Just the other day, I sat in a coffee shop while my 5-year-old daughter was across the street in another building and was participating in an intensive neuropsychological evaluation that lasted 2 days. I tried to write a post but had a hard time focusing. My mind was on my daughter. Yet, in between thoughts of her, I was asking myself what is my goal in writing this blog. I've thought a lot about this and this is what I've come up with so far. While it started out as a way to update our family and close friends on the several doctor appointments, tests, and updates that our daughters have each month, my desire for this blog has evolved into something more. I'd like to continue with the updates, but also want to shed a little light on what daily life is like in a family with chronic illnesses and special needs. I want to educate and bring awareness to what it is like to be on this journey. I want to explain what daily life entails, so that people closest to us understand why we do what we do (or don't do). I want to help those who may be on a similar path and provide a little hope when we achieve small victories. I want to be a place of comfort to others that share in some of these same struggles. And... I want to write to bring a voice to individuals with invisible illnesses, especially to those children who don't have their own voice yet like my three precious girls. Moving forward, I will write with reasons in mind. I hope that these posts achieve these goals and reach people in a different, but deeper way. I pledge to be an open book in the hopes that my vulnerability and honestly will bring awareness and understanding to families like ours. So with this in mind, I want to go back to the day last week where I was sitting in the coffee shop across the street from my daughter's doctor office and share a little about what was going through my mind as I sat there with a blank computer screen before me. Do you know what I was thinking? I was hoping and praying that the testing was going well, but not too well. Why? Because if it goes too well, and she doesn't present with the challenges we see daily, then this will all be for nothing. Another dead end. Yet, she's had so many challenging days lately, it would break my heart to know she is having another. So I also hoped that things were going smoothly for her sake. If that seems like an paradox, you are right! I want so badly to support her and help her thrive, but I can't do that until we first have a better understanding of these challenges. For that to happen, we need her doctors to see all the sides of her, from her areas of struggle to her strengths. So in four weeks, when we meet with her doctor to review the results of the evaluation, I pray that it will be the aha moment we've been waiting for and that her doctor was able to gather a true picture of our daughter. I also pray the doctors and therapists will be able to guide us on a path to better support my little girl. Until then, thanks for reading, for your support, and for following us on this journey! So another month has gone by in the blink of an eye. I'm kind of glad to be inching closer to spring but also amazed at how quickly time can fly by. Yet, some days feel so long! I guess that's where the saying "the longest shortest time" comes from. (It's also the name of a parenting podcast.) As I reflect on that idea, like most parents, I'm hit with the reality that our children are growing up so quickly. Just yesterday in fact, Facebook reminded me of this memory and photo from 5 years ago . This was taken when A was just 9 months old, E was 3 years old, and I was about 3 months away from giving birth to our third daughter. I love looking back at these photos and seeing their precious little faces. Most other parents, that have children older than ours, will often tell me, "Cherish these moments!" "They grow up so quickly!" "I wish mine were young again!" That seems like such great, valid advice. Yet, a lot of the time, I am looking toward the future. I want to leave these hard days behind. I pray that our daughters' health struggles will improve and the quality of our lives will improve. I look forward to cherishing moments together in the future when they are a bit older and hopefully life is more manageable. I dream and pray for a day where food allergies, feeding tubes, incontinence, GI struggles, chronic pain, Ehlers-Danlos Syndrome, autonomic dysfunction, mast cell activation syndrome, anxiety, autism spectrum disorder and sensory processing disorders no longer prevent us from living the life we dreamed of with our daughters. In the meantime, I will keep fighting everyday to make that dream come true because our daughters deserve those memorable moments. I also vow to take each day as a gift and a blessing, to make the little moments count, and to celebrate the small victories. So on that note, we do have a few small victories to share! Our daughter, A, had a food allergy test and oral challenge at the hospital a few weeks ago. She passed it with flying colors and has officially grown out of all her food allergies! She is cleared to drink milk and eat dairy products! She couldn't be more thrilled to be eating pizza with cheese on it! This week is also Feeding Tube Awareness week, and the perfect time to celebrate the fact that our oldest daughter, E, has had her G-tube for about 16 months now and it has done amazing things for her! She has been growing and gaining weight like never before! At her recent appointment with the endocrinologist, we were told that E was doing amazing and that we don't have to come back until she hits puberty! Yay! One less specialist to follow-up with is great news!
There have been other appointments and updates to share, but for now, I'd like to end on a positive note and stay in this happy place for a moment. As always, thanks for reading and for all your support! Happy New Year! I hope you all had a wonderful holiday season! I've been behind in posting updates for the entire month of December. Some of the updates were pretty upsetting and left me wanting to process all the information a little more before writing about it. Then throw Christmas preparations into the mix, and well, I'm sure you understand! So since the last blog post, a lot has happened. So I think I'll write a little update on each of my daughters and what has transpired this month. Our 8-year-old daughter, E, had a few important appointments this month. On December 1st, she had her repeat urodynamics testing (CMG bladder tests) to see if the tethered spinal cord release surgery in April has improved her bladder function. That test is always a difficult one for E, and she has to be sedated during it. Her follow-up appointment with the urologist was December 19th, and he went over the results with us. The good news is that it did show that her bladder was calmer and not as spastic as in the past. However, the bad news is that we have not seen these improvements make a difference in her day-to-day life. Her symptoms and incontinence remain unchanged overall. The urologist also reported that her pelvic floor dysfunction was still present on the test and that biofeedback therapy would be recommended again. He's hoping that the issue is due to pelvic floor muscle weakness and not something that is neurological in nature. If so, then biofeedback would have positive results for her. All we can do is try the biofeedback again and see if it helps. I was able to have him write the script so that we can do the therapy at our current physical therapy clinic, instead of going to the urologist office once per week for this like we did a couple years ago. Not only is the biofeedback not covered by insurance when done at the doctor's office, it is also a 45-minute drive each way. With our current schedule of 14 therapies per week, I don't know how to fit in a trip like that right now. Plus, biofeedback is covered by insurance when done through the physical therapist. Let's hope this actually works to improve her symptoms because it's literally our last hope for a positive change. Additionally, the urologist is sending the urodyanamics results to our neurosurgeon in Rhode Island for her review and to discuss with us at the 1-year post surgery phone consultation. It's possible E's nerve damage caused by the tethered spinal cord is permanent and that she may never have full bladder control. The neurosurgeon did advise us of this possibility last December, but we were of course hoping for the best. Needless to say, we are pretty concerned that the damage may be permanent. On a separate topic, E saw the allergist on December 11th and we discussed her exercise intolerance, autonomic dysfunction diagnosis (click here for previous post) and her symptoms when exercising. The allergist felt that it was likely exercise induced asthma and prescribed an albuterol inhaler to be used 15-minutes prior to strenuous activity or as needed, and to also continue the P.E. restrictions at school per the neurologist. As for A, our 5-year-old daughter, she started pelvic floor biofeedback therapy with her physical therapist to address her pelvic floor dysfunction which is contributing to her chronic constipation and urinary issues. (This is the same biofeedback therapy that her older sister needs to begin, as mentioned above.) Attempting this type of therapy with a 5-year old is a challenging feat, but she's doing well so far. Only time will tell if it helps improve her symptoms. For now, she goes once per week. We also attended two IEP meetings to discuss A's re-evaluation and new goals for the coming year at school. Overall it went well, but we had to make some big decisions as a team about how we would accommodate A's doctor-ordered daily nap. In the end, we agreed to shorten her school day by picking her up at 1:45 pm each day. This will allow her to maximize her time in school, attend lunch, recess, and most of her specials classes, like P.E., art and music, but still have time to come home for a 1-hour nap before we'd have to head back to school to pick up her sister and head to therapies. This new schedule will start next week when she returns from winter break. Another bid update was that I received a call mid-December from the geneticist to discuss the results of the genetic testing that A did in October. This long-awaited call happened 5 minutes before leaving the house to pick up the girls from school, caught me off guard, and left me little time to discuss very much with the doctor. Unfortunately, the whole exome sequencing, which is the most comprehensive genetic test offered currently, showed no abnormalities. While this initially sounds like positive news, it actually means that we have no answers at the end of 2-year wait to see this geneticist and after 8 weeks of waiting for test results. The geneticist said that it did not rule out or confirm the Ehlers-Danlos Diagnosis, but that Ehlers-Danlos was probably part of the overall picture. He said someday the medical field may discover a new syndrome that A would be diagnosed with, but for now, she remains undiagnosed and a true zebra. This was probably some of the most upsetting news we received because so many of her specialists have been waiting just as long as we have for a diagnosis or an answer of some sort so they could guide their treatment better. Yet, we are back to were we started and will just have to continue to manage the symptoms of her chronic illnesses and conditions. Finally, our 4-year-old, C, had a couple appointments this month too. We recently had to search for a new pediatrician, since our former doctor left the practice we had been at before we moved to our current home (about 40 minutes away). We were disappointed but didn't want to continue making that drive if our doctor was no longer there. So with the help of a good friend, we found a local pediatrician that was willing to start seeing our three daughters and help us manage their complicated medical care. The pediatrician wanted us to set up 3 separate appointments to review each daughter's medical history, records, and get caught up to speed. So C had her appointment on December 12th and A had hers on December 20th. E's is coming up this week. The good news is that I was very pleased with how our appointments went and know that this pediatrician is the right fit for our family. She was very caring, supportive, empathetic, and had a few new recommendations for us to try or new specialists to refer us to. I was so very relieved by this! Additionally, C had her swallow study test at the hospital on December 13th. This was to investigate why she has been coughing after drinking fluids for the past few years, and it's the second time she's had this test. The speech therapist that performed the test did share with us that C has mild vallecular residue when swallowing consecutive sips of liquid. C required a cue from the speech therapist to swallow a second time to clear the liquid completely from this space. The theory is that the liquid pools, as seen in the image below, and if too much pools up and drips down her throat, it triggers her to cough. So this information is being shared with her new speech therapist that will start working with C in January, and we will see what can be done to improve this swallowing condition. One final update, is that we got a call from Make-A-Wish Foundation, and we did not get the news we were hoping for. It seems there was a mix-up with the application and only one of our girls' applications were reviewed and not all three like their doctor had submitted. This was disappointing news as we were hoping for a bit of sunshine (literally and figuratively)!
So while our year did not end on the most positive note, we pledge to keep moving forward! That's why I like the quote above so much. "What feels like the end is often the beginning." As always, thanks for reading! This was a long update, and I appreciate you sticking it out to the end. Feel free to comment below or contact me here. Wishing you all a healthy and happy new year! Update Part 1: "Well, you earn the award of The Most Unique Patient of the Day!" These were the words uttered by my doctor last week, and it wasn't the first time I have heard that. Unfortunately, the same message has been repeated several times over the past 8 years, and is common for many zebras to hear over and over again. I heard a similar message on November 22nd, the day before Thanksgiving, at our follow-up appointment with the sleep specialist for our 5-year-old daughter. She completed a sleep study a few weeks ago and we were meeting to go over the results and treatment plan. Unfortunately, A's sleep issues have not improved since her turbinate reduction surgery in September. She is still just as tired throughout the day, falling asleep at all times of the day, and is unable to function properly without a daytime nap. So I approached this appointment knowing that something had to be done to help her and was expecting the recommendation for a CPAP machine. However, the results of the sleep study showed that her obstructive sleep apnea had improved a bit and was now only considered "mild." However, she had an increase in the frequency of periodic and isolated limb movements, which can cause her to be aroused out of REM sleep each time. Despite that disorder worsening, the sleep doctor did not feel that the mild sleep apnea and limb movement disorders were bad enough for her to recommend the CPAP machine or that they fully explained the severity of her hypersomnia. This is what led her to say that A's health struggles are tricky, unique and a bit puzzling. After asking me many questions, going over her medical chart and previous tests again and again, she believes that A is becoming so fatigued from a combination of a possible neurological condition, the mental overload she experiences during a full-day of kindergarten, and her low muscle tone paired with all the physical activity at school. (Individuals on the autism spectrum and who have anxiety, like A, often become very overwhelmed in school environments, which can be very exhausting mentally.) The doctor is hoping the genetic testing we are waiting for will shed some light on the situation and provide some more answers. For now, the doctor's recommendations are to get a second opinion from another sleep specialist at the local children's hospital since A's case is so complex, repeat the sleep study in 6-9 months, have a full neuropsychological evaluation to determine her neurocognitive functions and to help with school accommodations, repeat her blood work to check levels that could be affecting the period limb movements (last time the blood work was all normal), and to consider other ways to incorporate power naps at school, or to reduce her school work load and school hours to half-days. I passed this information on to her school team, and luckily, we meet on Thursday to discuss her current re-evaluation of her IEP (individualized education plan). So together we will come up with a plan that best meets her health and educational needs. Needless to say, this potential schedule change will cause a bit of a shake up in our family. So I'm scrambling to figure out how to make all these changes and quick! I'll be sure to keep everyone updated, of course! Update Part 2: On November 24th, the day after Thanksgiving, our 8-year-old daughter, E, and I had to report to the hospital to complete autonomic testing and be evaluated by the same autonomic neurologist that I see regularly. We were so fortunate to get an appointment in just 3 weeks from calling for these tests. Most patients wait 6-8 months to see him. Thankfully, he knew a lot about E already and had said he recommended testing her to see if her bladder and GI issues were due to autonomic dysfunction and could possibly explain why her incontinence issues have not improved after her tethered spinal cord release surgeries. So when I contacted him about her recent struggles in PE class at school, he thought it warranted a quick evaluation. See, E has been struggling most Thursdays during PE class when they often run longer distances. She has symptoms afterwards each day that include headaches, dizziness, chest pains, and sometimes her pulse ox reading is too low. Each Thursday this year, she ends up in the nurse's office and I get a phone call with an update. Several weeks ago, she started sitting out at PE time when the class was required to run, which she is allowed to do with her current health issues and 504 plan at school, and it gave us the time to schedule the necessary doctor appointments to investigate what was going on. So on the day of testing, E underwent 4 autonomic tests, including sweat testing using a capsule applied to the skin, a measurement of heart rate after deep breathing while lying down on her back, a measurement of heart rate and blood pressure after taking deep breaths in and blowing into a mouthpiece, and finally a tilt table test. The autonomic neurologist also took a medical history, list of symptoms, reviewed her medical records and previous testing, and performed a physical examination. His preliminary findings were that her sweat testing is abnormal and she has exercise intolerance, which means that her autonomic nervous system is not regulating itself as it should when she is exerting herself physically. For now, the doctor wrote a letter to her school stating her diagnosis and that her PE class needs to be adapted or modified to accommodate for her health needs. He will also be reviewing all her medical records in more detail over the next couple days, further analyzing the tests, and will write me with more complete recommendations.
E did a fantastic job at the testing and appointment and received many compliments about what a good patient she is. I could not be more proud of my brave girl! She definitely deserved a little fun after all that. So we headed to the theater to see the movie, Wonder. We were both anxiously awaiting the release of this movie after reading the book together earlier this year. It was such a touching movie (and book), and I really related to it on many levels, which left me tearing up throughout the movie. The message that sticks with me is the quote from J.M. Barrie that is referenced in Wonder...
However, today in this rare moment of quiet, I am able to think about all the things I am thankful for, and I think I need to do this more often. I want to consciously remind myself of all the ways we are blessed as a family, and I want to do this every month, not just in November. So here goes...
1. I am thankful for my husband, who stands by me and our daughters through all the ups and downs. I know he loves us all, and I am so, so grateful for him every day! 2. I am thankful for my three amazing daughters. They have taught me so much about love, patience, determination, and courage. Words will never express how much they mean to me! 3. I am thankful for my sisters, parents, aunts, uncles, cousins, and grandparents. They have all taught me so much during my life and many have been my rock and support system through all our challenges, tests, procedures and surgeries. I couldn't do it without them and love them so much. 4. I am thankful for the friends, that are like family, and have also been a tremendous support to me and my family. Ladies, I love you too! 5. I am thankful for the friends that I've met in online support groups. While some people don't see the value of Facebook, I do. It allows families, who have similar medical struggles and diagnoses, from all over the world to communicate and support each other. There is one special friend who has three children are similar to mine that I am very thankful for. I would be lost without her support! 6. I am thankful for each new day, that I have learned to keep advocating for my girls and never give up, for the medical team that we currently have that is fighting for my girls as hard as I am, and for all the progress we have made so far. 7. On that note, I am also thankful for the nurse practitioner who nominated our girls for Make A Wish Foundation. I received a voicemail message from Make A Wish Foundation yesterday. Fingers crossed that it's good news! I could go on and on, and I will. I plan to jot down reasons to be thankful each month. Despite the challenges, I know we have many blessings! Hopefully this Thanksgiving you are reminded of all the reasons you are thankful. Wishing you all a happy and blessed Thanksgiving! Thanks for reading! Sorry for the delay in writing updates! We've had a lot of appointments the past few weeks, and I've finally had a chance to sit down and write. I'll try to keep it is a brief as possible without leaving out important information. I also want to warn you that some of the updates involve information about constipation and how the digestive system works. Sorry if it makes any squeamish, but for those reading the blog looking for information related to their own health, those details are pertinent. So on October 2nd, the day finally arrived when one of our daughters had the opportunity to meet and be evaluated by the geneticist that specializes in Ehlers-Danlos Syndrome (EDS). Our oldest two daughters have been on the wait list to see him since March 2016, which puts us at 19 months of waiting. We were expecting to wait for 2 years and were so relieved when her GI motility specialist reached out to the geneticist and got her appointment scheduled so quickly. Yet, now that the day was finally here, I was a nervous wreck. So much has been hinging on this appointment, and so many of the girls' other doctors and specialists have been waiting for this evaluation too. As I was driving the 90 minutes to get to the appointment, all I could think of was how much I hoped he would provide help, answers, and confirmation that our 5-year-old daughter, A, also has Ehlers-Danlos Syndrome. So you can imagine my surprise when, after taking a full medical history on myself and all three of my daughters, the geneticist says, "Well, I wish I was comfortable saying that this was only EDS and that I could fully manage your family's care, but unfortunately I don't feel comfortable saying that at this time." He believes that there may be a bigger diagnosis that would encompass the constellation of symptoms and disorders that the 3 girls have. He's wondering if there is a neurological condition or possibly a mitochondrial disorder, as hypermobility can be caused by other syndromes and disorders. Yikes! That completely caught me off guard. I was expecting this appointment to be either a slam dunk, or like many other appointments, to be let down, dismissed or sent back to the drawing board. Sometimes, when doctors don't have the answers, they send you on your way without any direction or feedback. I've left those appointments feeling defeated, confused and in tears. So I was completely surprised when this appointment took a turn the other way, and he suggested that there is more going on medically that we originally thought. However, when discussing my medical history and symptoms, the geneticist said that it sounded like I have a typical case of EDS. How can that be, but the girls have more? On one hand, I was pleased that he was listening and validated our concerns. On the other hand, I was scared. The fear of the unknown is worse than the fear of the known, at least for me. Or as they say, "Better the devil you know, than the devil you don't know." I guess time will tell, and my questions will have to be answered in about 8 weeks time when we get the genetic test results. He said he would be happy to see our other girls if needed, but that we should wait until the results come back to determine the best treatment plan for our family. In other news, we had a few other appointments over past couple weeks. Our 8-year-old daughter, E, and our 4-year-old daughter, C, were at the hospital to have their clinic appointments with the GI, allergist and nutritionist on October 6th. It's nice to be able to have 6 appointments scheduled together and for the doctors to be able to collaborate. Yet, it also makes for a really long day, leaving the house at 8:00 am and returning by 2:30 pm. So the highlights from those appointments include that both girls continue to be constipated and in need of a bowel clean out. So for 3 days total that weekend, we completed clean outs for all 3 girls, which is never a pleasant experience and requires us to be home bound and missing out/cancelling a lot of activities. The GI added senna to C's medications for the next 2 weeks in hopes of keeping her digestive system moving. We also discussed with the GI and allergist how much C has been coughing, both when running or exerting herself and when drinking fluids. So the GI ordered a video flouroscopic swallow study to rule out aspiration when drinking and the allergist prescribed a rescue inhaler, Albuterol, to use as needed when she has trouble breathing and coughing when exercising or before exerting herself. Additionally, we were advised to stop the peanut butter trial for C for now, since it was causing abdominal pain. We will retest her food allergies in the winter when she is able to stop taking her antihistamines for 5 days prior to the skin allergy test. At that time, we hope to be able to trial foods that were previously triggers and that she is hopefully outgrowing. Then on October 11th, we had 2 important follow-up appointments with the motility specialist and the urologist. This was another very long day as we left the house at 8:45 am to drop off the girls at school, drove to the far north suburbs for the motility specialist appointment, got home around 3:00 pm, picked up the girls from the babysitter and school, had ABA therapy, ate a quick dinner, and then left for the urology appointment at 5:45 pm to get there in time for the 6:40 pm appointment. We didn't arrive back home until 8:00 pm. While these appointments are very important, the days are long and exhausting for all those involved. It also requires asking friends for help with getting kids to and from school, hiring a babysitter to pick up our preschooler and care for her, and for my husband to come home early from work to take over ABA therapy session, help them with homework, and finish the nightly routines before bedtime. I'm grateful for everyone's help, but wish our days weren't so complicated. I long for a simpler life... maybe someday. So first was the follow-up appointment with the motility specialist to go over the 3 motility tests that A, our 5-year-old, had done over the past month, which included the SITZ marker study, the water soluble contrast enema, and the Anorectal manometry test. The SITZ marker study showed that all the markers had been passed, but that there was still a lot of stool in her colon. Thankfully, the contrast enema test was also normal. So that means that her colon is not stretched out, which is surprising but also great news. Finally, the anorectal manometry test revealed that the muscle control in her rectum is abnormal and that she is contracting those muscles instead of relaxing them during an attempted bowel movement. This is likely due to her long history of severe constipation and pain. Her body has adapted to the pain and discomfort. So the recommended treatment is pelvic floor biofeedback therapy to address the pelvic floor dyssynergia. Furthermore, he increased her senna dosage and referred her to the multi-disciplinary bowel management program at the local children's hospital. This team includes the GI motility specialist, a pediatric surgeon, a social worker or psychologist and a nutritionist. That evening, our 4-year-old daughter, C, had her follow-up appointment with the urologist to review the results from the abdominal x-ray, abdominal ultrasound and the spinal MRI. Prior to this appointment, we had received a call from the neurosurgeon that the brain MRI showed a stable pineal cyst (see the post called My 12-hour adventure with "C" for more information), that the spinal MRI was normal, and no tethered spinal cord was noted. While this sounds like good news, it means further evaluation to identify why she's having current symptoms. However, the urologist did share this ultrasound photo with me, which shows C's bladder. He pointed out how her rectum is so full of stool that it is pushing into her bladder in an extreme way. He actually said to me that looking at that photo made him feel like he had to urinate (insert humor), but that in all seriousness, that it looks extremely uncomfortable. It was technically an obstruction and was blocking the elimination of stool and air in her entire colon. So that definitely explains why she has such severe abdominal pain on a weekly, sometimes daily, basis. He recommended that she continue the senna her GI prescribed for the next 3 months to keep her digestive system moving and cleaned out. Hopefully, the bladder symptoms will improve. We follow up with the urologist in 3 months, and she how she's doing. Thank you all for reading and for your support! Please feel free to leave comments or questions below, or contact me directly. It's always nice to hear from you!
Last Friday, September 29th, our 4-year-old daughter, C, underwent four different tests at the local children's hospital in Chicago. Boy, that was a long day! We left the house at 8:00 am to arrive for the abdominal ultrasound at 10:30 am with an abdominal x-ray immediately following that. Both of these tests were ordered by her urologist to check her anatomy and for any abnormalities that could be causing her urinary incontinence and urgency issues. I was reminded why these tests were necessary when we were only 5 minutes away from the hospital, and we had to make a pit stop at the Rock-n-Roll McDonald's because she had to use the restroom and couldn't wait. That gave me a chance to buy coffee and a breakfast sandwich since parking was free with a purchase. I ate breakfast quickly in the car without letting C know that I had food. She had to fast from midnight the night before due to the testing and wasn't happy about it. Luckily, the the first two tests were easy enough and were done quickly! She was a trooper and very cooperative (minus not liking the gel they use during the ultrasound). Next, she had the the full spinal and brain MRIs, which included being put under general anesthesia. The spinal MRI was the third test ordered by the urologist for her urinary incontinence, since this condition could be caused by having a tethered spinal cord. Her oldest sister, age 8, has had two surgeries already to repair her tethered spinal cord. So the urologist wants to rule that out as the possibility for C too. The brain MRI was to further evaluate the pineal cyst that we have been monitoring since she was 15 months old since she has a new onset of coughing and has speech delays that are not improving with speech therapy. (See my previous post on 9/17/17 for more info.) We had to check in at 2:00 pm, which meant we had 3+ hours to kill at the hospital. Thankfully, the cafeteria had orange jello and apple juice, which she could consume up until 12:30 pm since they were clear liquids. We also did a lot of walking around the hospital, visited the Sky Garden, played card games, visited the gift shop, bought the orange teddy bear, and took many trips up and down the escalator (her favorite part of the day!). The 2 MRIs went well. She tolerated the anesthesia just fine and woke up recovery a couple hours later. She was discharged by 6:00 pm; so we were right in time to sit in Friday evening rush hour (insert sarcasm). All in all, she was such a trooper during the 12-hour adventure! Now that we have that under our belt, we will hope and pray for answers and a direction towards treatment and management of her conditions. I'll be sure to keep you posted on the results and next steps. Thanks for reading and for all your prayers and support! It means a lot to our family.
Our 5-year-old daughter, A, completed all three motility tests that the GI specialist ordered back in August. Read more about them on my post dated 8/26/17. The first was the SitzMarker test, which required her to swallow all of these circle "SitzMarkers" (see photos above). Since she can't swallow a whole pill, we had to empty them and put 1 - 2 markers in spoonful of yogurt until all 26 markers were swallowed. That was challenging, but she did it! Then on Day #5, which was August 30th, she had to get an abdominal x-ray to see if the markers were still in her system or if they had passed. None were seen on x-ray. I suspect that she passed them all the morning of the x-ray, since it was the first bowel movement since swallowing them. Next, on September 20th, she had the contrast enema. As you can probably guess, that was no fun at all. The technician and doctor had to insert the enema, deliver 1500 ml of contrast solution into her colon, and then take x-rays to study her anatomy. When they were done the contrast was drained and we were on our way. While it was a very challenging test for A, at least it was done quickly! On September 27th, she went to the local children's hospital for the third of three GI motility tests that were ordered, the anorectal manometry. The was an exam that not only required her to fast after midnight the night before, but we also had to administer 2 enemas at home. One was done the night before, and the other was done the next in the morning before we left for the hospital. I'll spare you the details, but I'm sure you can imagine how unpleasant that was for all involved. We were exhausted by the time we got in the car that morning at 8:45 am. After a dropping the other two girls off at school and a long drive in to the city, we arrived just in time for the test at 10:30 am. I was so glad we made it in time, but in the end, we waited 3 more hours for the test to actually begin! A was a trooper considering all she had to go through. They gave her a little Versed to sedate her enough to administer the test, but to keep her awake to participate when they needed her to answer their questions or to squeeze or relax her muscles. Thank goodness for the Versed and for the Child Life Specialist that sat with her throughout the entire test in the operating room while I couldn't be with her. She was a rock star and the test was successfully completed. In the recovery room, they monitored her while she drank some water and ate a popsicle. You can see in the photo above how happy she was about the orange popsicle and the toy they gave her. The doctor met with me briefly after the test. He said he would analyze the test further, but he observed that the muscles in her rectum weren't contracting and relaxing properly. This could be a piece of the puzzle and is also similar to the sphincter issues she has when urinating. We will find out more information and the next steps at her follow up appointment on October 11th. After each of the last two tests, A requested McDonald's french fries. How could I say no, especially after she had gone all day, both days, without eating? She deserved those fries and the Happy Meal prize. Look at that smile!
Stay tuned for more updates soon. Our 4-year-old daughter, C, had her two MRIs last week, and yesterday A finally had the long-awaited geneticist appointment! I'll be writing more as soon as I get a chance. Thanks for reading and all your support! Last week, we was another busy week around here. There were 4 medical appointments, including a brain MRI, 8 therapy sessions, Curriculum Night at the elementary school for 2 of our kiddos, and a wheelchair delivery. So here's a recap of the important updates. Last Monday, our 4-year-old daughter, C, had a "quick", non-sedated brain MRI to check on her pineal cyst that was found in her very first MRI when she was 16 months old. A pineal cyst is a cyst that is found in the pineal gland, which is near the center of the brain in the cerebrum. The cerebrum's main function is to control thinking, learning, speech, emotions and movement. The pineal gland produces the hormone called melatonin, which helps regulate sleep cycles. (For more info, you can read more here.) The neurosurgeon had informed us 3 years ago that this cyst was benign and there was no reason to be concerned since pineal cysts are typically asymptomatic. However, he recommended that we should monitor it and repeat the brain MRI once per year to make sure it was not growing in size. So this past Monday was the 4th brain MRI she has had, and we were happy to hear that the cyst had not grown in size. When we discussed the results with the neurosurgeon, he had asked if she was having any headaches or other symptoms. I said no, but asked if her speech delays could be related. I explained that C has been in speech therapy since the beginning of June 2016 and has not made any progress after 15 months of therapy. While he never said it could be related, he did suggest immediately that she should have a 3 Tesla MRI, full brain scan. The 3 Tesla MRI shows the highest quality images. Since C is already scheduled for a full spinal MRI on September 29th, he wanted to add on the brain MRI and have them completed at the same time. We were always assured that there was no reason to worry about this benign cyst, and we therefore trusted what the doctor said and have not thought much about it from year to year. However, when I left the appointment this time, I decided to research what other symptoms are typical of children with symptomatic pineal cysts. Here's what I read from the National Institute of Health website. When a pineal cyst does cause symptoms, they may include headaches (the most common symptom), hydrocephalus, disturbances in vision, and Parinaud syndrome. Although rare, people with symptomatic pineal cysts may have other symptoms such as difficulty moving (ataxia), mental and emotional disturbances, vertigo, seizures, sleep (circadian rhythm) troubles, vomiting, hormonal imbalances that may cause precocious puberty, or secondary parkinsonism. This was quite alarming to me since C has struggled with sleep issues since she was 1, or possibly younger, and has been taking melatonin for several months to help her fall asleep at night. I'm thinking that it's not a coincidence that the cyst located in the pineal gland, which produces the hormone melatonin, is hindering her body's ability to make enough of melatonin on its own. She also has debilitating anxiety, symptoms that point to ADHD, and other "emotional disturbances." It also makes me wonder more about her speech delays since the location of the cyst is within the cerebrum which is the part of the brain that is responsible for speech. Needless to say, I am focused on finding more information and will definitely bring all these questions to her doctor(s) after we receive the results of her MRIs. In other news, the Convaid stroller/wheelchair, for our 8-year-old daughter, E, finally arrived on Wednesday after a 4-month wait. The representative quickly fitted her to be sure it was the correct size and gave me a crash course in how to use it. This device will come in handy when we go on family outings to the zoo, arboretum, and similar places, since E cannot usually walk for very long without fatigue, leg and ankle pain due to having Ehlers-Danlos Syndrome. We will now be able to have longer days away from home, she will be able to participate in activities that same age peers are doing, and it will give her the rest her body requires. She is very excited to have it and loves the color purple that she chose! Now, I just have to find a place to store this beast! While it is easy to push and use, it is quite bulky. As always, thanks for your continued support and for reading! Please sign up for our newsletter on the home page if you have not done so already.
Today, our 5-year-old daughter, "A", had outpatient surgery to patch a hole in her eardrum and to reduce the size of the turbinates in her nasal passage. We are hoping that the nasal surgery will improve her obstructive sleep apnea, which will be tested in sleep study in about 4-6 weeks. Needless to say, she was not excited about today's agenda and was very disappointed that she couldn't drink her "milk" this morning (which is actually a pediatric dairy-free supplemental formula). She didn't need to check in for the surgery until 10:00 am, and we were hoping she'd sleep in like she has been wanting to every school day. Well for those you that know us well, I'm sure you can predict that our wish did not come true. She was up by 6:30 am! So we had to distract her from wanting to drink her milk or eat breakfast for 3 hours. We thought she was handling the news of having her "ear fixed" pretty well, until it was time to leave. Her younger sister tried to console her, but eventually Dad had to just carry her out to the car, which broke my heart. During the car ride, Dad started playing the I Spy game. Thankfully, she calmed down and even had a bit of fun. After she got checked in and changed into her gown, they gave her some happy medicine to calm her nerves. She also got her polar bear and Skye from Paw Patrol ready for the procedure too! Thankfully, the procedure was complete in under an hour and Adam was able to join her in the recovery room. I'm happy to report that all went well and she is resting at home now. She'll be back to herself in no time!
In other news, I received a very exciting phone call this week. The geneticist's office, that specializes in Ehlers-Danlos Syndromes (EDS) that I mentioned in my first post, called this week to schedule A's evaluation with the geneticist and the physical therapist at his clinic! Our prayers were answered with the help of the motility specialist making the referral to the geneticist. She got bumped up on the wait list, and after 18 months, we finally have an appointment for her on October 2nd! I am so excited to finally meet this doctor after all I have heard and read about him. I feel like we are meeting a celebrity! Well, in the EDS world he kind of is a celebrity. He was actually awarded a Lifetime Achievement Award today at The Ehlers-Danlos Society Global Learning Conference taking place in Las Vegas this weekend. So October will hopefully yield long-awaited answers for A. We will also be meeting with the motility specialist on October 11th to review all of the motility testing results. Fingers crossed for a positive treatment plan moving forward! Please check back or subscribe to my newsletter to stay updated! If you are interested in learning more about the Ehlers-Danlos Syndromes, please visit the The Ehlers-Danlos Society's website. www.ehlers-danlos.com |
AuthorHi, I'm Rebekah! I'm a wife, architect, teacher and mother to 3 amazing daughters! Thanks for stopping by my blog, RAISING ZEBRAS! Archives
February 2018
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