Just before Christmas last week, we received a phone call from our Genetic Counselor at the University of Iowa. Over the summer we had met with a Geneticist again after our son had several new diagnoses and we were thankfully too impatient to wait another year to pursue answers.
The answer to the cause of all of our son's medical diagnoses is officially called "UBE2A X-Linked Mental Retardation." It is rare and we are the first case that the University of Iowa has ever seen. There are only 8 other cases noted world-wide and counting ourselves and another family I was lucky enough to stumble upon via Facebook of all places - that totals just 10 cases amongst just 7 families so far. This has absolutely blown my mind.
I will admit that I sobbed through reading the entire case study that was written in 2006. It was hard reading that out of all 8 patients cited in the study that none of them spoke. Other commonalities include my son's pineal cyst, seizures, his "dysmorphic facial features", large fontanelle (that didn't close until he was nearly 3), hypotonia, funky toe nails, puffy feet, skin abnormalities, his intellectual disability, fused horseshoe kidney, seizures and his brain abnormalities as well.
We were told that the Geneticists are officially learning from Abram and that there wasn't anything that they could tell us to do besides what we are doing already. Abram has been in multiple therapies a week since before his first birthday and gained the ability to walk just last Christmas. Reading that he may never speak hit me hard but I am doing what I can do to help him communicate the best. We are already in Speech twice a week, have been working on Feeding Therapy for over a year and he has Occupational Therapy as well every week. We are doing exactly what we need to be doing to give our son the best life possible.
The SLPs we have working with Abram are amazing: one works towards Neuro-Development with breathing, pressure points and learning some signs while the other works on eye contact and making requests appropriately as well as mimicking gestures and hand-movements. All these tasks require the hand-eye coordination that he needs so badly to be able to sign better vs. approximations and to eventually learn how to use PECS.
Searching for an answer and a diagnosis was a difficult task. There are many people out there who feel uncomfortable with genetic counseling and feel that physicians "tear their children apart" visually. When doctors and specialized physicians look at my son they see macrocephaly, dysmorphic facial features, a transverse palmer crease, hypotonia, diastasis recti, hypoplastic toenails, hypotonia and an epileptic. I was honestly RELIEVED when we met our first Developmental Specialist who looked at my child and starting at his head went down his entire body pointing out the physical markers of what she knew to be a part of a bigger picture.
We now know that "bigger picture" is the UBE2A gene mutation.
With Genetic Counseling comes the discussion that you could pass this on to another child. Abram's condition is "x-linked" which means that the mother is a carrier OR it could happen spontaniously. I plan to get bloodwork done to find out if I carry this gene mutation and what precautions I need to take for my own health, if any.
Genetic counseling from here focuses primarily on reproduction. Despite the fact that I personally hadn't planned on having more children - this diagnosis would not prevent me from having another child. The gentle tip-toeing that happens when it comes to diagnoses like this and future pregnancies makes me sad. To think someone would NOT want to have a child because of this diagnosis breaks my heart. This little boy has taught me so much about life, love and to slow down for all the little things. His smile can melt the most bitter heart and his hugs make all my petty thoughts go right out the window. He is Abram and the world has so much to offer him. I would choose him all over again. Without this diagnosis I would have missed out on an entirely different world - a world I could not picture myself without.
Does this diagnosis change things for Abram? No. We will have to continue to do what we have always been doing. We will provide all that we can to ensure that he has the best life possible. Will sharing our story possibly help someone else down the road? Yes. Absolutely, Yes!
Abram will now inevitably be a patient in a future case study on UBE2A. Optimistically, when another parent reads about "Patient #9", he will give another worried parent hope that their child will be able to do so many more things that the case study states. This is a new syndrome. Perhaps someday it will have a name and it is most likely under diagnosed.
So much of Abram's future depends on intervention and therapy now. The only thing that I can do is to continue to share our story and our successes. I hope that by doing so I can meet more people with this diagnosis who are going through similar struggles. I hope that Abram can blow this whole "absent speech" thing out of the water but if he doesn't I will help teach him other ways to communicate. His facial expressions already say so much more than words ever could. Life is too short to concentrate on the things that he cannot do.
Abram can light up a room with his smile. His laughter can wipe away any tears. His fierce love (ahem - obsession) of kitties is heart warming. His hugs light up my word.
Diagnosis or no.... there is ALWAYS HOPE.
With love from Iowa,
**Updated to say this: Even our Geneticist felt extremely uncomfortable using the term "mental retardation". The case study that I was given to learn about my son's condition began by telling me what a burden people with this diagnosis are on society. Sadly, so many people have used the words used to describe a medical condition and use them in a hurtful way towards people. Although this is our son's medical diagnosis - there are better terms for this condition such as "intellectual disability" and I hope that the medical profession catches up. A medical diagnosis is what it is. It isn't anything to be ashamed over. It is a diagnosis and nothing more. It doesn't define our son, nor will it ever define him. Abram is more than a diagnosis and more than a word. If you find yourself using "mentally retarded" as an insult to someone - please think twice about it. You are hurting more people than you know.**
I have written to you (Bill Leaver and Kevin Vermeer) several times since June with no response. Julia is listed as a contact for media on the Unity Point website and I have not received a response from her either. I called and left a message for Mr. Vermeer's assistant last week and did not receive a response that way either. Incase you didn't receive them before, you can find them by scrolling past this email to the bottom as they are also included in this email.
I have shared my story with the Des Moines Register, Associated Press, the President of the Iowa Senate as well as with all of the Republican House and Senate Members. Senator Grassley's office admitted that they were aware of your hospital policy not allowing your physicians to sign off on the CBD cards, which I found shocking. I also have contacts at most of the major news outlets for television as well. I am sure Iowans would be interested in hearing that the non-profit and publicly funded hospital who touts in their commercials about how much they care for sick kids are blocking an already extremely limited bill that parents fought so hard to get.
Perhaps my last emails were too lengthy but it is difficult to share my son's story without it. I am not going to write why I think CBD is a good choice for my child. Your hospital has made it clear with its policy that you don't trust your own doctors let alone the parents of your own patients to decide what is best for their children.
So I will just share with you some facts about my child's healthcare journey. My son just turned 3 this month. In those three years he has had to fight so hard to do things that other kids and families take for granted. Two years ago, I was informed that he has a mass growing in his brain and that the mass would most likely cause seizures and that it would require surgical intervention at some point in his life.
The mass is circled in yellow below. Due to that mass, my son has to go through routine MRIs which are dangerous in so many ways to a young body. Yet, your hospital won't let us have legal access to a medicine which is anti-tumoural and anti-seizure. Instead - you would rather us put him through MRIs and multiple sedations to make sure it isn't growing. So every six to nine months we have to say goodbye to our son and pray that he wakes up from sedation and that he doesn't stop breathing during the procedure again.
In addition to the mass in his brain he also suffers a Rare Chromosome Disorder called 7q31.31 which deleted the KCND2 gene, which also pre-disposes him to Epilepsy. He is just ONE of THIRTY-FIVE people in the world who are known to have this.
We learned all of this before he turned 18 months old. However, on top of that he was also diagnosed with Hypotonia (he was unable to walk until he was 30 months old), Sensory Processing Disorder, Microganthia and more. His diagnosis list doesn't stop there but due to the fact that you have zero care in the world for what my son is going through or what my family is going through. After all, your paid Lobbyist/Employee/Manager of Child Protection at your hospital stated publicly that “We don’t know if families use it for their children that maybe four years from now they could contract cancer or something like that.”
We have seen three Neurologists and five Neurosurgeons. We have been to two Nephrologists (one who incorrectly diagnosed my son at YOUR hospital - forcing us to go to Iowa City), we have been to the CDD to meet OTs, PTs, STs, Developmental Specialists, we have put him through FOUR EEGs and FOUR MRIs and we have seen countless other specialists like Endocrinology, Orthopaedic Surgeons and Cranio-Facial Surgeons. We have been to the MN Epilepsy Group and are heading to Mayo for their diagnostic clinic in the upcoming months as well due to the fact that no one in Iowa can put the pieces together for us.
I am writing you because I think that if you even took one look at these kids and the lives that they live you would understand that they need help NOW. My son needs reprieve.
His Generalized Seizures and Abnormal Brain activity make is so that he never gets a break. Can you imagine getting shocked all day, every day and even while you are sleeping? Could you imagine how the lack of sleep would make a person feel? My son has never had a full good day. My son has never had a full night's sleep. My son has never had a summer or a spring or a winter without countless appointments and that doesn't even count his therapies. Can you imagine working for months and even years on learning words only to have them taken away by a seizure? Can you imagine how hard it is as a parent not to hear your child call you Mama?
It is heart breaking to try to share his story with people who are so against a medicine that may have the chance of changing his entire quality of life. A medicine that has been proven in other countries and other states to be effective on Epilepsy. However, my son doesn't just have Epilepsy. He also has that mass in his brain that I shared with you.
If that were your child - wouldn't you rather take the slight risk of giving him a medicine that could have the possibility of not only taking away his seizures but also shrinking that mass in his brain? A mass that all of our specialists are waiting to grow. A mass that has doubled in size since 2013. A mass that can cause life threatening and irreversible neurological damage.
If that were your son's brain - wouldn't you want to take the risk of giving him a plant in lieu of waiting for the most invasive brain surgery there is for your toddler?
If that were your son - wouldn't you appreciate the Executives at your own child's hospital taking the time to respond to your concerns?
Please sirs. Change your policy on CBD. Please help my son.
I have a lot of things I need to get off my chest, so please bear with me. I do my best to stay positive and keep my head up. I keep a smile on my face and spend the hours and days with my son trying to make his life as fun and as adventurous as possible in between all the therapies, doctors appointments and hospital stays.
When you become a Mom so much of your life changes. In fact, every thing changes. However, when you become a mother to a chronically ill child or a child with special needs you learn quickly who your real friends and family are.
In the two years since Abram's arrival I have had more than my share of heartbreak from people who I thought loved me. I have also truly learned what it means to need a support system and I am one lucky woman because I have had some amazing men and women step up to remind me that they do care. People write to check in on my son... to remind me that people care.... to make sure he's doing okay and that I am doing okay and that WE are doing okay. What's even cooler is the fact that the people who have stood up at a time when I needed people the most - were people who I wasn't even expecting.
Regardless of how difficult our HARD days are there is always a kind soul who reminds me that I'm doing a good job and sends me their good vibes and I am SO grateful to the people who have come into my life thanks to Abram. In fact, Abram has introduced me into an entirely different world in which nearly everyone I meet has an awe inspiring story and I can see that I am not alone in this journey with my son even though sometimes my heart aches deep and the tears won't stop flowing.
Yet, just like all the other parents going through these similar situations it is that 2% of people who get under my skin. Whether it be hurtful words from a stranger to the lack of empathy and concern that we have received from people who in reality should care. Burning bridges has always been a part of me but even more so now that I have Abe.
Eight long years ago when I turned 30 I made a big promise to myself to not allow bad people in my life. That in a nutshell means: No Fakes, No Flakes, No Liars and No Thieves. I also promised myself that IF someone I allowed in my life later proved to be one of these things - than they too would be cut from my life... even if it hurts. This self-imposed law I put upon myself has taught me to be strong and to fight for myself and in turn have the strength to be strong for and advocate for my son.
I spent a great portion of my life being walked on and turning the other cheek. I have been told that I can be "too kind" sometimes to a fault. You know what I have learned? Sometimes it's okay to not forgive. It may be backwards to people but forgiving is something I have difficulty with. Forget? Yes. It's not worth it to remember a person who brought bad into your life. Forgive? I don't have it in me. Not anymore.
I feel like I'm rambling but there really is a point to all of this. A LOT of points, actually.The lessons I learned early in life really prepared me for the battle I would fight as a mother of a child with Special Needs. I learned quickly that most Doctors cannot be trusted and that even the most educated of Specialists don't know everything. I learned that I am the one who has to stand up and fight for my son and make sure that the people we count on for his medical care know that I am educated and more than likely know more about my son's condition than THEY do. In fact, I was told by our Neurologist that he was "humbled" by me and that alone made me feel like I am doing something right.
Alas, with all of the special health care needs comes an entirely different slew of issues. When you have a special needs child you allow a number of people into your life and you are almost obligated to trust them. You want to trust them. You want to believe that they have your family's best intentions at heart but sometimes as I recently learned that isn't always true.
(So... to that person (because I know you are reading this) I want to say this:
I wanted to love you. Seeing how Abram took to you and the kind and sweet nature you had with him made me ignore the icky feeling I had in my stomach when it came to the other things you said and did. So please, in your future endeavors - do not try to take another child's firsts as your own. By the time parents get to the part of allowing a paid stranger to come into their life and into their home under the guise of "helping" - a big portion of their heart is already broken. Stealing from me the joy I had in seeing my son's first steps after 17 months of agonizing physical therapy was cruel at best. Sharing those milestones as yours with other people was unforgivable. I hope you never do that to another soul. You tried to take that joy from me and that was one of the biggest hurts I have had thus far. "It takes a village" they say and my little Abe has two physical therapists, two occupational therapists and two speech therapists as well as a special educator from the moment I realized something wasn't right. In all of the months of help we have received in our home as well as in an outpatient therapy no one has ever tried to take credit for my child's milestones. "WE" is an important word to use when working with children and their families. I hope you remember that.)
So friends, that unneeded issue mentioned above was really under my skin and bothering me. I felt like I had been robbed of my joy but I can't let that situation get me down. I've got to let it go. Sharing it privately with my friends has helped to try to get past the broken trust (and the broken HIPPA laws) but it will take me a while longer to welcome another SCL Worker into our home and into our life.
Luckily, I have found that I am not alone in these frustrations so that makes this particular hurt a little easier to swallow. Luckily, I shared my son's first steps with the PT that has worked with him since before he was unable to sit up or hold a bottle and my closest friend and the three of use shared tears of joy and that is what I will remember forever. Sharing a moment with the people who were there with me through it all just waiting for it to happen.
It takes a village to make things happen for Abe. I am so beyond lucky to have the friends and family and community support that I do. To the other moms out there who are hurting... people will come into and out of your life. It will hurt. The anger will burn. Then, a kind stranger or an old friend will step up and say a kind word to brighten your day. Life is good even when it is hard.
It has officially been two years since my son came into the world. It blows my mind how fast the years went yet how long the days have felt this entire time. Abram has come so far since his last birthday. Last July he was unable to sit, hold his own bottle or bear any weight on his legs at all. As of his second birthday, he can walk with the assistance of a walker, hold his own sippy cup and loves to cruise around the house via the walls and furniture. The older he gets, the further behind he gets developmentally, so we are still going strong with therapies and he is now starting speech therapy as well.
It is hard to realize that your child will have to work so much harder for all the things other parents take for granted. This doesn't mean that I don't want to celebrate in the milestones of my friend's children because I DO. I always am in awe and excited for the kiddos who were born much later than Abe who are already walkin' and talkin'. I just remind myself that I got lucky because I got to have my little baby be a baby a little while longer than everyone else. (Although, the damaged ligaments in my wrists tell my body otherwise: carrying a 26 pound toddler everywhere is hard work and not easy on the bones. "Getting old is the pits!" my Grandpa used to say. Now I get it.)
As most people do, I have been doing a lot of reflecting over the last two years. Abram's Birthday will probably always bring up a host of emotions. I can only hope that someday the trauma of his birth and all that ensued afterward won't sting as much. I often still wonder if the events of his birth and the fallacies of the Hospital in the days following his entry into the world are the cause of his issues but I can't allow myself to linger in those thoughts for long.
I will always grieve not remembering holding him for the first time because I was so drugged up after an emergency C-Section that went awry. I will always have the guilt of "what-if" the nurses had attended to his oxygen levels sooner. I will always wonder deep down inside if there was something that I could have done to prevent these issues my son and our lives have had to endure.
Not many people have to endure that kind of grief. It is a deep, hollow and echoing grief that sneaks up and slaps you across the face with it's utter bleakness. It is a gut wrenching sadness having a child who can't tell you what hurts because they are unable to speak. It is a never ending heartache not being able to do the one thing a Mama is supposed to do for her child..... the ability to make things better. To not know what is hurting him or what he needs is horrific. To NOT KNOW the name of the thing that has taken over your whole life hurts so bad that sometimes it makes my throat close up in order to stop the tears from flowing. (Like right now as I am writing this.)
When people ask what is "wrong" with my son, it. Is difficult to explain because it is not just one thing that affects him. Each little diagnoses that my son has includes a huge list of symptoms that affect his daily life in numerous ways and it is impossible for anyone who isn't living it to even get. That is not to say that other mamas don't have it rough or have a bad day but I think it's hard for people to fathom just what we go through on a daily basis.
Unless you've sat on the other side of a two-way mirror to watch your child scream-cry for over a year in order to do something as simple as bearing weight on his legs... you have no idea. Unless you have a child with serious sensory issues there is no way you can get it how much it impacts my son's everything from clothes and eating to playing, socializing and playing. Unless your child has Hypotonia you have no idea how long it takes for my kiddo to reach a milestone. Unless your child has a mass in their brain- there is no way you can get it. (Just how there is no way I can get how hard it is to have an even more medically fragile child. Until you've lived it - you just cannot know.)
So, when I say "You are so lucky" to parents of typical children - I mean it. Just like I am so lucky that Abram doesn't have even worse symptoms or diagnoses but I always speak with those parents enduring more than I can imagine - I always speak to them with integrity and respect. So please, if you know someone going through something similar just be kind.
Don't make offers to help - Do something. Say something. Be there. I see this a lot in other blogs as well so I know I am not alone in this feeling. Send a card. Send a text. Leave a book for them to read on their doorstep or a silly toy. These are things my friends have done for me. You have no idea how much it cheers someone up to find a dinosaur bath toy, an old silver bowl(who did that btw?) or a Mac Tonight wind-up can do for the soul.
NEVER tell a parent with a special needs kid that you have it just as hard if you have a healthy child. I have friends with both typical and special-needs kiddos and they echo this sentiment as well. Parenthood is hard enough for everyone. However, going through a non-stop health crisis since the day your child is born is nothing to scoff at or belittle.
As Abram's image keeps on going viral I try hard not to look at the comments section. Luckily, 98% of the comments on all of the posts I have seen have been positive but it's always that 2% of people who have something hateful to say that gets under my skin the most.
Today, the "using my kid" thing got under my skin. I was actually just interviewed on a local radio station (Lazer 103.3) due to these very instances explaining that sometimes there is a story behind the internet memes that are spread around the internet like wildfire. Everyone is so quick to judge but don't want to take the time to check their facts or read about anything that doesn't really affect them. Spreading hate is so much easier than learning a thing or two.
Our family was going through (and still is going through) something VERY REAL and very scary when his images first went viral. Count yourself lucky if the best thing you have to do all day is bash another mom for her parenting. I spend my days going to a host of therapies, driving hundreds of miles to see specialists and hoping that someday we will have a name for the thing that has impacted our child's EVERYTHING.
Taking a harmless and silly set of photos was a spur of the moment thing that we did to *gasp* entertain ourselves and like most kids, our son loves having his picture taken and posing for the camera. I also happen to be a Graphic Designer so we took our favorite pictures, made a montage of it and shared it with our friends - who actually care. I had no clue that some jerk would take it, claim it as their own and spread it around the internet so I could have slews of people attacking me and claiming everything from abuse (physical and emotional) to people saying they hope my son grows up to kill me to insulting my home (which you can see very little of in the photo).
People assume that I meant to have my son's image go viral which is furthest from the truth. If you know me, you know that I owned a business before I closed my doors and I did a lot of charity for babies and animals. I closed my doors to my shop to become a mom and I took great pleasure in sharing my son's better moments on our Facebook Page. I had no idea that within 24 hours that someone would steal that image and that a year later his image would still be going viral and that there would still be those judgmental folks out there who have nothing better to do than be hateful and spread negativity.
If I could go back and undo posting that image I would still do the same thing. Not because I love reading how people think my son should grow up to kill me or to know that Bob V from Washington doesn't approve. I would post those images again because I have met so many other mothers going through the same thing! I have helped other moms. Other moms have reached out because of this one photo and my persistence in trying to tell people that there IS a story behind every picture. I can't do anything about my son's image being stolen but I can try to turn something negative into a positive by educating people about children with special needs, childhood brain tumors, rare chromosome disorders and a host of other subjects.
It is an unfortunate fact that the people that feel inclined to be hateful most likely won't even take the time to click on a link to read about such things because pecking away at the keyboard being judgmental and hateful is so much easier than being a good person who is open to discussion, willing to learn and being open-minded.
Luckily, I have a host of therapists and specialists who tell me that I am doing a great job and believe me, they see a lot of people that don't. My son's improvement is a testament to that, considering one year ago he couldn't even sit up on his own or hold his own bottle and right now he can walk with the help of a posture trainer and SMOs! Abram is a fighter and has worked hard and cried through nearly all of his physical therapy but he is turning into such a bright little boy with a personality to match. I have heard good reports from his Neurologist, Physical Therapists and Occupational therapists just this week.
So I will end it with this:
Be kind. Learn something. Read More. If you have healthy children, be grateful not hateful.
As usual, a lot to report since my last entry. Abram is finally pulling up to stand and "cruising" along furniture! It was such a huge deal to us and it made me cry to see how proud he was to be doing that!! The cat however, seems a bit disgusted that he's got a broader reach!
His Physical Therapist also got him to walk across our (yes, tiny) living room but the fact that she got him to 1) touch the rubbery handles and 2) "walk" using his posture trainer (picture a backward adult/elderly walker) in shiny gold! He screamed the entire time but he did it with the help Physical Therapy twice a week since last summer! I'd like to honestly have him "walk" into that Orthopaedic Surgeon's office and have him kick the guy in the shins for telling us that we could do PT until we were blue in the face and it wouldn't do a thing! We showed him! Go, Abe, Go!!
I'd also like to send a HUGE THANK YOU to the Rock Island District of the Army Corps of Engineers - where my father retired from and whose former co-workers were kind enough to send us a great donation that enabled us to pay for Abram's new glasses (coming soon!) and new shoes! Thank you so much for your kindness and generosity and for thinking of my son! It was so kind of you!
I'd also like to say thank you to the people who sent my family kind words after my Grandfather's passing. Lyle Fluckey was a great man and he will be missed by many. I'm just so glad that I got to give him a proper goodbye and he got to see Abram stand before he left this world! Such a great honor to have the chance to tell someone you love them one last time!
The Opthamalogist that we switched to turned out to be a great decision. Abram's old glasses had a prescription that was incorrect (too strong) and they check him and he does not have FEVR, which was a relief. His right eye is turning in but they feel that these glasses will help correct it and they gave us drops to put into his eyes so that they dilate enough to blur his vision so that he'll WANT to wear his glasses. I'm hoping that method works! With his Sensory issues, he tends to be very head/face sensitive and can't stand anything on his head! Drops however, are a much better suggestion that the suggestion that we got from our old Doctor who told us to duct tape magazines around his arms to restrict his movement! Um, no!!!
In addition - Abram's soft spot still has not closed up and is considered to be an "abnormal fontanelle" so on the recommendation of our PT we are going to see a cranio facial doctor next week to see if they can give us any suggestions as to why it isn't closed, if it ever will close and to get a second opinion as to whether or not putting a helmet on him to protect him would be a good idea as suggested by our Neurologist.
I think that about sums that stuff up!! Lots of appointments coming up/waiting to get scheduled and as per usual, I will update here when I can! Thanks for reading and thanks for caring. We love you!
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!
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.
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!
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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