Our “Rare” Boy


imageThe results are in and the score has been tallied. After several months of various tests, trials and many tribulations, Theodore has been “diagnosed”.

Not really fond of the word diagnosed, because it sounds like he is ill. However, he is not, and instead just EXTRA-ordinary.

The Neurologist and genetic counselor did a great job of explaining Chromosomes (because well it has been a while since I had a lesson). Even though I understand the basics of chromosomes, I was thankful they created a personalized Power Point for Theodore to explain the complexity.

The genetics counselor explained how his connected and how little probes were sent into his blood samples to find the missing or added pieces and the problem. Then continued to explain how he was missing a piece of his 7th chromosome and then continued to give us the exact location….an address….

It was A LOT!!!

I am still carrying around the Power Point they created for us explaining all the details and it is what I have been handing to the family because… WELL… The PowerPoint does a MUCH better job explaining…

In my version of summing things up Theodore has a very RARE chromosome/autosome deletion. They call is a 7p22.1 autosome deletion. There are no syndromes or disorders associated with the deletion at this time, but there are some similar symptoms. Possible symptoms include: failure to thrive in infancy/early childhood, short stature, obesity, unusual facial characteristics,  neuro-behavioral disorders, developmental delay/intellectual disability/cognitive dysfunction, and loss of hearing.

However, some cases include one symptoms and other cases include more. It depends on the child and the severity. For us we still wait to observe and grow with Theodore to recognize his potential. Luckily, we have a great doctor, team and family that will be by our sides through each step.

There are some medical documents and information, but it is VERY rare that they are still researching and finding more information and details. They are unsure if 7p22 deletions are one in a million or BILLION.

Although, there are symptoms, as I said before each known case has been unique. Sooooo…in other words using Google to find more information is NOT possible and THANK GOODNESS. Googling can be SUPER SCARY.

Before we received the information we knew Theodore was RARE and UNIQUE, but now it is confirmed!!!

We have a RARE, handsome, fun loving, smiley little boy and for now we will, Report to Duty, and work towards giving Theodore all the possibilities and experiences we can. We will have to be patient with each step and we refuse to give up on pushing him to reach his full potential. When you see many of the symptoms you become fearful, but we know that our son is an individual. We know he will grow at his own pace and become the person God chose him to be.

Until next time,

Reporting to Duty

xox

Milestones

In my life I have always been a huge fan of reaching milestones. I have always seen them as goals and was adamant about conquering them and doing my best. Don’t get me wrong, there were moments where I failed. Nonetheless, I only try to remember the ones I succeeded and only took what I needed from those I failed.

When we found out we were expecting Theodore it was another milestone in our lives. Having children and growing our family is something we had always discussed and dreamed about on occasion. We were extremely excited and this was one of the first milestones we were reaching together. We were getting a chance to share our love through a “different media”.

During the pregnancy we discussed our dreams, goals and desired milestones for our unborn son and how we would be as parents. ….We discussed: sitting up, crawling, walking, running, playing sports, painting, getting dirty and being suspicious.

But we never expected the curve ball we were thrown…..

In the beginning the struggle was real……

We forgot or better yet dismissed all the milestones we had discussed for Theodore. We were focused on getting him to stop screaming enough to to eat and eating enough so he didn’t scream! We had to ensure his medicine and food were working properly so he didn’t just SCREAM, cry and shake…and well once we had this accomplished we had already reached ONE milestone!!

It was a MESS, a big hot MESS( and let me tell you we all looked like a mess too) …..During those rare times when he was calm we worked on Tummy time, getting him to recognize toys, getting him to grab toys and trying to get him to recognize his name. Then at four months we tried getting him to eat baby food, worked on sitting up and more tummy time. We were trying and trying.

HOWEVER… Each one of those was terrifying and a repeated failure. Most of the time the only thing we succeeded at was adding to the screaming, crying and shaking……WHICH added more complications to his digestive system.

BUT….we knew we had to try…we knew we had to keep pushing.

During tummy time he would only use his legs and work himself in circles. He would NEVER EVER push up with his arms or attempt at rolling over.

Then when we worked on baby food he would scream, choke or throw up.

He would NEVER reach for toys

He would NEVER turn his head towards someone saying his name, unless your voice was just right and you were in the right light.

He would NEVER attempt to roll over.

Basically, as we attempted each of the milestones we began to see no progress. However, everyone always told us that no babies reach milestones at the same time. In the beginning their was no worry, and then…..

It all began to feel defeating.

As months have gone by he has began to eat food, but will not eat baby food. So we have tried Baby Led Weaning. Believe me, I was obsessive about starting with orange vegetables, switching to green then trying fruits. Well Theodore made us throw this out the window and now we have FUN with food. Don’t fear…this is Doctor approved and he LOVES it. It helps his developmental milestones and he gets to practice eating. WIN-WIN!! We have now attempted self-feeding…still a work in progress.

We have learned that he has what is called Torticollis and has had it since birth. This causes turning of the head, lifting the head and other activities to be painful for him. So with PT and “baby massages” we have made progress! Yesterday.he actually pushed up during tummy time!! Huge step!!

Since we have worked on his neck, he has been able to learn to roll over, but often refuses to go from back to belly because he HATES being on his belly. You will often see him playing with his feet, begin to roll over and correct himself. You can see it all over his face like….. Woah, that was close. So rolling over happens, but we are still perfecting this milestone.

Glasses… Glasses, glasses…. They have helped a  TON. He has what is called Nystagmus and poor eyesight. We are still unsure how much he can see but we will know more as he grows. Before the glasses, as I said he would not look or play with toys that weren’t handed to him. Now with the glasses he reaches out of his zone, and puts everything in his mouth (including his feet) and looks towards people as they call his name. The shaking of his eyes has decreased and even when the glasses are off he is willing to look and explore. He now knows there is a world!!

Standing or what we call “weight bearing” and sitting up is still a work in progress. With low muscle tone Theodore has to build his strength and work in small steps. It can be exhausting, for all of us.

However, he is very smart and try’s hard… I mean, he grunts and sweats like a body builder at the gym. It is amazing to see his mental strength and his determination work, because it shows us he wants to meet his own milestones.

We know he has determination, and most of the time we laugh because we say he will talk before he does anything else. There are so many great things and milestones that he has reached and we try to focus on the positive when he gets discouraged.

BUT, do not get me wrong…we have times where we get discouraged and we know those are the times we have to be strong and push harder.

It is strange because you would never think that at 9 months old a baby could get discouraged BUT he does. When this happens we cuddle, give him loves and tell him he has done great and then REST, REST and REST.

We know he will reach his milestones and the doctors tell us that eventually he will reach his milestones. But, we know as parents we have to think of them as goals. We have to take them one step at a time and be patient. We know he will get there, but we are just unsure if it will be next month or next year.

For now, we will Report to Duty, every single day to be his parents and work through his milestones. Everyday we work on something and often things seem repetitive. We have to look at the big picture in knowing this is the best for him. Sometimes he screams and cry’s and it is heart wrenching, but we have learned that if we stop we are only giving up.

We wont give up!!

Until next time!

xox

Reporting to Duty

 

The Child We Wanted vs. The Child We Needed

I sit here taking a rest from all the things that need to get done… You all know as mothers that list is never ending.

Keith and I have been very quiet about our journey as parents thus far and now we have decided that sharing our story may help a few others. I warn you we will continue to share until we show other parents that each journey is hard and unique. Sharing is something that is hard for me personally.  I prefer to be private mainly because I fear judgement from others. However, with the help of those I love they have showed me that sharing helps me gain support and show others that they are not alone in their own battles. So please be kind as I share and don’t judge or spread rumors about our journey.

Some know our son Theodore has had some issues, but most of you do not know to what extent. When he was born I told myself that the struggles were me and that I was the one that was having issues dealing with parenthood. Things were hard, really hard….

Now nine months later, I have learned that it wasn’t me or postpartum depression but real health issues with our son.

It started with failure to thrive( aka severe weight loss and exhaustion) and I recognized his stomach was miss-shaped and he was throwing up… ALOT. His pediatrician kept telling us nothing was wrong and I was just being a new mom and worrying too much……so pretty much saying we are CRAZY!!!

(Now mind you, my mother has ran a daycare my entire life and I am the middle of five children and felt like I knew babies……but this comment made me feel like I was wrong! )

It wasn’t until we were away for the weekend with my family that Theodore developed a large groin hernia, we rushed to 2 different emergency rooms where we ended up with no help but coming back to NC where we were referred to a pediatric surgeon and had an appointment two weeks later.

At the pediatric surgeon, she recognized two groin hernias and also recognized his odd shaped abdomen. She requested an immediate ultrasound. A day later we had the ultrasound and three hours after the ultrasound we were called to have emergency surgery. He had what is called pyloric stenosis. This is where the small intestine from the stomach is too thick…. Well our son’s was CLOSED. He was getting absolutely no nutrition( which is why he had lost 1.5lbs)… So it was time to fix it all.

Surgery went great and we were out within two days, but something was still not right. He was still screaming, getting sick and not eating. We went back to the surgeon she said everything looked great but believed he had GERD and acid reflux. So we were prescribed medicine and sent to the pediatrician.

(…..So at two and a half months I was breaking   And concerned that we were killing our child. At this point he was still down almost two pounds from his birth weight and I seen no light….)

Once, we seen the pediatrician Theodore was prescribed medicine for acid reflux and GERD and was diagnosed with milk protein allergy…. So we were to give him a VERY expensive special formula called alimentum. This combination with many many MAAAANY changes in the dose of his medicine finally worked and he eventually began to gain weight.

We are in the clear right?????

NOPE.

Theodore still wasn’t reaching his developmental milestones, his eyesight and the shaking of his eyes was not getting better. BUT his pediatrician told us he was doing fine (right) and she seen no abnormalities. So we took the reigns and scheduled an eye appointment while we were home for the holidays. We chose a facility I have been going to since I was a child, because hopefully they would give us answers.

At the  appointment they referred us to a pediatric neurological opthomologist with Riley Children’s Hospital in Indianapolis( where I am from). She then noticed his lack of eyesight and FINALLY referred us to a genetic neurologist who would give us the answers!!!!

We finally we’re seeing answers and people caring for our son.

Two months later we had an appointment at Payton Manning Children’s Hospital with Dr. Escobar( this man is the best).

The appointment was nothing I was expecting, it was more. It was everything we needed and more. It was an answer from God.

During the appointment they took our family history ….back four generations and asked all questions possible. They recorded every sneeze, freckle, wrinkle,cough, and temperature that Theodore had in his short life. Then we waited for the doctor………

20 minutes later the Doc. Walked in grabbed Theodore from my mom and started talking to him and his genetic counselor. He ran through the tippy top of his head to the very end of his toes.

Then after he was finished Dr. Escobar turned to us still snuggling Theodore and said “something is wrong with your son” because of xyz….. He continued to explain to us that he would do whatever he could to find the source and the cause and from there we would create a plan.

I began to bawl, and my mom and my aunt began to bawl. I then proceeded to tell him I was sooooo happy. Not happy because something is wrong with our child, but happy because FINALLY someone sees what we have been witnessing. FINALLY someone understands that I am not crazy and that we need help. FINALLY we are going to get answers.

The docotor agreed and told me that it would take time and that the journey was going to be hard. I told him we were ready.

Scans, blood work, days of worrying and tests later we have made some discoveries. Theodore has Nystagmus, has to wear glasses, has started PT, OT, eye therapy and has to meet with and audiologist. He has low muscle tone, and also is missing part of his seventh chromosome ( this is so rare it is like finding a four leaf clover).

As we speak they are connecting all the puzzle pieces. They are wanting to see if the things that are wrong with him connect to the seventh chromosome or are another genetic and neurological issue…… More answers to come!!!

Through this journey we have blamed ourselves, stressed about him, prayed for more days, and answers, stressed about his quality of life, cried many many MANY tears and have somewhat lost our minds.

Sometimes this journey has been extremely lonely and confusing. We have lost our minds, had to be separated and have felt miserable/hopeless.

However, recently we have come to conclusion that God chose US to be his parents. He knew that we needed this child, he knew we could handle the journey. Missing a seventh chromosome is not genetically passed down but it is a mutation in the chromosomal strand.

This makes Theodore “supernatural” and it shows us that he has a purpose in our lives He is very smart, and strong.. Although not physically. We pray everyday he will be like every other “normal” child and see confirmation through the doctors. However, the path may be sticky.

We don’t know where we will be in three week, three months or three years, but we do strive, push and hope for the best.

When you have children you think of all the things you want in a child, but you rarely think of all the things that you need in a child. Theodore is what we needed, he has taught us more than we will ever know and will continue to teach us. I know he has shown us what we can do and how we can be better. We are thankful to be his parents.

With the journey just beginning we know we can only look forward to what else God has in store for us. We pray everyday for our Son…….and our sanity. But we have to Report to Duty, and be the BEST parents we can and push him in reaching his own goals.

So now that you have read this don’t assume or spread rumors, but if you have questions just ask us. As I said before we will now be sharing this journey, because we know there are others out their that will have similar circumstances.

Please Pray for us, send good vibes our way or just think of us and others from time to time. Because we need all we can get!!

Until next time!

Xox

Reporting to Duty