Hello, Everyone! We have been in the Children's Hospital since Wednesday morning. I have to share that this place is amazing! Everything is such a vast difference in comparison to the care we have received previously. Even the ease at getting the sensors glued to his head to the way they wrap him up and the pack that they use. Instead of being confined to a tiny room on a short length of cord he's in a large room and is allowed to go on a battery pack to play out in a central area with other kids. The nursing staff is nice. The Neurologist/Epileptologist comes around 2-3 times a day and is informative, friendly and helpful. They started to ween Abe off his Klonopin the first day to try and instigate a seizure. So far he hasnt had an "episode" but his EEG shows multiple bursts of epileptiforms throughout the day which is indicative of seizure activity. He had been very lethargic and sleeping A LOT which is very much not Abe. He has been very cuddly though so I'll take the cuddles! The plan seems to be to add in Keppra, an anti-convulsant and slowly take him off the Klonopin once we get back home. Due to withdrawal issues that has to happen slowly and with his sleeping issues we may keep a night time dose but aren't sure in that yet! So, for now we just keep waiting! Thanks again for being amazing and for caring about Abe. Hello, Everyone! Things have been moving along as we now are only a week away from being admitted to the Children's Hospital in St. Paul, MN via the MN Epilepsy Group. Since my last update we had visited with Abram's Pediatrician who prescribed him a sleep medication to help him get some much needed rest. However, after just six days on the drug we realized that it was not a good fit for him. He was becoming very aggressive with his moods and three of the six nights Abram and I landed on the couch sleeping together as he just couldn't settle himself in at all. On the last night, he drenched two different jammie sets in sweat but was only 97.7 for his temperature so I called his Pediatrician and they had me ween him back off. The drug is also used to bring down blood pressure and heart rate and it was having quite the adverse affect on him. We are now officially off and tonight will be the third night. I'm hoping he gets some rest! We spent a lot of time outdoors today so I'm hoping all the nice fresh air will get him some sleep tonight! Our Neurologist finally called us back today as well to tell me that the sleep medicine was not something that he would not have prescribed. Then when I asked him again about the new cyst that was reported in the Radiologist Report on his March's MRI he asked "What new cyst? I didn't even know there was one until I saw your email."(This is the kind of stuff that infuriates me.) But I digress. He is a good kind man and is doing his best. I'm just frustrated that the fact that: 1) I asked him directly about this in the hospital and he dismissed me with his hand like he was shooing a fly 2) The cyst is IN the Radiologist Report and 3) the Cyst is Flagged on the MRI. I just can't wrap my brain around a Neurologist NOT looking at an MRI that they themselves ordered but he promised to go over the images from March at our next appointment with him in June. It is what it is! I honestly feel guilty even sharing that tidbit but it's things like this that help people understand what we go through. Every single family I meet that is suffering with the unknowns of brain cysts, brain lesions and benign brain tumors as well as Epilepsy all go through the gamut of doctors where we all feel like we're chasing our own tails. This is the norm, not the exception but honestly, it feels better knowing that it's not just us! The good news is we are off to a Nationally Recognized program that even the Director of the Epilepsy Foundation here recommended and confirmed as a good place to go. She was kind enough to chat with me over the phone again (we had spoken on the phone last fall before Abram's Epilepsy Diagnosis) and put me at ease that the people we have been discussing Abe's case with (Dr. Chugani in Michigan and Dr. Weiner at NYU) are highly regarded in the field of Epilepsy so she helped me to feel a lot less frustrated and more like we are on the right track! One week from today, Mr. Abe and I will be in a hotel in downtown St. Paul. I'm hoping to get there the day before to get a day of fun in before we're confined to a hospital stay for 10 days or less! Much love to all of you. Thank you again for all your help. We literally couldn't be doing it without you. xo Abram's Mama I haven't had the courage to post here very often because when I try to tell this story over (and over) again I just get angry. After Abe had his ride to the Children's Hospital in October in an ambulance I thought that maybe we'd have answers. We went through a 44 hour VEEG and then a 22 hour Ambulatory EEG and had no events or episodes that we noted. I went all that time and all of those weeks thinking that they had just disproved seizures. WEEKS went by and we heard no news. None. At my follow-up appointment, I was told that his EEG was "abnormal" but I needed to re-schedule the next appointment with my husband so he could go over the EEGs with us. So we did. It was then that he told us that he has "Generalized Seizure Disorder" and that his EEG was "very very abnormal". He described it as "his brain is firing from all over the place all of the time". Then he gave us a list of medications in which we should look into and chose which anti-seizure med we needed to choose. Luckily, I have a great relationship with our Pharmacist who helped us pick based on his extensive knowledge of all that is Abe.
We chose Clonazepam over the rest in hopes that it would help is serious lack of sleep, his agitated mood in addition to helping his seizures. December was THE BEST MONTH we have ever had. All of our friends noticed just from his pictures that he was so happy and he felt sooooo good. He had a shine in his eyes. He smiled. He played with toys. He walked unassisted for the first time in his life at 30 months. He fed himself with a fork for the first time all right before Christmas. Everyone said "he seems like such a different little boy". But then it changed. So we upped his Meds in January, February and March. For most of the month of March I called begging for help to our Neurologist's Office. We were trying to set up peer-to-peer conversation between our local doctor and the Skull Base Surgeon who had been following Abe since he was 10 months old. Our Neurologist had admitted that he needed outside help. I even wrote a research paper for him on the 7q31.31 deletion and our Geneticists findings as well as the info I had from the only 4 other families in the country who have similar but not the same deletion but I never got a response regarding my findings at all which basically proved that the 7q31.31 had no other patients who suffered from seizures. After our Neuro and the Skull Based Surgeon's first peer-to-peer, we were told their concerns were things were structurally changing within the brain. We needed an "urgent MRI" that got pushed back a week. I bawled my eyes out. Then we got the MRI and it showed that in addition to his "11+mm prominent pineal cystic lesion" he now has a new 2cm occipital cyst as well and there are changes in his hippocampus and his temporal horns. It took another 10 days for these results to be discussed with the Skull Base Surgeon (who wanted to give us an even later date but our doctor refused). Just last weekend, he had a seizure with his SCL on that Friday, by Saturday he was crawling and by Sunday he could only take a couple of steps before he collapsed and had to crawl the rest of the way. I called the "on-call" Neuro who asked me "What do you want to do?" In some occasions, it's great to have a doctor ask you that. However, that occasion is NOT when your toddler is having Neurological Issues and no one ever even really discussed with you what that REALLY MEANS or what to look for... that is not what you want to hear. So, she advised us to give him an extra dose of meds and bring him in if it still continued. And it did. So we went to the ER. We were admitted and told he'd need another MRI and no one would even call to discuss with our Neurologist. So they prepped him for said MRI and full sedation (with breathing tube, etc) by giving him an IV (which is horrific for him, in so so many ways) and starving him. By 7pm that night he was a WRECK. They still didn't have a sedation team to do the MRI so they let him eat and then we had to withhold food again until his MRI that was to be at 8 am. Eight o'clock in the morning came by quickly and after waiting several hours more and with Abe having a nervous breakdown, the MRI was canceled and my son was able to eat. By 2pm that day, our Neurologist told us the Skull Base Surgeon still said he was not a surgical candidate for the pineal cyst and had no other advice. No word about the Seizures or the changes in his hippocampus or temporal horns. No mention of the new occipital cyst. No explanation. No nothing. We were told that they didn't know how to help us and that we needed to go somewhere else. Having your Neurologist tell you they don't know how to help your child is overwhelming. I'm NOT angry with him for that at all. I feel lucky that I at least have a doctor who is honest with me and WANTS to help my son get to someone who can help. It's an incredibly scary journey when the specialists need to point you in another direction. Sorry folks, it's been a while since my last update. The reality is, things have been crazy and hard and amazing and good all at the same time. I try my best to keep my posts positive but I also feel that it is important to share the sad, the heartache and the never ending worry because that my friends, is reality. My little boy has taught me so much more about this life we live and what it takes to live it at its fullest. He can smile and take reprieve even in the worst of moments to giggle and remind me that things are going to be okay. Life is good... even when there are tiny little heart breaks along the way. He proved this once again this past Monday as we were rushing him to the ER via his First Ambulance ride. In the midst of the crazy and screaming from being strapped down this little dude stops in the middle of it to smile and revel in the fact that he is IN the thing whose sirens make him stop and go "ooooOOOooo". Even the sweet EMT laughed but really, kid? Abram was admitted in the Children's Hospital Monday night after he had what we can only assume was a seizure. He's already been having the staring spells/absence seizures for over a year now but we'b been unable to catch them on the Sleep Deprived EEG as well as a three-day-long Video EEG he had last December, in which they caught seizure activity but not enough to warrant medication. This time around we were released from the hospital less than 48 hours later because he'd had no other episodes. Luckily a friend of mine suggested an Ambulatory EEG and our Neurologist agreed that would be for the best interest for Abram as well, particularly because of the time of year and amount of yuck that is going around. (I almost died when they came and asked if I had any Ebola-like symptoms!) Yesterday, Mr. Abe had business as usual. I think he was so excited to be out of the hospital and going to Therapy was like a piece of cake! His dad even got to attend to see him eat eggs and actually touch pudding for the first time ever without a meltdown at Speech. He did great with his Occupational Therapist even though she was not his regular OT and then he kicked butt at Physical Therapy too and was walking back and forth WITHOUT his walker for her multiple times! However, his excitement waned when he realized he had to go see his Orthotist and start wearing SMOs on his feet again. His ankles are really rolling in and his feet are pointing out (it's a Hypotonia thing) so he's back in SMOs and some sweet new kicks that I wish came in my size. Alas, I don't think he likes them as much because the 1" rise that allows for a deeper shoe makes him really stumble and hit his heels together. I'm hoping that he'll get used to them or we'll be needing new shoes again. He grew like a weed this summer and went up an entire shoe size! Not to mention, he went from not being able to see out our front door at all to being able to stand nearly a head above it! He's still small for his age but damn it, he's growing! On Monday, we go back to the Hospital to put on the EEG probes. That is the worst part of it! Especially since Abram has some major sensory issues and his biggest triggers are smells and having his head touched. So, he ended up tied down to a board and swaddled but he still manages to pry himself loose. He's so strong when he's made I find it hard to keep him pinned down and I HATE having to do that to him. It makes me feel so terrible even when I know it's for the greater good. Just seeing your baby suffer in general is the worst thing ever. Luckily, I have met some amazing people thanks to Abram. He has introduced me to a completely different world and he has helped me learn to live in the moment and to enjoy the wonder of all the little things. Like giggles in Ambulances. There is nothing that I can stress more when you are dealing with a sick or special needs child than the fact that if you feel that you have gotten terrible care or that the individual you met with did not answer all your questions - PLEASE get a Second Opinion. Until I had a son that has had medical issues since day one, I had no idea how different and often times completely opposing views doctors and nurses would have as to what is considered appropriate care for my child. If you are new to the blog you might be shocked to hear we had an Orthopaedic Surgeon tell us that our son may not walk, a Neurologist who told us he was "fine" and a Pediatrician who missed a lot of signs of a serious issue for the first ten months of his life! I am lucky to have had a nurse friend advise me on what to do when no one else was listening. So, if you are reading this because you have a sick child and no one listens... find someone who will. Since my son was born we have seen Nephrologists, Orthopaedic Surgeons, Neurosurgeons, Neurologists, Ophthalmologists, Cardiologists, a handful of Pediatricians, Orthotists, Physical Therapists, Occupational Therapists, Dieticians, and almost any other kind of "ist" there is out there. Once I finally got his first Pediatrician to admit that something was off with my child, there hasn't been a day that I haven't fought like hell to do everything that I can for him. After my last post, we decided to travel to Iowa City to see another Nephrologist. She concurred that he does have abnormal kidneys but that the scans weren't exactly the best. It appeared that they are almost on top of one another, so she doesn't believe them to be horseshoe kidneys per se but said that there was flesh where there shouldn't be any and that they definitely aren't where they are supposed to be. So, she recommended that he get a nuclear test (Mag 3) to check his kidney function and to make sure that everything is working properly. They were going to try to schedule it the same day as his next MRI (in three weeks, eep!), so he only has to be sedated the one time. Sedating your child is risky and scary but sometimes it is a necessary evil. In addition to the Nephrologist, we also managed to get the Sleep Study conducted over mother's day weekend. We took our own supplies and showed the sweet nurse how we prevented him from ripping off the sensors during his three day EEG. They managed to get the information they needed from the very little time that he slept (he woke every 60 minutes the entire night) but I am hoping that it is enough to show the Pulmonologist what is going on in Abram's sleep. We have already ruled out Aspiration but are still waiting to hear if he has sleep apnea or RLS before chalking his sleep issues 100% as an affect of his chromosomal disorder and the mass on his pineal gland. The Geneticist also called back to report that Abram's test for Noonan Syndrome came back as "normal" but that the test only catches 60-70% of the cases so a normal result doesn't necessarily rule out Noonan Syndrome but it makes it less likely. That was a $4,700 test for a maybe? So, now we are still waiting on the results of my husbands blood work to see if he is a carrier of the Chromosome 7 Deletion. If he isn't, then they will be testing for Fragile X Syndrome. We also have had a follow-up with our Neurologist who upon walking into our appointment was convinced that he would start medication for Abram's seizure-like activity but after seeing him and how much he'd improved socially and physically since our last meeting changed his mind entirely! That was a big relief. The less medicine the better because most anti-seizure medications make kiddos very sedate and his entire personality could change. Next month is another huge month with appointments and follow-ups but I am hoping that July will bring fewer doctors appointments and more fun! This is officially Abram's third summer and I plan to make it the first memorable one for him. He deserves to be a kid. If the Fragile X comes back as "normal" too, I think we'll be taking a break from the hunt for a diagnosis or a name of a syndrome for our son's affliction. Life is too short to spend it in a waiting room! Well, it is officially October. Summer came and went in a flash filled with dozens and dozens of appointments, doctors, therapists, specialists, surgeons of several varities as well as a Neurologist and a brain surgeon.Yet, here I sit with more questions than answers. We still have not been informed of the results of our first EEG and yet I was informed that they are trying to schedule a second 24 hour EEG with Video (despite my numerous phone calls).
During our wait, I connected with Dr. Shahinian of the Skull Base Institute of Los Angeles again. We had a phone conference to once again discuss Abram's case. He already had a disc of Abram's first MRI so I emailed him a large list of questions/concerns along with his most recent high-contrast MRI image of the cyst. Plus, I made a page for just our Neuros/Doctors to see on this website with videos of Abram's seizure-like episodes as well as a intensive list of past medical history and current symptoms/behaviors, etc. Dr. Shahinian told me that he felt like the videos that I shared with him are not seizures at all instead felt that they were vision disturbances caused by the cyst. Sadly, there is nothing that we can do about that at all until we are able to get the cyst out of his head. Dr. Shahinian also felt that Abram's sleep issues also have a lot to do with the cyst, due to the fact that it is on his Pineal Gland and that gland in particular is responsible for our circadian rhythms and sleep patterns. Unfortunately, there was not much more advice he could offer me at that point and suggested supplementing Abram with some Melatonin to help him sleep at night with the hopes that more sleep would curb the fussiness and agitated states that he has regularly (ahem! seemingly non-stop!). So, again I am left feeling torn. Happy to hear that a specialist in this issue feels that Abram is *not* having seizures and distraught at the fact that I can do nothing to help him be more comfortable and at ease. The Doctor even told me that he believes that this cyst WILL need to be removed but that he is not going to jump to do something invasive at this point. It seems so surreal having a child with such an issue. The fact that something is growing in his brain and there's nothing I can do about it until it causes Hydrocephalus just seems illogical. However, so does putting my child through the most dangerous brain surgery at only one year old. It's just not fair. So, in addition to seeking the advice of Dr. Shahinian, I also showed Abram's new Pediatrician the videos of the seizure-like episodes and he felt that they were definitely something to be concerned about. After discussing our son's issues with his insurance company we were hoping to be able to go out-of-state to a Children's Specialty Hospital but we are not allowed to do so until we've run the gamut of the State's University Hospital in Iowa City. Luckily, I found a great Neurosurgeon there and was able to get our Pediatrician to get us a referral there for a second opinion. I'm not sure what it is that I am looking for or what answer I am expecting to get but I just feel like my child is suffering at the hands of time and no one but me seems to think that it's time-sensitive issue. It's been nearly a month since I called our local Neurologist office to tell them of his episodes and I haven't heard a peep and it is beyond frustrating. I get and understand that they have priorities and other patients but it seems a little careless that no one can even call me back to explain anything or tell me that my concerns aren't justified if they aren't. A call from the nurse would suffice. I guess I just am feeling overwhelmed and frustrated and a little beaten down. I'm frustrated that we spent an entire summer going to appointment after appointment to not have any answers and meanwhile my son is suffering and unhappy and there isn't one thing I can do to make him feel better other than to distract him from his own discomfort for a little while with a toy or a warm bath. It's really hard not to get angry. I'm not sure to start as I feel like every single time that I have posted lately I have just been a sad Mama. Since the day Abram was born he has been fighting and he is one tough little boy but I am hoping and praying for a day when he can have a full 24 hours of feeling good. A week or a month would be even better but for now I would settle for an entire day of happiness for this little boy of mine. Abram has been having a lot of sleep issues lately. It seems like he has reverted back to an almost newborn-style schedule and wakes every night anywhere from three times to a half-dozen or more. However, his wakefulness involves a lot of screaming and sets my heart pumping full of adrenaline because he scares me out of my own sleep so badly. This poor kid just doesn't seem to be able to catch a break. With every month that has gone by since the day he came into this world it seems like another issue comes to light. It seems with the more questions we have, the less answers we get and the more hopeless and lost I feel. I knew motherhood would be hard. I knew it wouldn't be all sunshine and lollipops and I am absolutely aware that there are probably a lot of folks reading this who have it a lot worse than I do and for that - I feel incredibly selfish for even saying that right now I just feel lost, helpless and a little hopeless even. Most recently, Abram has started to have strange episodes. The first time we were just playing and he just screamed out, his entire body went limp and he flopped into his Boppy limply. His eyes were open but he wasn't there and he was not responsive and then.... just like that he was back up and playing like nothing happened. The second time I had just put him down for a nap and within 15-20 minutes he was screaming bloody murder. I ran into his room to find him face-down in his crib screaming and screaming. I picked him up and ran into the living room so I could get a better look at him and find where he was hurt. His entire body was limp, his head was just dangling there (as was his legs and his arms) and even though he was still screaming... he was not responsive to me at all and again his eyes were open but no one was home. I took him to the doctor that day and we were scheduled for an EEG that we had to wait two weeks to get. In the meantime, he had a third episode that was similar to the one I just described but his muscles were rigid and tense. After the last two episodes, he just "came to" gasped for air and fell right asleep. I've been told that these episodes could be seizures or they could be night terrors. What the correct answer is - I do not know and again we have to wait and see. Abram just had his EEG this week. I think the worst part of it was sleep depriving him, which we had to do in order to avoid sedation again. So we had to put him to bed two hours late, wake him two hours early and not allow for him to have any naps. I was assured that the EEG itself was not painful but Abram was not a fan of being strapped down to a board and having a sweet nurse draw on his head and attach the sensors. His head was then wrapped like a mummy and I was able to crawl into bed with him and cuddle him while he was supposed to be sleeping. Again, he had several wakeful issues during his EEG and at one point just sat straight up in the middle of it. It was a short EEG - only 65 minutes and then we were allowed to go home. Now we are just waiting for the results on that and I am anxiously waiting for our Neurologist to get back from Vacation so I can talk to him about some of our most recent concerns. Luckily, I still have a couple of weeks left to ask the advice of Dr. Shahinian of the Skull Base Institute in LA, so we have a phone consultation with him again on Monday. I typed up an email with a lot of our newer concerns, questions and sent him a link to some video clips that I feel are important for him to see as Abram has developed a lot of strange quirks with his eyes on top of the strange scream/sleep episodes. In other news - we are still waiting to get in with a Geneticist to figure out the cause of Abram's Hypotonia and are now working with a Dietician to make sure he is getting all of the healthy fats and foods he needs to make sure he grows up all healthy and strong. That's all for now. There will be more news after we speak to Dr. Shahinian and after we get the results of the EEG. As always, thank you so much for the support. I have found an incredible network of people who suffer from Pineal Cysts as well as Parents of children with Special Needs and I must say that it is incredibly heart warming to have people who understand what we are going through and who take the time to send a kind word whether they are across town or on the other side of the globe. Our little family cannot thank you enough for your kind words.
There are days when it is hard to stay positive. Weeks even. I try my best to keep this blog "positive" as no one wants to read "poor me" posts but sorry friends, today is not one of those days.
I try to stay focused on the accomplishments and improvements that have been attained instead of thinking of all the things we haven't gotten to yet. The truth is, the majority of the time Abram is fussy and uncomfortable. He is almost *always* fussy and not feeling good. Please do not confuse "fussy" with unhappy, though. Abram is clearly in pain in ways he is unable to express to us verbally but he still tries to smile and will still muster a giggle immediately after being bent to his extremes at Physical Therapy or after getting jabbed multiple times to give blood. He loves the part of life where he actually feels good. I just can't wait to find out how we can make them come more often for him. The last few weeks have been bad. He has been incredibly fussy, easily irritated and back to a nearly newborn schedule as far as sleep goes. I have been one tired mama. Today he had his Physical Therapy at ChildServe and we cut it short today because he was just so fussy and absolutely not having any of it. When we came home, I fed him a bottle and laid him down for a nap. Within 15 minutes he did this really scary scream/cry - the kind of scream that most parents have to pull themselves off the ceiling from... and I ran into his room. He was on his stomach, with all of his limbs stretched out, face down (but with his head turned to the side, thankfully) and he was just screaming and crying a weird cry I'd never hear before. When I picked him up his entire body was limp. He was crying like he was pain but his body was just dangling there and he had no "real tears" coming out. He was like that for what seemed like ages and I didn't know what to do. I wasn't sure if it was a bad dream, if he was really even awake and just sat in his room and rocked him. Finally, he opened his eyes up and looked at me for a little bit while I sang to him and he just let out a big sigh (the gasp,gasp... heavy sigh that kids do after a good fit) and he went right to sleep. At that point, he napped for a little while and when he woke up he was still unconsolably fussy. He wanted to eat but was acting like his bites of food were hurting him. So, I decided to run him to the walk-in clinic where as (un)luck would have it, our old Pediatrician was the walk-in doctor for us today. I hadn't seen him since I ditched him for another Pediatrician, so I felt awkward at our encounter but I'm pretty sure he has no clue that I've been seeing another Doctor for the last six months. Anyway... I wasn't too thrilled that he was the doctor we got since he never noticed any of the issues we are having and didn't agree he was behind on his milestones until he was 10 months old. Alas, that's who we got and he gave Abe a thorough exam. He said that he was "fine" physically and had no ear infections/issues so due to the fact he has so many other issues going on that he was going to refer us to get an EEG done on him now as well. The Doctor was thinking that perhaps he was having a mini seizure (as this has happened on a less grand scale one other time, during the day as we were playing). He sent us on our way and told us to expect a phone call from a Nurse telling us the time/date of the EEG appointment. I went ahead and called the Neurologist and spoke with his Nurse about what happened today. So at this point, we are waiting for him to look over things and he will getting back with me on what he wants us to do. Some seizures can be common in infants but adding this to everything else that is going on with his Pineal Cyst Lesion and his Hypotonia (and lack of knowing what is causing it) and I am just concerned that this can be another symptom of whatever it is that seems to be missing from this puzzle. As I have mentioned before, Hypotonia is typically a cause of an underlying disease and disorder so until the things I fear get crossed off the list our Neurologist has in mind - I prefer to stay on the side of caution! When I saw my son like that, I nearly came out of my own skin. Holding your child and having them be non-responsive and just dangling there conscious but unconscious is really quite scary. However, I remained calm and did the best that I could in that situation. I'm just hoping that it gets figured out quickly. I'm so tired of having another "bad" thing happen. I've already had one good cry this week that resulted in a regretful migraine so instead of another good cry - I'm staying strong and doing what I can to help my son. It was a rough day but this little man still remains in good spirits! He can be having a terrible stay and still find the time to give a smile or make a goofy face. Even if he follows it up with his infamous "beagle howl". It is these little moments that make all the scary moments worth all the fear and anxiety. If he can still smile and laugh after all that he has been through in his short little life.... than this Mama can get him through anything. Enjoy the video. :) |
About MeHello! My name is Erin. I am Abram's mom, a tireless advocate for UBE2A Deficiency Syndrome and a fierce proponent for medical cannabis. MOST POPULAR BlOG ENTRYJOIN US
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