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!
Here are two wonderful people and unless you read my previous blog entry you probably have no idea what is going on here!
Long story short... this is "Stella" and our buddy Mark. Stella is the fantastic woman who until the night she shaved her head - did not even know our family!
So yeah, she shaved her head for donations to help our family with our son's medical expenses and then dressed up like Mark for Halloween! It is THE BEST costume I have seen although I think I want to force a Flash Gordon group costume next year. :)
Many thanks to Stella for raising over $800 for our kiddo! You are one amazing and selfless person. Wishing you all the best!
This is a long over-due THANK YOU to the folks who helped organize and throw the Playdate for Abram Silent Art Auction, the amazing Leanne Kamberg (and crew!) who has a heart bigger than anyone I know (who dreamt up this awesome thing) and to all the folks at The Fremont who have been nothing but supportive throughout all my ventures!
To be honest, I literally hadn't gone into a public place to see my friends since the night I closed my business in March of 2012! After Abram was born things just never seemed to calm down or slow down and with no family in town to help.... we just don't get out much! I was having a major anxiety attack after being a recluse for that long!
However, immediately upon arriving I was greeted by friendly faces, huge hugs and tons of kind words. I felt better and uplifted and brave enough to walk inside and see what was happening. The minute I step in the door, I see Stella and she whispers in my ear that she'd already raised over $700 by allowing the patrons of The Fremont to take swipes at her head with the clippers for donations!!! This beautiful woman and kind individual literally met me at that very moment. She didn't know me or my son but she wanted to HELP and she went BALD for it! It was such a touching and endearing thing to do and I will NEVER ever forget her.
It took me a good hour just to make it past the front of the venue and into the spot where the Silent Art Auction was happening and where Leanne was presiding. I was overwhelmed by just how many amazing things people had donated! Old friends, strangers and even out-of-state people sent stuff in to help raise money for our son's medical expenses! All of it was amazing from original paintings (including Herman Munster) and sculptures to unique clothes, dishes, handmade dolls and beautiful handmade jewelry. I only made it half-way around the room before I was bawling and collapsed into Leanne's shoulder bawling as Jen Allen was singing. It was just so overwhelming.. having that feeling of that much love coming from so many people who care about what happens to my family and my son without even knowing me... it just took my breath away. I had to finally excuse myself and go outside to get a hold of myself!
On top of all of those great things, there were also bands who donated their time to entertain during the event and our good friend Andrew cooked up some amazing food and served it up all night long to all the hungry patrons to get even more donations for Abram! We are beyond lucky to have such kind friends in our lives!
To all the phenomenal people, artists, musicians, hand crafters and everyone else who came out to support us, THANK YOU SO MUCH! Abram's scrapbook will have a special section dedicated to that night and what our friends did for us! It was a great night and everyone involved should be proud! They raised over $2,700 that night and when Leanne came by to give us the last of the donations, she informed us that someone had bid on, won and gifted us a great handmade quilt! It turns out, it was the Mama of the woman who shaved her head for Abe! We are so grateful and lucky to know what true friendship and what COMMUNITY is truly about. So if you are reading this - that means YOU! Thank you from the bottom of my heart.
To Leanne, Michelle, Dan, Andrew, Meagan Tron, Stephanie O, Brooke... thank you so much for making that happen! Love you guys.
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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