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!
Hello! My name is Erin. I am Abram's mom, a tireless advocate for UBE2A Deficiency Syndrome and a fierce proponent for medical cannabis.
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