<<< That is Abram during his EEG when his Gramps called him to check in on him! He got so excited!
I haven't put an update on here in a little while. Life has been insanely busy and hectic.
The Short Version is: we are still waiting on the results of Abe's most recent EEG as well as the results of the first MicroArray test we did at the beginning of November.
(If you want to hear all the Blah Blah Blah...)
The Long Version Is:
We are hoping that with the results of both tests we will be on the right track as to what we can do to help Abram the best we can. We are hoping that the results from the MicroArray Test will give us some answers and guide us in answering why Abram has Hypotonia along with Sensory Processing Disorder, Macrocephaly and a host of numerous physical markers that our Developmental Specialist pointed out. From what I have learned though, Genetic testing is a long long road to find an answer and we may never be able to FIND an answer... which makes it a daunting task.
I've had a lot of folks ask why we chose to go ahead with genetic testing since there is nothing we can do to "fix" it even with a diagnosis. So, I just want to sort of explain that even if there is no "cure" or way to "fix what is wrong" the point of the testing is to rule out certain other genetic defects and syndromes and to know what to look out for in the future. Knowing what "it" is will help us to know whether our son faces other serious ailments we would need to know to watch out for (like heart defects) or to know if his life span will change. I honestly had to STOP reading through all of the Genetic Defect information because almost all of them are scary, have heart issues and shorter life spans.
To the mamas reading this who are going through this same thing - I'm just starting on this journey but your help, kind words and advice have been so helpful and have meant more than you will ever know. Not many people know what we are going through and it seems like every single mama I have met who just KNEW something was "off" about their babies were deemed crazy by friends, family and even their doctors. It has been a non-stop confrontation to even get the help we needed from certain hospitals but having this little boy to fight for has changed me entirely as a human being. I am now aggressive about our needs and expectations when it comes to our son's medical care!
To the mamas reading this who may think there isn't something right with your child trust your gut. Go with your instincts. You know your child the best. My son had a rough start but even after he was deemed healthy enough to go home from the NICU, I knew the first night home that something wasn't right and I haven't stopped fighting since. If your Pediatrician isn't doing their job, get another one and ANOTHER ONE until you have someone that sits down and listens to you and looks at your face when you are telling them what is going on. Film anything you can that shows any behaviors or things that you may think are a little strange. Document everything. If they still don't want to help you - file a complaint. These are all things that I have had to do and have done in the last five months. I had to become a pest in order to get the care my son deserved to get in the first place!
In addition to waiting for the blood work to come back from the Geneticist we are also waiting to hear back from our Neurologist regarding the results of his most recent EEG. Two weeks ago we were admitted to the Children's Hospital for what I thought would be a 24 hour ordeal and we were unable to leave for three days. It was a loooong three days too. Poor Abe didn't know what to do all connected to a little machine and he did not sleep much so by the second night he was a wreck and officially traumatized by all people in scrubs or white! He still won't let me touch his head and there is one patch of glue left but sometimes you just have to pick your battles. Our Neuro saw him the second night and was concerned because of how he looked and kept repeating he wasn't himself. In the three days he was there he had five of his episodes and when they occurred, we were to hit a button on his equipment so it would mark the video and the EEG on where to look extra closely so we can try to rule out seizures.
Our Neuro did mention that the one we marked the first night did NOT have peaks on the EEG so I am hoping that Dr. Shahinian (the Skull Base Surgeon) is correct in thinking that the vision disturbances he has are due to the cyst in his brain and not seizures at all. I obviously don't want my son to be having either but it would be a relief to know for certain that his episodes are not seizures just so we can check that off of his list of symptoms.
So that's where we are! STILL MORE WAITING!
Well, it is officially October. Summer came and went in a flash filled with dozens and dozens of appointments, doctors, therapists, specialists, surgeons of several varities as well as a Neurologist and a brain surgeon.Yet, here I sit with more questions than answers. We still have not been informed of the results of our first EEG and yet I was informed that they are trying to schedule a second 24 hour EEG with Video (despite my numerous phone calls).
During our wait, I connected with Dr. Shahinian of the Skull Base Institute of Los Angeles again. We had a phone conference to once again discuss Abram's case. He already had a disc of Abram's first MRI so I emailed him a large list of questions/concerns along with his most recent high-contrast MRI image of the cyst. Plus, I made a page for just our Neuros/Doctors to see on this website with videos of Abram's seizure-like episodes as well as a intensive list of past medical history and current symptoms/behaviors, etc.
Dr. Shahinian told me that he felt like the videos that I shared with him are not seizures at all instead felt that they were vision disturbances caused by the cyst. Sadly, there is nothing that we can do about that at all until we are able to get the cyst out of his head. Dr. Shahinian also felt that Abram's sleep issues also have a lot to do with the cyst, due to the fact that it is on his Pineal Gland and that gland in particular is responsible for our circadian rhythms and sleep patterns. Unfortunately, there was not much more advice he could offer me at that point and suggested supplementing Abram with some Melatonin to help him sleep at night with the hopes that more sleep would curb the fussiness and agitated states that he has regularly (ahem! seemingly non-stop!). So, again I am left feeling torn. Happy to hear that a specialist in this issue feels that Abram is *not* having seizures and distraught at the fact that I can do nothing to help him be more comfortable and at ease. The Doctor even told me that he believes that this cyst WILL need to be removed but that he is not going to jump to do something invasive at this point. It seems so surreal having a child with such an issue. The fact that something is growing in his brain and there's nothing I can do about it until it causes Hydrocephalus just seems illogical. However, so does putting my child through the most dangerous brain surgery at only one year old.
It's just not fair.
So, in addition to seeking the advice of Dr. Shahinian, I also showed Abram's new Pediatrician the videos of the seizure-like episodes and he felt that they were definitely something to be concerned about. After discussing our son's issues with his insurance company we were hoping to be able to go out-of-state to a Children's Specialty Hospital but we are not allowed to do so until we've run the gamut of the State's University Hospital in Iowa City. Luckily, I found a great Neurosurgeon there and was able to get our Pediatrician to get us a referral there for a second opinion. I'm not sure what it is that I am looking for or what answer I am expecting to get but I just feel like my child is suffering at the hands of time and no one but me seems to think that it's time-sensitive issue. It's been nearly a month since I called our local Neurologist office to tell them of his episodes and I haven't heard a peep and it is beyond frustrating. I get and understand that they have priorities and other patients but it seems a little careless that no one can even call me back to explain anything or tell me that my concerns aren't justified if they aren't. A call from the nurse would suffice.
I guess I just am feeling overwhelmed and frustrated and a little beaten down. I'm frustrated that we spent an entire summer going to appointment after appointment to not have any answers and meanwhile my son is suffering and unhappy and there isn't one thing I can do to make him feel better other than to distract him from his own discomfort for a little while with a toy or a warm bath.
It's really hard not to get angry.
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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