Ages and Stages

This was such an amazing weekend with Brandt, and I would not want to change a minute of it!

When Brandt was first born, everyone told me that around six months was their most cherished time with their babies. When we got to the six month mark with Brandt, it was still a lot of colic, crying, and confusion. At six months, he was so far behind with development that it wasn't a fun time, though I always cherish every moment with my son.

Now, just six months later, we have hit the "fun" times. And though he is late at hitting these milestones, I cherish them that much more.

The past two weeks, Brandt has been going full-force in transitioning to sit and stand. He is all over the place--and he always has to have his hands where they do not belong! Over the weekend, he has started to "cruise" along the furniture, and, though he is not professional at it yet, it is so amazing to see! There is nothing more priceless than when my baby crawls over to me, grabs my pants, and pulls himself up, and looks up at me with his big, blue eyes!

We still have a long way to go as far as his crawling. And, we certainly have several months ahead before he will be anywhere near ready to crawl. Still, it is SO incredibly nice to see him developing.

Brandt may not be an early developer, but he is the star of my world. I sincerely believe that every child goes through the ages and stages when they are ready. And, until then, I will eagerly await his next development!

Protective Reflexes

Yesterday was just another day in the life of Brandt. Eat. Sleep. Play. Therapy.

Someone asked me if therapy, at his age, was more gauged towards playing. In some ways, it might look that way to the untrained eye. He gets to use all kinds of colorful, unique "toys" and has someone who "plays" with him. Only, for Brandt, it is not playing. The things they do in his therapy are not fun and play. They are challenging and strenuous. He has to use muscles that he is usually unaware of. He has to strengthen muscles that are very weak. And, he has to have the endurance to do this for an hour.

Yesterday, they worked more on his hypertonia by strengthening his core muscles--more specifically his protective reflexes. For instance, when he is sitting at his table coloring or playing, he might lose his balance and tip to the side or fall backwards. Most babies would either try to counteract that tip or they would put out their hands to try and catch themselves. Brandt does not do that. He will just fall wherever gravity takes him. The therapist instructed me to continue working with him on the physioball at home to help with his protective reflexes.

Luckily, Brandt's school allows his therapy sessions to take place in the one-year-old classroom so that he can prepare himself and work on the skill necessary. The therapist was also able to work with Brandt on maneuvering around some of the obstacles in the one-year-old classroom, which she said he was getting better at crawling around and over. She worked with him on getting in and out of the table and chairs. He does well getting out of the chair, but he is still having some difficulties with getting into the chair.

And, so, my protective reflexes are going at full-force, where I want to do everything and anything for my son. Progress is being made, but it is slow. At times, I feel like not enough is being done for him. I feel like once a week is not consistent enough for him. I can't do much with him in the evening because it's usually routine nap, food, bath, little play time, and bed. Therapy is so busy working on the little skills that are necessary to get him into the one-year-old classroom that he is not getting the necessary practice on other important skills--like cruising, holding a cup upright, and perhaps walking. It seems so silly to me that time has to be spend to teach him skills as simple as banging two blocks together (which he has still not mastered), and yet I understand that it is a necessary step. I just wish that there was more being done. But, for now, it is starting with the basics and working on protective reflexes.

You're Going to Miss This

 

This weekend has been such a wonderful time with my son. Sometimes it is nice to not think about all of the battling--but to just be a mom. I want to enjoy every moment with my son. I wish the world could see him the way that I do...

This weekend, he was so joyful and curious. He tried to pull-up on everything now. Though he's gotten a few good bruises, he is determined. He was a little jabbering machine, too. And, though, he can't really say any words yet, I know once he can he will never stop talking! He is so inquisitve of his surroundings, and he is willing to explore every square inch I will allow him.

I know that God gave Brandt to me for a reason. I will see him for everything that he is and help him to achieve everything he isn't ready for yet. He will be and do everything when he is ready, and in the meantime I will enjoy him being my sweet, baby boy!

Days like today remind me of this Trace Atkins song:
You're gonna miss this. You're gonna want this back. You're gonna wish these days, Hadn't gone by so fast. These are some good times, So take a good look around. You may not know it now, But you're gonna miss this..."

 

 

 

 

My Back's Against the Wall...

There are so many days where I feel like the whole world is working against me--like all of my efforts are getting me nowhere at all.

Yesterday, Brandt was scheduled for his MRIs. They called me the day before (Wednesday) to go over all of the pre-op do's and do not's, and they prepared me for the seven hours that I should expect to spend there. I carefully wrote down each instruction they gave me and prepared myself for what would lie ahead on Thursday. Still, I knew Thursday would never happen....

Monday at school, Brandt's eating was not good and his teachers seemed to think he was starting to come down with something. Tuesday morning, I left for work after telling my husband to call and schedule him an appointment with the doctor. He reluctantly called, but Brandt's pediatrician and ENT were both booked. I told him to take Brandt to the Pediatric Walk-in office, but he was concerned that they would not know how to treat Brandt (with everything else he has going on). Furthermore, he said that Brandt seemed to be fine and didn't need to see a doctor. Tuesday night, a belly bug reeked havoc on my baby's sensitive belly, and he woke up Wednesday morning covered from head to toe in diarrhea. Still, I had too much going on at work and sent him to school. Around 3:30pm, Brandt's school called me to pick up Brandt. He still had an upset belly, and his fever was 101. I tried to hydrate him, but he refused everything I offered. By Thursday, his fever was souring past 102, and the anesthesiologist said they would not sedate him while he was sick. So, no MRIs.

I was mad, frustrated, annoyed. I was outraged that maybe this could have been prevented if he had been taken to the doctor when it was first starting, Monday. I was mad at the world, but the only one able to take my frustration was my husband. Poor guy took the brunt of my moment of weakness, and I took the brunt of his. This is such a difficult thing for us to go through, and the process is definitely taking its toll on us. Part of me, in the heat of the moment, thought that he was relieved that Brandt was sick because he was against the MRIs. Of course, I know this is not true because already paid the hospital fees. But, in that moment, I just felt like to whole world was working against us.

And then came the rescheduling. Brandt is always sick. He has pretty much had one infection after another since the end of February. And they schedule MRIs a month out, so he now we are looking at mid-June. And, heaven forbid that he is sick then--so then we would reschedule for July? Aug? Never? Like, I am not trying to be so pessimistic, but it is a fact that he is ALWAYS sick. So, believe me--that week in June--Brandt is not going to school. He is going to live in a bubble!

Bound not to let the day go to waste, we took Brandt to the ENT and got him an antibiotic. We then drove over to the hospital to get a copy of his newborn screening--which the geneticist was hoping might give us some insight into his abnormal labs performed by the neurologist, showing elevated levels of acylocarnitine. The newborn screening offered not one drop of insight. It was the most vague lab report I had ever seen. It did not give values, but, rather, stated "in normal range." I wanted to know the specific value just to see if it was on the higher side of the normal range, but apparently life is just not that simple.

The rest of the day consisted of a lot of Brandt crying, screaming, souring fevers, and refusal to eat or drink. My husband actually had to give Brandt pedialite out of a medicine dropper so that he got some fluid. The night was rough, and it was past 1:00AM before he was sleeping soundly. Poor baby.

The good news is that his fever did finally break, so I am hoping that he will be feeling better for his party tomorrow. All we can do is give him his medicine and continue the fluids. Prayers for my sanity please because I am at a point where I just feel like my back is against the wall and there is just no more moving forward.

Welcome to Miami, Bienvenido a Miami

The decision to go to Miami was an important one, and I do believe that the drive was well-worth the results.

Thankfully, my husband was able to go, so I did not have to drive. Instead, I spent much of the drive down to Miami gazing out the car window and meditating what was and what could be. There were times where I would gaze out at the tree farms for a brief moment, but then I'd look at the clock and thirty minutes had passed. And, at other moments, time stood still.

Once we arrived at Miami Children's hospital, I knew we were at the right place--MCH had pediatric doctors of every specialty.

We got into the Geneticist's office about an hour early, but they took us back right away. We spent the following hour with a resident doctor, discussing some of the indicators we had observed, as well as creating a family history profile. The doctor also reviewed the bloodwork sent over by the neurologist. Unfortunately, the genetic microarray was not yet completed from the lab facility (as it takes about 6wks), and that was an important thing they really did want to see.

Finally, the geneticist came in. As the resident doctor reviewed our case with the geneticist, she inquired for further details on certain aspects, such as how long he had been receiving therapy, if MRIs had been ordered, was a brain MRI included, when they would be performed, what were to qualifications of our neuro-opthamologist, what milestones was he not meeting...?

The questions continued at a steady, calm pace until we finally arrived at the labs from the neurologist. Then, the geneticist frantically flipped through the labs to compare the elevated aclyocarntine with other levels measured. She spent a good five minutes talking to herself, flipping back and forth through the lab reports, before she finally asked us if Brandt had any problems with his newborn screening. She continued to explain that this problem should have been identified then, and that it is extremely rare for this type of problem to go undetected or to develop after birth--but noted it does happen. The geneticist ordered a second set of labs to confirm the previous findings, but did indicate that if the labs confirmed the condition that it would be a mild case of isovaleric acidemia.

Isovaleric acidemia is a genetic condition that is characterized by the mutation of the IVD gene. Each parent must be a carrier of the recessive gene mutation. This gene plays an important role in the breakdown of the leucine protein, which is found in eggs, fish, poultry, and meat. Upon breakdown of these amino acids, energy is made for growth and development. When these proteins don't break down, however, abnormal levels of organic acid builds up in the blood and can cause a wide range of complications from mild to severe, including poor feeding, vomiting, seizures, lethargy, coma, and death.

The geneticist then moved on to a physical exam of Brandt. She poked, prodded, measured, and tested him in various physical and developmental aspects. She then commended the neurologist in ordering the brain MRI and said that the results from that might point us in the right direction. She examined Brandt's sacral dimple and said she did not think that the dimple would be the problem and said that the brain MRI will probably show us what we need.

I was relieved that his metabolism condition would be a mild case--at worst. I was relieved that the geneticist wasn't alarmed by the sacral dimple. I was, however, mortified by her continued insistence on the brain MRI. In many instances, the spine can be fixed with surgery. Metabolic conditions can be regulated with a restricted diet and supplements. What can they do for a brain condition--nothing that I know of...?

So, we press forward. We keep going, and we fight harder. Unfortunately, we will not return to the geneticist until mid-July. We will, however, have the spine and brain MRIs in week, and then we will follow-up with the neurologist for those results a week later. Brandt will be tubed at the beginning of June, and he will see the neuro-opthamologist in mid-June. And, then, in July, we will return to the geneticist--unless, he is walking and talking in two months time! :D

Time to Think

Time between appointments is rough. It just gives me too much time to think and wonder and worry. I am to the point where I constantly feel like my heart is racing. I spend every free hour I have researching and reading about symtoms, conditions, and causes. I have read and re-read. I have followed link after link in search of answers to find that I really know nothing at all. I find myself obsessing over every little thing and over-analyzing anything that is out of the norm for him.

Yesterday, at school, Brandt fell asleep in the middle of lunch. Any of you who know my kid know that he never misses a meal. If you don't know Brandt, let me fill you in--he didn't obtain his 25lbs of weight at 11months by sleeping through meals. Then, last night he fell asleep in the middle of his breathing tratment, which he usually throws a fit through. So, of course, I was obsessing last night. I began to think about how much extra sleep he has been needing lately, how lethargic he has been. Then, I tie that to a symtom of both anemia and acylocarnitine. And, of course, this makes me even more alarmed.

Each day, I die a little bit more inside, I lost a little bit more spirit. As he gets older, his delays are more noticable. Just over the weekend, I was at a birthday party for one of Brandt's friends. He couldn't do what the rest of the children were doing so the mother offered him a toy walker/ push toy. I told her he couldn't do that and that he was fine. She then quickly rebounded with a ride-on toy, and my heart sank--he couldn't do that either. It's the little things that all seem to add up and hit the hardest. I know as he gets older, there will be so many other things that he will not be able to do with his peers, and it brings tears to my eyes. All I want for my son is an ordinary life.

I find myself pouring hundreds of dollars into anything and everything that will help him develop. I search specialized websites and stores. We have tons of toys to promote balance, strength, and endurance. And, because he can't move into the 1ya classroom, I even went as far as to buy the same chairs they have so that we could work with him on that.

Sleep has been hard, and I think I've been averaging about four hours on a good night--which never plays well on my emotions. I feel like I am all over the place. These days I feel like I am on an emotional rollercoaster. Some days I feel strong enough to take on the weight of the world, while other days I just want to disappear. I feel sick to my stomach most of the time, and I am sure my bloodpressure is through the roof. Sometimes I just want to break down and ask God why? And, yet, I know that it does no good to stew over why, but rather to push forward with what? What does he have? What can I do for him? What resources are available?

It is amazing how quickly life changes. Just six months ago, I was obsessing about completing a Master's in counselor education. Now, my biggest goals are getting into the best doctors as soon as possible. I once put on my bucket list to author a novel, and now my writing is more centered around Battling for Brandt. Days stand still between appointments, and all I am left with is too much time to think.

Coming out of the Closet

Slowly, I've been opening up to people about all the battles we are going through with Brandt. About two months ago, I told the teachers in my grade group, and then a month ago I started a blog and shared the link with my facebook friends. Then I told my school committee members. I started adding more teachers from the school to Facebook, knowing they'd see the link. And, yesterday, I finally put a paper in each teacher's mailbox, inviting them to join my blog. And, through the grapevine, my boss found out, too.

When I approached my boss about taking a day off, she told me she had read my blog. At first, I was amazed that someone of her stature would take the time to read my silly, little blog. Then, I was perplexed that she hadn't heard others in the office talking about it. Nonetheless, she had read it now, and everything was out there in the open. It was such a huge, tremendous relief. I keep replaying the conversation I had with her, and it just relieves and amazes me how sensitive and understanding she was to the situation. At one point in our conversation, I wanted to cry and in the next breath I was speaking of strength and determination for my son. After all of that, I now have a new, deeper level of respect for her. I am now able to view her as not just my boss, but also a person.

Earlier this week, which just so happened to be the day that the neurologist called me back about his elevated levels of acylocarnitine, I was in the office trying to calm myself down, went to my mailbox, and found the sweetest thing--a card and a bag of cookies from another teacher trying to show her support. It was coincidental timing, but it meant the absolute world to me because in that moment, the only thing I had going for me was a few delicious cookies. LOL

As each person has found out, it has become easier. I don't feeling like I'm walking around with a mask on. I don't have to face the daily questions of "how's that baby? Is he crawling yet? Is he walking? Is he talking?" When people don't know about the situation, they don't know how badly those questions hurt and bother me. When I told my committee that I needed help, I didn't feel so bad. Sadly, because these people were unaware, I felt awful when I stepped down as treasurer for next year. Everyone kept saying, "Why are you leaving us? You did such a good job this year!"

Each day does get a little easier, and I kept pressing forward, now with a little more support. Coming out of the closet about all of this took a lot of courage, but it was something that has brought a lot of strength, too. God bless my family, friends, and colleagues for all of their support!

Back to Battling

Well, last night I fell apart, but then I quickly regrouped and researched. I spent much of the evening and early-night hours finding out all that I could and preparing myself for today. I mind was restless and my heart was steadfast.

I started today on a mission. I was no longer a moping mom but a battler for Brandt. I feel like I spent most of the day on the phone, but I got all the necessary appointments scheduled. We are ready to move forward, and I will not settle for anything but the best care for my son.

On top of schedule appointments, I got a call back from the pediatrician's office. They got the labs back that the immunologist ran, and all seemed normal except that Brandt is anemic. The nurse said that they wanted me to put Brandt on a multivitamin with iron. When I told the nurse that he was already on one, she didn't know what to say. I then informed her of Brandt's genetic bloodwork and how that affects metabolism, and she said she'd inform the doctor and let me know if he wanted me to do anything further with the anemia. Doubtful, considering anemia is probably a symptom of the much larger genetic condition.

So, the remainder of our month looks like this:
>Follow up with the allergist
>Miami Children's Hospital for a consult with the geneticist

>echocardiogram at Martin Memorial
>4 MRIs at St. Mary's Children's Hospital
>pre-op visit with ENT for tubes

>follow-up with neurologist
>1yr (un)well-baby visit
>And surgery for tubes...

I am not sure if we can fit that much more into our schedule in the course of one month, but the geneticist might have tests of her own that she might want to cram in there?!?!

I'm a little annoyed that I have to pick and choose what appointments I can go to and what appointments my husband can because I am running out of time to take off. So, I guess I won't go to the allergist, well-baby, or ear tubes surgery. I will go to MCH for genetics, SMCH for MRIs, and neuro for results. It kinds of seems unfair that it is this way, but the challenges in life is what makes us stronger, I suppose. Thank goodness the summer is rapidly approaching, and I will have a couple months to take care of as much of his testing as I can.

Oh well, whatever it is, I am ready for it. I will do whatever I have to do to help my so live life to its fullest. I'm head-strong and ready to battle for Brandt!

A Never-Ending Nightmare

I feel weaker than I ever have in all of my life. There are days when I just want to ball up in a corner and fade away. There are days when I am mad at myself for doing this to my baby. And, there are days when I feel like I am stuck in a bad dream. Today is beyond that--today is a never-ending nightmare. One of which has drained me of all emotion and happiness.

The neurologist called today with the results of Brandt's blood work. Any of you who have had blood work done know that they never call you before the follow-up appointment unless there is a problem. While they are still waiting on some of the labs to come back, they got some results back that found that Brandt has elevated levels of acylocarnitines. The neurologist is referring us to a geneticist for further genetic counseling. He also said that a muscle biopsy would need to be done, along with additional blood work.

After getting off the phone with my husband and dropping off my students at resource, I walked in the front office door and broke down. I fell to the floor crying. The pot had been boiling for so long, and it finally came boiling over. At first, working seemed futile because I just didn't have the emotional mindset or the mental capacity to focus. Still, the kids got me through the day and kept me distracted from the realities I was about to face.

So, you must be wondering what is acylocarnitines? Well, me too! From what I was told, it is a genetic condition that can cause about twenty different disorders. (That's not much help.) Most of these disorders, however, have to do with how the body metabolizes food and makes and stores energy--which is directly related to muscle development. In many cases, these conditions have low life-expectancies. In others, it can be regulated with a strict diet and medication. So, it really boils down to what disorder he has specifically.

While there is hope that it can be regulated, that does not make the situation any easier to digest. My poor son cannot catch a break. So far, he has been diagnosed with horizontal nystagmus, hypotonia, asthma, and now this??? He has to be sedated for tubes, four MRIs, and a muscle biopsy--all at different times. It is so hard to go through it all, and most of the time I feel like I am going through it alone. I feel like I can't catch a break--like this is just one long, never-ending nightmare.