Tag Archives: love

To The Strangers Who Became Part of Our Family

Five years ago, four people entered our lives as strangers. I knew nothing about them, I knew nothing about what they did, I only knew that our doctors in NICU wanted us to see them all. We were new to this world of therapy and special needs. We were still convinced there was nothing “wrong” with our little boy and didn’t see what all of the doctors saw. I was hesitant to let them in our home and trying to fit them all in to our schedule was stress upon stress.

The first to arrive was our Physical Therapy Supervisor, Mary Elizabeth. She was kind and patient. Most importantly she gave me hope. I remember her telling me that “on paper” she expected to see a child doing far worse than Braxton. It wouldn’t be until years later that she told me that in the early days she wasn’t sure Braxton would make it and she wasn’t sure what she could expect from him. Nevertheless, she never let that show. She never gave up on him and she guided us on this journey. She never treated him like a terminally ill child. She helped us build the rest of our team and ensured Braxton received the medical care he deserved. I’ll never forget how with one phone call a Genetics appointment scheduled in November was moved up to August to start us on our diagnostic journey. When the switch finally flipped for Braxton and again when we got our diagnosis and learned Braxton was definitely not terminal, she continued to make sure we were on target developmentally and set goals to get Braxton to reach higher and higher.  At that first visit she told me it would be her partner, Gil, coming to work with Braxton.

Braxton working with Gil on our playset

Braxton working with Gil on our playset

When Gil arrived,  I was hesitant because apparently I had seen too much Oprah and I’ll admit I was worried about having a male in my house when my significant other was away. But, that was pretty foolish. Gil is a Physical Therapy Assistant, but let me tell you, he has been an invaluable member of our team. “Assistant” is so misleading. With the years of experience he’s had, there is no one else I would have wanted on our team. He was so gentle and patient with Braxton. And in his spare time he likes to dress up as a Superhero – who doesn’t want a superhero on their team!? We made S-L-O-W progress at first, but Gil always pushed Braxton forward. I have a 5 minute video of Braxton TRYING to roll over. And video of Braxton up on his hands and knees rocking back and forth TRYING to crawl. Five years later and Braxton is knocking Gil over as he rears up and smacks him in the chest wrestling with him. He is walking independently, climbing stairs – well, climbing everything really! The progress he has made is truly amazing.

Braxton with Gil and Mary Elizabeth

Braxton with Gil and Mary Elizabeth

Aileen Feeding Braxton for the first time

Aileen Feeding Braxton for the first time

Shortly after Physical Therapy started, we still did not have a Speech therapist on board and Braxton needed help with feeding. I had no idea that Speech therapists could work on more than speech! Mary Elizabeth came to our rescue and called in a friend and colleague. Lesli didn’t have any openings at first and I remember that she came out on a Saturday to do Braxton’s evaluation. Within a few weeks, she had a space open up for Braxton (or she made one!) and we began working on bottle feeds. With her help, Aileen got to live out her big sister goal of helping to feed her brother. Bottle feeding did not last long as we learned Braxton was still aspirating (swallowing liquid in to his lungs), but we slowly worked back up to it, until Braxton just decided he didn’t want a bottle anymore. When we introduced baby foods, Braxton’s progress was miniscule. We celebrated BITES and when he ate HALF AN OUNCE. Now, Braxton eats 16-20 OUNCES EVERY MEAL!  You would never guess he was a kiddo with such great feeding difficulties. We had a few regressions in there, but Lesli never gave up. She never let us give up. We continued to press forward and here we are with a hungry little man on our hands. We did also work on Speech and although we never really got any words from Braxton, we started on the road  with Alternative and Augmentative Communication (AAC). Braxton is now using an iPad with Speak for Yourself to communicate with us. He is still not using it as much as we’d like, but he’s made really great progress.

The last to join our team, was Elizabeth, our Occupational Therapist. OT is apparently really difficult to find! Thankfully, OT and PT look very similar in the early months, so we weren’t in too much of a rush initially. Elizabeth has always been super patient with Braxton. Fine motor skills are definitely one of Braxton’s biggest struggles and his progress has been very, very, slow. (It took 3 years to get him clapping!) But, Elizabeth never seemed discouraged or frustrated. She worked with Braxton at his pace, always pushing him a bit further out of his comfort zone. And she has always spoken to Braxton as if he understands everything she is saying and expecting more from him, because we knew he was capable of more! Braxton has made a lot of really good progress with his fine motor skills and we know he is ABLE to do so much, but whether he actually WANTS to or will perform is a different story. We know he can build block towers, but he prefers to pretend he’s going to put the block on top and then throws it at the last second in protest. He has certainly kept Elizabeth on her toes and she developed some super quick reflexes!

Braxton working with Elizabeth and Lesli.

Braxton working with Elizabeth and Lesli.

After having worked with this incredible team for the last five years, this week has been pretty difficult for us as it has all come to an end.  Braxton is starting Kindergarten next week and unfortunately, our team can no longer see him as our schedules just don’t match. When we moved outside of their service area, they all moved with us to stay with Braxton. So, I know if there were any way to work it out, they would. But, sadly we weren’t able to make it work and we have had to say goodbye to everyone this week.

As I prepared myself to let them all go, I thought back to the days when we all started together. How worried we were. How clueless we were. Over the years, they became part of our family and were no longer strangers. I’ve learned about their families, met their children, commiserated together over school woes, cried together, and laughed together. They’ve watched my little man grow from this small baby who didn’t even fill up a couch cushion to this wild child climbing on tables and chairs, running away to hide from therapy. Every week, twice a week, for an hour each visit they’ve been in our home. It might not seem like much, but it adds up quickly and as the years pass so much life has been lived.

I am forever grateful to this team of people who helped us with our son. Taught us the things we needed to do to help him succeed. They helped to empower me and showed me how to be an advocate for my son. As we move forward to this next chapter, I look forward to the progress Braxton will make with our new therapists thanks to the strong foundation we have built with this one-of-a-kind team.  Thank you all, each and every one of you for all that you have done for Braxton and our family. I hope the small tokens we gave you will remind you of Braxton and remind you on the hard days that someone is grateful for you and you are making a difference. ❤

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We Are So Thankful

The season of thanks is upon us once again and we have so much to be thankful for this year. Along the journey, we have learned to be thankful for everyday and grateful for all of the little moments throughout the year. As we reflect upon the last year, one thing stands out most; progress. We are so thankful for progress. Braxton has accomplished so much in a year and what once was very slow progress, is now exploding in so many ways.

This time last year, Braxton took his first unassisted steps and at most walked about 10 steps on his own. He was eating 2-4 ounces per day. He had no words and minimal sounds. Though progress was slow, there was, in fact, progress. Braxton can now walk unassisted, albeit a bit wobbly, an entire city block.

He’s on his feet more than he crawls around. He eats nearly 16 ounces every meal and you’d never guess there was ever a time he couldn’t or didn’t want to eat. He still has no words, but he is so much more vocal these days. Thanks to technology, he now has a voice through the Augmentative and Alternative Communication (AAC) app, Speak For Yourself on the iPad. He’s learning everyday how to use the app to communicate with us.

Braxton pointing and telling me he wants to eat on SFY.

Braxton pointing and telling me he wants to eat on SFY.

His dexterity, focus, and fine motor skills are still slow to come, but he is so much farther along this year.

Braxton learning to string beads

Braxton learning to string beads

These are huge accomplishments for Braxton, but there are also so many little things we are thankful for this year.

 

 

We’re thankful for the coos and babbles that wake us before the sun, because it means we’ve been granted another day.

We’re thankful for the extra minutes of rest we can steal when Braxton will snuggle in bed with us.

We’re thankful for the sweet smile and not-so-gentle pat on the back that says, “Wake up, guys!”

We’re thankful for the sweet way Braxton pulls you close for a hug and rests his head on your shoulder.

We’re thankful for the way Braxton pulls our arm back around him when the hug wasn’t quite long enough.

We’re thankful for the look Braxton gives when he recognizes you and the way his eyes light up and his beautiful smile crosses his face.

We’re thankful for the way his whole body tenses up and he shakes with excitement, or kicks his little legs.

Big Smiles

We’re thankful for silent way Braxton says “I love you.”

We’re thankful for the incredible sibling bond he shares with his amazing big sister.

A sibling love that cannot be broken.

A sibling love that cannot be broken.

We’re thankful for the messes Braxton makes, because it means he’s mobile and independent.

We’re thankful for the countless hours of therapy that have helped Braxton along the way.

We’re thankful that we are down to seeing our specialists once a year.

We’re thankful for Braxton’s good health as of late.

We’re thankful for the sweet moments in parenting that melt away bad days and tell us we must be doing an alright job.

Sleeping

We’re thankful for therapists who have been in our home since Braxton was 8 weeks old. Their tireless work with Braxton goes far beyond therapy. They love and care for our sweet boy and share in our pride when Braxton reaches a goal. Braxton is not just a patient or a paycheck to them. We have been extremely blessed.

We’re thankful for wonderful teachers who have joined our team this year and have already fallen in love with Braxton. They have such a love for all of their students and we’ve seen such progress since Braxton started with them in August.

Braxton walking with his teachers

Braxton walking with his teachers

We’re thankful for the tantrums Braxton throws when he gets told “no” or has a toy taken away, because it shows he has the cognitive ability to understand and a way to communicate when something is unpleasant. It’s also a “normal” toddler reaction, so it’s a nice reminder that not everything in our life is atypical.

Braxton Upset

 

We’re thankful for the times Braxton gets himself in trouble by opening the oven door, swinging the lid on the trashcan, opening the cabinets and banging pots and pans, or unraveling an entire roll of toilet paper, because do you know what cognitive and motor skills it takes to do any of these things!? Although it can be frustrating and we get upset with Braxton, inside we are elated because this shows so much progress!

We are thankful for the sweet laughter that fills our home daily.

 

We’re thankful for family that loves and supports us in so many ways.

We’re thankful for friends who care and share in our joys.

We’re thankful for people who read our blog and share our Facebook posts and have fallen in love with a little boy they have never met.

We are thankful every day for so very much in our lives. We remain positive in our journey because positivity has so much more power and love than focusing on the negative. We have bad days, but they don’t last long because we allow positivity to permeate every aspect of our life.

We wish the same for you. Look for opportunities to be thankful. Live every day with gratitude and positivity. Let your thanks extend beyond today and this season. From our family to yours, we wish you a very Happy Thanksgiving.

 

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Why Braxton’s Dad Rocks

Day in and day out, Joseph proves to be an awesome father to Braxton and his sister.  He doesn’t always get the credit he deserves, but we are so grateful and appreciate everything he does for us!

So, In honor of Father’s Day, here are just a few of the countless reasons why Braxton’s Dad rocks!

1. Braxton’s smile is never bigger than when he is with his Daddy.

Braxton with Dad

2. Dad isn’t afraid to get down and let Braxton “wrestle” him to the ground.

3. Bath time is always more fun with Dad.

Bath Time

4. Dad sings all kinds of silly songs to Braxton all day long.

5. Dad makes super cool airplane noises when feeding Braxton.

6. The love of music is deep inside both of them.

Music with Dad

 

7. Dad takes Braxton to school when he is home, so that mom can sleep a little bit extra.

8. Walking with Dad is the best.

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9. Dad will do anything (no matter how silly he looks) just to make Braxton laugh.

10. Dad always finds the coolest toys!

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11. Dad, without fail, makes sure Braxton gets plenty of fluids via g-tube.

12. Dad pushes Braxton around in his toy cars over and over because Braxton loves it.

13. Dad is a diaper changing ninja!

14. Dad is always full of fun, love, and laughter!

15. There is no love greater than the love Joseph has for Braxton.

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There are many, many other reasons why Braxton’s dad is amazing, but I don’t think we have enough space to host them all here on WordPress.  😉

Happy Fathers Day to all of the amazing fathers out there!

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One Year After the Diagnosis

It’s hard to believe that it has been exactly one year since we finally learned Braxton’s diagnosis.

I went back and read my entries leading up to the day we received our results and even a few weeks after, and I recognize that there has been so much personal growth.  I am in a very different place now and continue to grow with every passing day.

Before we received our diagnosis, life was full of questions, uncertainty, fear, confusion, frustration, and a host of many other unpleasant feelings.  It was so difficult to have to go to the doctor and tell them that I had no idea what was going on with my son.  Braxton’s care was entirely symptomatic.  As new things came up, we treated that specific issue, but had no idea how it fit in to “the big picture.”  It was as if we were grasping at straws just hoping that something would work.

Outwardly, we presented our best face and tried to remain positive, but the battle within was constant.  There were so many sleepless nights and nights full of tears simply because I felt as though I’d failed as a parent and felt that the medical community had failed us.  I was always grateful for our team of doctors, but always, always felt like more could have been done, like more should have been done.  But, alas, “coulda, shoulda, woulda” changes nothing.

Life after the diagnosis has been a dramatic difference.  Sitting in the doctor’s office one year ago, I remember my uneasy breathing and grasping the chair beneath me until my knuckles were white, until the doctor walked in.  When she finally delivered the news, I remember exhaling, a weight being lifted, and even smiling because I had already known what the doctor just told me.  I will always be grateful to the few people who reached out to us through our blog to suggest Rubinstein-Taybi Syndrome.  Doing my research then, helped me accept the diagnosis in the office that day.  It was familiar, it was not life-threatening, I was at peace.  I was relieved.

BraxtonThe first few weeks of researching and trying to explain things to our family was very difficult.  Our family members learned and dealt with it in their own way.  Some are still coping.  Some still believe that Braxton will magically be “cured” of RTS, although there is nothing to cure.  You can’t change genetics.  Braxton is who Braxton is going to be for the rest of his life.  He is loving. He is full of joy. He is full of spirit. He is full of drive and determination. He is a fighter. He is just like any other 2-yr old daredevil little boy. He may not move as fast, but he is well on his way.  Our family has been supportive every step of the way.  We have all grown and we have all come together.

Every day is a little bit easier.  Life is still full of therapy, but the doctor’s visits are less than before the diagnosis.  Most of the doctors are now seeing Braxton on an annual basis, with the exception of his Cardiologist who still monitors his heart closely.  Now that we have a diagnosis, our care is more focused.  I know some of the issues we will face and how other families have dealt with them, which has helped tremendously.  I can make informed suggestions to our doctors based on real experiences.

Our therapy goals are now geared toward the things we know will present difficulty.  We know Braxton will walk, so we are really pushing that goal and even his daycare is doing everything they can to get Braxton there.  We purchased a medical stroller instead of a wheelchair because we know Braxton will walk soon.   We know that Speech will be our greatest difficulty so we are trying many different methods of communication.  Braxton is still not picking up any sign language, but he has taken to the iPad and successfully demonstrated purposeful choice-making.  We’re now moving forward with a grant to purchase an iPad and augmentative communication program.  We’re still using sign language and picture cards, but we know this is what he is going to need long term, so we are able to provide medical documentation for a grant.  Before the diagnosis it may not have been so easy.

There is a whole other world of possibilities that has opened up for us now that we have some insight in to exactly what is going on with Braxton.  I can make decisions with more confidence and have more options available.  I felt stuck before the diagnosis and just accepted most of what the doctors recommended, because I didn’t want to look back in hindsight and wish I would have done more.

We have a new support group that has been fantastic.  In the first few weeks after the diagnosis, I asked A LOT of questions on the Facebook group and Listserv. Thankfully, so many shared their experiences and put my worries at ease.  A year later, I can now welcome new parents and share our own experiences. I’ve had parents reach out and tell me that my blog helped them come to terms with the diagnosis and to a place of acceptance. We have come full-circle.  There is a sense of family among our diagnosis and at any given time I can reach out for support and answers.  That is, perhaps, one of the most important differences in life before and after the diagnosis.  Before, I could reach out to families who had similar experiences but due to their specific diagnosis, it was handled differently than Braxton would have been.  I was thankful for the support and guidance, but it never really quite fit exactly.  After diagnosis, I see/hear stories and think “Oh my, that is EXACTLY how it happened with Braxton.  Here is what worked for us…” We finally have a “medical home,” a group of people who truly understand, people who have “been there, done that” who can offer advice and words of wisdom. It has truly made such a difference.

Braxton has grown tremendously and is making wonderful progress.  His receptive language is getting better every day and he is finally showing real signs of understanding.  His gross motor skills are taking off as well.  He is cruising like a champ, “knee-walking” all over the place and taking independent steps during therapy.  His is eating almost completely on his own now.  He will eat about 30 ounces a day by mouth and he gets one bottle via g-tube just to supplement calories.  He is even starting to drink now! With most of my worries gone, I can focus on all of the amazing things Braxton is doing and just be in the moment.  And the moments are incredible. Positivity is no longer something we pretend, it just comes naturally.  We are still going to have hard days ahead, but I am better equipped to face them and I know I don’t have to face them alone.

 

 

This anniversary comes just before “Undiagnosed Children’s Day” and I am reminded that there are still so many searching for what we have found.  The average journey to rare diagnosis takes about 7 years.  Yes, SEVEN years.  Our diagnostic journey was significantly shorter than the average but still took quite a toll on us. I can only imagine the families who are in agony and still searching.  To those families, I say please don’t ever give up hope.  Soon the answers you seek will find you.

To everyone else, I say please keep these families in your thoughts and prayers.  Continue to support the organizations who serve the Undiagnosed and Rare community because it is those organizations that helped lift us through the hard times.  I don’t know where we would be were it not for U.R. Our Hope and our Physical Therapist who helped guide our journey.  I’m grateful to them for fighting the fight.  And I’m so proud of the documentary team who is filming “Undiagnosed: Medical Refugees.” I hope this film comes to fruition and the world learns what we have had to face and why answers are so important.  More can be done and more needs to be done for these families.

 

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Letting Go Of The Guilt

I worked on my “Letter to NICU Parents” for a few weeks and even after I wrote it, I read it about 20 times.  Then, something jumped out at me. I left something really important out.  A feeling that I felt then and occasionally still haunts me. A feeling I’m sure lots of new parents in NICU feel.   (And probably some people who are years into the journey).

Guilt.

The idea that I must have done something wrong for this to happen to my child.  Not necessarily Karma coming back to bite you, (although I think some people go there as well). But, when you learn that your child has a congenital anomaly or some kind of change in their gene structure, you immediately feel like it’s your fault.   After all, it’s genetics, right? And genetics are passed on, so it must mean it came from you.

New parents, I want you to know that you didn’t do anything wrong.  You didn’t do anything to “deserve” this.  These things just happen and its just the right combination of genes and circumstances.

Mom and Brax in NICUI remember sitting there in the NICU not wanting to tell anyone what was going on because they would automatically assume that I didn’t take care of myself when I was pregnant or that I had done something that wasn’t safe.  In reality, I took better care of myself while carrying Braxton than I did when I had my older daughter.  I ate better, drank less caffeine, drank more water, exercise – eh not so much, but overall I did a better job.

 

Dad and Brax in NICUI remember talking to Joseph and over and over he said it was his fault.  He felt that maybe his job exposed him to radiation and he brought it home and passed it on to his son.  He works in the oil field and while radiation exposure is possible, it’s really not much worse than what we are subjected to every day.  He thought maybe it was due to his past battles with drugs, but other than alcohol, he hadn’t touched a drug in years so there was no way possible that could be the cause.

Then, finally, a few months after our NICU discharge, we got an appointment with the geneticist.  Talk about a guilt trip.  The first genetics appointment can be a little intimidating.  They want to know EVERYTHING and I do mean everything about your life story.  They want family pictures of anyone who might look like your child, if anyone had any congenital anomalies in the family tree, heart conditions, if anyone had a stroke under the age of 50, medications you took while pregnant, any traveling you did, and it just feels like the barrage of questions never ends.  By the end of it all, you’ve got a list of everything on your side of the family and everything on your significant other’s side of the family, and whether you want to admit it or not, subconsciously you look at the list and compare it – who has more things “wrong” with their family? Who did this come from? Is it my fault? Is it Dad’s fault? Which one of us has the faulty genes? Is there something I could have done to prevent this? Wait, Is it the doctor’s fault? Should he have seen something in the ultrasound? The internal questions never end.  You go on with your fears and your uncertainty. You try to hush the voices and just be grateful for the little boy or little girl you have in front of you, but the guilt lingers.

Guilt is like a ticking time bomb.  Just sitting there, stirring at the back of your mind, waiting to cause a fight.

When our geneticist finally told us she wanted to move forward with Whole Exome Sequencing I just knew this was going to give us the answers we needed.  When the counselor explained WES only provides a clear diagnosis for about 20% of those who are tested, that confidence wavered.  Four months of waiting was excruciating.  After 18 months, what’s another 4? But, when you are waiting on test results, it’s like the last hour right before you are supposed to get off work for vacation – it. takes. for-evv-errrrr. It feels like an eternity.  And again, subconsciously you hope it eases the guilt.

Our appointment to discuss results finally arrived 4 months after testing.  We were nervous, we were shaken, we were scared.  We could finally have an answer or know a whole lot of nothing.  Genetics is an area that is really difficult to understand.  There isn’t really a cut and dry kind of situation.  There seems to be a lot of gray areas.  We received our report and as the geneticist went through each of the variances, that imaginary checklist came back.  Variance number 1 (blah, blah, explanation, blah, blah) Mom is also a carrier.  Variance number 2 (ugh that’s one for me, blah, blah) Mom is also a carrier.  Variance number 3 (crap, it’s all my fault, I knew it was, blah, blah) Mom and Dad are carriers. Variance number 4 (ugh, he’s going to hate me, blah, blah) Dad is a carrier. Variance number 5 (ugh, now he thinks it’s all his fault, blah, blah) Dad is also a carrier….and so forth and so on until we finally reached the end of the report and both stared blankly tallying up our imaginary checklists.

Then, the geneticist finally goes on to say that these particular variances are what they call “Variances of Unknown Significance.” Genes that are known to cause deleterious conditions, but since mom or dad are also carriers it could just be the gene passing down without any issues or there could be issues later, she couldn’t really say for sure.  There was one gene that neither of us were carriers for and it was the one gene that explained all of Braxton’s issues.  This variance is known as a de novo mutation, meaning new, meaning that no one in our family is a carrier, meaning that it was no one’s fault, it’s just something that happened. The geneticist also explained that every single person in the world has gene variances.  If they performed WES on anyone, a whole list of genes would show up even in “perfectly healthy” people.  This is that gray area.  Some genes require that both parents be carriers in order for a disorder to appear, but how do you know that before you have a child? Are we supposed to just go around performing genetic tests on everyone before they have children? Sure, might seem like a good idea, but it’s not logical.

The fact is, there are lots and lots of babies who are born without any issues who carry all sorts of variances. And then there are some babies who have just the right variance to cause things to be not quite right.  Is it fair? No. Is there anything you can do about it? Well, not really.

For future children? Maybe.  Once you learn of a genetic variance, you can find out if it is something that can be passed on or if it is something that is a one time deal.  For us, we know we have a less than 1% chance of having another child with Rubinstein-Taybi Syndrome.  But, we also know that we are both carriers for a gene that causes deafness, so it is likely if we had another child that they would also have hearing problems.  Likely, but we are not completely certain.  Herein lies the issue with genetic testing.  How much is too much information? Do we really need to know all of the genes that are mutated? Does the doctor have the right to withhold genetic information that “we don’t need”?  But, those are all questions for another topic and another day.

We are grateful for the Whole Exome Sequencing.  It gave us the answers that we needed. I know that it doesn’t work that way for everyone.  Some people just get a list of genes and the doctor says “Well, here are all the variances we found, but we aren’t really sure how that fits your child’s picture” Say whaaa??  Those parents are still left in the dark, still searching for answers, still blaming themselves or looking for someone to lay blame with.  To those who are still searching and to those who have found answers, I have to say – stop blaming yourself.  Stop blaming your significant other.  There is nothing you could have done differently.  You might think you could have chosen a different partner, but who is to say that would have changed anything? Perhaps you would be fighting a different battle? A bigger battle? You never really know and playing the “what-if” game gets you nowhere.  Just angry and alone.

So, to all the parents in the NICU (and even some of us veterans) take a deep breath and let it go.  Yes, it is easier said than done, but you have to let it go.  Let the guilt go.  You are not a bad person, a bad parent, someone karma was after, someone God was after – nothing could have changed the circumstance.  Let go of the guilt so that you can move forward.

It is not your fault.  

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