We have had such a busy and incredible summer. So busy in fact, that I did not create one post on this blog! It’s hard to believe that Weston is starting school this week and the summer is over. So in these last few moments, we will be soaking in the sun and the fun, and reflecting on this fantastic summer. Here are some of the highlights: We attended the 18th Family Café Conference and Governor’s Summit on Disabilities in Orlando, and what a wealth of resources and connections for Florida families! My incredible family and friends came over and helped us cover all the great informational sessions that were happening simultaneously (these ranged from disability scholarships, assisted mobility, iOS accessibility features, tax benefits, IEPs, advocacy, and so much more). We heard a panel addressing Florida’s forward momentum for disability support, led by Governor Rick Scott, State Senate Majority Leader Bill Galcano, the Agency for Persons with Disabilities, the Florida Department of Education, and the State Surgeon General. I had no idea that this event even existed, and we were thrilled to participate and walk away so much more informed and prepared for the next steps in life. Following the excitement of the Family Café, we participated in the events leading to the Port Canaveral Cove Merchant’s Association Mac Attack Fishing Tournament This year, the CMA chose to use the tournament proceeds to fund Curren’s participation in a specialized intensive physical therapy program at Ability Plus.My employer, BRPH, was a sponsor for the event and funded two boats to participate in the tournament.Despite tough weather conditions, the tournament was a great success. Curren will be starting the Intensive Physical Therapy Program in September, where he will spend 3 hours a day every day wearing a dynamic soft orthosis suit and work on muscle strengthening and active functional movements. At the conclusion of the 3 week program, we expect to see huge gains in hopes of Curren becoming independently mobile. We cannot thank the community and the CMA enough for coming together and supporting Curren in this incredible opportunity! The boys also had their first horse riding lessons (or horsebacking as Weston calls it). Curren participated in equine assisted therapy, where he rode a horse with two side walkers holding on to his waistband (just in case he lost his balance). The repetition of the horses stride is calming, and absorbing the horses movement strengthens core muscles and increases balance. Curren has fallen in love with horse riding, and all the sweet staff at Walk on Water. I highly recommend equine therapy to anyone with developmental delays, physical disabilities, or autism. Curren is building a large collection of adaptive tools and equipment at home. We installed a little ceiling mounted exerciser called a Merry Muscles in our living room, and Curren loves to jump and spin around in it. We also got a really exciting mobility device called the Upsee, which lets children with motor impairments stand and walk with the help of an adult. It’s a harness system that attaches to my feet and hips and let’s Curren see the world standing up. We also started see a new orthopedic specialist, who fit Curren with AFO leg braces to give him more stability when standing. He was not a fan at first, but he is doing so incredible with this additional support now! Our living room also has several new “furniture” additions – a chicken and an elephant from bobles, a Danish product line aimed at stimulating imagination and developing motor skills. We are also anxiously anticipating the arrival of Curren’s wheelchair, which should be coming in the next month or so. And now, for the changes on the horizon! Curren will turn 3 next month, and will be phasing out of the Early Intervention program. I cannot say enough incredible things about our experience with Space Coast Early Steps. My heart is just overwhelmed with the support that has been provided to Curren by our team of therapists, the local community, and our Early Steps case manager. The experience that Early Steps provided Curren has built a solid foundation and has honestly changed Curren’s trajectory in life. As sad as we are to close this chapter, we are thrilled to have Curren start in an Early Exceptional Learning Program at a local public school. He will be attending class 3 days a week, and will get additional therapies at school.
We are also preparing for an upcoming trip to New York, where we will meet with the senior author of the most recent HIVEP2 medical publication. We are hoping to learn more about HIVEP2 and how we can further help Curren. We can't wait to see what Dr Chung can do for Curren - she seems like a truly incredible doctor! I hope that everyone is (mostly) ready for school and has a wonderful fall! It’s so sad to see summer come and go, but the future is looking so bright!
3 Comments
-Climb mountains not so the world can see you, but so you can see the world-
Today Curren had his 6 month recheck with our local geneticist. This is the first time we have been back since we received Curren's HIVEP2 diagnosis. I think back to those first few weeks that were spent trying to wrap our heads around the information we received, and I quickly threw together a post describing everything I knew at that point (which was not much at all) - without a plan, but hoping to get something to stick. We were given a diagnosis that only 3 others in the world had, and none of our doctors were even familiar with the gene. I scoured every PubMed article I could find that seemed relevant, and blasted emails to dozens of doctors and researchers each weekend. I felt guilty as I mourned the loss of the child I had imagined, and tried to cope with the reality of our situation. Today has a very different perspective. It feels like we are light years from that moment 6 months ago. We have accomplished so much in such a short period of time, and the future is looking bright. My mind is blown at these incredible advocacy milestones that have all happened in a matter of months. Curren has been medically published, we have 2 amazing community fundraisers going to support HIVEP2 children, I have found 2 other wonderful mom's of children with HIVEP2 disorder, we have an incredible research-driven doctor starting biological lab studies on HIVEP2, Curren's story was published here and here and here, but best of all Curren is healthy and happy and loved so dearly! Thank you to everyone for all the love and support. We really are climbing mountains and getting a better view (and starting to stand on our own with very minimal assistance from dad!) I can't believe it has been almost 2 months since Rare Disease Day, and I really can't believe how much has changed in just that short amount of time. About a month ago, I was checking my weekly notifications from PubMed. I have alerts set up for keywords relating to Curren's disorder, and on this particular day, something very exciting that never had happened before happened. There was an alert for a medical publication using the keyword "HIVEP2". My heart actually stopped beating for a few seconds as read the name of the paper, "Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features". Were there other children that had been found? Is there active research going on? I quickly scanned the document and found three incredible and somewhat unbelievable things:
Our advocacy journey has catapulted from next to nothing, to phenomenal (given the context). I was able to contact and discuss Curren's case with Dr Wendy Chung, the senior author from Columbia. We were also accepted into a study called the Simons VIP (Variation in Individuals Project), that aims to collect natural history information for families with specific genetic changes that have a known association to neurodevelopmental disorders, like seizures, developmental delay, and/or features of autism. We are hoping to get enough families enrolled in the study to begin lab studies specific to how HIVEP2 works. Curren has also just been accepted into another study through the University of Groningen in the Netherlands. The project is working to gather information from parents to better understand chromosome 6 abnormalities, including gene mutations. We also found out that a 10th child was diagnosed with HIVEP2 dysfunction last week (this is outside of the 9 published children). We have also had some incredible support from the local community. The Cove Merchant's Association is hosting the annual Port Canaveral Mac Attack fishing tournament on Saturday June 18th, and they have decided to donate tournament proceeds to Ability Plus in Melbourne to sponsor an intensive therapy program for Curren and to help other children in need. Also, Curren has created some bright and beautiful artwork, and my wonderful friend Amy has designed special Jamberry nail wraps from his work! Our friend Ryann also has a beautiful and fun bubble design. These two special edition Jamberry nail wrap collections are bold and perfect for summer, and proceeds benefit HIVEP2 support. We also recently attended a wonderful event, hosted by Ability Plus and No Limits Academy - the Everyone Can Dance Ball. The resources that these organizations provide to the community are incredible, and we are so blessed to be part of their village. All of Curren's therapists danced with him and everyone had a blast. Here are some of my favorite pictures, wasn't he so dapper? I had no idea that we would come so far in such a short period of time, and it's hard to imagine what the next few months may have in store. I am so grateful to everyone that is rooting for Curren and keeping us in your thoughts and prayers! The Rare Disease Day 2016 slogan ‘Join us in making the voice of rare diseases heard’ is a charge for everyone to join the rare disease community in making known the impact of rare diseases. I am happy to share Curren's story, in the hopes that his voice helps to bring about change! Curren’s first few weeks of life started out calm and beautiful. But he caught his first cold when he was 6 weeks old, and was perpetually sick for the next year and a half. We went to the ER at 4 months old due to respiratory distress. Shortly after, Curren was diagnosed with failure to thrive due to weight loss. Over the next few years, Curren’s growth and development remained stagnant as we desperately tried to pinpoint the reason behind his delays and regressions. We experienced incredible highs and heart-breaking lows, but mostly we felt isolated and alone. Eventually we arrived at an answer. Curren has a single-point mutation in the HIVEP2 gene that is predicted to affect brain growth and development, immunity, hormone production, and bone remodeling. There is one other child in the US currently known to have a HIVEP2 loss-of-function mutation - our friend Ryann. Because our voice is so small, we have not found much in the way of understanding our diagnosis, or possible treatment/management options. We have no information about prognosis. The response from most doctors or programs is one of two: (1) You already have a diagnosis, we are here to help the undiagnosed, or (2) There is nothing more you can be doing to help your child. I can't accept the second response.
I have been doing research on the HIVPE2 gene function, and have found affected pathways that are also compromised in more well-researched syndromes that currently have treatment trials underway (Phelan-McDermid Syndrome SHANK mutations and HIVEP2 both affect SSTR-2 function, Rett Syndrome gene mutations and HIVEP2 both upregulate the NF-kB pathway, increased MGluR5 signaling is common to both Fragile X and HIVEP2). My biggest hope for the future is that a more comprehensive approach can be taken with rare diseases. What if one of the treatments for a more well-known disease could benefit Curren and Ryann (and possibly many others)? I spoke with the doctor overseeing the Phelan-McDermid and Autism Specrum Disorder IGF-1 clinical trials regarding the common pathways I had found, and if he thought that IGF-1 treatments might benefit Curren. The response was that it was likely, but we don't meet the criteria for any of the trials, and the IGF-1 treatments currently cost over $100,000 a year. I am in awe of the advancements in the field of clinical and scientific research, but I wish there was a quicker way to apply broad findings to specific cases. It is heartbreaking to see Curren break down in frustration due to his current limitations with communication and mobility. I want so badly to give him every opportunity to be able to express himself and move independently. My mission is to keep my son happy and healthy, and I believe that will be best achieved through accelerating research and raising awareness. My hope is that World Rare Disease Day brings a new level of awareness to a critical issue. More people are affected by Rare Diseases than cancer and AIDS combined, but many with Rare Diseases have no resources, support groups, or research opportunities. Please help Curren's and Ryann's (and all the beautiful others) voice be heard by sharing our story! Like the Morrissey song, I wish every day was like Sunday. I love making peace with the chaos that the week before has left. It has been such a beautiful day today - windows open, listening to Billie Holiday, getting lots of smiles from the little guys. If I had a chance to pause life, it would be right now - to soak this face in forever: So a few weeks back, we attended the ribbon cutting for an adaptive cafe at the UCF campus. The cafe is collaborative effort between Cole Galloway and Dr Jennifer Tucker, the team that created the UCF Go Baby Go program that built Curren's super cool car last year. It provides physical and vocational therapy for people with mobility challenges by incorporating a specially designed harness system that allows workers to move and function freely. We were asked to bring Curren to the ribbon cutting, to demonstrate the infant harness system, and were honored to be part of the event! Curren's brother and cousin came along to cheer him on, and it was so wonderful to see him at eye level with his peers. The harness allows him freedom and support, but most importantly brings his social experience and personal interactions to a whole new level Thank you UCF and Cole Galloway for your pivotal efforts. I can't wait to see the harness system used everywhere! Curren is also doing lots of new, exciting things. He has starting waving hi and bye again, and he is doing lots of mimicking and imitation right now. He is working so hard, and making promising gains. All these wonderful people that are part of our team are helping Curren to be his very best, and it's pretty awesome! This weekend, I attended a special education conference hosted by Brevard Public Schools and the Interagency Council of Brevard. I was super impressed by the amount of resources available and the quality of information presented. We connected with a few wonderful people, and received lots of helpful tips. The keynote speaker, Ashley McGrath, was especially impressive. A young woman with a rare genetic disorder affecting her bones and muscles, Ashley shared her story about constantly defying odds. Her autobiography, UnabASHed By Disability, is available for purchase on amazon (I ordered it last night and am really looking forward to reading it!) As February draws to a close, a very exciting day is right around the corner. A rare day of itself, February 29th is World Rare Disease Day. The main objective of Rare Disease Day is to raise awareness among the general public and decision-makers about rare diseases and their impact on patients' lives. Here are some staggering facts about rare disease. *Rare diseases impact more people than cancer and AIDS combined I would love to see Curren's friends showing support for him and all others fighting rare diseases! Global Genes has some great social media graphics, I've included some of them at the end of this post. The World Rare Disease Day website also has some wonderful information and personal stories of those fighting rare disease (Curren's story is included on their website!) Thank you everyone!
The past 3 weeks have brought lots of new and exciting changes. We did intensive movement therapy last weekend, and are now seeing a very noticeable difference in Curren's motivation to move. He went to the Connectivity Center in Melbourne for Anat Baniel Movement Therapy (ABM therapy) in the morning and afternoon for 3 days. The therapy was different than anything else we have tried - it was very much on his terms. So he decided what he wanted to do, and the therapist helped facilitate the movement. The philosophy is that the movement becomes more hard-wired in his brain if he is the one that initiates it. So overall, lots of kneeling, reaching, rolling, and scooting through play - with an emphasis on posture and body placement. Curren worked so hard and we are very proud of him! For the first time, he is now consistently pushing up from his tummy to hands and knees, and the sitting down. This is huge, as he had always been stuck on his tummy (which caused lots of frustration!) Curren is also making great progress with his goals in his traditional therapies. He is making new sounds at speech and becoming really fantastic at mimicking. He has been working in the spider suit, which is a belt and bungee system that provides enough support for Curren to stand and bounce. He has been working on various activities in the spider suit with a rope in front of him - unclipping clothespins, throwing a ball over the rope, and hanging on for support while jumping. He was also trying to say "up" when he was throwing the ball. Working on PT, OT, and ST all at once! We also just started new therapy at the Scott Center. It's called Applied Behavior Analysis therapy, and we are going to focus on communication, expression of wants/needs, reducing distractions, and overall socialization. His therapists seem very sweet, and Curren really seems to like them a lot. His weeks are pretty jam packed with activities now, but all of these services seem to be making gains in forward progress, and we are so thankful for all of the help that Curren gets. It was almost 3 weeks ago when we went to Kennedy Krieger and the Children's Hospital of Philadelphia. (And I am so glad we're not up there right now in a bliazzard!) It was a super busy trip - we stayed in 3 different hotels over 4 days. Curren was a rock star the whole trip. He was so happy, and loved everything - the plane, the elevators, the hospitals, and the arctic-freezing cold air. The best part about the trip was the wonderful people we visited with. There is only one other child in the US currently known to have a HIVEP2 mutation, and we were so fortunate to meet her and her sweet mother. It was helpful for me to find another on this journey that feels overall rather lonely. In the context of things, our children are one in a billion, and it's not easy to spark medical interest with those odds. Needless to say, the visits with the doctors were not what I had hoped for. I was impressed by the effort Kennedy Krieger put forward. At one point, there were 5 doctors in our room, listening to me trying to summarize a medical record that is thousands of pages long in 15 minutes. We found out there are structural abnormalities in Curren's brain they observed by reading his MRI from when he was 9 months old. He has a thinning corpus callosum, which connects the left and right hemispheres of the brain, and delayed myelination (immaturity of the plasma membrane that allows nerve impulses to move quickly). This was really about the extent of the beneficial medical information we got from our trip. The other really wonderful part of our trip was a visit with a very old family friend in Philadelphia. We visited with a beautiful soul who played an important part in my childhood, and I haven't seen her in over 20 years. It is so great to have those people in life where decades can go by, and yet it feels like time has stood still when reunited. It was truly amazing to see our old friend. The director of clinical genetics at CHOP told me something that put things into context. She said that Curren is a pioneer, and is just writing the beginning of the story. When we got a diagnosis 3 months ago, I started a crazy midnight googling effort. I have reached out to over 50 different doctors, hospitals, research programs, and clinical studies. We got appointments with 2. We have been rejected time and time and time again. When I got some interest from someone followed by a rejection, it shattered me each time. I had hopes that there was some type of medical intervention that I didn't know about that would improve Curren's life. I am realizing now that there is just incredibly limited information available about this gene and the effects when it doesn't work properly. A rare or orphan disease is defined by a condition that affects fewer than 200,000 people in the United States. Right now, HIVEP2 mutations affect 2. We are dealing with an ultra-ultra-ultra rare disease, and there is simply a lack of information available. It's not the answer that I hoped for, but I am at peace with it (and that was not easy). I am going to focus my energy on what I do have control over - providing quality therapies, feeding this baby uber-nutritional food, living in the present, and celebrating the awesomeness that Curren is!. Love this boy! It's hard to believe that it is now 2016. What a whirlwind of craziness 2015 was, and it has come and gone. Personally, I was not a fan. I mean it was hard to beat 2014 - new fantastic house, new adorable baby, 12 week maternity leave to hang with my kiddos - but 2015 wasn't even in the running. I feel like we were pretty much stuck under a dark stormy cloud the.entire.year. I am so looking forward to a better 2016, and we're starting off with a bang! Tomorrow we leave for our first big medical adventure up north. We will be seeing several of the doctors that contributed to a recent HIVEP2 medical publication at Kennedy Krieger. We will also be meeting with the director of clinical genetics at the Children's Hospital of Philadelphia. I am super excited (and nervous) about the trip, and really hoping to get some better insight into Curren's care and treatment. I'm also hoping that Curren doesn't get sick from the planes and hospitals, that we don't freeze to death (the low is 16!), and that I can accommodate Curren's gluten-free/dairy-free diet while we travel. I also wanted to share a great book I started reading over the holiday, and I think it would appeal to all walks of life. "Far from the Tree" by Andrew Solomon is about ordinary people facing extreme, and potentially isolating, challenges. The book focuses on the search for identity through struggle. I underlined a short passage, and I'm going to make it my thesis for 2016: Life is enriched by difficulty; love is made more acute when it requires exertion.....It is not suffering that is precious, but the concentric pearlescence with which we contain it. The raw grit of anguish will never be in short supply. There is enough of it in the happiest life to serve these instructive purposes and there always will be....We all have our darkness, and the trick is making something exalted of it. I hope that everyone can make the most of their darkness, and have a wonderful new year. Here's to 2016! I am stick-a-fork-in-me done right now. But we were a part of something so awesome this past weekend that I know I won't be able to go to sleep until I tell the world about it. So here it goes (please don't judge me, I am just slightly above zombie mode due to a teething and sick and not sleeping toddler, the poisonous coral snake that was in my laundry room over the weekend, Curren's multiple trips to ER last week, the Christmas tree collapse earlier last week that absolutely sounded like a break-in at 2:00 am - need I go on (I'm sure I missed 6 or 7 other ridiculous moments of the week?) Curren was a participant in the Go Baby Go program at UCF this weekend. The goal - to provide mobility to children with disabilities through low-cost modifications to off-the-shelf power wheel riding cars. The results were simply amazing. There were 16 lucky kiddos that had a custom car built just for them, from a team of volunteers consisting of physical therapists, engineering students, various professionals, and other community supporters. There was so much enthusiasm and excitement at this event, and it was very touching to see so many community members turn out to help these little guys get such a cool and unique gift. Go Baby Go was started by by Cole Galloway, a physical therapist and professor at the University of Delaware. He began his mobility studies paired with a mechanical engineer, and they started off by building power mobility robots. But with the price of custom robots so high, they were inaccessible to most families. Even pediatric power wheelchairs run about $5000 a pop. So Galloway's next move was to create fun, affordable toddler ride-on cars customized by using PVC piping, pool noodles, kick-boards, and minor electrical modifications for under $200 a vehicle. Fast forward to now, and he's traveling the country, hosting fabulous events like the one we attended at UCF last Friday. Our awesome build team (called Team Curren!) included 3 physical therapy students, a physical therapy student's mother, and an engineering student. They transformed an off-the-shelf Lightning McQueen power wheels toy into a moving machine for Curren, customized with special touches, like our large Bruce (the shark from Finding Nemo) sticker and Storm Trooper kickboard back. While our incredible build team was busy making our vehicle, we got to meet new friends and try out another one of Galloway's creations - an infant harness system, supported from a simple support structure above that allows freedom of movement almost like a bridge crane - forward, backward, left, and right - all seamlessly. This harness and support system was utilized at the University of Delaware's Go Baby Go Coffee Shop, where adults with traumatic brain and spinal cord injuries engage in vocational rehabilitation and work at the cafe. At the end of the day, Curren tried out his car for the first time. He was at first pretty perplexed by the idea of being able to move by pressing a button, but he quickly caught on and loved the idea of free movement. All the kiddos got together for a group picture, and it was overwhelming to see all the little ones lined up in their customized set of wheels. I am so incredibly grateful to Cole Galloway, UCF, and Team Curren for including us in this awesome event. Curren has been sporting his wheels every day since the build. For more information on Go Baby Go, including upcoming events and how to participate or volunteer, be sure to check out the links below:
http://www.ucfgobabygo.org/ http://www.udel.edu/gobabygo/ And for a little more background on Cole Galloway, check out his TEDMED, "A Movement for Mobility": http://www.udel.edu/udaily/2015/mar/gobabygo-tedmed-031915.html I am beyond exited that Thanksgiving is just around the corner. I can't wait to have a few extra days off to hang out with my husband and kiddos (especially after coming off of a 60+ hour work week last week), and to visit with my family. Excited for the food, too! And I just love Thanksgiving weekend, because that's usually when we get a Christmas tree and get all festive. I hope that everyone has a spectacularly fat and happy holiday.
Oh boy, do I have have so much to be thankful for. First off, my three Ramsey men (who are the light of my life) - thank you for being so fabulous. My husband is the Rhino glue in this family, thank you Barry for holding it all together, especially in these past few crazy weeks.. Thank you to my oldest son Weston, for being the caring, thoughtful, spunky wild child that you are. You make every day colorful and adventurous. And thank you to my little warrior peanut Curren for all the smiles and belly laughs that keep us all moving forward. To my mother, who has been relentlessly supportive through the difficult times this past year has brought, thank you for your foundation. It may not have been actually possible to survive this year without your help. My children are so incredibly blessed to have such a loving grandma, who genuinely loves them for exactly who they are. You have made them so important in your life, and that is the greatest gift you could give them. Thank you for everything that you do for us. Thank you to my grandparents, Mary Jean and Rodney, who are the most amazing people on the planet. You have always put family first, and are such incredible role models. And thank you to our fabulous team of awesomeness (I mean therapists) who have pushed Curren so hard this past year and have become such an important part of our lives. I am over the moon with the glorious week that Curren had last week. He was happy, healthy, and loving. But best of all, he had a huge milestone. He started actually pushing his legs in his little yellow pony walker. So much, in fact, that by the end of the weekend he was zooming around the living room from one end to the other. This is huge for this little guy, he is starting to figure out what his legs are capable of doing. It's been a beautiful weekend! I also wanted to thank our photographer, Erika Iurovich, for the fabulous holiday pictures she captured of my little guys. These pictures just make me giddy, Love these two with all my heart, thank you so much Erika! Everyone have a beautiful and blessed Thanksgiving! A lot has happened in the past week or so. First, I can't even begin to explain the overwhelming support that my family has felt since we received the news of Curren's rare genetic syndrome a few weeks back. There are so many awesome people in this world, so thank you to all from the very bottom of my (exhausted) heart! There have been many ups and downs this week, and I want to share with everyone the good, the bad, and the ugly (but especially the good)....
The incredible news is that we have been able to make an appointment at Kennedy Krieger in the Neurogenetic Clinic to see two of the doctors that contributed to the recent medical publication on HIVEP2 mutations. There is a fabulous person that helped us get our foot in the door, and lots of recommendations from people to start there. We are beyond excited to talk to doctors that are familiar with researching HIVEP2 mutations. We are also trying to set up appointments at Johns Hopkins that would coincide with our visit to Baltimore. Fingers crossed.... On the topic of good news - here's a bunch more. Curren had his 6 month re-evaluation this week with Early Steps and he is going to be authorized for an additional session of speech therapy and occupational therapy a week. We are really looking forward to the extra help! Curren also had an appointment this past week to have new orthotic braces made, which is fabulous news because it means his feet are finally growing. We were also assigned a case manager through our insurance company this past week. She seems super fabulous, and I think she will be a great asset to us - as we very frequently have claims denied, and some of Curren's very best therapists and specialists are out of network and currently not covered by insurance. And we also had a initial appointment with the Scott Center for Autism this week. We're hoping that the behavioral therapy they offer will become available to Curren to help with some of his frustrations. So, on to the not so good - we got a call from the preschool the other week that they were afraid Curren was having a seizure. He was playing in the gym and just fell over. His body went completely limp and he had a staring spell for a few minutes where he wasn't able to focus or look at anyone. On our pediatrician's recommendation, we took Curren to the local ER, where we had some really good, and some really not so good experiences. What we found out was that Curren's blood sugar was at 40 when we arrived. He also had very low CO2 levels, and was diagnosed with acidosis (his metabolic pH level was more acidic than it should have been). They had an awful time getting an IV in his body, and from this point began blood sugar monitoring every 1-2 hours (which was also awful, but necessary). Curren did magnificent in his CAT scan, he laid completely still as a statue, and the results of the scan were normal. The local hospital got in touch with our Neurologist at Nemours, and the verdict was that we needed to be there. Curren was transported by ambulance to Nemours, so that he could be in the best hands at the children's hospital. It was great that we were in such good hands. What wasn't great was the fact that people kept coming in to our room every 30 minutes or so, usually to poke Curren. And when there weren't people in the room, his alarms were going off every couple minutes or so. I don't think either one of us got more than 15 consecutive minutes of sleep through the night. Curren began an EEG in the morning, to see if any more seizure activity could be recorded. His CO2 and blood sugar slowly stabilized throughout the day, and we saw no seizures. There was, however, a new area of his brain that showed seizure-like activity - this time it was his left temporal area (in addition to his left occipital area). At the end of the day, everyone decided that all the numbers were stable enough and we could go home. This was fabulous news, considering Curren was basically miserable in the hospital - between all the wires and the constant pokes, he was completely skeptical of everything and everyone in the hospital. So on to more good news - we followed up with our pediatrician after the hospital stay and Curren's blood sugar was perfect. We don't really know if a seizure triggered low CO2/acidosis/low blood sugar, or if low blood sugar triggered a seizure. But either way, things have been much better since the hospital. We have been feeding this guys every 1-2 hours to be on the safe side, and things have been great. Aside from the hospital encounter, it hasn't been the most wonderful of times. I am still trying to wrap my head around the genetic diagnosis we received a few weeks ago. I have been googling my brain out, and reading some scary things. I wish that life could go on hold for a few hours (or just maybe a couple minutes?) so I could get a chance to catch my breath and focus, but there is a 2 year old and a 6 year old, and a +full time job, and laundry, and a gluten-free/dairy-free diet prep for the week, and homework. I don't know what the future will hold. Will my littlest require 24-hour care for the remainder of his life? Based on the information I have today, it's probable. Do his genetic condition predispose him to some nasties? Seemingly so. But I have a fabulous smiling face, and that's truly all I need. I will go to the ends of the earth to find options to allow him to be his personal best. And that's the next chapter... |
SignupSign up for our mailing list and you'll be the first to get updates on Curren and all his adventures!
About MeI am a mother, architect, wife, and a lover (not a fighter) - with a thirst for knowledge. My journey been recently refocused, as my family navigates through the world of medical and developmental uncertainty in hopes of providing every opportunity for my son to be his personal best in life. Categories
All
Archives
October 2017
|