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.
Just forty-eight hours after our last trip to the Urgent Care Clinic we found ourselves back there again today. Thankfully, today it wasn't (what could have been) a seizure. Today we were lucky enough for his ailments to actually be able to be treated with antibiotics.
He's been fussy a lot lately as I talked about in my last post but today it just seemed relentless. He refused to eat his lunch and then only wanted to cuddle (which I soaked in every second of) and he napped on me for a a good two hours. When he woke up again he had gotten worse and was hot to the touch. I took his temp with our (what will now be in the trash) "electronic" thermometer and it read 97.1 but he was flushed, his cheeks and stork bites were bright red and his skin just looked weird.
I got him to the Urgent Clinic where I had called and asked his Dad to meet me at and he was screaming so loudly we got into a private room almost immediately and his temperature was 103. We met a different Doctor this time than usual (at the same Pediatric Clinic we go to) and he seemed like a really nice (and concerned) kind of doctor, which I made sure to tell him that I appreciated his bedside manner. Anyhow, it turns out that Abram had some sort of virus but he thought that it was odd that he had a high fever with an ear infection so he is now on a round of antibiotics and I am trying to keep him comfortable with infant meds.
Poor Guy! I feel so bad for him. He is so miserable and there is nothing that I can do to help him other than give him cuddles and make him food he can tolerate. I just keep hoping he'll have a good few days but it seems like it is typically mostly bad/painful days with good days spread far and few between. No kiddo deserves to feel like this all the time. I can't help but to wonder "why my kid?!". He's had such a rough start and when I think about his birth and how hard he's had it since day one and I just get sad.
I just want him to feel good and be happy and feel comfortable. I just want him to know what it feels like to *not* feel sick or in pain in some way for more than 1/2 a day. It's terrible watching your child dealing with everything he has had to deal with. It is just not fair.
In other news, we are still waiting to hear when our EEG will be but our Neurologist said to let him know when and where because he wants to get the report right away. So there's that.
I think I am just feeling worn thin. I'm tired and had better get to bed. I have a feeling it's gonna be a looong night!
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. :)
.Well, it is official! Abram is finally crawling at 13 months! It is so exciting and terrifying at the same time because now he wants to go-go-go! You can tell that he is so proud of himself and he often just crawls across the room and lays in the hall staring at the ceiling, proud of his new victory.
We are always super busy so it seems like we rarely get to make time for anything else other than his much-needed nap times and all of his appointments.
Things have changed up a little bit now that school is back in session so now he gets Early Access on Mondays (altering Physical Therapy and Occupational Therapy every-other-week) and on Tuesdays he gets to go to ChildServe for his Physical Therapy in their cool gym. I like both kinds of therapy for different reasons though. With Early Acess it seems like Abram is less-likely to have a meltdown because he is in his own environment but at ChildServe he gets to be in a place with other kids who are getting their Physical Therapy too so he will grow up seeing that there are other kids with similar struggles.
Abram is having a hard time adjusting to his glasses and it seems nearly impossible to keep them on a one year old baby. His Occupational Therapist joked that it was a good use of isolating his thumb but not for a good reason! He just yanks 'em off even with the band that is supposed to help keep the suckers on! He just sticks his thumb under the frame and yanks it right up and off. Sometimes it gets stuck on his (ahem, large!) forehead but he howls at me to take care of it for him and to his disgust I put them right back on. We keep getting into trouble for him not wearing them enough but Abram is persistent and seems to have more patience than his mama! But we'll get there!
His foot braces really seem to be making a big difference. The "poofiness" of his feet is slowly starting to go down and now that he has a pair of shoes that actually fit (his first pair was a size and a half too big) he can get around a little better! With the old pair, he'd get frustrated that he couldn't even try to crawl because he'd get stuck on his shoe! Now he's ready to go and is getting better at letting his Physical Therapists do the weight-bearing exercises with his legs. Even his Neurologist confirmed that without them on, Abram will bend in half - doesn't even want his feet to touch the ground - unless he has his braces and shoes on. Apparently, that issue has a lot to do with his Hypotonia so I am really hoping that we can figure out the cause of that so we can get him on the right track/treatment for that if there is more to it than what we are already doing. The Orthotist even gave him a pair of seamless socks because with his sensory issues, the seams on socks drove him nuts! I looked into getting him another pair and they are $15 a pair! What?! So, I think that will be on the wish list for Santa!
The good thing is, I have received a lot of positive feedback for catching it so early and how much he will benefit from that so that makes me feel like a proud mama. It just proves that a mother's instinct is ALWAYS RIGHT. If you feel in your heart that something isn't quite right or that something is "off" about your child, please, please, please get a second opinion. We definitely got a second opinion! Not to mention a third and a fourth! Keep trying until you get someone who will take a vested interest in your child. I cannot explain what it means to me that I have had numerous people in the medical fields reach out to me, personally, on their own time - just to discuss my son, how we are doing and how things were progressing with my child. We have an excellent Pediatric Neurologist, Opthamalogist, Optometrist and Chiropractor who have gone out-of-their way to let us know that they have our son's best interests in mind and truly care about his well being. I honestly thought that care like that went out the window after the experience/TRAUMA we had at his birth so if you are one of them... and you are reading this... THANK YOU. Your kindness has made me cry more than once.
Things are looking up. Things are happening! Abram is improving and learning new things every single day and the best part of all of our news is this: The Neurologist told us that his MRIs show NO permanent brain damage to my son's brain and that he interacts like a "normal" child. He just happens to be trapped inside a body that doesn't quite want to work yet but we are trying to figure it out! So, now we are on a witch hunt of sorts to figure out what is causing his Hypotonia. Unfortunately, Hypotonia is typically the side-effect or cause of another underlying disease so now we are on the (very long) waiting list to see a Geneticist to see if we can rule out any Diseases/Disorders.
Anyhow.... I guess the point of this blog is to say HOORAY! Abram is crawling! (In your face Mr. Orthopaedic Surgeon who told me that we could "do physical therapy until we're blue in the face and it wouldn't make a difference". You were wrong.) It's amazing what a positive attitude and the absolute inability to "give in" to what ONE doctor tells me. My son is crawling. And he WILL WALK, I am sure of it.
Many thanks to all the amazing people I have met along this journey and all the people who send me kind words. It is much appreciated the one thing that makes my days brighter when we're having a bad day/night or week! You're the best.
Hello! 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 ENTRY