Tag Archives: AML

Boston TSC Study, Parenting, Travel, Tuberous Sclerosis

Connor’s version of March Madness includes an MRI and sedation

March 28, 2015 Rebecca Gaunt 1 Comment

So much going on this Month but we made it.

We gave him a playroom, and he acted like he'd been sentenced to Riker's. — We gave him a playroom, and he acted like he’d been sentenced to Riker’s.

We still have a child named Connor, in case my lack of blogging made you think he had packed up and run off to Borneo as revenge for us regulating his iPad time.

Let’s back up to February when we heard a loud thump followed by crying from his room. We ran in to discover that we had a Defcon 1 situation and Connor had escaped the crib. He wasn’t so much hurt as I think he was surprised by the floor, so he transitioned to the toddler bed that week. I did not expect it to go well. We moved more toys into the room, added a gate to the door and removed all potentially dangerous and/or greasy objects from his drawers. The first night he cried and yelled for two hours and I had to rock him to sleep. Not because of the bed, but because baby gates have always inspired great rage in him.

But after that, piece of cake. He would actually get in bed and stay there. I was shocked. I had expected him to trash the room and pass out in various spots on the floor. Instead, he stays in bed until light begins to peek through in the morning, and then he’ll either go play or drag objects into bed with him. In the beginning I’d find him passed out in a sea of pants and diapers he’d dragged from the drawers (yeah, no idea) but he has since graduated to his puzzles and trucks. The transition has been incredibly easy as long as he has his Pillow Pet dog to shine on the ceiling.

Staring into is even better than watching the ceiling.

March was probably the busiest month we’ve ever had.

Washington D.C.

Chris and I joined other TS Alliance volunteers from around the country again this year to meet with our congressional representatives and senators on behalf of our state. I’m excited to say that the Alliance got the most signatures ever in support of the Tuberous Sclerosis Complex Research Program. Georgia Senator Johnny Isakson was one of the authors of the senate Dear Colleague letter, and in the House of Representatives from Georgia, both Rep. Hank Johnson and Rep. David Scott signed on in support again this year. We were fortunate that the meetings were set for Wednesday March 4 since a snowstorm blew in and shut down the government on Thursday. Despite the cold, Chris and I got a lot of sightseeing done. And I only busted my butt on the ice once.

Boston

We flew home from D.C. on a Friday, picked up Connor from my parents and flew up to Boston on Sunday morning. I had booked an early flight since this was our last trip given Connor is aging out of the TSC study and I wanted to make the most of the day. I was not aware at the time of booking that we would be losing an hour of sleep thanks to Daylight Savings. We boarded our 7:30 flight, took off, and landed right back in Atlanta 10 minutes later due to an issue with the landing gear. I was tired and disinterested in dragging a sleeping toddler off the plane so my thought was, if we gotta land on it, let’s just do it in Boston. If it meant spending the day in the airport waiting for a flight we weren’t going, but crazily enough Delta had a plane ready immediately so off we went. Boston was still covered in several feet of snow from the big storms the previous month. Roads and sidewalks were cleared, but space was tight with the mountains of dirty snow and abandoned cups on each side of the sidewalks (because apparently trash melts too when thrown in a snowbank).

While we were there we scheduled Connor’s annual scans. He had a brain MRI and an ultrasound (the recently updated protocol recommends an MRI of everything, but I just couldn’t seem to get someone on the phone that would make that happen this time). Since kidney involvement is common, we prepared ourselves for the possibility that Connor would have some sort of involvement by now, even though his previous scans at birth and six months were clear. When the tech came back to take additional photos after showing the initial pictures to the doctor we were pretty sure we were right. Connor does now have signs of TSC in his kidneys–innumerable minuscule angiomyolipomas. They are not problematic or affecting his kidney function, so we will just continue to monitor for growth. Hopefully they will not ever require intervention.

Weirdly, though I prepared myself for changes in the kidneys, I did not expect any change in the brain. There is no rational reason for that, I just didn’t. Turns out that one of his SENs in the ventricle has grown from 5mm to 7mm. It does not require intervention at this time, but the doctor recommended a followup in six months to be safe, rather than waiting the usual year.

So, not the best news, but certainly not the worst, or anything too crazy for TSC.

My crowning achievement of the trip was while Connor was having his MRI. I fell asleep in the waiting room, and awoke to the nurse telling us we could come back and see him. I jumped up in a half-asleep state of confusion not realizing my leg was completely asleep. I mean absolutely 100 percent numb and unfunctional. I crashed to the floor drawing a gasp of horror from an onlooker. I tried to get up, but couldn’t. My leg could not support any weight whatsoever. I looked really cool, but seemed unhurt…until we flew home that night. Then began the first of several days of my ankle looking like this:

But I must reiterate — I looked really cool.

Katie Beckett and IEP

Upon return I dealt with the immediate turnaround of Connor’s Katie Beckett renewal paperwork. They give you like a whopping two weeks to get it done, plus it came while we were out of town and was due when we would be gone again. Thankfully, we had an easy renewal this year (assuming we get re-approved), requiring only some basic forms and not the common 10,000 pages of therapy notes.

Then we had Connor’s first IEP meeting since he’s aging out of Babies Can’t Wait. He will begin at the special needs preschool in April, attending Monday through Friday from 8 until 12. It went pretty well. Their goals were well in line with what we were looking for. He will receive 45 minutes of OT, 45 of PT and 60 of speech a week. Plus he will continue with private speech, OT, music and aquatic.

Connor’s 3rd Birthday Party

We celebrated Connor’s construction-themed birthday a week early since we needed to be out of town for a wedding on his actual birthday. He was very accommodating in that he doesn’t know what date it is anyway and never has objections to being given trucks on any given day. Rosie the dog donned her construction gear and I even tried my hand at amateur cake making:

A few days later Connor went to my parents and we went to Antigua, Guatemala to round out a whirlwind month…but that’s my next post. Stay tuned so I can get all Rick Steves on you.

Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

Diagnosed with TSC at age 18.

May 22, 2014 Rebecca Gaunt 1 Comment

Second Annual “Blogging for TSC Awareness Month” Day 22

by guest blogger Vicky Garrett

(Ferryhill, County Durham, North East England)

Vicky and her fiance. — Vicky and her fiance Kevin.

So my journey started later in life for me. It all began in 2005; I was 18 years old and I had just given birth to my wonderful son Leo. During my pregnancy I had suffered with a large amount of kidney infections but I was just given antibiotics and told to go home and rest and that kidney infections were common with pregnancy. However, after I gave birth I found I was still getting very bad pains from my kidneys (the left even more) and so I was sent for an ultrasound scan where the sonographer announced she had found loads of unusual lumps on both of my kidneys and that she sent the results to my GP. She told me he’d be in touch.

A few weeks later my GP sent me for a more detailed Cat scan where they injected a dye into my blood system so they could take a closer look at these ‘lumps.’ The results were again sent to my GP.

My GP didn’t have any idea what they were, so he had the idea to send me to a urologist to see if they had any ideas.

The urologist explained I had around 30-40 lesions on both kidneys, one of them being 11cm x 9cm on my left kidney and he told me it would need operating on ASAP. He said, “If you accidentally knock your kidney and the lesion bleeds you’ll have an hour to get to hospital before you die.” Those were his words. I was totally shocked and didn’t know what to do. He offered me an operation called an embolisation in which they cut off the blood supply to the lesion to see if it will die. He said I’d have the op in the next few months, and in the mean time he sent me to a geneticist.

The first appointment with my geneticist will stay in my mind forever. I was still 18 and had a young baby. My fiancé and mother attended the appointment with me for support.

The geneticist was a lovely man named Dr. Brennan from James Cook Hopsital, Middlesbrough, England. He greeted me with a big smile and sat me down.

Vicky's partial nephrectomy scar. — Vicky’s partial nephrectomy scar.

First he went through a list of all my family members to see if there was any possible link which we didn’t find. Then he went on and explained what he thought these ‘lumps’ were. Being 18, most of it went over my head but I took in what I needed to. He explained that these lumps were called angiomyolypomas which is a common find in the genetic mutation Tuberous Sclerosis Complex. He didn’t explain much about TSC and told me the best thing I could do was to research it myself at home as it is a very complex condition.

Dr Brennan then went on to explain the other symptoms of TSC and told me I’d be going for quite a few scans to check all my other major organs; he also checked my skin for the different TSC skin mutations and I had every single one!

Dr Brennan took blood from me and told me he was sending it off for an extensive search of the TSC gene. He advised these results could take up to two years to come back.

Finally, Dr Brennan advised that he would test my son as there is a 50/50 chance that I could pass down the TSC gene and he advised me at 18 years of age to have no more children as the risk was too great.

I left this appointment with a blank mind and an empty heart. Over the next few weeks I didn’t want to face what had been said to me and I tried to ignore it all, focusing on my little boy.

Sadly, due to a mistake from my urologist I didn’t get my embolisation until a year later. Unfortunately a scan later revealed that the embolisation had failed and I was facing a much bigger operation called a partial nephrectomy in which my new urologist took the large AML and half of my left kidney. It took me six months to recover from this op but the pain in my left kidney was no where near as bad as before.

Not long after my operation I received an appointment to see my geneticist…. The blood results were back after 3.5 years and they couldn’t find my mutated TSC gene. Dr. Brennan advised that I still had the diagnosis of Tuberous Sclerosis Complex and that the gene must be hidden where the technology couldn’t reach but hopefully advances in technology in years to come may eventually find the mutation.

I have since been approached by Cardiff University in Wales because they do a lot of research for TSC and they have found new technology to search further into the DNA. They are taking a closer look at my blood to try and find the mutation gene. My blood has been with them around a year and I have not had any news yet.

Since then I have had a little girl and both children have been tested. Thankfully they are both clear, but myself and my fiancé have decided to have no more children.

I am also currently awaiting another operation as I have a large AML on my right kidney. My urologist is trying to decide whether to try an embolisation or whether to go straight for another partial nephrectomy.

I have a lot of friends on Facebook who have either their own TSC journey or have children with TSC and they are like a family to me. If I ever need support they are there and they know exactly what I am going through and feeling. I have a wonderful fiancé and two gorgeous children. Sadly a lot of my family do not understand what I am going through and some don’t want to admit that I have a condition which will affect the rest of my life.

It has been a very tough nine years and I am still trying to understand TSC. I think I will always be trying through the rest of my life.

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

My Roller Coaster Life

May 21, 2014 Rebecca Gaunt Leave a comment

Second Annual “Blogging for TSC Awareness Month” Day 21

by guest blogger Paula Krischel (Dwight, Illinois)

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.

The 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.

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, Tuberous Sclerosis

Hope. Encourage. Inspire. Never Give Up.

May 16, 2014 Rebecca Gaunt Leave a comment

Second Annual “Blogging for TSC Awareness Month” Day 16

by guest blogger Samantha Sinclair (Maple Shade, New Jersey)

Hi, my name is Samantha. I am from Southern New Jersey and about 23 years old. I was born with Tuberous Sclerosis and have had numerous laser surgeries beginning in adolescence and continuing into adulthood. I have multiple angifibromas on my face (with redness) and a few on other parts of my body, ash leaf spots (no pigment color of my skin in that section), skin tags (until they were removed), and 5-6 AMLs (angimylopomas) in total attached to my kidneys. I also had a large surgery last year in 2013 that removed an AML from my kidney through a process of three surgeries. I first had it embolized, then the AML turned into a tumor-like sack which was drained, and then it came back again and was completely removed. This was my biggest surgery besides the numerous laser surgeries I have had. I had 1300 milliliters removed from my body with that one AML. I felt extremely lucky to have conquered this surgery and move through the recovery process to live a healthy life.

I have had one seizure since I was 3, but prescriptions have helped prevent them from occurring anymore. I am blessed to say I have a mild case of Tuberous Sclerosis because I have not endured countless seizures or other cognitive obstacles. In May 2013, I graduated from Georgian Court University with a Bachelor of Arts in Psychology and am currently finishing up my first year in a Master’s Program for Clinical Mental Health Counseling at Georgian Court. In addition, I am very blessed to have my fiance, Eric, who loves me no matter how easy or difficult the circumstances. We have a lovely life, been together for six years and engaged for about two years. We are excited to be getting married in June 2016.

Overall I cherish many moments of my life because I have been able to live a healthy and happy life. My life encompasses warm memories of competing in sports from high school into college, and the arts such as musicals, drama club, and playing an instrument. I have been involved and held many leadership positions in many organizations and clubs on campus during my four years with Campus Ministry, Student Government Association, and Campus Activities Board, along with assisting many organizations with different events. I also really love to do volunteer work and have currently held two walks at my university over the past few years raising funds and awareness for Tuberous Sclerosis with the help of the TS Alliance. I am a fun, outgoing, understanding, and caring person who believes in living life to the fullest. I enjoy nature and I am always interested in new experiences.

I just joined the TS Alliance Group and even though I have organized a couple walks at my university to raise funds for TSC it’s nice to be apart of a group where you can share your helpful advice and provide support to others. I love learning about people’s stories, triumphs, and overcoming the obstacles. I feel very lucky for what I have accomplished and what I continue to strive to accomplish. For a long time over the years, I felt alone with TSC because I had no connections to others with various experiences to share, connect, and provide support to each other. Although my family and friends were there I wanted to feel connected with people who could truly understand what I was and still am going through. During those walks I organized I heard incredible stories that moved my soul. I admire all those people I heard stories from that were far more difficult than mine and I continue to look up to people who deal with TS on a regular basis and see the light in their journey. There is no light once you hit the end of the tunnel, the key is to look for the light throughout your journey and turn it into a positive. I look forward to being apart of this group, learning and being there for people, and hearing your experiences. I would say having TS has made me stronger and encourages me to live a full life every day. TS pushes me to conquer everything that may seem impossible and achieve my dreams which are endless. TS does not stop us. It does not define who we are; it is only a small part of our whole person. I learned if we never give up on what we believe or want to achieve in life, great things can happen in ways that you may never have thought possible. If anyone ever wants to talk, share stories, needs advice, or support I am here to help.

Mixed Up Mommy