Hello, Everyone. Today we went and got yet another opinion from our local NeuroSurgeon. He was a very nice man and I cannot complain about him or his bedside manner. He was very kind and concerned but unfortunately he did not have anything new for us to learn. However, at least there is finally some consistency amongst the doctors that I do trust and he denied that there was "fluid all over his brain" like the other Neurosurgeon noted. Luckily, I decided that in order to prevent myself from going absolutely insane I CANNOT concentrate on all of their differences in opinion. I can only focus on the similarities in opinion or continuing care and what will be the best option for our son. Right now the only thing we can do about Abram's cyst is to know the symptoms and signs of any worsening Neurological issues, to call 911 if said neurological issues happen and then to follow-up with another MRI in six months to check for growth. That is it. That is literally our only option. It is a hard pill to swallow but it is what it is and I can't let the weight of that bring me down. Sadly, this fight to get an answer about the lesion in his brain has veered our family off onto another path with what is now assumed to be a "genetic and chromosomal abnormality" in our son in addition to the cystic lesion of the pineal gland in his brain. The brain lesion and all of his "global" developmental delays are completely separate issues needing to be dealt with. It was difficult realizing that something else is causing the rest of his issues when I hoped I would be able to blame his condition on the brain lesion. To hear that your child has a "genetic or chromosomal abnormality" just brings fear to your heart, a million more questions about other defects and most importantly what my child's expected life span is. This realization is especially paintful because there is no "cure" for genetic abnormalities. The only thing the Doctors can do for our son is to offer him symptomatic treatment (which we have already been doing since he was 10 months old), preventative measures for heart defects, etc and to assist his father and I in finding a good support group where we'd be able to meet families going through a similar struggle. I often hear, "I don't know how you do it" as I am sure most parents do. Although for me, it means a little more than a kinder way of saying "your kid wore me out". In fact everyone who has been able to spend a significant time with my son on a bad day has told me that they don't understand how I am functioning and for me it just is a relief to hear that they get it. Obviously no one wants to be the parent with the child that screams non-stop and be the receiving end of all those judgemental people and parents out there but having the confirmation that something isn't right after having to fight so hard the last 16 months is a relief. I have no choice other than to hold back the tears and fight as fiercely as I can to ensure that my son gets the medical attention that he needs and believe me, I have fought. I do it because I am Abram's Mama and I made a committed and purposeful choice in bringing this little boy into the world. It is my job to make him feel better and NOT being able to do that has been the hardest thing I have ever been through and will continue to go through. I just want our son to be able to say that he is proud of us for doing our best and loving him as much as we could. I just want him to live and love life and be happy so hopefully we are finally on the route to more answers so we can help him accomplish all that he wants to and more. 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!
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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