As parents of children with rare diseases, we get thrown into this world without any idea how to navigate it by ourselves. If you're lucky, there is a support group for your child's disease. But our friends may not even know the lingo, the name of the disease, or how they can support you on your journey. In the beginning, we didn't even have the correct diagnosis (as happens many times in the rare disease world). I contemplated this question and thought I would give you a list of ways to help the rare disease parent in your circle.
However you decide to help out, just know that the smallest things can make a big impact. Reach out and help when and where you can. We appreciate all the love and support we can get here in the Rare Disease community. Thank you for being willing to support us on our journey.
]]>Every year since 2008, Rare Disease Day is celebrated all around the world. Since February 29th is the "rarest day" on the calendar, it was chosen for that date. Most years, like this year, it is celebrated on February 28th instead. It was created by EURODIS and the Council of National Alliances to spread global awareness and bring rare diseases to the spotlight. I have been celebrating it for the last several years to bring the spotlight to my own kids' rare disease, Neonatal Diabetes.
]]>Your child is diagnosed with a rare disease. What do you do now? Like many parents of a child with a rare disease, I first hit up Google for answers. In the times we live that is not a bad idea. More and more, groups of people with rare diseases are forming patient support groups, writing blogs, telling their stories on social media platforms, and connecting in any way they can. Raising awareness about your rare disease helps move that needle further down the line.
Every year since 2008, Rare Disease Day is celebrated all around the world. Since February 29th is the "rarest day" on the calendar, it was chosen for that date. Most years, like this year, it is celebrated on February 28th instead. It was created by EURODIS and the Council of National Alliances to spread global awareness and bring rare diseases to the spotlight. I have been celebrating it for the last several years to bring the spotlight to my own kids' rare disease, Neonatal Diabetes.
This year, because I am focusing on editing and publishing my memoir, I am not doing anything big. However, I want to spread a little awareness about what my kids have and what I have learned along the way.
To be classified as a rare disease, it must affect less than 200,000 people (in the US).
According to the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), "Neonatal Diabetes Mellitus (NDM) is a rare condition accounting for up to 1 in 400,000 infants in the United States." When I was presented with that information after my son's initial diagnosis, I wondered where the other babies were that would have his same condition. I did some research for births that year and determined that, statistically, there should have been at least 9 other babies that year diagnosed with Neonatal Diabetes.
Throughout the years, I have researched and found many families like us. While not born in the same year, we have connected with other NDM families and formed a support group so we can all help each other. It's not a perfect solution, but it's working slowly.
DEND is a subset of Neonatal Diabetes (which is a subset of Monogenic Diabetes). It is an acronym that stands for D-Developmental delay, E-Epilepsy, and ND-Neonatal Diabetes. There are between 40-50 cases reported of this syndrome worldwide. Both of our children have DEND. It is a diagnosis that takes time. Originally, it starts with the Neonatal Diabetes diagnosis under the age of 1, usually under the age of 6 months (there are a few cases of a later diagnosis).
With DEND, there is a slow progression of the other symptoms. The Developmental Delays come into play as they grow. We noticed our son's delays at around 18 months old, but it took a while to get an official diagnosis. Granted, at the time, we didn't know his particular mutation was causing this. Our daughter was on track for development at a year old but started showing some delays around the same time as her brother. Her delays are not quite as severe, but they are still there.
The epilepsy was more difficult to diagnose. My children both have a type of seizure that most people are not aware of. It is called absence seizures and they are extremely difficult to identify. With Andy I noticed his eyeballs shaking one day when he had low blood sugar. At first, I thought it was related to that, but as time went on, I kept seeing the signs and finally brought it up to his doctor at his 6-year annual checkup. Katie was about the same age when we started noticing hers, which was more of a blank stare. After she ended up having a couple of grand mal seizures, we discovered she was having some breakthrough seizures at night. Now that we finally have a good medication, we rarely see seizures with either of them.
You can help spread awareness by sharing about your rare disease, or that of a loved one, or posting about other rare disease websites like ours. Our mission for this site is to be a resource for parents to have when their child is diagnosed with a rare disease. We want other families to know that they are not alone.
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For every parent, the birth of their child is a significant month. But for the parent of a child with a rare disease, or a significant diagnosis, the month of diagnosis is also a time that is forever remembered. For some, especially in the diabetes world, we call this our "Diaversary". August is always a hard month for me because I am excited for the new beginnings of school. The smell of fresh pencils and notebooks. The look of brand new shoes and clothes on the kids. Everyone is looking their best in all their gloriously shiny new backpacks and smiles as they head off to a new school year and Katie's birthday is always celebrated around this time too.
But that joy that I feel is always shadowed by the tightness in my chest as the end of August approaches. Because as most parents know who have been through the trauma of the NICU, PICU, a cancer unit, a significant hospital stay for any reason, or even just the endless appointments it takes to get the official diagnosis of autism (it's not an easy road), you never forget the emotions of those moments. There are even some psychologists and psychiatrists who say that parents of children with chronic illnesses, rare diseases, and special needs experience PTSD. I would have to agree with that because I am 13 years into this journey and it still pains me to look at the pictures of my son back then. It is one of the biggest reasons I have never even finished his baby album, and honestly quit scrapbooking altogether. I just couldn't bring myself to put the pictures together on a page. Quite honestly, it is probably the main reason I am struggling with writing my book. I get stuck because the emotions are still so raw. Even typing these words, tears are beginning to flow.
So here is our diabetes diagnosis story. Not the full version. I will save that for the book some day. But for the sake of the Diabetes Anniversary, here are both Andy and Katie's shortened version of their initial diagnoses.
Andy:
Andy was born April 18th, 2005 and spend 6 days in the hospital. Doctors were baffled by something that didn't seem right with him. But test after test showed nothing wrong so we took him home. He slowly began to gain weight, nurse, and grow like a "normal" baby. He had what we thought was colick and Dan used to hold him by his tummy to soothe him at night. Andy began to sleep through the night around 6 weeks old. We took our first vacation as a family in the beginning of July and when we cam home, I weighed him on our bathroom scale. At the time, he was weighing in at about 13 pounds.
At the beginning of August, Andy started attending an in-home daycare. At the same time, I also ended up spending a night in the ER for kidney stones. The weekend after that, he got his first cold so we just attributed it to one or both of those as the cause. However, when he didn't seem to be getting better, we took him to the doctor. The doctor said "it's a virus, let it run it's course". The following week was his 4 month check up. When his weight showed up at 10 pounds, the doctor said he hadn't gained weight since his 2nd month. I told him he had lost weight based on my scale at home, but the doctor blew it off and said not all scales are accurate. Several more visits and several more "grasping at straws" diagnoses and I was getting fed up with the doctors at the pediatric group we were using.
On August 23, 2005, Dan got off work early and picked Andy up from the babysitter. When he did, it was obvious that he was extremely ill. Andy was rushed to the emergency room around noon that day and the doctors and nurses worked frantically for what seemed like an eternity. Around three hours later, the doctor pulled a paper off the lab report and shook her head in disbelief with the words I will never forget, "his blood sugar is high and his pH is low. It doesn't make sense. He's too young!"
It would take over 2 days to bring his blood sugar down because he was over 1200. His right side was paralyzed and although he was "awake", he wasn't really there. Dan and I called it a waking coma. He wasn't technically in a diabetic coma, but he just lay there, not really responding, not really looking into your eyes, not laughing or smiling, just barely hanging on. It was August 26th, around 3 AM in the morning that Dan told me Andy woke up in the bed next to him and was finally alive again. His boy was finally back again and he knew that he would be alright.
Initially, the doctor we had at that hospital told us Andy had a really early onset of Type 1 diabetes. Just some unusual, unexplained reason that our 18 week old baby all of a sudden needed insulin for life support and would need it for the rest of his life or until there was a cure. It would take a move to another state before we found out the true diagnosis over a year later.
Katie:
Four years and four days after Andy's birth, we welcomed Katie into the world. On August 18th, 2009, she was brought into our world with a little bit of heightened anticipation. I already had my suspicions even though the doctors had tested both Dan and my DNA with negative results. But the fact that her growth was dropping during the third trimester had me worried that we might be headed for round two. To appease me, our pediatrician agreed to have her blood sugars tested regularly starting immediately at birth and again within the second hour and then every 3 hours while she was in the hospital. The agreement was if she was over 100, they would put her into the NICU for observation.
Her first blood sugar fresh out of the womb was 96 and the second was 117. I knew it immediately. But the doctors were once again baffled. They just could not logically reason that two parents whose DNA was negative for the gene, and one child with a suspected de Novo mutation could have a second child with the same genetic mutation. Lightning should not have struck twice. Over the course of the next week, we continued to check sugars. She only had a sugar below 100 once or twice and both times it was in the high 80's. Typically newborns should be between 50 and 70. Still, the doctors did not want to rush to conclusions. Besides, they knew that her DNA was already on its way to Chicago to be tested so we would know for sure soon enough.
By 7 days old, she started having her first blood sugars over 200. However, because she was able to still come back down on her own, the doctors still refused to believe she had the same condition. I finally put a call into the main doctor in Chicago on August 28th and by that afternoon she had her first dose of Glyburide. It would be another 10 days before her genetic test confirmed it but my early instincts had been confirmed. Both of my children had Neonatal Diabetes.
Thankfully we have been blessed with one of the genes that can be treated with pills instead of insulin, so their diabetes is the mildest part of the battle that we fight. There are others we will fight for years and decades to come. I have to admit, there were years when I would be angry at the diagnosis. But now, I see this more as a purpose and a mission. I can see how my background has prepared me to help my children and, I hope, help other parents along their own journey. As we go into another year, I feel like we are beginning a new chapter now, one where we will partner with each other and help others find their way to the best care for their own children and themselves. Whatever that looks like, whatever form that takes, I hope what Dan and I have learned in the last 13 years will be a little bit of a light for your own path.
]]>Eleven years ago we were entering Brenner’s Children’s Hospital in North Carolina to try something relatively new. While Andy was not the first patient in the United States to try it, he was definitely in the inaugural class (we think one of the first 5 at least). For 17 months we had given him insulin shots and hooked him up to an insulin pump to keep him alive. We were prepared to spend a lifetime of checks by blood sugars 8-10 times a day, changing out insulin pumps every 3 days and counting carbs for every single morsel of food that went into his mouth.
When we were admitted to the hospital on that night so long ago, we had no idea what to expect. Our doctor was “cautiously optimistic” that this new treatment would work. But even knowing that it might “work”, we knew we were paving an entirely new path in the medical world. Diabetics, especially those with Type 1 didn’t just come off of insulin. We were, as my husband puts it, a freak show on the diabetic floor. While other patients were being admitted in DKA and being treated with insulin, we were starting with a pill in the hopes of stopping insulin. Being a teaching hospital, we were a virtual merry-go-round of student doctor groups. We recounted our story from the last two years of our life, confirming that there was no family history of this on either side. No, I didn’t have gestational diabetes. Yes, he was exclusively breastfed before the initial diagnosis. And on and on for an entire week.
Now we probably check Andy’s blood sugar once every few months. His last A1c was 4.7% which translates to an average blood sugar (in US terms) of about 88 which is right in the middle of normal. He takes 67.5-70mg of glyburide a day, which is roughly 3.5 times the recommended maximum dose of an adult with Type 2 Diabetes.
We don’t know everything there is to know yet. We still deal with all of the co-morbid symptoms like developmental delays and seizures. Some of those issues have gotten better with time, therapy, and an ocean of patience (at which I’m admittedly not always very good). But if being a pioneer and paving the way for new families (and even his own sister) is our purpose, then we have gladly taken on that role. We will continue to search for new treatments that might make his life easier and help him to be a more functional person. He is such a happy person and is growing into a strong young man. I can’t wait to see what the next phase in his life will bring.
]]>No Adverse Side Effects
Our doctor prepared us for the worst by telling us all of the bad reactions to look for; bad rash, grand mal seizures, and discolored urine, etc. We even received a prescription for ??? to have on hand in case of a seizure lasting longer than 5 minutes. That was the one side effect, out of all of them, that scared me the worst. Just thinking about what I would have to do if that happened, insert a medicine in a place I DO NOT want to see on my 12 year old son, sent me into near panic attacks the days leading up to Day 1.
Not only did I have a prescription in case of emergency, I armed myself with support too. As the kids were off school on that Friday and Monday (Easter Holiday), Dan and I both opted to take a day off work and asked one of our babysitters to come as backup. That Friday, as nervous as I was, we tried to make the day as normal as possible for the kids. We played with the kids, building Lego houses and watching videos. Then because Andy wanted stars, we took a trip to the store. We went to Walmart for his favorite foam stars, then Good Will for some much needed shorts, and an Easter dress for Katie. All the while, I was watching him like a hawk and looking for any sign of a new twitch or an unexpected behavior. Thankfully, it never happened.
Improvements Already?
The rest of the weekend and into the next week, Dan and I watched and waited. We were rewarded, not only with no negative events, but, dare I say, improved behaviors? I know it is way to early to tell, but we almost immediately saw Andy be more calm and less aggressive. He even started talking more and his words were more understandable. At least, that’s what we think we have seen.
The hardest part of hope as a parent, is to have an unbiased opinion. In order to make sure we were getting the most accurate data, Andy underwent some baseline testing on the Thursday morning prior to starting the medicine. We will do some follow up testing in 3-6 months. In addition, only his school director knows he is on the medicine, but we are not telling his teachers yet. That way, we can get some unbiased data from them, similar to a “blind study” in the research arena.
Some of the other areas of improvement I’ve personally seen is cooperation with nighttime routines (taking medicine, brushing teeth, going to bed), cooperation with checking blood sugars, calmer behavior in the afternoons, and even less aggression toward me like pinching and hitting. I did see a little increase in the aggression a couple of days this week, but I was also down with the flu. Sometimes, when mom is down, the kids will try to get away with what they can. But isn’t that just a typical childhood behavior in general? LOL
Affect on Blood Sugar
One side effect we did experience, but were really expecting, was a decrease in blood sugars. The question of, if this medicine is closing the potassium channels in the brain, will it, by default, also close potassium channels in the pancreas, was answered pretty quickly. We checked his blood sugars before every meal, when he got home from school, and any other time he seemed to be acting low just in case. The lowest we have seen so far was a 54. That one happened on the first weekend on Sunday night. We were at the end of a long day, from church in the morning, to lunch and and Easter Egg hunt with the neighbors, to playing outside most of the afternoon. It was after 8:00 when I finally started preparing dinner and Andy started rummaging in the kitchen and trying to grab food from the cabinets, the fridge and even right out from my hands. He kept saying he was hungry and needed to eat dinner. Finally I stopped and realized what must be happening and checked him. He was at 54 so I quickly threw together a sandwich and some grapes so he could eat.
Since then, we have seen a couple of 60’s and 70’s, so we lowered his dose of glyburide by a pill in the morning and in the evening. He has stabilized for now, but we will continue to keep a close eye on that until we are sure he is in a better range. I guess the advantage to him being so stable for the last several years is that he is fully hypo-aware and can tell us he needs to eat when he starts to feel it. That was something we never experienced when he was a baby and on insulin.
Going Forward
We still have two more weeks of increasing and waiting to see if there are any issues. There is still a small possibility that seizures can occur, so we are not out of the woods yet. But with each passing day, I get more convinced this was the right move. We still have a long road ahead of us, but with time, hopefully, Andy can start to learn more skills and have a better future. Isn’t that what any parent wants for their child?
]]>There are two thoughts that ran through my mind when our doctor told us that our son had a rare genetic mutation:
While the answer to the first question may be easier to answer for certain diseases and disorders such as hemophilia and color blindness, others are not so obvious. Does it even really matter? Both of our children have it and while that in itself is extremely rare, it doesn’t change how we treat it or how we go forward with our research. The second question, however, it just a little more complicated.
For many people, when they hear the term genetic mutation, a picture of X-men may come to mind. For others, they may bring up images of two-headed frogs or disfigured children from the Chernobyl accident. But not all genetic mutations are so obvious, and a small percentage of mutations are not even harmful at all. So when a child is born with a genetic mutation that causes a disease, one potential treatment that is being tested with today’s technology is something called gene therapy. Gene therapy, in essence, is an experimental treatment where new genetic material is introduced into the body by the way of a vector, the most common being viruses that have been inactivated.
When a disease is caused by a single genetic mutation, that is, one specific gene has a mutation at a specific location, it is considered a monogenic mutation. This is what our kids have. Their type of diabetes is caused by a single mutation located on the gene that tells the potassium channel how to act. In their case, the channel remains in the open position, where a normal person’s potassium channel will open and close in response to the amount of sugar in the blood stream. Hence the title of this series, Closing the Gap. One thing that has intrigued me through the years of dealing with this is the possiblity of gene therapy. Why can’t it be just as simple as going into the cells and replacing the mutated gene with the correct gene?
According to Gene Therapy Net, there are currently 248 clinical trials for disorders and diseases with a monogenic cause (what our kids have). The bulk of these clinical trials are treating well-known disorders like cystic fibrosis, hemophilia, muscular dystrophy, and severe combined immunodeficiency (SCID, aka “bubble baby syndrome”). There are scatterings of other diseases and disorders, but I doubt ours will be on any doctor’s radar for a clinical trial of gene therapy any time soon. One of the most surprising discoveries I found was that the vast majority of clinical trials are happening in the US alone (over 1500)! While that is encouraging, gene therapy is still very much in its infancy, but at least those big pharmaceutical companies are starting to take notice and put their money into research and development. There are conferences taking place all over the world now with some speakers from well known companies such as GSK (GlaxoSmithKline), Pfizer, and even a division of GE Healthcare.
So maybe we are still years out from being able to use gene therapy for our own kids, but at least science is starting to move in that direction. Maybe one day, I will put my own passion to work and discover a way to join the ranks of the scientists and work toward fixing that gene. Who knows, maybe the future is not so far away after all!
]]>Disclaimer: The information shared in this post is in no way meant to be a diagnosis or treatment for you or your child’s condition. Please know that our only intention is to share our story and help others see how we have advocated for the care and treatment of our children with a rare disease. Please consult a physician for the care of you or your child’s specific condition.
One of the best parts of going to Chicago every few years is learning about new research in the area of Neonatal Diabetes, and last year was no exception. While we were there, attending small group meetings, holding discussions with other parents, and talking to the doctors, we were told about an article that held hope for a small group of patients in our little circle of ND. This article we read basically showed that a researcher was able to close the potassium channels in cells with mutations that previously kept the channel open. What was so important about this was the drug used was an anti-epileptic drug, so by definition, it works in the brain. Up until now, we have been playing a guessing game of increasing glyburide (a sulfonylurea) in an attempt to get a dose high enough to cross the blood brain barrier. We have had some success and seen some improvements in learning, but it’s not as significant as we would hope.
So we came back from Chicago, hopeful that we could get our neurologist to prescribe this new medicine and see if we could get better improvement on it. However, it was not as easy as just showing him the article and getting the drug. While he agreed with the theory, he was visibly uncomfortable with prescribing this drug. You see, the side effects of giving a kid with absence seizures carbomazepine is that it can cause them to have grand mal seizures. Something our doctor, unfortunately, has experienced first hand and he didn’t want a repeat performance.
So we went back and forth with our neurologist, also getting our developmental pediatrician and pediatric endocrinologist involved in the discussion. They were both on board and agreed that, in theory, it should work and the benefits would outweigh any potential, short-term, side effects. There were, of course, other side effects we would have to consider. Because this medicine works on the potassium channels in the brain, would it then also close the potassium channels in the body? And if so, would we have to decrease the glyburide to prevent low blood sugars?
Fast forward to the end of February and Andy had, for the first time ever, a prolonged cluster of absence seizures, one right after the other for over an hour while at school. We ended up in the emergency room, got some blood work done (that was fun with a sensory, non-verbal kid who is 70 pounds of muscle!), and basically got sent home with a rescue medicine in case it happened again. Which it did. And the medicine did not work. So I think all of this prompted our neurologist to decide to try the new medicine. At our recent appointment, he said, we obviously need to make a change in the medicine since he’s having break-through seizures, so “we might as well try it”!
So here we are, getting ready to try this medicine that only 2 (maybe 3?) other children with our same syndrome have been on. There are no official studies to tell us what to expect. We are, in essence, patient zero. We will get some baseline testing done to see where his IQ is, his present levels of reading and math and overall behavior and self-help skills, etc. Then we start the medicine on Friday. If it works, we will possibly start Katie on it too in 3-4 weeks. If not, we continue to search for other answers like gene therapy (not so far off according to this article). Of course, nothing is as cut and dry as we would like to think in medicine. There are so many other factors to consider, so many other variables that we cannot predict. Only time will tell.
The part that is so scary about having this rare disease and being the “pioneers” in paving the way with a potential new treatment is the unknown. I am afraid of him having a grand mal seizure and me freezing, not knowing what to do. I am afraid that I will be biased and think I see improvement, where there may be none. I am hopeful that he will see improvement, but don’t really know what that will look like. I know that it will not be an obvious change like when we transitioned to the glyburide. There will be no celebration moment, like when we disconnected his insulin pump for the first time, declaring success and knowing he would now be insulin free! It’s not going to be like the movie Awakenings, where the catatonic patients all of a sudden wake up and start talking and seeming “normal”. It will be a slow process. But if it makes his life better, it will be worth the effort and the fight we just fought for almost a year to get here.
]]>Out for our weekend drive and attempted to record Andy singing to the songs on the radio. He gets a little camera shy but I caught a little. Such a cutie!
]]>This foundation, based in Utah, helps children overcome some of their disabilities through the use of intense physical therapy. Children often come to their facility for 3 or 4 week sessions of therapy. With 4 hours of therapy for 5 days a week, children can reach goals that would normally take them a year to achieve.
Obviously this can be very costly and insurance doesn’t always pay for all of the expenses. So Jamberry nails has created a charity sheet that will be sold from December 3rd through December 31st. For every sheet of wraps sold, $2 will be donated to the organization. This will be used to help fund grants for families in need of financial assistance to receive these therapies. Please consider supporting this wonderful cause that is close to my heart. I don’t know if this is something that would benefit children like mine, but it may be your child or someone you know that could. Help these children reach their fullest potential.
You may order these wraps starting December 3rd at my Jamberry site. Christy’s Jamicures
Here is a picture of the wraps on hands.
]]>It was maybe just a year or two ago that I started really trying to notice what he was doing. What the autism community calls stimming (repeated self-stimulating behavior), I call him being a mini research scientist! Having that in my bones (and wanted to act on that someday in the future), I started approaching my view through the lens of a researcher. What is he thinking? What is he trying to figure out? What scientific phenomenon is he discovering today?
I think it started with the tower of pillows. Now, he’s been doing this off and on for YEARS! In fact, I remember when he was around 5, we were creating a PECS system of cards for him and the therapist asked what some reward activities might be and building towers of pillows was definitely one he enjoyed. It got its own picture card. He loves piling the pillows up on top of each other as high as he can possibly go, climbing up to the top of the tower and then crashing down to the couch and burying himself in between the pillows. This is what we call in the Sensory world, a seeking behavior. He is seeking heavy input. At times like these, he is in need of the pressure of the pillows around him. Maybe because he is having a hard time feeling where his body is, so crashing into a pile of pillows gives him that input he so desperately needs.
Eventually, he got hurt one time as he grew taller (seriously, what are we feeding this boy? He’s going to turn into the Green Giant!). We put a stop to the towers of pillows because it was getting dangerous. But then he discovered BOXES. Towers and towers of boxes. Now I know that most kids can build towers with boxes and you may be saying what is so special about that? What is amazing to me is that, when the boxes have been played with so much that they start falling apart, he still has some uncanny ability to layer them on top of one another, move them ever so slightly, getting them to balance precariously, just so. And voila, he has a tower of 6 or 7 boxes that would make an architect proud! I mean, sometimes, the towers he makes would put the Leaning Tower of Pisa to shame. Of course, the whole point of the tower is to make it crash, which gives him that “controlled” loud noise that has always brought him so much joy. I love hearing that boy laugh. He has always been such a happy child.
Lately he has been back to doing the towers of pillows again, which is fine by me because I know he is just needing to get some input on his body. He is having trouble with being aware of his body so he needs that to help him feel his muscles and feel where his body is in relation to the world around him. So we let him and just take it with a side of caution, making sure he’s not hurting himself. Maybe it’s because he is growing so quickly right now. We haven’t quite hit puberty yet, but by the way he’s eating, we must be getting close to the raging hormones so maybe he’s feeling a little unorganized or unsure of himself. So the towers are back and he’s as happy as ever with the building and crashing. Hey, at least it helps him sleep at night!
What do your children to for proprioceptive input?
]]>So off we went to a regular speech evaluation, an ADOS (Autism Diagnostic Observation Schedule) speech evaluation, an ADOS psych evaluation and an EEG. Overall, based on my own observations, I thought she had some pretty good imaginative play skills and not a lot of stimming behaviors. While I do see the sensory processing problems with her, I have never thought that her skills were on the spectrum. Ultimately, the doctors decided to go with the diagnosis of ASD and Intellectual Disability. Her Developmental Pediatrician explained to me that, though they know her delays and sensory issues are caused by the genetic mutation, giving her the diagnosis of ASD opens up therapies, grants and insurance payments that might otherwise be unavailable to her. The doctor explained that she has enough of the markers to place her in that category. Of course, as a mother, I had to have my good little cry on the way home from that appointment, but I finally accepted the fact that it does open up services that she needs to move her forward.
As for the EEG, she was having Absence Seizures. The data showed that for the 45 minutes that they were monitoring her, she had several seizures. The doctor agreed that there was enough evidence that waranted her starting medicine. She is now on 4 ml of Ethosuximide (generic for Zarontin) to help control her seizures. We haven’t seen any side effects. One benefit that has been associated with this medicine is that she is finally sleeping through the night almost every night now. Whether or not that is an effect of the medicine, the result of increasing her glyburide, the seizures stopping or just getting older, it’s hard to tell, but we’ll take it!
So to summarize, Katie now has full-blown DEND syndrome, a diagnosis of ASD and intellectual disability. However, we are seeing an increase in her speech and a decrease in her melt-downs, but that is for another post.
What kinds of diagnoses does your loved one(s) have? Were you surprised? Dissapointed? Relieved? Feel free to share in the comments. I love to hear about what other people are going through.
]]>If you are a parent of at least one child on the spectrum or with SPD or motor delays, you will no doubt relate to this story. When I see other children outside playing in their yards or close to home I get jealous sometimes. I admit it would be nice to just tell my kids (much like my own parents did) to “go outside and play until it’s dark”. Alas, this is the world I live in now and that is not my reality. But when you have a nice, 60° cloudless day in the middle of November, you get the itch to take advantage of it. No matter how many times you’ve been battered by the “getting ready monster”, it is easy to forget on such a lovely day.
So as I finished a call to Granny and Pappy, Katie asked me in her cute little voice, “go for a walk?” how could I turn that down?
“Go get your socks and shoes Katie”
“OK” and she starts running around to find her socks and shoes that were discarded earlier in the day.
Five minutes later, we have 2 socks and one shoe. I get up and start searching and finally find the lone shoe on the shelf in the coat closet.
Sock #1
“Katie give me your foot.” (she offers the foot and retracts it just as quickly. This goes on for about 20 seconds before I finally grab the foot and hold it tightly with one hand while I try to wrestle the sock on her foot).
Success!
Sock #2
This time I just grab the foot and hang on for dear life as she plays a “Hoakie Pokie” type of dance with me.
Two minutes later, finally both socks are on. I’m sweating at this point.
Shoe #1
No problems with this one. On in record time with it tied in a double knot. We’re making progress!
Shoe #2
No such luck. I get the shoe on and then the “Hoakie Pokie” leg starts again while I try to tie the shoe.
Five minutes later and Katie finally has both shoes on.
Now I have an even brighter idea! “Andy, do you want to go for a walk?”
“Yeah”
“Go get your socks out of the bathroom.” He runs to the bathroom and grabs his socks. Coming into the living room, he drops them on the floor and continues to play with his balloons.
At this point, Katie pipes up, “Take your shoes off?” and proceeds to take shoe #1 off.
I tell her, “if you take it off again, we won’t go anywhere!” I’m contemplating putting Andy’s shoes on first before trying to fix hers, but I do it anyway.
Ok, Katie has both shoes on.
Again.
“Go get your coat.” I say to her. At this point I put both of Andy’s socks on and his shoes as Katie is running around getting her coat and dancing to the music we are playing.
After 5 minutes of tugging and pulling, pushing and tieing, Andy’s shoes are on and he is back to his balloons.
Now for coats.
Katie picks up her coat and says, “need help please”. I help her into her coat and then proceed to wrestle with her zipper as she leans back, pretending the coat is a swing for her to launch herself away from me. Zipper in (it’s not locking), zipper out. Try again. Zipper in, this time stuck on mismatched teeth. Zipper out. Finally turning her around with her back to me, I successfully get the zipper locked and pulled up.
Is anybody else feeling like this is an aerobic activity just to read the post?
Ok. Finally! After about 20 minutes, all three of us have shoes and coats on and we went for our little walk around the block.
For the most part, it was a nice walk. The kids held onto my hands and I even let Andy walk independently a couple of times. But the walk wasn’t without it’s own comic relief. Several times, Andy decided he was done walking so he just fell out. Just sat down on the ground and refused to move. Oh, for the love of God. You have to laugh so you don’t cry. And to cap it all off, the end of the 25 minute walk, we were “attacked” by a swarm of gnats. Not the best thing for a sensory kiddo like Katie who freaks out about anything that even remotely looks like a fly. Screaming and crying and begging to be picked up ensued.
Was it worth it? You bet! I got in (according to my Fitbit) 23 minutes of physical activity, some much-needed vitamin D, and some quality time with my kids.
Tell me about your own stories with getting your kids ready. I know I’m not alone.
]]>Katie is a whole different animal.
She is 5 years old now and will happily eat cheese sticks, oranges, Cheerios, fish crackers, and certain brands of chicken nuggets (don’t even try Tyson, it immediately goes in the trash!). We have been fighting this battle with her for a good 2 years, almost 3. We have tried bribery (coke or a sweet treat), going to bed hungry, sending her straight to bed from the dinner table and even (gasp!) just giving her something we know she will eat just so we can have a peaceful dinner. Nothing. Has. Worked! I almost fell off my seat a week ago when Dan and I were eating steak and sweet potatoes and she wanted to try some. She ate several bites of steak and about 3 or 4 bites of sweet potatoes.
One thing we have noticed over the last few months is her affinity to dip things into sauces. Another is that she tends to like spicy foods. We have discovered that, while Kate hates hamburgers, she will practically inhale tacos. One night she ate 3 tacos plus the taco meat mixture Andy left on his plate! I think she may also have a thing for rough textures because she will eat toast, but not soft bread. She also has begun to love bacon and eggs (a girl after my own heart). I read an article on Oral Sensitivities recently that said “children with hyposensitivities . . . love and crave intense flavors, i.e., sweet, sour, salty, spicy and usually become ‘condiment kids’.” That along with other symptoms listed leads me to believe Katie has oral hyposensitivity. Some other suggestions from Ark Therapeutic Services mention treatments including gum massages and chew tools. I think I will explore that some more after we get established with an OT or speech therapist.
We still have a long road to travel on this road to eating more. While the doctors aren’t concerned that she is malnourished, it seems to take forever for her to gain weight. She was at 26 pounds for over a year before she finally started gaining weight. It has taken her 2.5 years just to get to her current weight of 34 pounds. We are looking into getting her into feeding therapy soon. But in the meantime, we keep trying and keep offering new foods in hopes that something will appeal to her taste buds. What have you tried with your kids with SPD? Has anybody tried feeding therapy?
]]>The short answer to this question is yes. More specifically, my own children are both verbal in their own way. Andy is 9 now (almost 10) and is echolalic. He has a huge vocabulary including some choice words that we wish he wouldn’t repeat. He gets in trouble for saying those on the bus, even though we have told the aid repeatedly that the more she pays attention to it, the more he is going to do it. We catch bits and pieces of his day as he sits at his computer game and dinner. We will hear snippets of conversations that he overheard throughout the day. Even with all of that, though, he still can’t have a conversation with you. He tries, but when he really wants to tell you something, it comes out all mixed up and nonsensical. It’s frustrating to me as a mother so I can only imagine how frustrating it can be for him.
Katie is totally different. Her speech pattern, according to all of the speech therapists we’ve seen, is following the normal patterns, but at a much slower rate. She is 5.5 years old now and still speaks like a 2 year old. We have been battling screaming with her for nearly 5 years now. She just absolutely refuses to use her words, but we are trying to draw it out of her. When she starts to whine and fuss that she wants something, we try to force her to use her words. Not only that, though, we try to get her to use sentences. Instead of “banana please”, we make her say, “Mommy (or Daddy), may I have a banana please?” We’ve gotten pretty far with that one and she will now say some combination of that, like “Iiiiiii, WAaaaaan banana peas mommy”. Now who can refuse that cute face she makes when she says that right? Overall, Katie has more conversational speech than Andy, but it is still not at a real level of conversation.
The longer version to this story is that the possibility of a baby with DEND syndrome having speech has a lot to do with which particular mutation they have as well as probably a whole host of other factors. From my own conversations with other families, I have noticed, that within the V59M mutation family, the boys, for whatever reason, tend to be more severely delayed than the girls. There is one girl that I know was speaking at two and has no delays in speech at all. There is also a little boy who is just one year younger than Andy who barely speaks at all. There seems to be a range of severity that varies within mutations as well as on the KCNJ11 gene itself. Some mutations like the R201H and R201C families tend to seem like typically developing children but then have some struggles as they get into school and academics. Then there are other mutations, especially within the DEND syndrome family that are so severe, they can’t even walk until much later in life.
Again, this is all just in my own observations, but the frustrating part of answering that kind of question is that there just aren’t enough patients to even to a good study on it. That I know of, there are only about 15 kids in the US with the V59M mutation. With the varying ranges in age, age of diagnosis, age of transition to the sulfonylureas, and just plain variations in the human genetics, there’s just too many variables to tell how much of the symptoms are caused by the genetic mutation and how much the severity of delays are caused by other factors. My best piece of advice for any parent going through the beginning stages of DEND (or any other diagnosis you are dealing with) is to get as much help as you can. Get your child evaluated through the birth-3 program in your state (if you are in the US) and get speech and occupational therapy early.
There is still so much we don’t know and so much research to be done. We are learning as we go, which is the most frustrating part of having a child with a rare disease/syndrome. Often, we as parents know more than the doctors. We are “pioneers” in the new treatment of this rare type of diabetes. We can only pave a path, one day at a time, for future generations. And hopefully someday, I will be able to talk to my children. For now, I’ll settle for this little birthday wish that I received from my sweet husband while I was at work yesterday:
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Yesterday, a documentary was shown on the PBS station in Chicago. It was called Journey to a Miracle: Freedom from Insulin. I have not seen the documentary yet, but I hope that it shows some of the challenges that some of us face, even though we did experience the miracle of taking our son off of insulin at 21 months of age. While I agree that was a miracle, and hope that many more families can experience this same miracle for themselves, we still wait for the other miracles every day. I pray that some day, I will be able to talk to my son in a real conversation. I pray that some day, my daughter will be able to go to college. I pray that some day, my children will experience love beyond our family. But above all of that, I pray that they will live fulfilling lives.
It seems so far off right now, but I can say that there have already been miracles.
Andy became fully potty trained (day time) when he was almost 8 years old.
Katie became fully potty trained (day time) this past summer at 5.
Katie finally outgrew the screaming in the car phase (we’re still working on the screaming at home) and we are able to take at least short trips as a family now.
Andy is now reading site words and counting to 9 independently. He can also write his name with some assistance (holding his wrist, not guiding).
One of the biggest milestones has been reached in just the last few days. I’m almost afraid to write it down for fear he will regress as soon as I type it. Andy has chosen for the last month to not wear diapers to bed. It was a never ending round of washing bed sheets, underwear, t-shirts, and blankets. But he absolutely refused to wear the diapers. And then it happened. {cue the angels singing the “Hallelujah” chorus}! For the last 3 nights, he has been completely dry and slept through the night!!!!!!
What miracles have you experienced lately with your special needs kiddos?
]]>In the beginning when I started this blog, the reason was to spread awareness. I knew that my husband and I became frustrated for years by not being able to find information on the type of diabetes my son had. No matter what search we put in, the information about “babies with diabetes” just didn’t exist. At least not in the way we needed it to. As time has passed, our unique situation has changed and evolved into something we could have never anticipated.
Now we live beyond the “Miracle of Glyburide” which enabled our son, and subsequently our daughter, to live with diabetes free from insulin shots, pumps, multiple daily blood sugar checks and counting every carbohydrate that entered their mouths. After that miracle, our lives turned into a daily struggle. A daily question of what will come next. A day by day account of doctors telling us “we don’t know, you are the expert”.
Amidst all of our day to day struggle, regardless of my lack of posting, I still receive comments from parents who have just had a little one diagnosed and want answers. So I have decided to attempt a site change. I am going to attempt to add pages to the blog and revamp the site to be a diary of sorts. I want to tell our story, but I will save that for the book (if it ever gets published!). What I want this site to become is a place new parents and struggling parents can go to for answers and tips. I have some ideas of what the new site will need to contain but I also need your help to tell me what you want to see or need to see.
Over the next month I will be posting and adding pages. I am also going to rename the blog because it will be more than just about the kids. I want it to contain information for caregivers too. Due to the nature of how rare their particular mutation is, the site will also broaden to encompass other diagnoses. Specifically, I will include research and tips on how we deal with ASD (autism spectrum disorder), SPD (Sensory Processing Disorder), family time with special needs kids and tips on how to organize all the paperwork and therapy tools.
Bear with me as I redesign the site and feel free to comment with your ideas or your own tips.
]]>We are in full -blown potty training mode with Katie now. Our sweet, nearly 4-year-old daughter is starting to go pee-pee and sometimes poop on the potty but still doesn’t quite have the connection to be able to tell us she has to go. It is this lack of connection and, to some extent, her inability to communicate that is causing her to rebel. Katie has an independent spirit which will serve her well in the future. But her need to assert that independence is driving us crazy right now. She doesn’t want to sit in her chair to eat (she’s perfectly fine if she sits on your lap or walks around with her food). She doesn’t want to sit in the car seat and will scream the entire time until she is extracted ( at which point she will greet you with a sweet “hi” and bat her eyes at you as if nothing traumatic has just happened).
I don’t know exactly why this is happening again (we just got done with the 2 years screaming in the car seat jaunt about this time last year). My theory is potty training because it is forcing her to grow up. Of course, it could have something to do with increasing her glyburide dose too. It’s hard to isolate the cause when we don’t experiment in the sterile controllable confines of a lab. My scientific brain is formulating hypotheses while my logical brain realizes there will most likely never be a real answer.
So for now, we wait. We persist through the screaming. We don’t give in to the inappropriate demands of our “Miss Independence”. This too shall pass!?
]]>So I’m on a mission. I want to spread awareness of this rare disease with a “new” life-altering treatment. I am back to working on my book with a passion and will begin sending out query letters to agents very soon. I am also contacting local news stations with our story in hopes of one of them picking it up soon. I think I will also try some other routes of exposure by working on some magazine articles and trying to get them published. I know that just being a blogger doesn’t make me a writer and I’m sure I need a lot of work to turn me into a true writer. But I also know that with enough passion and a loud enough voice, our story can touch the lives of families throughout the world.
If you would like to help me spread the word about this very rare but important disease, please comment, tweet, or post this on Facebook. Together, we can change lives.
Here is a link to the recap of the conference in Chicago. http://kovlerdaily.com/2013/07/celebrating-miracles-milestones-a-recap/
]]>So this summer with the 4th birthday looming, we decided to try full force again. We are finally seeing some progress. She is now consistently going right after breakfast and about 3-4 times a week after lunch. Other times during the day, she may sit on the potty and occasionally does something. The biggest barrier we are seeing with her is that she does not quite have the connection of the feeling before it happens. That is something that will just have to come naturally and we can’t force it. If anyone has any suggestions on how to move forward in this aspect, please share in the comments.
]]>Me: After the last conference (July 2010), we increased Andy’s dose to the equivalent of 12 pills per day. He was on the 5mg pill of glyburide 3 times per day. We increased Katie to about 1.5 pills (1.25 mg dose) per day. Katie was on track for development and we were starting to see marked progress in Andy’s skills. He was almost fully potty trained, could write almost his full first name, and was starting to initiate conversations.
Dr. H: What caused you to decrease the dose so much?
Me: Both kids came down with a bacterial infection at the same time and were treated with Amoxicillin. Both of them had such extreme hypoglycemia that we stopped glyburide altogether for Katie for 5 days and Andy for 3. After that, they were so sensitive to the glyburide that we only slowly increased. Katie ended up back on a suspension until last summer and Andy is only on 2.5 pills of the 1.25mg dose per day now.
Dr. H: It’s not unusual to see lows during an infection. In fact we see that a lot in ND patients on sulfonylreas. It seems that either the infection itself or the antibiotic tends to extend the half-life of the drug which is about 36 hours. So, in fact it will take several days before you will see a rise in blood sugars. But once the infection is over, you should safely be able to return to the previous dose.
Me: But what about the hypos? It seems like they were super sensitive to the glyburide afterward.
Dr. H: I think you have got to change your mindset from a Type 1 Diabetes mindset and just rely on symptoms alone. Many of our patients in the UK hardly check blood sugars anymore. They rely on their symptoms alone. If they “act” low, they treat the low. There is enough evidence now and enough time behind our research to prove that ND patients are not going to have a severe enough low to send them to the hospital. In fact, there is so much more advantage to higher doses, especially in the kids with developmental issues that it’s worth increasing to the highest dose they can tolerate. There will be a point where the blood sugars will stabilize so much that the glyburide will have no affect at all and you may even see an increase in the A1C at that point. You have to remember that the glyburide is just letting their cells do the work it is already designed to do. You need to try for the sake of their development.
Me: (hesitantly) ok, we’ll step it up. I’ll try not to check so often.
So Monday I started the increase. Andy is now on 1.25mg with Breakfast and lunch and 5mg before bed. So far the lowest number I’ve seen is a 90. Katie is on 1.25 with breakfast and .625 before bed. She did have one symptomatic low of 54 on Monday but it wasn’t bad. It was just a little whining and clammy palms but it was time for lunch anyway so she was fine.
Already the teacher commented that Andy was more calm and focused on Wednesday. Hoping to see some great results. Updates to come.
]]>Her bus driver and I had a hard time trying not to laugh. She was so cute. This little bitty girl, barely 3 feet tall, trying to climb stairs that start almost at her waist. Holding onto the rail, she valiantly moved up each one to the top. The smile on her face when she reached the top and turned around to say good-bye made my heart sing! My little girl is growing up and she can do it all on her own.
I guess it sounds silly if you have never had to deal with the heartbreak of a special needs child. But those of you who have will understand how significant this little victory is for our family. Up until very recently, Andy has been content to just let the adults in his life just do things for him. I guess we’ve been enabling his helplessness a little by underestimating his ability.
But lately, Andy has started to take control of his world in small steps. For instance, tonight at shower time, he demonstrated a desire to wash his own hair and body. Then he wouldn’t let me dry him with the towel. Instead, he yanked the towel out of my hands and declared “Andy Do It”.
I am starting to see my babies grow in independence and have a desire to do things on their own. It gives me hope that they will be able to live independent lives some day in the distant future. Isn’t that what we all want for our kids?
(Side note: this post was actually written back in April or May and I just forgot to post it. However, I felt it was a good testament to their learning progress so I wanted to post it anyway.)
]]>Last year at this time we were very discouraged and at a loss for what to do. You see, Andy was sort of potty trained at around 5 years old but had some regression once he started having his absence seizures. Potty training with him has been a VERY LONG ROAD.
Like most parents, we started putting Andy on the potty soon after he turned two years old. At that time, we were just beginning to learn about his delays and navigate the ins and outs of IEP’s and therapy. Andy truly had no interest in potty training and was unfortunately one of those babies that would happily play all day in a dirty/wet diaper until an adult initiated the change.
For three summers and off and on during those school years, we would attempt anything from just sitting on the potty every so often to full fledged elimination records. In all honesty, we would just get exhausted and give up because Andy just really didn’t care one way or the other. It was finally in the summer of 2010 that we started having some success. That summer, we were able to qualify for a home care giver who came to work with Andy for 14 hours per week. There were two young ladies who came almost every day to work on skills with Andy and on the top of our priority list was going potty. As a bit of luck, we happened to be living in Wilmington, North Carolina at the time and we had a small 3 foot pool outside of our back door that summer. It just so happened that Andy absolutely fell in love with “swimming” in the pool so we used that as a motivator for going potty. That, along with going to only underwear and some other motivators brought us to being “potty trained” by the time he started Kindergarten that year in August.
Of course, I put it in quotations because I am now able to see (looking back) that Dan and I were the ones who were trained, not Andy. We had to keep in our mind at all times how long it had been since he had last gone in the potty. We had to remind him, take him, help him with every little step. He still had a few accidents at school and was still not able to articulate accurately when he felt the need to go. Still, even as we moved to Seattle, there were successes. I remember him successfully going while we were on the plane, several times in the hotel we stayed in and even once in a park restroom while we were looking for an apartment to live in. Granted, during that transition, we would put his underwear on with a pull-up over them, but he was still staying dry most of the time. He even stayed in underwear throughout Kindergarten, but it was half-day and I would still put a pull-up on him during “quiet time”.
It was in January or February of 2011 when he started to regress at the same time as he started having his seizures. We tried, unsuccessfully to keep him in underwear during 1st grade. He was just having too many accidents for the school to be comfortable so we grudgingly obliged them and went back to full pull-ups. Last summer, I was determined that we would be successful and I went full force during August. We gave M&M’s and took him to the potty several times a day, no pull-ups, and made him clean up his own mess when he had them. By the time school started in September, he was able to stay dry all morning and would try sitting on the potty in the afternoon, but refused to go at school. As luck would have it, he had learned to hold his bladder and hasn’t had too many accidents this year.
Even with all of this success, an adult still had to remind him to go potty or ask him if he had to go. We had him on a regular routine, first thing in the morning, trying to go at school, as soon as he gets off the bus and just before going to bed. Occasionally he would tell us he had to go potty, but we still had to take him and he still had accidents. Then in February, I decided to try the Gluten Free/Casein Free diet I had heard so much about over the last several years. We had tried some foods just to see if he would eat them and we had talked to his doctor who suggested to try it and see if there was any difference. In the first week, Dan and I reluctantly agreed that he was just a little more calm.
It was during the second week on this diet that Andy started going to the potty on his own. I mean REALLY on his own. I came home one Thursday afternoon to find Katie running around with something from the bathroom and Dan sitting in the recliner. I found Andy in the bathroom, on the potty, pants and underwear pulled down, doing his thing. When I asked Dan how long he had been on the potty, he told me he had not put him on it. JAW. ON. FLOOR! Skeptics that we are, we were afraid to celebrate. But when it happened again the next day and twice on Saturday, we started to do little dances of joy. Andy is finally able to feel when he has to go and can physically go on his own, open the door, and complete almost all steps by himself. We hardly ever have to remind him and he has only had 2 accidents since February, once when he didn’t get a chance to go as soon as he got off the bus, and once when he drank a lot of water at school and lost it on the bus. It’s not perfect, but I feel like we can finally move on to other skills now like wiping and snapping/zipping his pants which is a fine motor issue that may take a lot of work. Now to work on Katie. Our goal is to have her trained by her 4th birthday this August. At least she shows some interest and can tell us when she’s wet or dirty. I feel like that’s half the battle.
Now, any suggestions on night-time training? That’s a whole other story!
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So come along with me and reminisce about our highs and lows with this rare disease. It doesn’t always kick our butts. Sometimes there are sweet moment with my 2 sweet babies.
]]>I don’t actually remember the whole process with Andy. I just remember we threw all the bottles away one day and switched him to sippy cups. I’m sure he was just as mad about it as Katie is right now, but I guess time erases the screaming fits from your memory so you don’t remember the bad times quite as much. My concern with this whole transition of course has the added worry about blood sugars. As much as my logical part of the brain keeps telling me she’ll be fine, there is still the nagging “what if she has a low blood sugar?” part of my brain keeping me from throwing ALL of the bottles away. So 5 hours into the cold turkey day, I sit here blogging about it, with earphones in so I don’t have to listen to the blood curdling screaming because she is so mad that she can’t have a bottle for nap time. This too shall pass and she will eventually transition to the sippy cup when she figures out there is no other option. Oh, God give me grace to make it through the next few days.
Note: By the time I had finished writing this post, she had fallen asleep. All is quiet now in the house
]]>Anyway, I digress.
So he is now sleeping in bed with daddy and has his “Dexie” in the pocket of his cargo pajama bottoms. I have not heard any alarms, but it’s only day one. Tomorrow will be the real test as we begin the new ADHD medicine. We have decided to try Focalin as this has been successful in another child with the same mutation. We are starting low so we can increase slowly. I don’t really anticipate any drug interactions, but I am worried about the side effect of decreased appetite. That’s not a good side effect for a kid who is already a picky eater. Tonight at a blood sugar of 72, he did not want to eat the sandwich offered him. I thought I had done a pretty good job of hiding the carrots in between the pork (which he loves), and two pieces of WHITE bread, but he discovered them. I ended up folding the sandwich over on itself, smashing it as flat as I could get it, dipping it in ketchup and bribing him with Doritos to get him to eat! At least he was laughing through the whole thing so I just couldn’t get mad at him. We were all giggling by the end of dinner
Now to bed. I did give him a half dose before bed and I’m crossing my fingers that it’s not too much. I don’t usually check him anyway before dinner and always give him a full pill so I don’t anticipate too much trouble tonight. It will be interesting to see how he fares overnight as I haven’t checked him at night in over 3, maybe 4 years! Hoping for the best.
]]>Andy has once again added something to the mix of his symptoms for us to dig into. Back in February when he was having those bad lows, I started noticing some unusual behavior. He would just stop all of a sudden whatever he was doing, stare into space and his eyelids would flutter. This all would take place within about 5-10 seconds and then would be over as fast as it started. The first one happened when he was having a low so I thought it might just be a reaction to his low blood sugar. But when it continued to happen off and on at varying times, I started to get suspiscious. One day, I happened upon a documentary while channel surfing called “Autistic-Like” and many of the symptoms of this little boy were very similar to Andy. When they mentioned having an EEG and finding out that he was having Absence Seizures, the light bulb clicked over my head. As I listened to them describe what they saw as the EEG recorded the seizures, it sounded just like what I had been seeing in Andy. Since Epilepsy is part of the syndrome he has (DEND syndrome) it has always been in the back of my mind, but I always just equated epilepsy with the grand mal type of seizures that were very obvious. I had never heard of any other kind.
So I put on my research cap again and got down to finding out as much as I could about it. When he had his yearly check-up in April, I mentioned it to the pediatrician. She said it wasn’t an emergency, but that we should get it checked by the neurologist when we see him next. I’ve mentioned it to our Neonatal Diabetes support group and got a few other parents responding that they have seen and/or been diagnosed with varying types of seizures. So now, we are checking into it. The neurologist told us that we needed to do an EEG to get a better picture of exactly what type of seizure activity he could be having since the treatment for different types can actually make one worse if you get it wrong. So off to another test we go. We are scheduled for Monday right now, but it may change as I have to coordinate with dear hubby with his job. I also think he would be better as a support for Andy during the placing of the probes as he is much better at calming Andy down. I’ll update when I can.
We are also starting Andy on some medicine for ADHD tomorrow. After a year in Kindergarten and a discussion with the IEP team and all of Andy’s doctors, we have decided it is time to explore some medicine to help him calm down a little so he can focus. Of course, with Andy’s reaction in February to the amoxicillin, the endocrinologist is very cautious about trying any new meds. I’m a little scared too so we have decided to get him hooked up to a continuous glucose monitoring system (CGMS) for about a week. It’s a pretty small sensor, but we do have to go to the clinic for the nurse to insert it somewhere on his body. Andy hasn’t had anything permanently attached to his body since he was 21 months old so I’m curious as to how he will react. He’s now 20 pounds heavier and much more muscular so I hope it won’t be too much of a struggle. But it will give me peace of mind and that’s the most important thing.
With all of that going on, we are also finally starting some speech therapy for Katie. It’s actually a class we are attending for 8 weeks this summer so I’m hoping to learn a lot. Luckily, they were more than happy to have Andy join in and yesterday’s class seemed to go well. At least the kids group leaders didn’t have to come get me in the middle of class, so I’m thinking that’s a good sign! We are also attending a playgroup on Thursdays for toddlers. Katie has been going for 2 weeks now and is doing well and the great ladies at the hospital agreed that Andy could come in too. Today will be the first day for that. We’ll see how it goes. The main think I worry about is his size compared to the toddlers in the class. Hopefully he can behave and maybe even learn a few things about social interaction. Say a prayer for me to have patience.
Summer Has Begun!
]]>I think the first thing that jumped out at me is that there are SO MANY of you out here in the DOC. I knew of and followed many of the parent blogs, but had never really read a lot of the patient blogs or those with Type 2. I learned I am like many parents in nicknaming my kids and I have the same hopes and fears. I have learned that technology has come a long way since my son was on the insulin pump and there are even some patients out there who have new islets.
What I have learned most of all is that everyone in the DOC is welcoming and supportive. I see a community who learns together and bonds and connects so that we can all have a better life for ourselves and our children. While I don’t see a cure coming immediately (especially for my children’s rare genetic type), I don’t know their future because we are setting the precedent. I will stay an active part of the DOC as long as I can and hope upon hope that others can have a better treatment like the miracle we received or that we can see a cure soon.
Thank you Karen for connecting all of us this week and last year. I look forward to participating again in the coming years and following as many stories as I can.
]]>Since I’ve never shown many pictures of Andy as a baby, I thought I would take the opportunity to do this for today’s topic. I was recently working on Andy’s baby album and I’m always struck with very strong emotion when I see those pictures. He was so sick those last few weeks and we don’t have a lot of pictures. The ones we do are not a pretty sight. It just makes my heart hurt to think he was fighting for his life and not even the doctors recognized it until it was almost too late. So here is Andy’s story in pictures.
This picture was taken when Dan’s two sisters and niece came to visit us in Mississippi. They were with us for the weekend, but by Sunday afternoon, I knew something was very wrong with Andy. Notice how skinny he was. I tried to find the pictures taken in July when he looked so healthy but I haven’t loaded them to my computer yet. By my estimation, he had lost about 3 pounds. You can also notice how he couldn’t hold his head up (something he was able to do just days before).
Andy was on MDI from August until April. We just were having too many extreme lows and highs and were struggling with measuring out 1/2 units of insulin that would bring him down 300-400 points. He started his pump the week before his 1st birthday. He was a much happier baby after that. His blood sugar wasn’t perfect, but the lows almost completely disappeared and the highs were more in the 200’s when he had them.
After Andy’s DNA test came back in January 2007, we admitted him to the hospital to try the glyburide. It was more of a precaution just in case of emergency. I believe Andy was one of the first 5-10 patients to transition off of insulin in the US and the first in North Carolina. He was at Brenner’s Children’s Hospital for 5 days and by the 3rd day his insulin pump was totally disconnected. That was January 24, 2007, exactly 17 months after his first insulin shot. (BTW, that’s a diaper we wrapped around his hand so he wouldn’t play with his catheter. It’s the only thing that worked )
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Where do I begin? I think the most awesome thing diabetes has brought to our lives is the extended “family”. Our family had the privilege of traveling to Chicago last summer where we got to meet many of the families who have experienced this little miracle of coming off of insulin. After several years of feeling alone, I was desperate for more answers and connections when I was pregnant with Katie. I had a sneaking suspicion we were traveling down the same road with her even before she was born, due to her dropping percentage of weight in-utero. So I became proactive and finally looked up the doctors in Chicago. I contacted them and they told me they had a registry for Neonatal Diabetes so they could connect the families as a support group. I missed out on the London conference in July of that year (because, HELLO, I was 9 months pregnant!) but I was able to connect and talk to many of the moms through e-mail and Facebook. When we finally met in Chicago, it was like attending a family reunion. Most of us already knew each other and our respective stories and those we didn’t know, we quickly became close friends. I hope we can repeat the experience someday in the future. We still keep in touch, some even by phone now (thanks Alissa and Angela ). We continue to add new families to our little group and I am happy to say that I am an international traveler now (well, by internet anyway, LOL). Hopefully, in the future, I can meet some more of my international friends in person.
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