To sum it up: I am pissed. I am so frustrated with the medical care my son has gotten since Day One. I am so tired of people being completely oblivious to the fact that even though we (as a Country) feel we live in such a great place with medical help - the fact of the matter is - it depends wholly on what insurance you have and how much money you'e got. If you or your child has a major health care issue and cannot afford private insurance on top of the Medicaid your child qualifies you are screwed. It's even worse if it's rare. It seems to me that the doctors we have dealt with personally, would much rather tell you "I don't know" than actually do some research to try to educate themselves so that maybe they could offer some words of advice. Instead, they just point their finger at the next Specialist and send us on our way. To help you understand my frustration, here is my breakdown in dealing with Neurology, Neurosurgery an Genetics: Almost 18 months ago, I was told that my son had a Pineal Cyst. I was told that they are "notoriously slow growers" and that it most likely wouldn't grow at all. However, we were sent to another hospital for a follow-up MRI with a Pediatric Neurosurgeon. When we checked in and were about to put my son under anesthesia they had to ask me what we were even there for! Yes, that's right. They didn't even know WHY we were there. I had a lengthy discussion with the Nurses, the Anesthesiologist and everyone else involved in my son's care that day as to what we were looking for and much to my shock and horror the Radiologist came back and reported my son's brain scan as "normal" and "no mass lesion" when any fool with eyes can see that THERE IS SOMETHING IN MY SON'S BRAIN. (With this, I must stress the importance of YOU as a parent taking a major role in your child's health care. Get copies of everything. Get records as soon as you can. Get the Discs of all the scans and LOOK at them. READ the reports. You might be shocked at what these "specialists" are missing.) So, I call my Neurologist who in turn is livid and makes the radiologist correct his report. Yet, you know what is scary? Typically Neurologists go by what the Radiologist says! What if that had been his first MRI? What if I HADN'T checked the scans and read the reports myself? Thankfully, we have a Neurologist who cares and advocates for his patients. The truth is, we wouldn't be where we are or as far as we are. YOU have to advocate for your child. No one else is going to do it for you. No news is not good news. No news in actuality probably means someone is not doing their damn job and I have learned that time and time again. Anyhow, after that debaucle we met with the local Pediatric Neurosurgeon who told me that it is likely benign, can't cause symptoms, etc. Come back in one year for a follow-up MRI, which is where this part of our story actually begins. Due to the fact that the Radiologist incorrectly reported my son's brain scan as "no mass lesion" when we were there for a follow-up BECAUSE HE HAS A MASS LESION, I wanted a second opinion. So, we got a referral to our state's teaching university (a four star hospital) and we got an appointment with what we were told was a world reknowned Neurosurgeon who came highly regarded. We also had an appointment with their Pediatric Neurologist as well to get another Neurologist's Opinion. To get to the teaching hospital it is a 2+ hour drive to get there and when we met with this world reknown and highly regarded Neurosurgeon it was clear he had no interest in helping us and didn't even bother closing the door to the consultation. He took one look at my heavily tattooed arms, asked if I'd done drugs while I was pregnant, informed me my son had fluid all around his brain, that whatever was wrong with him happened in utero and that we needed to go to Genetics. He scoffed at my questions and quickly dismissed us. Two hours later we met with the same teaching hospital's pediatric Neurologist who was in such a hurry to get away from us he seemed more like The Rabbit from Alice in Wonderland than a doctor. He couldn't stop looking at his watch, watched Abe roll around on the floor for less than 5 minutes, didn't even DO a physical exam and said "He looks fine to me. Come back in a year if he's still not walking." and he rushed off with his briefcase in his hand. I was livid. I filed complaints. Nothing came of it. I was hurt, disgusted and feeling betrayed by the medical system. How dare they not care about my suffering infant?! After that, I researched day and night and read as many medical reports that I could find to educate myself as much as I could about Pineal Cysts. I joined a private support group for people who suffer from these lesions and for parents of children who suffer from these lesions. Thankfully, I stumbled upon the Skull Base Institute in Los Angeles and Doctor Shahinian. Luckily, my father and step-mother helped us out with the hefty consult fee it took to get a true professional opinion on the lesion in my son's brain. He informed us that my son's cyst was significant, that it was causing vision disturbances and that it would need to be dealt with. Last year was just not the right time. I had a hard time with understanding why his symptoms would need to worsen before this lesion was removed but the difficult truth of it all is - the surgery my son requires is literally the most dangerous sort of brain surgery there is. Pineal Cysts sit in the deepest part of the brain and most Neurosurgeons won't even touch this part of the brain until worsening (ahem, life threatening) symptoms arise. Doctor Shahinian is a Skull Base Surgeon and has actually invented surgical instruments with NASA to make endoscopic brain surgery more do-able and he is the one I will trust to remove this lesion when he says it is time. Luckily, we get to speak with him again on Friday. I am terrified of what he is going to tell us either way. Waiting is the worst but so is the thought of brain surgery. Hoping for brain surgery is even scarier but this little boy deserves to live his life pain-free and surgical intervention is literally his only option. Doctor Shahinian told me to wait a year so I did. I tried to put it in the back of my mind and not obsess over it. I concentrated on helping my son with the things I could help him with and we dove head first into Physical Therapy, Occupational Therapy, Speech Therapy and more. We went to Genetics like the first Neurosurgeon suggested and we found our son has a Rare Chromosomal Deletion but since his father carries the deletion they felt that it was a benign finding. We saw Nephrology and discovered a horseshoe kidney that is for now operating at 100% with one doing 60% of the work and the other doing 40%. We went to Cardiology and thankfully found out his heart is "beautiful". Genetics tested him for several other clinical diagnoses but came up empty handed and told us to come back in two years in hopes that new testing may arise. So they had no genetic proof for the cause of my son's global developmental delay, hypotonia or any of his other health issues and diagnoses with are now pages long. The year went by quickly doing all of those things and Abram was scheduled for a follow-up MRI (back at the hospital where the Radiologist failed to even note his mass lesion) and of course to our dismay our appointment got screwed up courtesy of a careless nurse not reading her reports and filing his MRI with the incorrect insurance which we had not had nor paid for in months. So, we had starved our son for 14+ hours by the time I stormed into their office with my screaming toddler who was beyond consoling at this point. She needed to see that her actions actually has an impact on her patients. A two year old who is non verbal and who has been diagnosed with an Intellectual Disability cannot comprehend why he cannot eat or drink. They would NOT let us get the MRI even though I offered to pay cash. I was disgusted. I filed a complaint and we ended up going back to the Children's Hospital for the follow-up MRI. Our normal health care provider called us the next day with the Radiologist report which stated my son's lesion was "unchanged". I should have known better. When we went to see our Neurologist for a follow-up he didn't even know we'd gotten the MRI even though I had called his office THREE TIMES to let him know it was done and that we were coming in for discussion. He never had a consult with us about this MRI and I am not convinced that those images were ever even looked at. He did send the images on to the same Neurosurgeon's office whose nurse totally screwed us over on Abe's follow-up MRI and some time afterward I got a call from said nurse informing me that there was no need for follow-up. The Pediatric Neurosurgeon had no need to see us. Fast forward 60 days and my son is in an ambulance after what we thought at first was a Night Terror that turned into God knows what. A seizure? Aspirating? No one knows. He spent three days after that on a video EEG that caught NOTHING and then another ambulatory EEG that caught nothing. And let me tell you... putting a child with Sensory Processing Disorder through EEGs is like putting them through torture. My son was so upset that by third day of the Ambulatory EEG that he'd clawed through most of his gauze and shredded it t pieces and managed to pop of eight of the sensors. I just asked for them to end the study at that point. What's the point? It's not accurate if the sensors aren't on. They weren't going to stay on. It was pointless. I was informed then that we were "out of monitoring options" because they were convinced they'd prove that it was seizures causing my son's issues. We have officially had a sleep deprived EEG, two 3-day Video EEGs and an Ambulatory EEG and they have found no evidence or proof of seizures. So I went down to the Hospital in person and got a copy of my son's most recent MRI and was SHOCKED to read that the Radiologist reported that it was unchanged when in fact it had GROWN. I was beyond mad. I called his office. They would not let me speak to him to explain this to me. I called my Neurologist and he told me I'd need to see the local Pediatric Neurosurgeon. I called my health care provider whom I cannot get ahold of on the telephone and it's been two weeks. After explaining to our Neurologist the issues I had with his friend he referred us on to the teaching University to a "new" Pediatric Neurosurgeon up there. This of course took two weeks and four phone calls to get. I'm honestly questioning myself on why I'm even going back there after how their Neurology Department treated us last year but I'm going to try to be open-minded about it. Maybe this guy will not be a total egotistical maniac. If he is... you might hear me screaming. In addition to traveling up to the University we also have an appointment with the Skull Base Institute to speak with Doctor Shahinian.I'm scared shitless of what he is going to say. Waiting is awful. Yet, if he does tell us its time - Abe's Medicaid will not pay for us to go out-of-state for a surgery like this and I do NOT trust the people in this state with something as delicate and life-threatening as brain surgery. The surgery costs in upwards of $300,000 but if it comes down to that I have faith that fundraising will help us get what we need as SBI allows for down payments, monthly payments and the like. I will do anything possible to heal my son of this terrible ailment. So that, my friends is our Journey with Neurology, Neurology, Genetics and the very real fear that is happening to my son. I am beyond thankful for my parents who have given us unconditional support and my friends who always send an encouraging word when I need it the most. To sum it up... this fucking sucks but my son is amazing and resilient and strong. He will overcome this and most likely will not remember any of this craziness. I however, am screaming on the inside and cry a lot when he's not looking. Just so proud that I have people to count on including friends who do research and hand-deliver it to show these jerk Neurosurgeons in Iowa that there is real facts published in Medical Journals proving that what my son has is in fact symptomatic. (Cecil, if you are reading this - you are my hero.) There is nothing that I can stress more when you are dealing with a sick or special needs child than the fact that if you feel that you have gotten terrible care or that the individual you met with did not answer all your questions - PLEASE get a Second Opinion. Until I had a son that has had medical issues since day one, I had no idea how different and often times completely opposing views doctors and nurses would have as to what is considered appropriate care for my child. If you are new to the blog you might be shocked to hear we had an Orthopaedic Surgeon tell us that our son may not walk, a Neurologist who told us he was "fine" and a Pediatrician who missed a lot of signs of a serious issue for the first ten months of his life! I am lucky to have had a nurse friend advise me on what to do when no one else was listening. So, if you are reading this because you have a sick child and no one listens... find someone who will. Since my son was born we have seen Nephrologists, Orthopaedic Surgeons, Neurosurgeons, Neurologists, Ophthalmologists, Cardiologists, a handful of Pediatricians, Orthotists, Physical Therapists, Occupational Therapists, Dieticians, and almost any other kind of "ist" there is out there. Once I finally got his first Pediatrician to admit that something was off with my child, there hasn't been a day that I haven't fought like hell to do everything that I can for him. After my last post, we decided to travel to Iowa City to see another Nephrologist. She concurred that he does have abnormal kidneys but that the scans weren't exactly the best. It appeared that they are almost on top of one another, so she doesn't believe them to be horseshoe kidneys per se but said that there was flesh where there shouldn't be any and that they definitely aren't where they are supposed to be. So, she recommended that he get a nuclear test (Mag 3) to check his kidney function and to make sure that everything is working properly. They were going to try to schedule it the same day as his next MRI (in three weeks, eep!), so he only has to be sedated the one time. Sedating your child is risky and scary but sometimes it is a necessary evil. In addition to the Nephrologist, we also managed to get the Sleep Study conducted over mother's day weekend. We took our own supplies and showed the sweet nurse how we prevented him from ripping off the sensors during his three day EEG. They managed to get the information they needed from the very little time that he slept (he woke every 60 minutes the entire night) but I am hoping that it is enough to show the Pulmonologist what is going on in Abram's sleep. We have already ruled out Aspiration but are still waiting to hear if he has sleep apnea or RLS before chalking his sleep issues 100% as an affect of his chromosomal disorder and the mass on his pineal gland. The Geneticist also called back to report that Abram's test for Noonan Syndrome came back as "normal" but that the test only catches 60-70% of the cases so a normal result doesn't necessarily rule out Noonan Syndrome but it makes it less likely. That was a $4,700 test for a maybe? So, now we are still waiting on the results of my husbands blood work to see if he is a carrier of the Chromosome 7 Deletion. If he isn't, then they will be testing for Fragile X Syndrome. We also have had a follow-up with our Neurologist who upon walking into our appointment was convinced that he would start medication for Abram's seizure-like activity but after seeing him and how much he'd improved socially and physically since our last meeting changed his mind entirely! That was a big relief. The less medicine the better because most anti-seizure medications make kiddos very sedate and his entire personality could change. Next month is another huge month with appointments and follow-ups but I am hoping that July will bring fewer doctors appointments and more fun! This is officially Abram's third summer and I plan to make it the first memorable one for him. He deserves to be a kid. If the Fragile X comes back as "normal" too, I think we'll be taking a break from the hunt for a diagnosis or a name of a syndrome for our son's affliction. Life is too short to spend it in a waiting room! The month of February has been an unkind one. As I am writing this I am waiting to go to my Grandfather's wake. Lyle passed away early Saturday morning in Hospice House and tomorrow is his funeral. Saturday also brought the sad news that my husband's cousin was murdered so he will be Pall Bearer in two funerals this week - both in SW Iowa.
Things with Abram seem to be progressing for him both with diagnoses and his abilities. He STOOD for the first time last Sunday and has been pulling to stand all over the house now which is amazing. Since he is hyper-mobile and he has hypotonia, his knees lock and his legs overextend so he has a really hard time getting back down unless he's on the couch where he knows he's got a cushy landing. He is also becoming more vocal and is saying 'ah ah' and 'mum'. He loves the sound of his own voice and is thrilled if he is anywhere it echoes. Haha. We have also gotten to finally meet a Geneticist. I had no idea what to expect but it was a lot of information. He confirmed it is a rare case and didn't have much new news that we hadn't already learned from Unique. After them taking thirteen vials of blood out of my little baby, there are still a lot of other things to rule out including metabolic issues and two Syndromes that they are checking him for including Noonan Syndrome and Fragile X. So far all but two of the metabolic tests have come back abnormal but we are waiting on two more.... one for copper and one for a word that sounds like a sneeze. If both of those are negative they will test for Noonan's (a$1700test) and then on to Fragile X. After that.... I guess we just might not get an answer. Basically, whatever Abe goes through now is being followed by Genetics and Neurology so his case can help someone else in the future, so that's good. The Geneticist told us the biggest concerns with this are Epilepsy, Heart Valve Defects, Kidney Issues and Bone Density Issues so now we are being scheduled for an echo cardiogram, a renal sonogram and a full body x-ray. In addition, having small stature is also a concern so if he has another dip in his growth chart he will need to see an Endocrinologist to get him on growth hormones. The Geneticist also said that he felt the pineal cyst is a separate issue than the genetic disorders and could not offer an answer or advice on why Abram's soft spot is open still at 19 months, mentioned hydrocephalus and asked if we'd been to a Neurologist! (sigh and ugh) In addition, we had a check-up with our Neurologist who finally told us the results of the EEG which was disheartening. He said that he saw three spikes in Abram's 3day EEG in December indicating seizure activity but he doesn't feel comfortable in drugging him to prevent seizures at this point. He also admitted that he'd never heard of Abe's deletion and that he is learning from us.... that people will be helped by what we are discovering so at least maybe this journey won't be so hard for the next family. The Neurologist feels that the soft spot issue, the cyst and all of Abe's other issues are attributed to something genetic while our geneticist feels that the cyst and soft spot are neurological and not related. I just want to scream! Alas, our Neuro is going to measure the open fontanelle with a head ultrasound once our Title 19 kicks in and then Abe will get his third follow up MRI to check for growth in that cyst. Next up is the new Opthamalogist next week and just more waiting on more tests...... but regardless.... things are moving forward and my little man is gaining skills and brings me so much joy. I just hope that someday he can just be a little boy and not spending his days and weeks on a full schedule of appointments and therapies. In other good news, Abram qualified for the ID Waiver... which means we can get in-home respite care with people we choose so we will finally have the much needed help we will need and when he turns two we will have a community service that will help teach him life skills and give me a break. The wait list is 2-3 months but once we get in and get an hours worth of respite care, Abe will get his Title 19 back which will help immensely with medical bills. Well, that's all for now!!!! As always, thanks for reading and for caring. Your support means the world to us! <<< 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! Anyhow.... 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! 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. 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! Today we made the drive to Iowa City to see a Neurosurgeon and a different Neurologist for a "second" (ahem, third and fourth) Neurological opinion. It's strange to feel excited or anxious to meet a Neurosurgeon but after reading about his Academic Background, I felt like he had a background that would cover the bases with what our son is suffering from. Instead, I got a barrage of strange questions including: What I do for work, What I did before that, Have I been around Chemicals, Did I do drugs when I was pregnant, etc etc. He seemed very disinterested in our son, didn't pick him up, barely touched his head (just measured his soft spot) and immediately dismissed us telling us that what is wrong with him is part of a "bigger picture" that the cyst has nothing to do with his symptoms and that what is wrong with him happened to him in-utero and that we do not need to come back. He also informed us that our son has fluid on his brain (all over his brain) and that it is not hydrocephalus and that the cyst will need to be monitored with yearly MRIs. This information was all talked AT me while he either a) kept his eyes closed shut while speaking to me or b) staring at my tattoos with a look of absolute disdain on his face. (Typically I cover up my tattoos in front of folks like that (and even my Grandpa until last year!) but it was so ungodly hot in there, I was sweating profusely and the coffee was kicking in like crazy.) I was offended, disgusted, outraged and near tears. Livid, actually. But we were quickly shooed out of there and weren't even made to check-out. I basically felt like I had been attacked, blamed for my son's condition and quickly excused. He didn't even shut the door during our consult. Needless to say I was and am extremely disappointed. *sigh* After that appointment, we we had to wait around a couple of hours to see the second Neurologist at the Specialty Pediatric Clinic and I did like his bedside manner. He seemed hurried but he was more thorough than the Neurosurgeon (clearly) and asked more about his birth than anyone else has. He also took a look at the MRI and told us that the cyst is not causing his problems, that is is *almost* a "normal" kid and that he will most likely "grow out of it". He said that he would not recommend genetic testing or the 24 hour video EEG that our local neuro has ordered. Again - completely different diagnosis. I want to rip my hair out. So this is what we are left with:
So what are we supposed to make of this?! We have a Physical Therapist who admits that our son is hard to deal with and that she couldn't imagine having to have a child like him in her home full-time. The other Physical Therapist has had such a hard time with him she wants to co-teach with another Occupational Therapist (the best one at the outpatient service we use) because the first person who got assigned his case turned it down as she didn't feel that she had enough experience. People that are around him the most see that he is fussy and has a lot of issues so I am so frustrated and torn on which opinion to believe! I was hoping that out of them all at least two would have a similar diagnosis but that just hasn't happened and then we as parents are left here standing all of the (mis)information trying to figure out what is best for our son? Who am I supposed to believe? I know in my heart that what my son is doing isn't "normal" but it would sure be nice to jump on that boat of denial. I would like to think that the cyst isn't causing issues but no one can seem to come up with another cause that could be causing him so many issues. The Neurosurgeon today is the first one claiming that our son has fluid all over his brain. If that is true, why haven't the two radiologists and the three other Neuros mentioned it?! I'm convinced that no one knows a god damn thing. I'm pretty sure that in back of the offices somewhere is a spinning wheel with different diseases on it and they throw the freakin' dart. Nah... if that were the case... I'm certain we'd have better odds of getting the same answer. God damn it. I guess it's just back to more waiting. .Well, it is official! Abram is finally crawling at 13 months! It is so exciting and terrifying at the same time because now he wants to go-go-go! You can tell that he is so proud of himself and he often just crawls across the room and lays in the hall staring at the ceiling, proud of his new victory. We are always super busy so it seems like we rarely get to make time for anything else other than his much-needed nap times and all of his appointments. Things have changed up a little bit now that school is back in session so now he gets Early Access on Mondays (altering Physical Therapy and Occupational Therapy every-other-week) and on Tuesdays he gets to go to ChildServe for his Physical Therapy in their cool gym. I like both kinds of therapy for different reasons though. With Early Acess it seems like Abram is less-likely to have a meltdown because he is in his own environment but at ChildServe he gets to be in a place with other kids who are getting their Physical Therapy too so he will grow up seeing that there are other kids with similar struggles. Abram is having a hard time adjusting to his glasses and it seems nearly impossible to keep them on a one year old baby. His Occupational Therapist joked that it was a good use of isolating his thumb but not for a good reason! He just yanks 'em off even with the band that is supposed to help keep the suckers on! He just sticks his thumb under the frame and yanks it right up and off. Sometimes it gets stuck on his (ahem, large!) forehead but he howls at me to take care of it for him and to his disgust I put them right back on. We keep getting into trouble for him not wearing them enough but Abram is persistent and seems to have more patience than his mama! But we'll get there! His foot braces really seem to be making a big difference. The "poofiness" of his feet is slowly starting to go down and now that he has a pair of shoes that actually fit (his first pair was a size and a half too big) he can get around a little better! With the old pair, he'd get frustrated that he couldn't even try to crawl because he'd get stuck on his shoe! Now he's ready to go and is getting better at letting his Physical Therapists do the weight-bearing exercises with his legs. Even his Neurologist confirmed that without them on, Abram will bend in half - doesn't even want his feet to touch the ground - unless he has his braces and shoes on. Apparently, that issue has a lot to do with his Hypotonia so I am really hoping that we can figure out the cause of that so we can get him on the right track/treatment for that if there is more to it than what we are already doing. The Orthotist even gave him a pair of seamless socks because with his sensory issues, the seams on socks drove him nuts! I looked into getting him another pair and they are $15 a pair! What?! So, I think that will be on the wish list for Santa! The good thing is, I have received a lot of positive feedback for catching it so early and how much he will benefit from that so that makes me feel like a proud mama. It just proves that a mother's instinct is ALWAYS RIGHT. If you feel in your heart that something isn't quite right or that something is "off" about your child, please, please, please get a second opinion. We definitely got a second opinion! Not to mention a third and a fourth! Keep trying until you get someone who will take a vested interest in your child. I cannot explain what it means to me that I have had numerous people in the medical fields reach out to me, personally, on their own time - just to discuss my son, how we are doing and how things were progressing with my child. We have an excellent Pediatric Neurologist, Opthamalogist, Optometrist and Chiropractor who have gone out-of-their way to let us know that they have our son's best interests in mind and truly care about his well being. I honestly thought that care like that went out the window after the experience/TRAUMA we had at his birth so if you are one of them... and you are reading this... THANK YOU. Your kindness has made me cry more than once. Things are looking up. Things are happening! Abram is improving and learning new things every single day and the best part of all of our news is this: The Neurologist told us that his MRIs show NO permanent brain damage to my son's brain and that he interacts like a "normal" child. He just happens to be trapped inside a body that doesn't quite want to work yet but we are trying to figure it out! So, now we are on a witch hunt of sorts to figure out what is causing his Hypotonia. Unfortunately, Hypotonia is typically the side-effect or cause of another underlying disease so now we are on the (very long) waiting list to see a Geneticist to see if we can rule out any Diseases/Disorders. Anyhow.... I guess the point of this blog is to say HOORAY! Abram is crawling! (In your face Mr. Orthopaedic Surgeon who told me that we could "do physical therapy until we're blue in the face and it wouldn't make a difference". You were wrong.) It's amazing what a positive attitude and the absolute inability to "give in" to what ONE doctor tells me. My son is crawling. And he WILL WALK, I am sure of it. Many thanks to all the amazing people I have met along this journey and all the people who send me kind words. It is much appreciated the one thing that makes my days brighter when we're having a bad day/night or week! You're the best. Today was a pretty good day. Abram had his first private Physical Therapy appointment at Child Serve that went really well. He seemed to really like his therapist and didn't start getting fussy until the very end but it involved the touching of a rubbery item which always seems to send him over the edge! This little man definitely has some sensory issues with items made of rubber and things that are squishy! The best part about the PT was the fact that his therapist was so impressed by how much he had improved since his evaluation! Since June he has been able to sit up, pivot and go from sitting to hand-and-knees and back! So, he is getting all new goals written for him which is a great feeling! Then he had his Occupational Therapy at home today as well! The two therapists that come for that are so enjoyable and Abram likes playing with them. Today they brought him a great sensory toy that involved a container of rice and toys in which he wanted nothing to do with but he did show them how he likes to take toys out of containers and bang them together which was one of his short-term goals so this kid is rockin' it lately! All of the therapists were excited to hear that Abram did his first "crawling" yesterday. He didn't go far but he definitely crawled and we were so very excited to see him do that! Of course, he would not replicate it for anyone today but just seeing him do that was such a HUGE deal to us! He is still not weight-bearing on his legs but that will come with time. He's got to get the crawling down first and then the weight-bearing and walking will come. With his new little foot braces and the exercises I was shown to do with him, he should be making great strides by his second birthday! I'm hoping he proves us all wrong and walks by the Holidays but I don't want to jinx him. He's just been such a badass little boy lately! He has taught me so much about the value of patience! The best news of the day came from our Neurologist today who informed us that Abram's cyst is hopefully "benign". So for now, his diagnosis is NOT cancer which is a big relief. He does still have that thing in his brain and it can grow but at least with it not being cancerous gives us more time to save money and more time to research who the best-of-the-best is when the time comes to get the cyst out of his little noggin. The scary part was when I asked him if the cyst could turn into cancer and he told me that he couldn't say. (Again, this is a justifiable concern as it just happened to the only other male born on my father's side.) The worst part is the fact that that thing is in my son's head and the only answer we have right now is to wait for it to grow. No one wants to open up a child's head when as of now, the only symptoms he has are hypotonia and farsightedness. So, we were told just to wait and see if Abram complains of headaches (once he starts talking) and to make sure he isn't "walking around like a drunk person". The only way that they will recommend him for surgery is once that cyst starts compressing on things and causing other life-threatening issues like Hydrocephalus. It's all so scary and frustrating. So... the only thing we can do is hurry up and wait and in the mean time just keep on working away at his developmental issues! Yep! So that's where we are everyone! Good news with bad news and the unknown... but we are doing everything that we can for this little man to have a good life and that is all that matters! His fall/winter will be filled with lots of appointments as he will be getting Physical Therapy and Occupational Therapy twice a week and once his Speech Therapy goes into effect we'll be having even more appointments. When I closed my shop I was really torn and heartbroken but now I know that I made the right decision. Everything fell into place for a reason. I am lucky beyond belief that I have a soon-to-be husband that makes it so that I can be home with our kiddo and take him to all the places that will benefit him the most. I definitely believe that all things happen for a reason and that maybe some day we will know why Abram has had to go through so much at such a young age but until then.... we'll just keep working hard to make him as happy as can be! Thanks for reading - and for caring! xoxo I'm sitting here with tears rolling down my cheeks and I don't really know why. Well, I know why.. I have a hundred different reasons to cry but today it just seems like my seams are coming unstitched a bit. Things have been hard since the moment Abram came into this world. I have been trying my hardest to handle the hurdles in our life with as much grace as possible but I have my moments (days, hours, seconds) of just sheer agony and a lot of weeping and then I feel guilty because so many other moms/families have it harder than we do. Yet then there is this anger.... resentment (?)... jealousy of the life that my little boy will never have. I try my hardest not to cry or feel sorry for my family and for my little boy but today is one of those days where I want to run outside and scream at the sky about how god damned unfair it all is and how angry I am. Since my last post we saw an Orthopaedic Surgeon and Abram just underwent his second "high contrast" MRI yesterday. The Orthopaedic Surgeon informed us that Abram's Hypotonia is the result of nerve damage due to his difficult birth. We were informed that he may never walk and told us that we "could do Physical Therapy until we were blue in the face" and that it wouldn't make a difference. He told me that Abram's hypotonia has more to do with time and the nerves having to re-route themselves. I was heartbroken and left feeling defeated. Abram will never know the difference in what he can and cannot do but as his mama it is painful to see other kids enjoying things while my little boy doesn't really seem to enjoy much. It hurts me to see that he doesn't take enjoyment in the things normal kids enjoy and it's hard to have play-dates when he cries at any high-pitched noise because it literally physically hurts him to hear them. I feel pretty alone and lost on the inside. Most of Abram's days have been hard ones. This poor kid has never gotten a break. He has almost always been in pain and fussing. Only, the part that is the worst is that he can't tell me what hurts. He can't tell me what is bothering him. All he knows to do is to cry and to fuss and all that I know is there is nothing that I can do right now to make him more comfortable. He always seems to be hurting and I don't know how to help him or how to make it better. There is no pill to make my kid feel better. There is no magic potion to help him with his Hypotonia. There is no cure for that god damned thing growing in his brain (other than the very dangerous and invasive brain surgery he will have to endure). I am literally unable to do the one thing all moms are supposed to be able to do and that is to make my little baby boy feel better. So if you are reading this and you have a healthy child... be thankful. Rejoice in the fact that your child can walk, talk, run and play. Remember that when your child has the flu, a bad day or a toothache that those things will pass and most likely for you - tomorrow (or next week) will be a better day. Right now, I guess I just feel lost. RIght now, I want to yell WHY ME?! WHY MY CHILD?! But then I have to remember that somewhere.... someone doesn't have their son or daughter. I have to remember that even though things are hard that this life is a gift and I have to try to enjoy every single moment as much as I can. I have to remember that although Abram's life won't be easy.... that it's his life to live and I cannot and will not succumb to self pity and anger and regret for what could have been for him. These are the unfortunate cards my son has been given and we will overcome it or live with it. There is no other option. I have my son. I have my family. I have my friends. I have an incredible support system and people that care. I have a lot to be thankful for. I also have the right to have a bad day. It's so hard to go through all of this without hitting an emotional bump in the road. For now... we wait for the results of that second MRI and hope for the best. |
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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