the baby you are DESTINED to have.

Second Annual “Blogging for TSC Awareness Month” Day 26

by guest blogger Samantha Wiemuth 

380706_3812061342327_1520302945_nZander was born June 25th, 2004.  He was 8 lbs 13 1/2 oz and 20 inches long.  He seemed healthy and happy.  We were so excited he was finally here since he made us wait an extra 10 days to arrive!  In the first week of being home, he was down to 8 lbs., and we had to feed him through a syringe and a dropper until he was strong enough to suck on his own. Within the next few days, Zander gained all his weight back and he was healthy again.  A few months later, Zander started dropping his head into his arms when he was in his johnny jump up. My sister and closest friend KNEW he was having seizures and told me to make a doctor appointment, I thought he was just playing, but we took him to the doctor just to be sure.  On November 30th, we met with a neurologist.  We told him about Zanders episodes and that my husband Jamison had a disorder called Tuberous Sclerosis. We were worried Zander could have this too.  The doctor told us to come back in the morning for more tests and a sleep study. 

That next day was one of the worst days of our lives. Zander was diagnosed with Tuberous Sclerosis and infantile spasms.  My world came crashing down, but I believe that the baby you have is the baby you are DESTINED to have. Zander was meant to be my child, and I was meant to be his mom. Over the next few days, we learned Zander had been born with Tuberous Sclerosis.  He had tumors on his brain and heart, lesions on his eyes and kidneys, angiofibromas on his face and ash leaf spots on his body. This rare disorder happens in only 1 of 6,000 live births. I was devastated thinking I did this to my baby! 

The medicine we needed to treat Zander was NOT FDA-approved in the United States yet, so we had to order it from Canada.  As Zander grew, so did his 390033_2967906558985_1857922567_nseizures.  They became harder to control and more aggressive.  The damage from the infantile spasms and seizures caused delays in Zander’s development.  Despite all of this, Zander had this amazing spirit, and we celebrated everything he was able to accomplish.  He said his first word at 11 months old.  He started walking at 2 1/2, just in time to go trick-or-treating with me, hand-in-hand!!!! He started school at age three, and by this time he was having 5 to 10 seizures each day.  He was on three seizure medicines and one emergency medicine.  After one especially hard day, I called a friend for support, and she suggested that I take Z to see a chiropractor.  She knew of a great lady with a gentle touch, and that I should just give her a try and see what I thought. I had been so worried about taking him to the chiropractor since he was so little but I was desperate and didn’t want him to get worse. I was ready to try anything! Zander started going to the chiropractor three times a week for a whole month of September 2008 straight. At the end of that month, Z had a huge seizure. When I called the doctor they said he was toxic (He was toxic because the adjustments got his body aligned and his blood flowing correctly to the brain). It was too much medicine flowing through his body) and we needed to take him off two medicines all together and reduced the other one by half!!!! It was AMAZING! I couldn’t BELIEVE we were taking him OFF medicines and not adding more!! Zander then was seizure-free from Oct 2008 until June 2010. 

20140521_201450In June 2010 my husbands job transferred us from Wisconsin to Texas. I was lucky enough to find the Texas Scottish Rite Hospital right away a few months before we moved here. The TSC clinic has been such a blessing to our family. We had to find a new chiropractor though, and we were lucky enough to find the perfect one on the second attempt. After we found Dr. Eric Alvarado in Arlington, Z started to be seizure free again about January 2011!!! He has only had about 15 seizures in the last 4 years. He is only having them when he is overheated or when we travel more than ten hours straight. As he continues to grow, we are reminded every day what a strong and amazing young man he is and what a blessing he has been in our lives.  Zander still struggles everyday with controlling his behavior, physical activity and academics. 

So, when he turned 7 (2011), we decided to submit him to the Make-A-Wish Foundation.  We were hoping for some relief and to be able to do something fun! Zander was so excited he picked out two wishes just in case they weren’t able to grant the first one! He wished to be a Zookeeper and his second wish was to be paleontologist!!! When his wish granters came over, they made an instant friend when they gave him a huge dinosaur and cupcakes!  They were so great and kind with him.  Since Zander 462600_4011267802364_170064335_ohad been approved to receive a wish, Make-A-Wish has included Zander in every activity they have for his age group. We stopped by the Fort Worth office and Zander received a huge warm welcome and even more gifts. We went to Brooks Brothers to get fitted for suits for the Make-a-Wish Gala event and he received even more gifts and treats. They were all so sweet and accommodating to our family. Zander has truly been treated like a king and I’m so overwhelmed with gratitude for everyone at the North Texas chapter of the Make-A-Wish Foundation!!! Then May 26th 2012 was Wish Day!!!! They Took
him on an AMAZING scavenger hunt and then topped the rest of the day off at the Dallas Zoo!!


After his Wish things went back to normal for a while. He was doing well, no seizures, behavior wasn’t too bad, and life was good. Then March 24, 2013 our world was turned upside down. My mother passed away unexpectedly. This was horrible for Z; he was very close to my mom. He stopped sleeping, stopped eating, started have bad behaviors. I did everything I could think of to help him: therapy, let him sleep with me with out arguing, went to two hospitals. Then we got him on new behavior medicine which ended up with him being suicidal. It was the worst year ever. Finally we got him off those medicines and into more therapy and with some healing he is doing better. His seizures are controlled with weekly chiropractic adjustments and seizure meds. I am thankful my son is alive and well today!! 

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It’s not all about the TSC.

Second Annual “Blogging for TSC Awareness Month” Day 24

by guest blogger Sarah Gray  (Atlanta, Georgia)

Mary Stuart, 16, Julia, 14, Jackson, 12 and Millie, 8
Mary Stuart, 16, Julia, 14, Jackson, 12 and Millie, 8

I have four children, who are mostly a joy and a delight, despite their collective inability to clean up anything. We spent three years dealing with miscarriages and infertility (“the dark years”) , and my husband and I are incredibly grateful to be parents to the big family we always wanted. That’s not to say we haven’t had our challenges!

Our first child arrived perfectly on her due date, and was a ridiculously easy baby. Hardly ever cried. I nursed her exclusively for five months and for a total of 9 months. We had her head x-rayed at age 2 or 3 or 4- I can’t remember much with my addled brain- because her soft spot hadn’t closed up, but it turned out to be just a weird thing. She never crawled on all 4s; she went from commando crawl to walking at 16 months. When she was older she had pretty strong sensory issues, and could not stand to have any tags in her clothes, which made it tough when I was handing things down and couldn’t figure out what size anything was. In typical oldest child fashion, she is a perfectionist and has a lot of stress, but we are surviving teenager-hood and she is finishing her sophomore year, in mostly honors classes, at a competitive private school.

Our second child was really active in utero, and partly because of that, we were shocked when she arrived and wasn’t a boy! She was a pretty typical baby, and a hilarious toddler. I nursed her exclusively for about a month, and a total of 5 or 6 months. She walked at 15 months and was clumsy- she had a perpetual bruise in the middle of her forehead. She was late to talk in sentences, but after some speech therapy caught up with a vengeance and was chided for talking too much in Kindergarten. She is a star in a local junior dance company, and I can’t believe I have a child who can dance in toe shoes, since I am so uncoordinated. She is completing 8th grade at the same school, in mostly honors classes and on honor roll.

Our third delivery was really fun because we had the “It’s a boy!” moment when he came out peeing all over like a loose garden hose. I nursed him for about 4 months maybe? He was a great baby; walked at 17 months just before we were going to start worrying. He had sensory issues that we noticed from about age 1: he wouldn’t eat frosting or ice cream, didn’t like finger foods that made his hands dirty, and as a toddler wouldn’t walk on bark playgrounds with sandals on. At age 4 he was flagged for OT in preschool. In first grade we had him evaluated, and he was shown to have many deficits which I can’t really describe, but I remember when she blindfolded him and held his head he got really uncomfortable. He loved OT, but after 3 years of trying to make his hands stronger so he could write legibly and without pain, I gave up and asked his teachers to let him type his assignments. He’s finishing 6th grade at the same school as his sisters, doing very well academically, but has OCD-like tics like playing with his fingernails, and still doesn’t eat frosting or ice cream! He plays basketball all 4 seasons of the year.

Number four is an adorable, somewhat spoiled youngest child- the only one with light hair and her daddy’s beautiful blue eyes. I got really sick when she was 2 months old and had to quit nursing cold turkey- ouch. She has extremely pale skin, and was the earliest walker of the 4- 14 months!! Someone said, “well, that’s OK”, and I said, “Are you kidding? She’s a prodigy!” At the end of Kindergarten, her teacher suggested that we hold her back, so we moved her to the school her sisters went to so she could go to pre-first and catch up a little. Later that year we suspected Dyslexia or some learning issue and had her evaluated, and she is on the lower side of the ADD spectrum, and has some visual processing issues. She is obsessed with cats, and is very, very social. One of her 2 “BFF’s” has cerebral palsy and uses a walker.

So which one has TS? Just one of them. I know I cheated because I left out the seizures and skin issues, but I was trying to make a point, which is hard to articulate. I guess I am trying to say, clumsily, that every child is his/her own wonderful, amazing self, with abilities and flaws, with strengths and weaknesses, and TS may be something that they have, but TS is not who they are.

Julia about a year after diagnosis.
Julia about a year after diagnosis.
Julia in her middle school performance of Bye Bye Birdie- she was diagnosed with TS at 19 months, with the onset of seizures. She has all the typical “stuff”, and since it’s TS. she has weird stuff, too, like a big bump/growth/thing on her tongue. The world would definitely be an emptier place without her in it!
Julia in her middle school performance of Bye Bye Birdie- she was diagnosed with TS at 19 months, with the onset of seizures. She has all the typical “stuff”, and since it’s TS. she has weird stuff, too, like a big bump/growth/thing on her tongue. The world would definitely be an emptier place without her in it!
Julia’s Team at one of the TS walks.
Julia’s Team at one of the TS walks.