No recipe posting today. Still cooking and writing but life has been a bit too busy to chat about food over the past several months. Instead, I’m going to get super personal. Instead, I am going to share with you some glimpses into the medical rollercoaster that my family has been riding now for the past 5 and a half years.
Back in 2011 I was plump pregnant and happy about to give birth to our third child. I had a totally normal pregnancy, no complications and all tests, ultrasounds showed that we were to expect a healthy baby boy. But, upon giving birth, I knew instantly that something was not right with my baby. Having had two babies previously, I could tell that little Baxter was not “normal”. The first thing that I said when they held him up was “Is he breathing?”. He seemed very weak and quiet. He was the cutest baby I’ve ever seen, but something just didn’t seem right. The doctor and nurses assured me that he was fine and then took him away for HOURS. When I finally got him back, no one said anything. My husband had gone by the nursery to check on him and had said that he was unresponsive to all of the usual tests that they conduct for newborns. When the pediatrician came into my room to look him over I saw that he had almost no muscle tone and very poor reflexes. Still no one could tell me what was wrong AT ALL. When the nurses changed shifts, I could hear them whispering outside my door, I’m sure it was some kind of warning about how fragile my baby was and that no one knew what exactly was wrong (I felt like shouting “Hey! You can come in here and speak!”). I had this overwhelming sense of protection over him: to me nothing was “wrong” with my baby. When the nurses would ask how he was doing or if he was feeding okay, I would act like he was perfect. I can remember a couple of my husbands co-workers came in to visit me and see the baby. I kept him swaddled and held close, hardly letting them see him for fear that they might notice something “different” about him.
We left the hospital as if we had had a perfectly healthy baby. I came home with a perfect child that may or may not be deaf having not passed any of the three hearing tests that they tried in the hospital. My child was labeled “floppy” having extremely low muscle tone and reflexes and was already lined up to see genetics and orthopedic specialists due to the fact that his joints were hyper flexible. It was horrible. At a time when you should be celebrating a new baby and enjoying this precious new life, all I could do was worry. No one thinks when they are pregnant that this is going to happen. We look forward to our babies arrival with joyful expectancy, awaiting smiles and laughter. There is no preparation for this kind of worry, this kind of emotion. There were no birth announcements, no “it’s a boy!” celebrations. I was way to busy with doctor’s appointments, lab tests and x-rays.
Ah, x-rays. When Baxter was 8 weeks old his pediatrician noticed that when you lifted his legs he cried like he was in pain. Yes, I had noticed this as well at every diaper change. This baby cried a lot! If I was not holding him and comforting him, he cried. Our doctor went ahead and ordered a set of full body x-rays to be done and then said something to me about the color of his eyes. She was all of a sudden very concerned that the whites of his eyes were a bluish color. I immediately took him in for the x-rays and to my surprise I received a phone call from our doctor only a couple of hours later. She was calling me from her home, I could hear her daughter and television in the background, and I didn’t take this as a good sign. She informed me that the x-rays showed that Baxter had bilateral broken femurs, a broken collar bone and 3 or 4 broken ribs. I felt my heart stop a little and had to sit down. I needed answers right away! She told me that all of the fractures seemed to have happened at birth and were healing well. Next, I was sent back to genetics. I finally had some sort of answer. My baby was broken. This explained why at birth he had no muscle tone, why he seemed unresponsive, why he was hyper flexible, and why he cried all the time. He was broken and in pain. Finally, something made sense. Genetics ultimately told us that due to the fact that Baxter had several broken bones at birth and blue sclera (the whites of his eyes) that he had a rare disease called Osteogenesis Imperfecta.
This was rough. Osteogenesis Imperfecta or OI (aka brittle bone disease) was something that I had never heard of. So of course, I go home and Google it and learn all about how detrimental it can be and try to prepare myself to raise a child with this condition. There are several types of OI, and the next step was to determine which type Baxter had so that we would be better prepared. We had two different genetic tests performed over the course of the next couple of years and each was inconclusive. We met with OI specialists to try to determine a type. We finally were told that he had a type that was mild and unknown since his testing didn’t match with any of the known types. By this point we were very well aware that his type was mild. I had joined a Facebook parent support group and even gone to an annual meeting to meet some of the wonderful folks whom I had meet online. Parents raising children with OI are some of the strongest, most amazing people on earth, and their kids are truly super heroes!
As time has past and we have watched Baxter grow we have found that he truly is different. He has had several medical scares and a couple of miracles along the way, but none so great as recently. At Baxter’s 4 year check up they did a routine eye exam. I sat next to him and saw the nurse hold up pictures for him to identify: a car, a tree, a house, ect. I was shocked that he was straining to see them and even getting them wrong. A week or so later we had an appointment to follow up with ophthalmology. When the doctor came into see him, she looked at his eyes and immediately ordered several test to be done. Right then, she even called another office in the building to see if a specialist could come and see him right now. I was not startled by this in the very least. By this point, I almost expect tons of tests and more referrals with this kiddo. After everything was finished, she informed me that Baxter had a very severe case of Keratoconus. An eye disease in which the astigmatism is so severe that the cornea thins and becomes very brittle leading to low vision. Okay, I thought, so my kid is fragile, I know this. I took him to get glasses and made sure to get the safest most protective ones they had. When we went to pick up the prescription, the lady looked at how strong the prescription was, then down at my little Bax and then to me. She looked as though she was going to get emotional. She very dramatically placed the glasses on Baxter and then told him to look at his mommy. I then realized that this might have been the first time that he had ever seen me clearly in his whole life. It was emotional. I totally cried telling friends about it a few days later, such a precious moment.
So here I was with another strange and rare diagnosis. I reached out to the OI parents, like I did with other medical incidentals that we had dealt with such as a huge arachnoid cyst in his brain, strange bone growths and a seizure. No other OI parents ever had any of the issues with their children that we had with Bax. Again, with the eyes, no one with OI had Keratoconus. I have always felt like with each new “symptom” or “characteristic” that Baxter has shown that maybe we are getting closer to finding a similarity with someone else. Maybe he was not the only one in the world with this type of “unknown” OI.
Worst day of my entire life: A couple of months after having glasses, they got broken (typical 4 year old little boy with glasses!). I picked Baxter up from preschool and took him to the eye glass store to get a new pair. I felt like maybe be needed a pair that stayed on better. The ones that he had wrapped around the back of his ears. They still slipped down his nose a lot, so I made a band to fit them to his head just right. I thought we could find a pair that had a band already or something that wouldn’t slip down on his nose to begin with. Taking him with me was a bad idea. Baxter has been known for throwing crazy fits sometimes. His neurologist has said that it may or may not have to do with the cyst in his brain (thanks so much for that clarity). Baxter had his mind set on a pair of glasses that were way to big for him and proceeded to throw a fit. I, being used to his outbursts, knew it was time to go. I quickly picked Baxter up, handed the dude working there a pair of glasses that would be fine, told him I’d be back later to pick them up (without Baxter!) and headed toward the door. Baxter started acting out like he had never behaved before. He was screaming, hitting, kicking and even biting me. I had to almost wrestle him to get him buckled in his car seat. He was sweating and screaming and kicking still. As I got into the car and started to drive away he threw his broken glasses at me, was trying to unbuckle himself and thrashing around wildly. I reached behind my seat to maybe grab a leg, a foot, something, as I was pleading with him to calm down. When I reached back for that split second, all I felt was his hair and forehead and then the screaming changed. I had poked him in the eye. He cried all the way home telling me that I had poked him in the eye. I brought him in the house and actually placed him in “time out” for his behavior at the store and in the car. He calmed down after awhile, put his little broken glasses back on and just seemed extremely tired. He said he would be a good boy and he was sorry for the way he acted. He feel asleep not too long after and slept all night. I thought it was strange for him to fall asleep so early but figured he had really tired himself out with the fit he had thrown. I was concerned about his eye and researched scratched corneas just to see, if it was a worst case scenario, what to look for in his eye when he woke up.
The next morning I was awoken to Baxter crawling into my bedroom. He could not open his eyes. I tried not to panic. I helped him get into bed with me and asked him what it felt like, if he could open his other eye. He didn’t seem like he was in pain, it just seemed like his eye was extremely irritated. I finally got him to open both eyes, have some breakfast and then we were off to immediate care. He seemed fine in the waiting room playing a game on my phone and chatting like usual. When it was time for the doctor to see him, he did not want to cooperate (nothing unusual for him!). I explained how I accidentally poked him in the eye, and I think that maybe I scratched his eye or something. My husband being a doctor himself asked if he could just prescribe him an antibiotic if the scratch looked infected or something. My husband had to hold him down while the doctor pried his eye open to take a quick look. The doctor and my husband said they had never seen anything like it and that we needed to go to the emergency room right away.
After what seemed like forever in the hospital they finally told us that his eye had burst. What? How does an eye burst? That sounds like a balloon!! An eye can’t burst! They were prepping the operating room for an emergency surgery. How could this have happened?! Everyone gets poked in the eye! Baxter had been poked in the eye before! How did I, me, his own mother, the person who loves him, cares for him and protects him above all people, cause his eye to burst.
After surgery, the surgeon came in and told us that it was extremely difficult. He had sewed his eye together the best that he could, but that he would most certainly need further surgeries in the near future and that still there were lots of risks for him including the possibility of losing his eye entirely. Two days later, the stitches started to rip through in his eye. We were back for surgery number two. This time he had a full cornea transplant. His cornea was too damaged to save. This time, it was a different surgeon, a cornea specialist. He came out before the surgery and told us that it was going to be extremely difficult. He told us that because Baxter’s corneas had become so thin that it was going to be “like sewing a piece of very fine lace to a piece of cheese”. He told us that he would try his best to just save the eye, not to expect any results with vision, and that he might have to remove the eye all together because it was so bad. Cheese!!!! Yes, thats what he said. So for the next few hours all I could think about was sewing cheese to anything and what a joke that would be! Cheese can’t hold anything!!
We prayed a lot as we waited and in the end the surgeon was able to successfully perform the transplant. I now had the responsibility to place eye drops in Baxter’s eye every 3 hours to try to prevent infection and or rejection of the graft. No pressure… Sweet little Baxter was worn out and terrified. His eye was swollen beyond belief, and I had to put drops in it. All day. This was hell. For him and me. I had some help from my husband when he was not at work (he would even take a break somedays just to come help with the drops), from my best friend, and my sweet neighbor who happens to be pediatric nurse. It was hard. I eventually got the hang of it to do it on my own. Sneak the drops in my hand (so he didn’t see it coming and run), gently tackle him to the ground/sofa/bed, hold him down (sit on him) to prevent him from hitting/kicking me and then with his face screaming and his head turning from side to side, ever so gently remove the bandage, pry the swollen lid open and place one drop, then screw on that cap, open second drop, screw on that cap, then open next drop, then re bandage his eye. Did I mention this was hell? All day,every 3-4 hours. I did it. Never missed a dose.
The medication slowly tapered off until we just had one drop each day, which I managed to get in his eye at night after he had fallen asleep. The graft was still rejected. He is completely blind in his right eye.
During all of this eye trauma I was pregnant. We found out we were expecting our fourth child about a month before Baxter got his first pair of glasses. Now that the due date was getting closer, I meet with a genetic counselor to discuss the risks of this baby having OI. I was not worried at all. The chances were low and since Baxter has such a mild form, it really didn’t concern me. My other children are fine, this baby was going to be fine. I just knew it.
So the day comes. I wake up in the middle of the night having contractions. My husband and I sneak out of the house to go to the hospital before any of the kids wake up. (My oldest child is 14 and very responsible, great babysitter!) Later that morning while I was in labor, I called my mother to go by our house and check on the kids. I called her again about an hour before I gave birth, just to see how everyone was doing. Everyone at home was fine and super excited about the arrival of a new baby sister! When Apollonia was born I was shocked at how much hair she had and how big she was! She was beautiful! My husband and I were both observing her very closely to see if she showed any signs similar to Baxter at birth. She didn’t, we were relieved. A couple of hours later my mother brought the kids up to the hospital to visit me and see the baby. As soon as Baxter walked into the room I could tell something was wrong.
I have become extremely alert to this little guy. If anything is not right, I can tell right away. I had him come sit with me and noticed something was wrong with his eye. Not his blind eye, his only seeing eye. I asked if everything was okay and he told me that while they were at home his older sister had kicked him. My mother said that they had been rough housing (not unusual for those two) and that my daughter had accidentally kicked him in the eye. He had his glasses on and they thought it was okay. It was not okay. I could tell from seeing his other eye with trauma before, that this was NOT okay. My husband went from holding my hand in the delivery room to rushing our 5 year old to the children’s hospital for emergency surgery on his only seeing eye.
I was a mess. Total mess. Hours later, I get a call that they were able to save his eye but not his vision. I was A MESS! The nurses came and took my baby away to the nursery because I couldn’t stop sobbing. Couldn’t stop. My sweet boy was now blind. The same day that we should be celebrating the joyous birth of my new daughter, I was mourning the loss of vision for my son. I felt more heartbroken than you could have EVER imagined and to make it worse, I was in the hospital. I was not there with him, to see him, to comfort him, or to tell him it was okay. All I could do to relieve any of the heartache was hold my new baby girl. She must have been born at this time to give us joy through this hardship.
The next morning the pediatrician came in and sat down on the little sofa in the hospital room with me. I knew this was not a good sign. I know by now when a doctor is bracing herself to hit me with something. Bring it, I thought. She tells me that my baby has hip dysplasia and that her muscle tone is a little low. Also, they are concerned that her sclera is mildly blue. They were going to take her to the NICU to keep a close eye on her and have full body x-rays and genetic testing completed to see if she had OI like her older brother. I was completely calm and unmoved by her telling me all of this. By this point I was numb. I told her that Baxter never had any genetic tests proving that he had OI. I also mentioned that on a recent doctor’s note from one doctor to another that my husband and I had noticed that his surgeon said that he thought that he had Brittle Cornea Syndrome. This was something we had never heard of. The pediatrician came back later in the day and said that she had been doing some research on this Brittle Cornea Syndrome which can present with low muscle tone, cause fractures, blue sclera, hyper flexible joints and hip dysplasia. Wow! The pediatrician was quite excited that perhaps she had just solved a mystery for us. My son never had OI but all along something that we had never heard of: Brittle Cornea Syndrome. Apollonia’s x-rays showed that all of her bones were fine, no fractures. Now, we just had to wait 10 weeks to have the results of a genetic panel that would show if she had OI, Brittle Cornea or several other possible disorders. I wasn’t worried about her at all. As far as I was concerned, she was perfectly healthy and fine. It was my son that I needed to get home to and care for.
They brought Baxter in to see me in the hospital the next day. I couldn’t wait to hold him and see how he was doing. I could hear him crying for me down the hall before I saw him. I knew I had to be strong and keep it together for him. It was hard, so hard that I can’t explain, but we acted like everything was okay. It was okay.
This time the doctor sewed up his eye and to keep the stitches from ripping out he placed a pericardial graft over the stitches. A piece of someones heart was in my son’s eye. He didn’t have to have drops as much after this surgery since there was no chance of graft rejection. My son was completely blind now, and it was just a matter of getting used to it. Now, all of us were at home my husband, two older kids, new baby, my blind son and I. Baxter was a completely different child. He didn’t want to play with any of his toys. What’s the fun if you can’t see them? He couldn’t “watch” TV anymore or play games on the computer, IPad, or phones. Nothing seemed fun anymore. He constantly put his head down, face first. No matter were he was sitting he would curl into a ball with his face down. We were constantly telling him to keep his head up. I think he just found comfort in having his head rest on something since he couldn’t see anything. It was still hard to witness, and he seemed depressed. He needed my help for everything. Everyone kept asking me how the baby was doing and I’d say she’s the easy one! Baxter was taking my attention every second of the day. If I went into a different room of the house, he would yell for me like he was scared until I came and sat with him again. He needed help eating, using the bathroom, getting around the house, everything. He did enjoy listening to music, so we played tons of music and got out all of our toy musical instruments for him to play with. We read books together. I got books that he liked on audio for him to sit and to listen to. I gathered everything from around the house that I thought he might want to hold, touch, make noise with, or explore with his hands.
Still everyday I cried. I’m glad he couldn’t see it. I cried every time I looked out the window and saw a beautiful sky that he would never see. I cried thinking about how he loved to go to the movies. I cried thinking about how difficult life will be for him now. I thought about everything. How will he ever be able to use a public restroom by himself! Will kids bully him as he grows up? How strange it will be to eat and try new foods without seeing them, or meet new people without seeing them. How, he is going to have to be dependent on other people for the rest of his life. I thought of things all the time that made me sad. I sat at our desk one day and looked down to see a brochure that he had picked up from a restaurant recently for the aquarium. We promised that we would go soon, and now he would never see the fish. I looked at our fridge that was covered in pictures that he had made at school and at his messy little handwriting just learning to write his name.
I had to stay positive. Thank God for my faith and the strength that I get from it. I knew that with God I could do this. I had to keep things as normal as I could and get him used to doing everything without my constant help. It was hard but we had to do it. I thought about how will he ever learn to cook? (of course!) It was something that he had had fun with in the past so I started having him help me cook things again. He loved it! He wanted to cook and help me bake all day, so we did a lot! He would crack the eggs on the counter, dump ingredients into a big bowl, hold a whisk and stir. All the smells, sounds, tastes and textures in the kitchen made him smile. It was kind of magical! I knew his head would be up if we were in the kitchen.
I had looked into a new school for Baxter over the summer called VIPS (Visually Impaired Preschool Services). I knew that since he was blind in one eye and had a strong prescription for his seeing eye at the time that he needed special attention with his visual needs. Now that he was completely blind I knew it was the best place for him. He had seen and met his new teacher a few weeks before school was to start and had seen his new school and class room, but now he would be starting blind. We went to an orientation several days before school with him now blind. I didn’t think I was going to be able to hold myself together.They asked the parents to gather in an area to hear information about the school year and said that the kids were welcome to play on the playground with staff. I took Baxter outside to the playground and a teacher approached him to let me go back inside, not realizing that he couldn’t see she said “Hey come play on the playground with me!” Baxter replied with “Um, I’m blind!” She came over and took his hand and said “Well! Thats good to know!” It was totally normal here and that put my mind at ease. His teacher came to our house a couple of days before school started. It made him feel super comfortable with her and allowed me to ask all the questions that I had and prepare myself for letting him go to school again. Before she left he whispered in her ear that on the first day of school he wanted puppets to play with. “What kind?” she asked. He told her he wanted a knight, princess and dragon. He really liked her!
On the first day of school Baxter was really excited, I had assured him that the other kids at his new school had “special eyes” just like him. It made him feel good to know he wasn’t alone, there were other kids like him. When we fist walked into the school I was blown away with how VERBALLY inviting everyone was. Everyone said good morning or welcome Baxter! And they all announced to him who they were. It was simple but made such a difference. Then upon walking into his classroom his teacher came over to him to say hello. He immediately asked her if she had the puppets they talked about! Her face lit up as she went and got the puppets for him. She put in his hands a knight, princess and dragon and to tell them apart since he couldn’t see them, one of his other teachers had taken them home and added long yarn hair to the princess and a tail to the dragon. This was amazing to me. I left and cried. What wonderful people!
The next Sunday as we were slowly getting used to things we went to church. We had not been in a few weeks since we had the baby and dealing with Baxter’s new impairment. We did have a huge outpouring of support from our church family, they gave us all the hugs,food and support that we could have ever hoped for. On this day after mass one of our priests came over and saw our new baby. He said that he wanted to bless our whole family, he raised his hands toward us and said some kind of blessing for health and happiness. It was sweet. But we didn’t really think much about it. We left and went on about our day as usual. Baxter had been asking to go to the movies. What fun would that be if you cant see anything? We agreed to take him. It was a bad choice. As soon as the movie started I could tell that he was extremely disappointed. I tried narrating the whole film to him, I’m sure I upset everyone sitting around us in the theatre. We left feeling deflated. One more thing that will be hard for him in life that we all take for granted.
When we got home we all gathered in the living room and sat down. Baxter sat in his usual spot to put his face down. When all of a sudden he raised his head and opened his eyes. He started to turn his head around as if he was seeing us. We all looked at him in amazement. “I can see!” he said almost in disbelief. “What?!” we all said! He slowly came over to me and got really close to my face, looked into my eyes and said he could see me. It was amazing. It was a miracle.
We called his doctor and told her the good news. She was shocked. He is only able to see out of a small area of his left eye. But I’ll take it! Believe it or not but this has only been a nut shell of what we have gone through. All together over the last 10 months Baxter has been in the hospital and under anesthesia for exams and surgeries thirteen times. The genetics testing that we had done on our new baby show that she has this extremely rare Brittle Cornea Syndrome just like we have found out that out son has. It is a progressive eye disease that there is no treatment for. It causes blindness and in half of the people that have this syndrome it also causes hearing disabilities. I have learned through all of this that no matter what you read or hear, take each day at a time and only deal with whats in front of you. I have two children now that without medical help will most certainly be blind. Most reported cases of this rare disease the patients lose not only their vision but their entire eyes around the age of 4. It is extremely rare. Doctors don’t even know about it and when you look it up there is not much to learn. They just developed the genetic test for it a few years ago. I have been given a second chance at sight with Baxter but I don’t know for how long. I thank God every day that he wakes up and has vision and I’ll continue to thank Him even if he doesn’t because we are a truly blessed family and I am so grateful for all the little things more than anyone would ever know. We have taken Baxter to the aquarium now and I make sure that he sees as much as he can everyday. My sweet baby girl will be getting glasses in the next few weeks already to protect her little eyes.
We, with the help of our doctors have been reaching out to other eye specialists around the country to try to find someone that can help us. So far no luck. No one will see them. Its too scary for any doctor because no one knows anything about this disease except for how horrible the outcome can be. We need help, we need awareness. I am sharing this small novel to open someones eyes. Maybe someone with special need’s children can relate or it might help a parent raising a blind child that they are not the only ones worried about a public restroom one day! My best friend said that we should be raising funds for research. I totally agree, we should! But currently as far as I know there is no research, no one to send funds to. What I can do now is share my story.