I am not a unique, wonderful person who God gave me a child with disability because I was somehow special. No, genetics did not play in our favor. It happens. You just don’t think that it could happen to you.
I have three children. After, my first child I had my next child five years later. While I was pregnant with him, I went through all the steps that you do when you are pregnant. From glucose tests to sonograms. I had gestational diabetes with my first son, which is diabetes when you are pregnant.
Since I had this, the doctors had concerns about this pregnancy, so they considered me high-risk. Therefore, I had many glucose tests. To make sure I and my baby were okay. Everything was okay. Then there were the different sonograms that you take while pregnant.
I had many of these and I remember one sticking out that I could remember. At the sonogram the lady doing it says to me, “this doesn’t look normal”. I asked her, “what do you mean?”. Her answer being that I could ask my doctor for more information.
So, two weeks later, I got a very vague answer. The doctor stated that my baby’s feet looked small in the sonogram, but he was not worried about it. So, that was that. The pregnancy continued to fly by until the last week that I was pregnant. I had my first child at 38 weeks. Therefore, maybe this one will come then too at 38 weeks. I was right.
I started having cramps and went to the hospital. There, they hooked me up to monitors and were monitoring the baby closely. It was a while after I arrived; they let me know the baby was in distress and I was experiencing pre-eclampsia. I knew it needed to be done, and I prayed my baby would be okay. So, they prepped me for surgery, and I had a c-section. Everything was fine until I delivered the baby. They immediately told me he had made his first poop inside me, and it wasn’t a big deal. They simply cleaned him off, and he was ready.
So, my baby was, I guess, not like a normal baby would be after birth. After I brought him home, I noticed little things in the months following. For instance, every time he would drink milk, he would throw it up. Not just little baby spit up. No, this was a crazy amount. Thought my baby was like the exorcist or something. It was that bad. Tried so many formulas and still he would do the same, and he was barely gaining any milk. The only milk he would tolerate was Pedisure, and man that is expensive. If you have ever bought that, then you understand the struggle was real.
Being as this was the only thing; he would drink we stock up on this. We would buy many and we were also giving some through our local WIC office. (WIC is a great program for woman and children that need nutrients that have trouble getting them.) Boy, did we need that. One pack of those things is $10 each.
My child was gaining weight. However, still not that much. Therefore, the doctor suggested for me to add cereal to the milk. Okay, we did that.
Other signs that I noticed that something was wrong with my child was he didn’t start crawling until he was nine months. He didn’t start babbling until after his baby sister I had then started. That was about age 16 months for him. Took him to many doctors regarding this and no one told me anything. Just told me to monitor him. The days and months went on. Finally, I said enough is enough. I need a neurologist.
So, after researching and practically begging the pediatrician to give me a referral, we got an appointment for a neurologist. As the day came to see this specialist, we were happy to have an answer about what was going on. So, my son went through the physical with the specialist. We spent about two hours in the office. I know very long time in a doctor’s office room. That wasn’t including the wait time in the waiting room. No, that was when we finally got inside.
He told us that our son had high functioning autism. We had never heard of that before and no idea what it was. So, the doctor explained it all to us and the symptoms to look for, and things we can do to help.
After that, I researched more and got my son all the therapies that he needed. Still, we figured something else was going on and we couldn’t figure it out. The occupational therapist told us to go back to the neurologist and find out more. She stated, “your son is showing signs of cerebral palsy”. This puzzled us. Never heard of that phrase either. So, again, we went back. Mind you, this was about four years later.
At the appointment again, the doctor did his normal physical. We were still seeing the specialist, but only for the autism. However, that day I went back with more questions he told us something new. However, he asked me first if anything had happened at birth with my son. I stated to him, no, not really. I told him I had preeclampsia and had to deliver right away. Nothing significant happened. Nothing else was wrong with my baby. He then told us that our son did, in fact, have this cerebral palsy. He described things that could have happened at birth that would have caused this. All of what he described didn’t happen at all. My son had Spastic Diplegia Cerebral Palsy. So, it puzzled even the doctor on how this could have happened. What we did not know was that the doctor was wrong about the cerebral palsy diagnosis.
Again, I researched the heck out of my computer. I am active on social media and asked my mom groups on Facebook if they knew something and explained the events that happened the day of the birth. Completely shocked at some responses. There was one response that, of course, I concerned about. Being as my son had made his first poop inside me, (meconium), the nurse and doctors did not accurately suction his nose in time. Mind you, I told the neurologist about this, and he said nothing. I researched this and this is accurate. I began thinking that these doctors and nurses caused my son’s cerebral palsy. However, that was not the case. Why? Because the neurologist had diagnosed him wrong.
A couple of years went by, and Christopher was getting the therapies he needed, but still something felt off. Therefore, I tried more doctors. This time, my husband and I packed up our family and moved across the country. We tried the doctors when we moved. When we arrived here, the first thing I did was find a primary doctor. I could describe what was going on with Christopher. She then sent him to a neurologist. We waited a couple of months to see one. However, with everything we know now, it was well worth the wait.
When we finally saw the neurologist, he examined Christopher and asks loads of questions. He noted to us that Christopher showed none of the signs of cerebral palsy except for Christopher having leg and knee pain. He even went as far and said he does not think Christopher even has autism. He wanted us to see a geneticist. He wanted gene testing done to see what the underlying problem was. He wanted to know if there was something in the DNA of my husband and me that had caused some of Christopher’s problems.
So, yet again, we made an appointment with yet another doctor. After some red tape with the clinics where we used to live, given permission to get records, we saw the geneticist three months later. This doctor the same examines and questions, however, he decided it was time to go ahead with the genetic testing. My kids, like any other kids, are afraid of needles. Therefore, a swab of genetic testing in the mail is what we received.
When it arrived, there were three tests. One for Christopher, one for my husband, and one for myself. I took all the tests kits and swab all three of us. Same day I took it to FEDEX. The results were available the next month. Being the anxious person, I was eager to find out the results. Therefore, when we received the call, the tests were ready. I jumped on the first appointment available.
We saw the geneticist the same week. This time, a genetic counselor was also in the room with us. The doctor eased us into it, asking questions if we had different things in our family. Well, when he finally got to the test results. They were shocking.
He told us that Christopher has a mutated gene, CACNA1A. He inherited the gene from my husband, Christopher’s father. Which my husband did not know that he even had this gene. When my husband was a child, his mother was told by doctors that he had cerebral palsy. This gene does not cause cerebral palsy. This gene causes forms of autism, developmental delays, intellectual delays, headaches, migraines, seizures, ataxia type 2, and a host of other elements.
We know now that Christopher has developmental delays, intellectual delays, mild autism, leg, and knee pain. The horrible part of the whole thing is my daughter, Christopher’s sister, may have the gene as well. Right now, she has widespread leg and knee pain that causes her to fall, scream out in pain, and cannot walk for a few minutes to hours at a time. That is called, Ataxia. Geneticist is still testing her DNA. The results will be available within the next month.
My hope for sharing this is to let you know never give up. You know your child. You know if there is something wrong with them. I had to fight through all these doctors that told me one thing after another to get an accurate diagnosis.
Don’t give up. Your child, your family, your peace of mind deserves answers.