Alex's Story

As many of you know, Alex is not a “normal” 2 years old. As many say, “he is a boy,” and “he was premature,” but it goes beyond those basic statements. We hoped that it would be that simple, but as the months have passed Alex has yet to walk completely on his own or talk. He can walk, but he will fall down without support of a hand or a target to walk to. Falling is a hard one for Alex because, unlike most kids, Alex lacks balance. He does not have the innate ability to fall on his bottom or use his hands to catch him. He will literally fall like a tree would, and has slammed his head against our floors a few too many times. We are teaching him how to fall and how to walk with lots of physical therapy and occupational therapy, but it is definitely something that is being taught to Alex rather than him just knowing it. He is coming leaps and bounds, but he still is a long way from getting it all worked out. So if you happen to be next to him when he ventures out to walk on his own…stand behind him or keep a close hand near him to catch him when he falls.

Our neurologist at Cook’s has complete faith that he will walk, but it might still be a year down the road. The other big concern is his lack of communication. Alex grunts and makes many unidentifiable sounds. He has yet to utter those simple “da” or “ma” sounds that many 8 month olds are developing. This caused the doctors a bit more worry. So Alex had tubes put in his ears. He had a temporary hearing loss in his right ear, and it was corrected by tubes. Poor Alex had a million ear infections, and with the tubes he hasn’t had one. We hoped that it would improve his hearing as well. The hearing loss was corrected with the tubes, and we hoped it would open up his vestibular system and allow him to not only hear the sounds well but speak them too. It didn’t. So in February, Alex had a chromosomal microarray analysis (CMA) genetic test. This tested for every possible type of genetic disorder. The main one we were looking for was a disease called Angelman’s. This is a form of autism, often called the laughing disease. He had many of the symptoms for Angelman’s, as he has many of the symptoms for many disorders and diseases, so we thought we would start there. The testing took 4 months to process and the wait was horrendous, but we found out around the first of April that the genetic testing was normal! That was a huge relief for Matt and me because many of those genetic disabilities are greatly increased for any future children.

Since the testing came back normal, our neurologist decided to let Alex continue to grow until our visit in one year. I really like that he is not so quick to label Alex, and he is just allowing him to grow and learn before we start to throw down labels on him. Our occupational therapist says that many of her kids have been diagnosed with CP or autism, and 2 or 3 years down the road they find out that they do not have the disease. They were just late developers. I like that the doctors are not so quick to label, but I wish they could be a bit quicker about testing him to rule out a label!

So that takes us to this summer. We have physical therapy, occupational therapy, speech therapy, and a nutritionist (have you seen how skinny that boy is!) coming twice a month each. They have become part of our family I feel. They are always there. Matt hates that his evenings are interrupted by them so often, but I love when they come. They love Alex. As many of you know too, Alex is so easy going and light-hearted. He loves to laugh, and he is rarely upset or discouraged. He works so hard and tries so hard, and I know this is why he will be just fine in the future! He has a determination to succeed far bigger than most people, and he is only 2. Our therapists love to work with him because he loves the work out they give him. He thinks it is hilarious! Many of their patients cry and fight the therapy, but not Alex. He loves it! They give me so much advice and suggestions beyond their therapy role. They are all veterans of the ECI program (Early Childhood Intervention), and they have been with him since he was 6 months. They know what they are talking about, and I sometimes I think they tend to know more than the doctors! They were the ones who have shown me how to push the doctors into getting what I want and what Alex needs.

That brings us to the past three weeks. Alex has been constipated since birth; I know too much information. The first time I went to the gastroenterologist for this, they put him on Miralax (2 tbs. a day). We have done this for a little over a year. If I forgot to give him his meds one day, he went right back to being constipated. When I say constipated, I mean that he won’t have a bowel movement for up to 10 days. When he tries to go, he throws up even though nothing would come out. We would end up having to do suppositories to help him, and we repeat the process each time good ole’ mom or dad forget to give the medicine to him. Sorry Alex! I just felt this was not right! So I called the GI and asked to have him seen again. I was not looking forward to this appointment. All the specialists we see are similar. “We will just wait and see how he progresses.” “Let’s see what this over-the-counter medicine will do.” “How about we monitor this for another 6 months?” I want to pull my hair out! I know that this is not what a normal little boy should be doing at this age, and I wanted something done now. I was short of just bringing him to Cook’s and asking for a full body MRI, when my GI answered my millions of prayers. She listened to my concerns, and here is what happened:
Alex had a blood test that tested for anemia, jaundice, Celiac Disease, and some vitamin deficiencies. All NORMAL!

Two weeks ago, Alex had a rectal biopsy to test for Hirschprung’s Disease, an MRI of his lower back, and a brain MRI (that I scheduled with his neurologist to test for abnormalities in the brain – including CP and an under-developed cerebellum). I was told from the neurologist that if he had to be under anesthetics for anything within the year, that they would tack on the brain MRI so that he wouldn’t have to be put under too many times. These tests would take a few days to a week to come back. I was very nervous, like puke if I thought about it too much, nervous!

While we waited for the testing, Alex got a very big gland on the left side of his throat near his ear. He gets this same swollen glad about once every month and a half. It is accompanied with a fever and usually nothing else. So I went to my regular doctor. Still waiting to hear about the MRI results. He started to think and threw out a new idea. He thinks that Alex has a branchial cleft cyst. In a nut shell, when you are developing in the womb your ear stems sort of roll out to form your throat and other things around there (technically speaking :). Sometimes those do not roll out right, and it leaves a cyst in its path. He thinks that Alex might have this. So we are off to our ENT (great guy…yet one of the “wait and see” doctors) on Friday (tomorrow). If this is in fact what Alex has, he will just have to have a throat splitting procedure to have it removed. I am curious to see if it has any effect on all the other stuff going on…guess I have to ask that question. Cross your fingers we don’t have to “see how the next few months go” to figure it out.

Back to the MRI results! Finally after a few days, I was told the results of these tests. The rectal biopsy is NORMAL! Thank God he doesn’t have Hirschprung’s. Read about it online. The surgery and after surgery process doesn’t seem fun!
MRI of the brain is NORMAL (my scariest one). He does have a swollen or bigger portion in one part of his brain. I was told that it was not pushing on anything or interfering with anything so they consider it normal.

MRI of the lower back…not so normal. Alex has signs of a tethered spinal cord. What does this mean? Hell if I know! If you research it a bit, a tethered spine is usually a symptom of something bigger. It could be anything from cysts or a tumor to an actual disease of your choosing. Think back to the cyst on his throat/ear…could there be a connection? I will be asking that question! So even though I know that he has this, we are still in the dark to what it really means. I do know that it can be painful to walk and move around which explains why Alex seems to have such an incredible high pain tolerance (I mean not even flinching when he gets his shots). If he has only known pain, I guess it seems like a normal way of life.
So what is being done? The test results went to Alex’s neurologist because the spinal cord went outside of my GI’s realm and into neurology. Alex’s neurologist referred us to an amazing (or so they say) neurosurgeon within his department at Cook’s. He specializes in the spine and they feel that he is really the best one to help us from this point. His name is Doctor Roberts…anyone know of him? Unfortunately, we have to wait until Sept. 8th to see him. At least it is better than my initial appointment with the neurologist. It took 7 months to get an appointment (seriously). He will go over the MRI of both the head and spine, and probably do his own testing as well. Surgery seems to be the one way to fix the problem if it needs to be fixed. Again, we really don’t know what the problem is. Ahhh, the wait for answers! Good thing we are patient people. Alex’s neurologist said that it is not going to change anything, and it does not pose an immediate emergency to wait until the 8th of September. So we wait!

Then this week, Alex had a barium rectal enema. Don’t you all wish you had one of those? They were trying to see if there were portions of his lower GI that were messed up, for lack of better words. This too came back normal. Yeah! So many tests…I love it!

In the mean time, we are going to the ENT for the branchial cleft cyst tomorrow. Interested to see how this one goes. We wait until September 8thfor Cook’s, and I also submitted an application with doctor referral to Scottish Rite Hospital. My grandfather and mother’s cousin are Mason in Michigan. Random coincidence, they are meeting with the Master Mason of Detroit AND the Master Mason of Dallas today (Thursday). They are going to help us recommend Alex to the Scottish Rite Hospital along with my doctor recommendation. We are going to this hospital as well, if we get accepted, to get a second opinion and to decide which doctor we want to take care of Alex. Options are good!

So, we are really in the same boat as a few months ago trying to assume what is wrong with Alex, but at least we know a part of the puzzle. I really think that all these things that seem to be so different in him all stem from the same or similar problem. We just have to connect our dots!

Most importantly, Alex is too young to remember this! He has never plateaud, yet always seems to push through and beyond his barriers. They say if he stops progressing, then we have a problem. This has yet to happen, and I know it will not happen. So far the doctors have been optimist that Alex will be just fine after all is said and done. Speech is going to be a tough one to work through, but this too will catch on in time. It won’t magically happen one day like I thought it might, it is a long road ahead that we are very dedicated to pave. One thing that sets Alex apart from so many others like him is his internal drive. He does not stop. He works and works day in and day out. He tries out new things and explores more than most so that he can learn the way that his body will allow him to learn. He might not come to you or seek out your attention. He may not hug you or play with you as Elle might, but he is not doing this because he doesn’t want to. He is trying, but his body is keeping him from carrying through with the task. He wants to be with you and get that attention, but he can’t. He wiggles out of your arms or leaves you because he needs to feel secure and that usually involves him standing up to a table or chair so that he can regain his own security and control.

I think we are on to something and with the help of the neurosurgeon, we might find a light at the end of the tunnel a bit sooner than we thought. We can only hope and continue to pray for him. He will truly be great. I believe it with all my heart that his trial and tribulations this early on in life can only lead to greatness. He has gone through 3 surgeries, numerous procedures, and a ridiculous amount of therapy all with a smile and laugh. He has gone through more in the past 2 years than one might go through their entire life. We still have a long road ahead. If he can get through all of this, there is nothing that can keep him from doing great things. I feel God in my heart and soul, and I know that he is answering our prayers. You just have to look at Alex to know that He is right there with him each step of the way.