My New Normal

The first 2 years after the birth of my daughter were extremely dark for me. I had moments of joy, but most of the time I was hurt, angry and jealous. I would see a mom and daughter in the store shopping together and start to cry because I could not take my daughter to the store with me. I would hear a mom complaining that her child is not walking yet and he/she is already 14 months. I would be filled with anger at this mom, how could she complain when my child will likely never walk. I would be hurt when my friends and family would leave me out of things since they knew I could not leave my daughter's side. Rather than letting me decline an invitation, no invitation was offered. I would hurt for my daughter. I wanted to give her the full life that I had spent 9 months imagining while I was pregnant. I would give up my ability to walk, talk, eat, breath if I could give it to her instead. She was so innocent and so pure, and yet she was being punished for no reason. I was angry at doctors, at God, at myself, I was angry and hurt all the time.

Around her second birthday we moved back to my hometown where I had family and more friends that I could lean on. We also finally got a regular scheduled nurse to start helping out. Eventually I was able to get out and do things for me. The darkness was starting to lift as I found bits of my old self shining through. Anytime I would tell my daughter's story (our story) it was as if I was living it all over again. I could hear the monitors in the NICU beeping, I could smell the alcohol wipes prepping for blood draws, I could taste the watered down fruit juice that I drank to try to produce more milk for pumping, I could hear the suction machines, the breathing of the ventilators, it was as if I were still sitting in the uncomfortable rocker next to her isolette in bay 8. I felt like I was going crazy. All of my friends and family wanted to hear the story, but I was not able to tell it without completely breaking down.

I somehow found my way to a local organization, Texas Parent to Parent. In my irrational state, I signed up to be a mentor to other moms. I was not qualified for this role, but I am so glad that I went to the training. As we went around the room each mom told her story and how they found their way to the group. I was one of the last to go. I sat and listened to each story and felt envious of each mom. I would give anything to have their problems. Their children were medically involved, but they could smile, they could breath, many could even walk and talk. Then it was my turn to share. As I had done a thousand times before, I tried to tell my story. I was a mess before I even got half way through. I could not hold back the tears and felt like a complete fool breaking down in front of everyone. I was here to be a mentor and as it turned out, I NEEDED a mentor.

At the Texas Parent to Parent training I learned about the Stages of Adaptation. I learned that my feelings of jealousy, anger, etc were all normal. I learned that what I needed to do was to grieve. Grieving did not make any sense at first. Why would I grieve, my child is alive? I realized with the help of these new mentors in my life that I am not grieving my living child, I need to grieve the life that I had imagined. The life I spent picturing for 9 months (or really for my entire childhood). The life I envisioned for my daughter, and for me as a mom, was very real. And that life is gone and needs to be grieved. My obsession with getting pregnant again, even though I knew I could not physically have another baby nor did I have the time, resources, etc for another baby, was normal. That was my subconscious way of trying to recreate the birth and early fantasies I had lost. Once I knew why I was feeling the way that I was, and I knew I was not crazy but just a MOM, it helped me a lot.

A year or so later I realized that there were reasons all of the memories were so vivid each time I told my story. I was suffering from PTSD. Just like the original idea of grief, PTSD also seemed completely out of place. PTSD was for soldiers in war, not for moms. As I learned more about PTSD I realized that it was in fact what I had. Many parents that go through a trauma like I had with their child (it does not have to be at birth- but often is) will be so scarred from that trauma that PTSD is very common. The same neuro receptors and chemicals are involved regardless of the nature of the trauma. I as a mom watching my child go through all that she as gone through, and going through many medical issues myself was traumatized. Much like a soldier that sees unimaginable sights at war, I saw unimaginable things in the NICU.

Many of us may need to see a psychologist or psychologist to help work through our feelings. Many of us may need chemical interventions to help get through this process as well (I do not mean to self medicate- I am referring to chemical interventions prescribed by and monitored by a licensed medical professional). There are some great resources to help find a good therapists in your area, and there are many that specialize in treating caregivers. Not only do they treat for PTSD, depression, anxiety, and the other things we often expect with extreme parenting, but they also treat things such as caregiver burnout, and grief at the many different stages. There is sometimes a stigma attached to seeing medical care for physiological issues, but if you need this care PLEASE call someone. There is no shame, and asking for help does not make you a bad parent.

Once I was able to work through my feelings and better understand what I was actually feeling I was able to get to a much better, much brighter place. I eventually even made it to the point where I can now be an effective mentor parent. I still have bad moments, days, weeks, but I am able to get through these dark places and back to the light much quicker now. It takes a lot of work and I rely heavily on my amazing support team (especially my husband). I have a new life now- a new normal. It's easy to get caught up in the things I wanted to do or can't do. When I start to go down this road sometimes I allow myself a little time to be sad, but ultimately I remind myself that each day with my daughter is a gift and regardless of what can't be done, there are SOOOO many things that CAN. We have learned to not sweat the little things; we have learned to live each day to the fullest; we have learned to celebrate EVERYTHING, and we have learned to ask for help. If you had asked me 10 years ago what I expected to be doing today I would never have guessed that this would be my life. Of course I would still trade everything if I could make my daughter healthy and to give her an easy life. That being said though, I am happy, I have found my joy and her name is Casey. Everything I do, I do for her.



I expect many of you reading this can relate to the feelings I describe. Please know that you are not alone. We are all in this together. Seek help, join support groups (like Mommies of Miracles) and allow yourself time to grieve. It's an amazing journey and rewarding in so many ways. There will be dark days, but you can do this!

The Emotional Side of Receiving a Diagnosis

No matter when you find out, hearing that your child has a medical problem is never easy. Some of us find out while the child is safe and snug in the womb, some of us find out shortly after birth, and some of us don't hear those words until our children are older. It doesn't matter when it happens, you feel a plethora of emotions ranging from guilt and sadness to a "we can beat this" attitude. Then there's the matter of the diagnosis. For some, such as those with a recognizable disorder, you get your answers pretty quickly. For others, such as those with rare disorders, the process of getting a diagnosis can take years.

Personally, it took two and a half years for us to get a diagnosis for Jaxson. I know that some of you have waited longer and some are still waiting for science to catch up with your child. In Jaxson's case, Kabuki Syndrome was found just over 30 years ago, so even though he has the diagnosis, there is still much to learn about the disorder and the problems that is causes. Kabuki is not the only disorder out there that there is little information on, so I'm sure there are others that fall in line with it. Over the last two and a half years, we handled what we could and prayed about the rest. When the call came with the diagnosis, I actually saw a spike in my anxiety and couldn't figure out why. Then it dawned on me. When you put a name to something, it becomes real. I could no longer pretend that it didn't exist. And that has had me reflecting on the last years and how unprepared I was for these emotions.

I am not your typical woman when it comes to emotions. Most of the time, I have no idea what I'm feeling, so trying to process everything that comes with having a special needs child has been a huge hurdle for me. I know I am not alone in this, and I am still on my journey of discovery and understanding. However, something changes in you when you have a child with special needs. For the last two and a half years, I have gone through the motions. I've taken Jaxson to therapy and specialist appointments, I've stayed with him in the hospital on more occasions than I can count for surgeries and illnesses, I've helped expand his skull, I've done everything that the doctors said we should do. I had no choice because we could only address the problem at hand and didn't have a big picture to look at. But in that sense, I also only had to deal with the day-to-day. I may have wanted to know what the future held, but I didn't and therefore it did not exist for me.



So I wanted to share a few of the things I felt that I was unprepared for, that way maybe those of you who have not received a diagnosis can be a little better prepared than I was.

The first thing I felt was relief. Relief that this part of our journey was over, that we finally had an answer. I felt relieved that I finally had a place to turn with questions, I could finally connect with people who knew exactly what I was going through. I was free to join groups on Facebook where I could find support for everything versus just one issue. I was relieved I could finally do research on Jaxson's issues and maybe find some answers. That was a huge weight lifted!

Then I felt overwhelmed and anxious. Overwhelmed because I could no longer just go through the motions. I had to research this diagnosis, find out everything I could and learn as much as I could as fast as I could. I'm still in that process, although my brain has calmed down. I was anxious to find out if there were other families in my area with this disorder, anxious to see how Jaxson compared to other kids with Kabuki Syndrome.

There was never a sadness when I learned the diagnosis. I know that some people will experience sadness and devastation with a diagnosis because of the implications on their child's life. Thankfully, Kabuki has a normal life expectancy, and that puts us back to feeling relieved.

The next two things I felt were readiness and frustration. It seems weird to put those two together, but that's how they came. After sorting through being overwhelmed and anxious, I was ready. Ready to tackle this syndrome head on, learn everything I could. And that's when the frustration came. Kabuki was only discovered in 1981, which is not a long time ago in the medical world. So finding information on Kabuki beyond what's on the NIH and NORD websites was not easy. There is one main foundation and about five websites housed in different countries for KS. There is still much to be learned by doctors on this disorder, so those of us who deal with it get to be guinea pigs for the time being. There are plenty of disorders that have been discovered even more recently than that, so frustration can play a huge role in learning a diagnosis.

But here's the thing to remember above all else: Generally speaking, the course of action and plan for your child will likely not change much once a diagnosis is received. Putting a name to something gives doctors a better idea of what to expect with various things, but treatment plans like therapies and such are not going to change. For us, Jax is going to be tested for a few things and go to the sleep clinic, but that's just for informational purposes. Others of you will have similar experiences where a diagnosis is received and you need to check for autoimmune disorders, watch for seizures in case that's part of it, and make sure there are no additional clinical diagnoses that would change a treatment plan. I can assure you, there will be a few of you who have drastic changes come when you receive a diagnosis, but most of the time our doctors have a good idea of what needs to happen even if it doesn't have a name.

So prepare yourself for when the call comes or when the doctor decides to put a name to what is happening with your child. You may feel more emotions than I can put my finger on, but definitely know that you could feel the same things even in a different order. Putting all of this together can be very overwhelming, so don't be afraid to lean on your fellow MOMs. We get it! For those of you who have received a diagnosis, congratulations! It's a good feeling to have a direction. For those of you still waiting, keep doing what you're doing. There are rapid advancements in medical science and technology, and science will catch up with you. It's a rough road in of itself and I hope this helps you prepare for what you might feel when you do finally get the call.

***Note for MOM- Whether getting your initial diagnosis, having a child with medical needs that are not yet diagnosed, or adding a new complication to an existing long list, there are emotions that all of us go through. This is often referred to as Stages of Adaptation. As we cycle through the stages we will learn to move through the darker stages quicker, and more productively. It is a constant cycle though. For more on the Stages of Adaptation, please check out this great document. You can find this and many more helpful article on our Hope page.

Waiting to exhale

I remember the moment it happened.  I was just 27 weeks pregnant, admitted to Albany Medical Center's antepartum unit with polyhydramnosis and in pre-term labor.  One of the high-risk obstetrics doctors was performing a lengthy, in-depth ultrasound.  The room was filled with medical students, residents, nurses, the attending, and my husband and I .... yet you could hear a pin drop.  I watched the expression on his face and studied his eyes with intent, watching, waiting, needing him to say something.  I began to hold my breath, not knowing what the next moments of our lives would hold.  His expression continued to change, to intensify, as he studied the monitor in greater and greater detail.  The suspense was too much to bear.  It felt like hours went by.  Hours of silence.  Then finally, he spoke.

 

The doctor told us our baby girl had an intestinal obstruction in her duodenum, what they nickname a "double bubble."  She also had a large hole in her heart.  And he said she had Down's syndrome (which was later proven untrue).  We cried.  I cried.  And I continued to hold my breath, waiting for a miracle, a change, waiting for something to make it all okay.



She was born later that day after my water broke, via emergency C-section because she was in fetal distress.  She was only 27 weeks gestation, weighing just over 2lbs.  The next 100 days would be spent in the NICU.  Tests, surgery, diagnoses, specialists, beeping monitors, apneas, good days then terrible ones, the list goes on and on.  As each day passed I heard new medical terminology, I felt emotions I had never thought possible, I was confused and tired and an absolute wreck on this roller-coaster of prematurity and hospitalization.  I just wanted my baby to be okay.  And I continued to hold my breath, afraid to move, afraid to do anything, afraid that something else would go wrong.



Elizabeth went home on oxygen and an apnea monitor, and had great difficulty feeding and gaining weight.  Every day was a struggle.  Every hour was a struggle.  She wouldn't eat.  With her oral aversion she screamed at the mere sight of a bottle.  Her projectile reflux was non-stop.  She couldn't poop.  She couldn't be comforted or soothed.  We saw specialists for gastroentestinal issues, post-op surgery appointments for her duodenal stenosis correction, geneticists, pulmonologists, cardiologists, opthamologists, developmental pediatricians  ....  I felt like our lives were now ruled by doctor's appointments, diagnoses, and new things to try.  Early Intervention services began.  And through every minute, every second, I held my breath, waiting, too afraid that yet another thing would go wrong.  Some days I just cried.  I cried for the pain my baby was going through, I cried for the journey of parenthood that we expected but never got.  I cried and grieved the perfect baby I would never have.  Some days I didn't know how things would ever turn out right, some days felt more like nightmares than the beauty and treasure a newborn should bring.

 

But somewhere along the way, we turned a corner.  I can't tell you when that moment was.  But it happened.  So slowly I didn't even notice it.  But when I look at where we were, and where we are now, the differences are staggering.  Elizabeth just turned 3.  She graduated Physical Therapy but still receives Speech Therapy for feeding and Occupational Therapy for sensory issues.  The hole in her heart has closed on its own, which happens in less than 5% of kids with her type of ASD.  She takes 98% of her food by mouth (a complete turnaround from two years ago) and we rarely use her G-tube anymore, and she is gaining weight.  Albeit incredibly slowly, but she is gaining.  Her duodenal stenosis and anterior anus were surgically corrected and although she still has some GI issues, for the most part she is fine.  She also has ear tubes and had her adenoids removed.  The RSV shots helped her during her first two winters home.  She attends daycare 3 days a week.  My two pound miracle who's spent 116 days in the hospital, had 4 surgeries, has been on countess medications, who I watched turn blue and de-stat in front of my eyes multiple times .... is now a happy, healthy, thriving, witty, devious, silly, charming, giggling three year old.  There are days that the first two years of her life seem like a thousand years ago, just a distant memory, a blur in time.  To see how far she has come is nothing short of a true miracle.  It sometimes seems impossible that the fragile creature in the NICU 3 years ago now says to me "I love you so much Mommy."

 

Yet still, I hold my breath.  Instead of being able to let go of the past and be happy for where we are now, I cling to her diagnoses and specialists and problems, there is a desperation in the comfort and security I find there.  For so long that was the only life we knew, that's what I got used to, it was the new normal.  I am now faced with the challenge of accepting that my daughter is fairly "normal".  She still has issues and challenges, but it's a far cry from where we began on this journey.  For some reason I am not able to let go of her being a special needs child, of being a preemie with health issues, of counting MLs and ounces and calories, of worrying every second of the day if she was having an apnea or bradycardia and waiting to hear the beep of the monitor, hoping she wasn't aspirating on reflux yet again, of having this fragile child who can't survive without me.  But that's not our reality any longer.  I am so terrified and afraid that this beautiful ending will somehow go wrong.  I hold my breath and wait ... and wait ... and wait for the other shoe to drop.  Perhaps it never will.  Probably it never will.  But I live terrified each day that something's going to go wrong.  I still look at her and see the medically fragile preemie from 3 years ago, instead of the strong child she has grown into.  It's not fair to her for me to live like this.  When do I let go of this breath I have held since I saw the look on that doctor's face?  How long will I be waiting to exhale?  At what point do I come to terms with the fact that she's going to be okay, she's not going to die?  When do I accept the good that I have and stop focusing on the bad that is no longer?

 

The child I see in front of me today astonishes and amazes me.  She is my world.  She needs a mother who can live in the present and let go of the past.  Even though our reality is so much easier and more beautiful, the past is still my comfort zone, difficult as it was.  It's what I know, it's where I feel safe.  Change is monumentally hard for me.  I think that moving forward each day will be a continual fight for me to accept the amazing reality of the wonderful present, to let go of the complicated and difficult past .... to exhale this breath I have held for three long years ... and to watch the beauty of my child's existence unfold before my eyes.

I Loved You Your Whole Life

Like an instinct I knew you were there.  I held onto the small plastic device that would in a near instant be the confirmation I did not need.  I could already feel you burrowing into a place deep beneath my heart, immersing every part of my existence in a new level of love I had never felt before.  I was filled with so many emotions, astonishment working as a mask to cover the fear of the fact that you were not planned.

Like a trance you immediately came over me, the love I felt becoming more powerful by the day.  I had a new strength I did not know existed within me, a will to stand and fight wars of words, to overcome obstacles out of the realms of this world to protect you.  You quickly became the only thing I truly needed, the one thing I did not realize I was missing in this life.  You became my everything.

Like an instant change of course you became my future, the clarity I had never had before.  Every single plan now surrounded you; things I did not even know could be desired for were now my only focus.  My every will to become a better human was to make you proud of the person you would one day call Mom.  I wanted different for you.  I wanted better.

Like a constant motivation you drove me to treat my body like the temple it always should have been.  I had an untamable desire to keep it a perfect place for you to grow.  Every single; bite, step, and hour of sleep carefully calculated to be sure that you would continue to thrive.  If only it could have been that simple.

Like a flash the winsome world that you had created with your presence abruptly turned to shades of grey.  The eight weeks of perfection that had been your life had become endangered by symptoms that were getting worse by the hour and words spoken by carefree doctors in cold emergency rooms. The echo of “threatened abortion,” still haunts me to this day.

Like an instinct I knew when you were gone.  As your heart beat slowed to a stilled silence, so did the parts of me that had any will to keep moving.  A certain death overcame my very being; a pain enough to match the love I once had living deep inside of me, a despair masking any joy I once had.  I could not remember how I even used to breathe before you.

Like a forced sense of self-worth I had to will myself to survive.  The person I had been before you ceased to exist.  You came into this world forever changing me and then left, taking pieces of me with you.  I had to continue with what was left of me, however small those pieces may be.

Like a tattered sailboat drawn to the shore, I came to find my solid ground.  It hurt me to think of what had become of the person I wanted so badly to be for you.  I needed to do better, not only for my own well being, but because to not do so was to openly admit to myself that losing you left me no longer your mother, and that was a thought I simply could not bear.

Like a prayer I carry you inside my heart to this day.  The nine years that have passed without you often seem like an eternity compared to the nine weeks I held you.  The very foundations of the mother I am today are owed to your existence.  Not a day goes by where you are not in my thoughts.  Four children now to fill my arms and I still wonder what it would have been like to hug five.  I know one day we will be reunited, until then I will continue to live on knowing I was blessed to love you your whole life.

Let's Get Real

Special needs parenting does indeed have its gifts.  It teaches us patience and resilience.  It forces us to be better people.  It forces us to find our voices, so we can advocate for our children. It opens the door to friendships with people we may never have ordinarily crossed paths with.  Every time our child learns something new, the pride we feel is immeasurable. No "milestone" is taken for granted.  We get huge  amounts of joy from the smallest accomplishments, things that other parents may take for granted.

But there is another side to the story. One we are sometimes shamed into not sharing. One we are supposed to "suck up" and hide away, because some people are uncomfortable with hearing our pain.

So let's get honest. In many ways, special needs parents get a bad deal. My husband was fired from his job (with a Disability Services provider!) largely due to taking too much time off to attend Sophie's appointments. They refused to accommodate part time work. I've had to take more than two years off work (and am at possible risk of losing my job)  because of depression and anxiety largely resulting from a traumatic birth, chronic sleep deprivation in Sophie's early years and high stress around Sophie's extra needs.

Make no mistake...I am FULLY aware that there are plenty of parents who have kids with much more devastating issues than Sophie. But I'm sick of minimizing what we go through. And today I'm going to be brutally honest.

As parents to a child with special needs we fight. All the time. We fight for access to services. We fight to be heard. In Sophie's first year I was accused of being "paranoid and delusional" by one pediatrician, an "over-concerned" mother by at least three other doctors, and other unmentionable things by more doctors than I can remember. All because I thought my daughter had a genetic condition, and they thought I was imagining it. They were wrong, I was right. They shamed me and made me question myself, because they would not look outside the square.

A doctor at the sleep clinic at our local children's hospital refused to listen to my opinion that Sophie's chronic waking and screaming were pain related. He said she was waking because I was depressed and we had poor bonding, and if I was just prepared to let her cry it out then she would sleep. Would you let a child in pain cry it out? I wouldn't. We healed her pain (through the GAPs diet) and she started to sleep through the night.  If we had listened to that doctor's advice, she would still be living in pain.

Special needs parents fill in paperwork. All the time. We can't just enroll our kids at daycare or school or ballet classes or soccer and be done with it. We have to have special meetings, and write up information on our children's challenges, educate the teachers and carers in how to help our kids. Check in to make sure that our instructions are being followed. A teacher at Sophie's special needs kindly fed Sophie gluten (which she can't tolerate, and the teacher knew) and she had the hide to tell us she "figured it wouldn't kill her". Sure, it didn't, but was the teacher the one who had to get up in the middle of the night when Sophie was screaming in pain afterwards? I think not.

We have to hold our children down while they scream as they have blood drawn. Cradle them in our arms as they are anesthetized. Cook special meals for them because their systems can't tolerate a "normal" western diet. Console them when they tell us they asked all the kids in their class if anybody wanted to come to their place to play, and they all said no. Console them when, at just four years old old, a child in their class spat on them. We have to trek around and sort the wheat from the chaff when it comes to medical professionals and therapists. We question ourselves ALL the time...are we doing enough? Are we doing too much?

We have to teach our kids basic skills that come naturally to "normal" kids. We have to watch on while they are rejected by their peers. We have to face the shame of seeing that our own kids are so much braver, more positive and more courageous than we are.

We love our children without doubt...deeply, endlessly, honestly. And at the same time we sometimes hate the things we have to do every day. We hate the endless list of doctors and therapists. We hate the fear of wondering when the next thing in the list of issues associated with our child's diagnosis is going to raise its head...for us, with Kabuki... epilepsy, kidney failure, chronic immune deficiency, hearing loss, joint replacements and more. When our daughter complains of sore legs and asks to be carried, we have to wonder whether we are indulging her, or whether she is having legitimate joint pain associated with her disorder. We have to face the stares of parents who watch us carry our child into the water while she is screaming...because they think we should wait until she is ready, and we know she will only ever be "ready" by being pushed past that barrier of fear. We berate ourselves for looking too far into the future, and question whether we have looked far enough into the future to provide the assistance they may need to help avoid some issues.

As grown adults, who have been used to being financially independent for years, many of us (yep that's us) have had to accept financial help from our parents. Which we are so utterly extremely grateful for, but that makes us feel small and beholden and inadequate. We won't deny Sophie the therapy that our parents have helped us to afford, but we feel guilt that we can't do it all ourselves.

Generally we minimize it all. Almost all of the time. We write and talk about the positives, the pride, the joy. Because the average person doesn't want to know, they want to tell us to be positive. And because we are SCARED that we will lose friendships if people know that these deep and dark thoughts are within us. And yes, positivity is needed, and a great thing to strive for. And positive reinforcement is invaluable. But sometimes we just want to be heard. We want to cry for our children's difficult life path. We want to be held in our pain, and allowed to process it, rather than being told to deny it.

I love my daughter. More than words can say. I hate my weakness. And here, today, I am choosing to share it. Not for pity, not to be judged. Just in the hope that other special needs parents might not feel so alone.  And perhaps that parents without children with special needs may read this, and get some insight into our lives. Special needs parents can't hold it in all the time. We are human. We are not "special people", chosen because we have "special gifts to offer". We may perhaps end up being "special", because we have to travel this path. But it is not one I would wish on anyone. Parenting is a challenge for anyone. And sometimes, as special needs parents, we need to grieve and moan and cry. Not all the time, that's not what I'm saying.  But if we are heard, and understood...it is THEN that we can accept the well-meaning advice to "get on with it" and "see the beauty" and fully move into the role we have been called to fill.



Check out Kathy's blog if you would like to follow her journey with daughter Sophie.

I just want to know WHY ....

Today at 10:48AM my phone rang.  It was the genetics counselor from Boston Children's Hospital with the last of Elizabeth's test results.  I had spent the last two months holding my breath, waiting for this call.  I stared at the phone for several rings, recognizing the number, unable to move, before I finally answered it.  The last of my daughter's genetic testing had come back with normal results.  I should have been ecstatic.  I should have been jumping up and down.  I should have been relieved.  But instead I felt lost somehow.  I felt like we were back at square one.

So what was square one?  At 27 weeks pregnant I was admitted to our local children's hospital in pre-term labor with excess amniotic fluid and placental abruption.  On the ultrasound they were able to see Elizabeth having a "double-bubble" (an intestinal obstruction) and an Atrial Septal Defect, or ASD (hole in her heart).  I was terrified.  They told us she had Down Syndrome, and we got our first diagnosis.  The results of the amniocentesis would be prove that she did not have it, however, as would the blood they took from her once she was born.

Elizabeth had major corrective surgery on her duodenum at 12 days old, weighing just about 2lbs.  She spent 3 1/2 months in the NICU and came home on oxygen.  She has severe GI issues from the time food enters her body to the time it leaves.  Feeding and oral aversion have been an issue since day one, and we still work with a speech/feeding therapist 3 times a week.  We don't use her G-tube as much as we used to, but she still needs it.  She also receives occupational therapy for sensory issues and is phasing out of receiving physical therapy.  Elizabeth's lungs have long term issues from being born so soon, and she has fairly severe allergies as well.  The hole in her heart has almost completely closed on its own, we got very lucky there.  We currently see a special pediatrician from our local children's hospital as well as a pulmonoligist, cardiologist, geneticist, gastroenterologist, surgeon, developmental pediatrician, and early intervention for her therapy services.

There are times that I feel as though my daughter's entire lifespan has been a search for something to explain this journey - something to explain my pre-term labor, her prematurity, her intestinal obstruction, her GI issues, her eating difficulties.  I feel like I need a reason why. I have to know why. Why were we selected for this journey?  Why us?  We aren't anyone special.  I want to know why we were chosen to have her, why she was meant for us.  I want to know why things went wrong.  I want a diagnosis, I want a name, I want a label.  So often we hate labels and they are a terrible vice, yet that is all I have been grasping for.  I want a diagnosis so I know what the future holds, so I know how to prepare better to help my daughter.  I want to know if this would happen again, should we decide to have a second child.

I have a special needs daughter, but I don't know how to explain what's wrong with her, because I don't know myself.  There is no name for what she has.  We have lots of individual diagnosis, but she doesn't have an all-encompassing diagnosis that would explain everything.  People ask me why she was premature, why she has a feeding tube, why she won't eat like "normal" kids, why she has sensory problems.  There is no quick, easy answer.  They ask when she is going to be better.  I don't know what to say.  Better than what?  Compared to a year or two ago, she's doing phenomenal, she's making leaps and bounds.  I don't know how to explain things about my daughter that no one will ever understand.  And it's difficult to explain something to someone when you're still searching for the answer yourself.

The Down Syndrome diagnosis during pregnancy (while wrong) started us on a road of genetic discovery that I desperately hoped would lead to an answer.  In the process we learned that she has 42 genes on her 4th chromosome that are identical - so for those 42 genes, she got both sets from the same parent.  We don't know which parent.  And unfortunately, no one could tell us what that meant.  Those genes aren't associated with any known conditions or diagnoses that correlate to her birth defects.  Our local children's hospital, while wonderful in many areas, is lacking in experienced genetic specialists.  They tested for 22Q and a few other things.  Everything came back negative.  I was searching, searching, searching for answers. 

Elizabeth's speech therapist suggested Boston Children's Hospital, so I asked her pediatrician if we could go for a second opinion.  In doing so we met wonderful clinicians and doctors - brilliant, caring people who spent more than 3 hours with us, late on a Friday afternoon into the evening.  They explained what they think happened with Elizabeth's GI system during embryo/fetal development, and that they didn't think it was related to her chromosomal anomalies.  They saw her heart as unrelated to both the GI and chromosomal issues.  Still, they saw some things they wanted to test for, so we had blood drawn and sent out.  FragileX came back negative a few weeks ago, and today TBX1 came back negative as well.  Boston offered to send us to a privately funded organization for whole exome sequencing, but only 30% of the people that go get an answer. But at what point do we stop searching for an answer we may never get?

While I am happy that the last test result came back negative, I also feel frustrated and lost.  Part of me wanted one of these tests to be positive, if for no other reason than I need an answer.  I need a condition, a name.  I feel like Boston was our last chance for a concrete cause, or reason, or diagnosis.  At this point I don't think we're ever going to get that.  I don't think I'M going to get that.

And perhaps that's what this is.  Perhaps this search hasn't been so much to find a diagnosis for my daughter, but to find an answer and closure for myself.  As her mother, and my body her first home, I want to know that I didn't cause this somehow.  I want to know that I didn't do something wrong.  I want to know that her health issues aren't my fault.  Sometimes I think that's what a lot of us are searching for - peace of mind that nothing could have been done differently, that it wasn't our fault.  Peace to know that the guilt we hold so dear, so deep is not warranted.

It's strange, because it's not as though an answer would change or fix anything.  She would still have the same medical issues and challenges.  The outcome wouldn't be any different.  We would just know why it happened.  So why is an answer so important to me?   I'm not sure.  Would it make me a better mom?  I don't think so.  It is hard for me to accept that "these things just happen", or that this was part of my life's path, or everything happens for a reason, or that this was meant to be.  I am a very logical, calculating, type-A person.  I want to know why. I need to know why. And the harsh reality is that I will probably never know why. After years of searching, we have pretty much exhausted our options.



And maybe that's why the phone call this morning was so disappointing - because this was our last real hope for the answer so that I so desperately seek.  At this point there are no more specialists, no more tests.  There is only acceptance of the unknown.  We join the ranks of the undiagnosed.  We just have to accept that we defy the odds, that she is the 1% (actually she is 1 in 12,000 for duodenal stenosis caused by an annular pancreas - add in the other birth defects and chromosomal anomalies, and she is 1 in ..... some very big number).  We have to accept that things happen and not every pregnancy goes as planned.  Or rather, I have to accept that.  I know that there is a reason why she was born the way she was.  Maybe someday I'll find it out.  Until then, I just have to look at her beautiful smile, try to have faith in something greater than myself, and believe that things happened just the way they were supposed to .... even if I don't know why.

MOM Note:
At a recent conference MOM was able to speak with a few of the different agencies that offer Whole Exome Sequencing (as well as many other genetic panels). We talked with a rep from Transgenomic that told us that they know that the high costs of these test often take them off of the table as options for many families. Transgenomic will perform most test (with a script from your doctor) for $50 or less. This $50 may include testing parents and immediate family members as well- and they can come to you. According to their website and marketing material, 85% of the US patients are eligible for testing at this price. If you are looking at having genetic tests done for your child, and are worried about the cost, you may want to give them a call.