When we brought Case home, we were incredibly thankful.
He seemed healthy and completely recovered from the breathing problem he had at birth. Of course, I consistently asked his pediatrician and other doctors later whether PPHN would cause any lasting complications or whether he was expected to be healthy. All healthy, they assured me. No lasting problems.
But there were always these little things.
He would scream bloody murder in the car seat. Nonstop. Someone would have to continuously and strongly rock/shake the seat to get him to stop (and when I was driving and doing that at the same time … well, let’s just say it wasn’t very safe. But, driving with a child screaming like a banshee in your ear isn’t safe either). It was like that for the first couple of months. Needless to say, I tried not to go ANYWHERE without another adult to shake the seat. I was even known to utilize the 3 year old son, unbuckled, to shake the seat so we could get somewhere.
Case had a lot of trouble eating. He would eat and then stop to breathe. He couldn’t seem to do them at the same time. He would also projectile vomit like you wouldn’t imagine. Exorcist the movie in our own house. And he would choke a lot when he could get the food down.
And he would stop breathing. Yes, stop breathing. It was like something would close in his throat and we would actually shake him a bit and yell “Breathe! Breathe!” And, he would. But it would happen day after day. It was significant enough that we actually only went to the YMCA where friends of ours worked in the nursery and knew how to handle him. It would have freaked out anyone else.
And when he wasn’t stopping breathing, his breathing was just incredibly loud. One MPS parent has described it as Darth Vader breathing. Imagine the in and out breathing through the mask. Yeah, that about describes it. We always said that if you couldn’t hear Case breathing on the baby monitor, then that was when you had a problem. I would run up to check if he was still breathing. Didn’t happen very often, because we were living with Darth Vader, you see.
So, the pediatrician sent him for a swallow study when he was 3 months old. Normal.
So things went along as planned. The little things just accumulated.
As he grew, we noticed that his chest was sunken in. Pectus excavatum, it’s called. So I researched that, and found that he could possibly have to have surgery later in life if it posed a problem, but otherwise, not an uncommon problem.
At his nine month well visit, the pediatrician noticed that his head was very large. I remember her asking, “Does anyone in your family have a large head?” I asked if she had seen my oldest son (whom she had cared for since his birth) and my husband…. Yes, they both have beautiful, round, and robust skulls.
But, she was still careful and sent Case for a head ultrasound. Normal.
We noticed around that time that Case always seemed to have an ear infection. We’d go for a well visit. Ear infection. Antibiotics. We’d go for a sick visit. Ear infection. Antibiotics. Antibiotics. Antibiotics. Rinse and repeat.
So at some point, the pediatrician sent Case to an ENT to check out both his ears, his choking issues, and his breathing issues as well. He diagnosed Case with larygomalacia, which is a floppy larynx – a larynx that would close and this cut off his breathing. But an issue which usually resolves by the time the child is two years old. That is, if the child didn’t happen to have MPS that caused it.
As far as the ear infections, that ENT sent us to another ENT. That ENT sent us to Audiology. And also to a sleep study. Then back to the second ENT.
That process took about 7 months. Case finally had surgery to place tubes in his ears and remove his enlarged adenoids almost 12 months after the process started.
By this time, several other “little” things also existed. Case constantly had a runny nose. If you look at his pictures from 1-2 years old, he most likely is holding a tissue in his hand. We taught him to wipe his nose early. And of course, we had to explain to the daycare, church, YMCA, and whomever else that he wasn’t sick, didn’t have a cold, but his nose was just always running.
He also started to have this “look.” We just called it the Case look. His tongue would hang at the front of his mouth, he’d be drooling (with a wet shirt or bib always on), and he’d have this blank look on his face. We called it his look and we’d even laugh and do the look. It was just part of his cuteness.
Another part was the big belly that he had. Big, round belly. We’d get him to lift his shirt and show us his belly! It was adorable. What is difficult to realize in retrospect is that the big belly was an enlarged liver and spleen that just kept growing. Not so funny when you know that.
He also started falling more and having trouble with the stairs. It wasn’t so sudden or serious that you realized it was a problem until you look at it in the rear-view mirror. He needed someone with him to make sure he didn’t fall all the time. His balance was off. He just required more help than other kids. But, you always hear and remind yourself, kids develop at different rates.
Oh, and the diarrhea. That really got going at around 17 months. Now, Case never really had normal stools; they were never formed like other kids have and they were often very odd colors. Gross, I know. But if you only knew how much poop was discussed by MPS parents, your jaw would drop. Explosive diarrhea – it is often termed by us parents. Indeed. Case would be standing in a room then all of a sudden whoosh!! You get the idea.
Case’s development also slowed down between 18-24 months. He had less than 10 words and they weren’t fully formed. “Ma,” “Da,” all (for “ball”), or (for “door”), a few more. But the list didn’t really get any longer and he couldn’t put two words together like “mama go” or “me play” like a typical child could. But again, it wasn’t such a sudden problem or so significant that a lightbulb went off to signal a problem.
Looking back, it is easy to see the accumulation of symptoms of MPS. But time is slow and the mind is forgiving. And you love your child. And you believe the notion that all children develop at different rates. And, our life was busy. Three boys within three years of each other (and not planned that way, at least by me, but it was by God) and we were still getting used to this life.
But don’t mistake the fact that everything mentioned here is a symptom of MPS. As minor as they seem, they were all caused by the accumulation of glycosaminoglycans (or GAGs) in all of the cells of Case’s body.
There was actually a point where I googled Case’s major symptoms (or at least, several of the big medical terms that applied to him – persistent pulmonary hypertension of a newborn, pectus excavatum, laryngolmalacia, and choking – to see if there was something out there that we were missing. I think my mom, a registered nurse, had wondered at one time whether there was a syndrome or something that might be causing all these little things. But nothing came up.
Well, God decided to do a little more pushing and give us a miracle (with many more to come, but that is a later post). He sat my mom down one night to watch Discovery Health channel and on came Mystery Diagnosis. It had a story about a little boy who seemed to have a lot of the same problems that Case had. Little things, but which added up to a big thing. In the end, he was diagnosed with something called Hunter Syndrome. Can you believe it?
My mom got to the end of the show and cried, realizing that Case may very well have this terrible disease with no cure. A disease which would take his life most likely before he was into this teens.
Not wanting to believe it, she watched and waited. She listened and experienced firsthand the aforementioned explosive diarrhea. It was that and the developmental delay that sealed the deal for her to tell me about MPS. It was after a great vacation with her and the kids in Gatlinburg, Tennessee, and on that last day, we were talking about what might be causing Case’s bowel issues – food allergies or some other possibilities, when she mentioned that I should look at something called Hunter Syndrome.
I wrote it down and forgot about it for several days while I visited friends. When I returned home, I pulled the slip of paper out of my pocket and did what I always do for information, I googled it. One website led to another to another.
I knew it within a hour that my son had a terrible, terrible disease. I knew on April 6, 2009.
It is something that you just know. When the list of symptoms becomes twelve, thirteen, fourteen … seventeen, you know that it is not coincidence.
And the pictures. The pictures.
These boys have a look. It is chubby cheeks, red and full lips, broad forehead and bridge of the nose, thick, curled and stubby fingers, big belly, no neck, I could go on. Frankly, I think the look is adorable. It describes many of the things that I think are so cute about Case and hope he never loses.
But it is the look that sealed it. I raged. I cried. I banged the floor. I screamed..
Then I calmed and called a friend. A dear friend in the Lord and asked her advice. Do I call my husband at work and tell him that I think our child has a terrible disease? She was wise and questioned whether I really thought he did. I did. And I should call my husband.
Those next few days were a blur. We also noticed another hallmark of MPS – Case could not extend his joints. His arms and knees wouldn’t straighten and he couldn’t lift his arms above his head.
We went to the pediatrician for Case’s 2 year well visit. Should be a great time. At the end of all the necessary things, I told her I thought he had Hunter Syndrome. I handed her the list of 17 symptoms. She read the list, checked his joints, and immediately referred us to genetics at Vanderbilt.
God was working even in the little things. Vanderbilt scheduled us for an appointment a month later. I posted in an online forum of MPS families about having to wait and another family connected through their doctor to a Vanderbilt doctor who had someone call and get us in the next week.
Thus started the roller coaster of the last two years. It is a great ride. It has changed my life. And it has changed it entirely for the better. Entirely for the glory of God.
If you’ve made it this far, thank you. I am chronicling mostly for me, but appreciate any comments or thoughts you have.
Last modified: December 31, 2017