In GOOD POSITIVE NEWS - life is not all scary and overwhelming all of the time! We have made great strides in Physical Therapy and Occupational therapy and discovered that with the use of a compression vests and compression clothing Abram feels more comfortable in his environment.
The first day that our in-home therapist brought over a pair of compression pants, ABRAM STOOD for the first time in his life. He literally will not put weight on his legs on his own, nor will he put his own legs down if you are holding him to try to get him to stand - he just simply bends in half if you try.. but that day with those compression pants on he went from sitting on my knee TO STANDING without any help on my part at all and even stood at his musical toy and played for a little bit! It absolutely wore him out and it didn't last very long but he DID IT. My son stood at 16 months old and I cried. It was wonderful.
I WILL be getting a picture of this! You gotta see him all snug in his little pants! We are currently borrowing compression pants and a compression vest from Early Access but ChildServe is helping us with our insurance to get him his own compression outfit from Spio. Hopefully insurance will approve his garments and we can work hard at home to get him up, standing and walking! Our Neurologist promised to take us out for dinner if Abram is walking by our next appointment!
Two weeks ago we had our big Developmental Assessment at the CDD in Iowa City. My husband couldn't go with us, so my mom drove up the night before and went along with me since the appointment was right at 8:15 in the morning and from our house it's an almost two hour drive to get to the University Hospital!
I didn't realize that there would be "campus traffic" at that time in the morning and got a little lost but hey... we found the place and they had free parking and we got there right in time, so I can't complain too much.
We were admitted immediately and we were put in a huge room with lots of toys and space for Abram to crawl around in. We immediately met the Hospital's Social Worker (who tells you about the help you may qualify for and gives you information on how to go about getting it). Then we spent the next five hours talking to Occupational Therapists, Speech Therapists, Physical Therapists, Dieticians, Nurses, Audiologists and then finally the Developmental Specialist who performs a thorough exam and tells you what the professional opinion is and what to expect next.
The Developmental Specialist told us that she believes our son has a Genetic Chromosomal Abnormality. She pointed out a variety of physical things our son has going on including his far set eyes, the shape of his eyes, his wide nose bridge, small chin (with tongue-tie), hypotonia, the creases in his hands (he has a single transverse palmer crease), his Macrocephaly (his soft spot is large/not closed on his forehead) and showed me that his feet are not in line with his ankles.
Obviously it was not the best news to get because there is no cure for a genetic abnormality. The only thing you can do in these scenarios is to prevent and/or treat the symptoms that the syndrome causes. It was definitely hard news to hear but I was slightly relieved to hear the Doctor say that she knew something was wrong and there is likely a name for it. The only step we could take at that point was to start our journey into Genetics.
Before we left that day, they took Abram's blood and are sending it off to do a Chromosomal Microarray which will test his chromosomes for certain markers and will which in turn will hopefully be able to tell us which Chromosome may have the genetic abnormality. I believe we will be waiting quite a while to get the results back from that but IF it comes back with something we will get into a Geneticist ASAP and won't have to wait until our appointment in February which is the only good thing in this scenario. I am certainly not happy that my son may have a genetic abnormality but I am going to relieved to be able to refer to it by name, help improve the things I can and work my hardest to prevent any issues that this syndrome may cause. The doctor warned me about possible heart defects and after reading up on many of the symptoms my son has vs the possible syndromes it could be, I have learned that many of these syndromes also come with shorter life spans.... but I cannot even bear to think about that right now at all. Even if that is true there is nothing I can do but what I am doing... and that just means being the best Mama I can be.
With that, I have had a lot of people ask if this Chromosomal Abnormality has anything to do with his Cystic Lesion of the Pineal Gland and the answer is a resounding, NO. Unfortunately for us, these two issues are separate problems for our family to deal with. Ironically, our Neurologist called us back in (earlier than our expected appointment) due to the fact another toddler in the city (who has the same thing as Abe) became symptomatic (when the medical field keep telling us that these cysts rarely cause syndromes and that they are typically "slow growers".) Unfortunately, if they do become symptomatic the only solution is to have your child go through the most invasive brain surgery there is due to the fact that the Pineal Gland is located precisely in the middle on the underside of the brain! Ugh!
Anyhow, I updated our Neurologist on all the information we received at the CDD and he agreed that Abram may have a syndrome and/or disease that needs to be dealt with in addition to the issues he has from the lesion on his pineal gland (sleep disturbances, possible seizures). He also informed us he that he has decided to refer us on to a local Pediatric NeuroSurgeon to get a second opinion, "just to make sure" to which I am relieved. After our experience with the last NeuroSurgeon I am looking forward to meeting a local NeuroSurgeon that came at the request of a Neurologist who sees that my son has some major issues and is trying his best to help our family! Luckily, we got in right away (this coming Thursday) and I am anxious and nervous to hear what this man will say. He will be the third NeuroSurgeon to look at his scans so I am hoping that the third time's the charm in getting a consistent answer. Please!?
So, that's where we are! Genetic Testing and a Neurosurgery appointment, which is exactly where I wanted to be so that is good. With more appointments come more questions but I do finally feel like we are going in the right direction to getting our son the help he needs the most! Yay!
Today we made the drive to Iowa City to see a Neurosurgeon and a different Neurologist for a "second" (ahem, third and fourth) Neurological opinion. It's strange to feel excited or anxious to meet a Neurosurgeon but after reading about his Academic Background, I felt like he had a background that would cover the bases with what our son is suffering from.
Instead, I got a barrage of strange questions including: What I do for work, What I did before that, Have I been around Chemicals, Did I do drugs when I was pregnant, etc etc. He seemed very disinterested in our son, didn't pick him up, barely touched his head (just measured his soft spot) and immediately dismissed us telling us that what is wrong with him is part of a "bigger picture" that the cyst has nothing to do with his symptoms and that what is wrong with him happened to him in-utero and that we do not need to come back. He also informed us that our son has fluid on his brain (all over his brain) and that it is not hydrocephalus and that the cyst will need to be monitored with yearly MRIs.
This information was all talked AT me while he either a) kept his eyes closed shut while speaking to me or b) staring at my tattoos with a look of absolute disdain on his face. (Typically I cover up my tattoos in front of folks like that (and even my Grandpa until last year!) but it was so ungodly hot in there, I was sweating profusely and the coffee was kicking in like crazy.) I was offended, disgusted, outraged and near tears. Livid, actually. But we were quickly shooed out of there and weren't even made to check-out. I basically felt like I had been attacked, blamed for my son's condition and quickly excused. He didn't even shut the door during our consult. Needless to say I was and am extremely disappointed. *sigh*
After that appointment, we we had to wait around a couple of hours to see the second Neurologist at the Specialty Pediatric Clinic and I did like his bedside manner. He seemed hurried but he was more thorough than the Neurosurgeon (clearly) and asked more about his birth than anyone else has. He also took a look at the MRI and told us that the cyst is not causing his problems, that is is *almost* a "normal" kid and that he will most likely "grow out of it". He said that he would not recommend genetic testing or the 24 hour video EEG that our local neuro has ordered. Again - completely different diagnosis. I want to rip my hair out.
So this is what we are left with:
So what are we supposed to make of this?! We have a Physical Therapist who admits that our son is hard to deal with and that she couldn't imagine having to have a child like him in her home full-time. The other Physical Therapist has had such a hard time with him she wants to co-teach with another Occupational Therapist (the best one at the outpatient service we use) because the first person who got assigned his case turned it down as she didn't feel that she had enough experience.
People that are around him the most see that he is fussy and has a lot of issues so I am so frustrated and torn on which opinion to believe! I was hoping that out of them all at least two would have a similar diagnosis but that just hasn't happened and then we as parents are left here standing all of the (mis)information trying to figure out what is best for our son?
Who am I supposed to believe? I know in my heart that what my son is doing isn't "normal" but it would sure be nice to jump on that boat of denial. I would like to think that the cyst isn't causing issues but no one can seem to come up with another cause that could be causing him so many issues. The Neurosurgeon today is the first one claiming that our son has fluid all over his brain. If that is true, why haven't the two radiologists and the three other Neuros mentioned it?! I'm convinced that no one knows a god damn thing. I'm pretty sure that in back of the offices somewhere is a spinning wheel with different diseases on it and they throw the freakin' dart. Nah... if that were the case... I'm certain we'd have better odds of getting the same answer.
God damn it. I guess it's just back to more waiting.
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.
Today was a pretty good day. Abram had his first private Physical Therapy appointment at Child Serve that went really well. He seemed to really like his therapist and didn't start getting fussy until the very end but it involved the touching of a rubbery item which always seems to send him over the edge! This little man definitely has some sensory issues with items made of rubber and things that are squishy! The best part about the PT was the fact that his therapist was so impressed by how much he had improved since his evaluation! Since June he has been able to sit up, pivot and go from sitting to hand-and-knees and back! So, he is getting all new goals written for him which is a great feeling!
Then he had his Occupational Therapy at home today as well! The two therapists that come for that are so enjoyable and Abram likes playing with them. Today they brought him a great sensory toy that involved a container of rice and toys in which he wanted nothing to do with but he did show them how he likes to take toys out of containers and bang them together which was one of his short-term goals so this kid is rockin' it lately!
All of the therapists were excited to hear that Abram did his first "crawling" yesterday. He didn't go far but he definitely crawled and we were so very excited to see him do that! Of course, he would not replicate it for anyone today but just seeing him do that was such a HUGE deal to us! He is still not weight-bearing on his legs but that will come with time. He's got to get the crawling down first and then the weight-bearing and walking will come. With his new little foot braces and the exercises I was shown to do with him, he should be making great strides by his second birthday! I'm hoping he proves us all wrong and walks by the Holidays but I don't want to jinx him. He's just been such a badass little boy lately! He has taught me so much about the value of patience!
The best news of the day came from our Neurologist today who informed us that Abram's cyst is hopefully "benign". So for now, his diagnosis is NOT cancer which is a big relief. He does still have that thing in his brain and it can grow but at least with it not being cancerous gives us more time to save money and more time to research who the best-of-the-best is when the time comes to get the cyst out of his little noggin. The scary part was when I asked him if the cyst could turn into cancer and he told me that he couldn't say. (Again, this is a justifiable concern as it just happened to the only other male born on my father's side.) The worst part is the fact that that thing is in my son's head and the only answer we have right now is to wait for it to grow. No one wants to open up a child's head when as of now, the only symptoms he has are hypotonia and farsightedness. So, we were told just to wait and see if Abram complains of headaches (once he starts talking) and to make sure he isn't "walking around like a drunk person". The only way that they will recommend him for surgery is once that cyst starts compressing on things and causing other life-threatening issues like Hydrocephalus. It's all so scary and frustrating. So... the only thing we can do is hurry up and wait and in the mean time just keep on working away at his developmental issues!
Yep! So that's where we are everyone! Good news with bad news and the unknown... but we are doing everything that we can for this little man to have a good life and that is all that matters! His fall/winter will be filled with lots of appointments as he will be getting Physical Therapy and Occupational Therapy twice a week and once his Speech Therapy goes into effect we'll be having even more appointments.
When I closed my shop I was really torn and heartbroken but now I know that I made the right decision. Everything fell into place for a reason. I am lucky beyond belief that I have a soon-to-be husband that makes it so that I can be home with our kiddo and take him to all the places that will benefit him the most. I definitely believe that all things happen for a reason and that maybe some day we will know why Abram has had to go through so much at such a young age but until then.... we'll just keep working hard to make him as happy as can be! Thanks for reading - and for caring! xoxo
I have come to absolutely LOVE Tuesdays, as these are the days we alternate Occupational Therapy with Physical Therapy! Today his two teachers/Occupational Therapists came to introduce to him a new realm of toys to help him with his sensory issues. What's best is the fact that these ladies are teaching ME so much on how to deal with him being freaked out by certain textures and how get him to play with toys that typically would for no better explanation - freak him out.
You know how you always see the home videos of kids devouring their cake at their birthdays or grabbing handfuls of food to shove in their face? Not this kid. When he touched the frosting on his little cupcake at his birthday party he pulled his hand back in absolute disgust and looked as if he had stuck his hand on a cactus. He did not enjoy it and he wanted to have nothing to do with his cute monster themed cupcake.
So today, the Occuplational Therapists introduced new toys and textures to him to see how he'd react. There were a few toys he wanted nothing to do with (a squishy rubber frog and two things resembling kush balls) but he enjoyed playing with a crinkly mylar balloon, a small slinky and a crinkly spiral ribbon that looked like an old gift wrapping bow. He does not do squishy, apparently.
It was interesting to watch how he'd explore the toy with his feet and how he'd hide his little hands behind his back so the icky toy couldn't touch him. However, if it was a toy he became okay with, he would eventually grab it to further inspect it with his hands. He of course is a baby and gets bored easily so within the course of an hour we did a lot but they are confident that they are seeing great improvements in his behavior so that made this mama feel pretty good about that end of things.
I try to spend the majority of my day with him on the floor playing. He loathes walkers, jumparoos, bumbos and the door frame jumpers. He does not like the feeling of just being stuck in something at all. Our PT advised us against the use of those gadgets and advised us to stick with floor time and it seems to be paying off even though my neck and back may disagree.
Right now, Abram just turned one and is functioning at about a six month old level. I'm okay with this considering when I met these ladies Abram couldn't sit up at all and wasn't even attempting to crawl. He can now eat a variety of foods (not just purees) and he moves in with his mouth to indicate that he wants more. He still can't pick up small foods or drink from a sippy but he can finally hold his own bottle so that is one hurdle I consider conquered. If I concentrated on all the things he *can't* do I would become overwhelmed and wouldn't be able to see the importance of all the little things.
So, he might not be hitting his milestones but he is learning and improving every single day and those are the moments that matter the most.
Hi! I'm Erin. I'm Abe's mama, a tireless advocate for UBE2a Deficiency Syndrome and a fierce proponent for medical cannabis.
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