I had written a blog entry about Abram's Diagnosis that we received on New Year's Eve. I had made it my mission to find out what 'it' was that was affecting my son's development by the end of 2013. We'd been fighting for an answer since the day he was born in the summer of 2012 and I was not expecting the flood of emotions that I would feel after getting a diagnosis that involves a rare chromosomal disorder due to a micro deletion of Chromosome Seven; labeled as 7q31.31.
This diagnosis explains many of Abram's other diagnosed issues such as global developmental delay, his hypotonia as well as quite a bit of his behavior issues but unfortunately the Macrocephaly and the Cystic Lesion in his brain are unrelated. Alas, we are doing all that we can do to monitor that situation but I must admit that as I was reorganizing Abe's medical records yesterday, my gut dropped to see pineocytoma there in black in white under what we discussed with his Neurosurgeon in November.
I think I've been in a bit of a shock. I read and re-read the pamphlet from Unique about the commonalities of diagnoses, symptoms, etc and it was relieving to read quotes from parents who have children with a similar diagnosis. A lot of what seemed unanswerable to most of our doctors was explained, finally. I was prepared to get not so good news and even though these issues of Abe's are life-long problems, it was a big burden off my heart to know officially that this was indeed just how my son was made and not caused by his traumatizing birth. There was nothing I could have done to prevent his disorder and that alone was worth the struggles and fight we had to get here!
It hurts deep to know that the things that make your son hurt and struggle cannot be 'fixed' or 'grown out of'. It is world crushing news. It is hard and it hurts and I have days where I felt like I was ready to be okay with it and other days where I wanted to feel sorry for myself, my family and my son. Last Monday, I talked about my feelings with my favorite AEA gal and she made me realize that its okay to grieve, that it IS painful and that in order to move on, I needed to grieve that loss. It was then that I realized I hadn't let myself cry and that my husband and I hadn't even really talked about it. It hurt too bad. Friday we finally talked about everything. l had a good cry and I woke up in a different place and am trying hard to stay there.
Abram is a lot more than a long list of symptoms and diagnoses. He is a wonderful, brilliant little boy whose smile lights up the room. He is clever, funny and spontaneous and has already taught me a great deal about the importance of living in the now and the value of patience and persistence. He has come a long way in the last six months and I can't wait to see how far he goes with his therapies in 2014.
I am thankful for my little boy and all the amazing people he has brought into it. Motherhood has been a crazy ride so far and I wouldn't change any of it for the world.
<<< 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!
Hi! I'm Erin. I am a single mom, tireless advocate for UBE2a Deficiency Syndrome and a fierce proponent for medical cannabis.