Mason Anthony Snow was born on Friday, March 11, 2011 at 7:59 am. He seemed to be a very normal boy weighing 7 pounds 13 ounces and measuring 21 inches in height. He scored an 8.9 on his Apgar. Shortly after his birth, he was not aggressively eating and not crying out when hungry. By Sunday, Mason had lost almost a pound because he was not eating and he became dehydrated. A specialist was called in. Without us knowing the severity of what could really be going on, as Mason was our first baby, he told us that he would need to be transferred to Phoenix Children’s Hospital Monday morning. We were told the best case scenario was that this was just something he would outgrow and the worst case was that his lungs would collapse and he would stop breathing. As brand new parents, this was terrifying as well as super devastating. Mason was taken to the level 2 neonatal intensive care unit, where he was monitored. A feeding tube was then inserted through his nose to ensure he was getting the calories he needed. At this point, the one thing we knew for sure was that he had hypotonia, which is also referred to as floppy baby syndrome. Mason could not lift his arms or legs by himself and was overall weak. He remained stable overnight and was transferred by ambulance to PCH.
Once we arrived at the PCH NICU, we were bombarded with a ton of specialists and doctors: a neurologist, a geneticist, a speech pathologist, a physical therapist, a pediatrician and a wonderful nurse. As we met with each specialist, they explained all the tests they wanted to do on Mason. They were almost convinced that he had either Spinal Muscular Atrophy, Prader-Willi Syndrome, or Muscular Dystrophy. All of which were not good. We would not know any of the results for 6 weeks.
The first day was certainly the worst seeing Mason go through so much testing, poking and prodding. As the days went on, we cared for Mason and he started to really gain strength. His vitals remained great the entire time and he was always able to breath on his own. We celebrated little victories every night when he would gain an ounce. He slowly relied less on the feeding tube and gained the endurance to eat his bottle within 30 minutes. By Thursday, Mason was eating all his food orally and his feeding tube was removed! His muscle tone was getting increasingly better and we began to talk about going home! This was like music to our ears. We could finally see a light at the end of tunnel to bring our baby boy home. Friday, Mason was seen by all his specialists and they all gave us the go ahead to be released on Saturday. His EEG was completely normal and Mason was up 7 ounces since he first arrived. He completed his car seat test and knowing we could go home in the morning, we all finally got some sleep. Saturday morning, March 19th, we were released from PCH! The joy of finally being able to bring Mason home was overwhelming. At this point, no matter what the outcome of his tests, we felt blessed to have been over the hurdle of the NICU and thankful that we could move on.
The next few weeks just continued to get better. Mason was improving and was doing well. He had a follow up appointment with speech for a feeding evaluation at PCH. We found out that Mason was sucking down his food too fast and was at risk for aspiration because breastmilk was too thin for him. He started on a food thickener called Simply Thick. It is the only gel-like substance that is tasteless and thickens milk. At first, he became constipated, but after a few days, his body became used to it. He was feeding much better.
We started to notice at around 5 weeks that Mason was not responding to objects in front of him, focusing on our faces, or reacting when we would go to get him from his crib. As his parents, we knew something might not be okay with his vision. We finally had his follow up appointment with his neurologist to find out his results. This day was another nerve racking moment. Hearing the words, “Everything came back negative,” were some of the best words we had ever heard. At this point, we didn’t care what the cause of all this madness was, we were just thankful that our boy didn’t have any of these syndromes.
As we were meeting with the neurologist, he seemed a little concerned with Mason’s vision as well. He checked his eyes with the light and Mason did not have a red reflux, indicating something might be blocking his vision. He suggested we take him to a pediatric ophthalmologist. Two weeks later, we took Mason in to the eye doctor. This is where he was diagnosed with cataracts in both eyes and would need to have them removed. We didn’t even know that babies could have cataracts. We as his parents were also so upset and baffled as to how he had seen so many doctors and that this was missed. We were referred to a different ophthalmologist who would perform Mason’s surgery and talk about testing for Lowe Syndrome starting surfacing. He would need to get a urine sample to check his amino acids. If they were high or abnormal, he would then need to have blood drawn to be tested for Lowe. Mason was scheduled to go under anesthesia and have his cataracts removed one at a time very quickly. The day before Mason’s first surgery, his eye doctor wanted to check the pressures in his eyes to rule out glaucoma. Sure enough, Mason’s pressures were sky high and he would now being getting two procedures, the cataract removal, and glaucoma surgery to release the pressure. We were scared and felt awful for all the things this poor child had to endure but knew that God would watch over him.
Mason had his first surgery on May 18th, 2011. Handing him over to the nurse who took him back to surgery was one of the worst moments as a parent. I can’t imagine how scary it must have been for this little boy. We were nervous and scared. All we had at that point was faith that God would protect him. His surgery lasted about an hour and a half. It was definitely the longest wait we have ever had to go through. When we saw the doctor come out of the ER doors and heard Mason did wonderful, we were so thankful. We spent the night with him in the hospital as he was being monitored. Mason recovered well and just as soon as he got back to himself, we were at it again for the other eye. May 26th, 2011, he went in for his left eye cataract and glaucoma surgery. Handing him over wasn’t any easier this time, but Mason did even better this surgery. Although he was given a larger amount of narcotics and was completely out for the rest of the night, he didn’t seem to be in as much pain. After the surgery, his contacts were placed in both eyes. Yes, our superhero wears contacts and we put them in and take them out just like anyone with contacts. It was an overwhelming feeling to know that our son was finally on the road to be able to see the world! He would need to have follow up appointments with his eye doctor and pressure checks under anesthesia every 6 weeks. Since Mason is so little and cannot stay still, he has to get his pressure checks under anesthesia every time. The worst part about that is the fasting he has to go through like anyone else going under anesthesia.
It seemed things the next month and a half calmed down a bit and we were able to finally enjoy Mason without being at a doctor’s office or in the hospital. We received news from his geneticist that his urine sample in fact came back abnormal, spilling amino acids and she ordered a blood draw to test for Lowe Syndrome. We attempted to take him to a lab where they drew blood. What a disaster! Not only did his blood have to be taken before nine in the morning, Mason is a really hard stick and they couldn’t find a vein. They suggested taking blood from his head. This was not an option and therefore, we had to wait even longer to get his blood drawn at PCH during his pressure check. Mason sure seemed to blossom with his vision. It wasn’t long before he was reaching for things and smiling at us.
It came time on June 23rd, to have Mason’s pressures checked to make sure his glaucoma surgery was successful and that his pressure were down. He was also getting his blood drawn for Lowe. It would be 4 weeks before we heard any results from the testing to confirm or deny his diagnosis. Mason’s pressures were good. They were in the high teens, which was down from his 30 and 40 pressures. At this point, Mason was also kind of staying stagnant with his weight, so his pediatrician suggested adding formula to breast milk to give him more calorie intake to try and bulk him up! Just like that, he became a chunka monka! Of course like anything, there is always a risk when using any product. Unfortunately, the thickener we used for his milk was recalled because of a possible bacteria contamination. The only other way to thicken his milk was to add rice cereal. That was the wrong idea! Mason profusely vomited two feedings in a row, poor thing. Thankfully, one plant that made Simply Thick was up to date on FDA regulations and did not have a recall, so we were able to locate a store that sold it and got back on track. We now have to mix Mason’s food concoction with a hand mixer.
The next 4 weeks, Mason was really showing so much improvement with his motor development and we really questioned if it was even possible for him to have Lowe. He was laughing out loud and really coming into his personality. He loved playing underneath a play mat with mobile toys, music and lights. Mason also really loves bath time. We were able to get a great video of him laughing and splashing in the tub! He found his hands and still plays with them obsessively! They are definitely his favorite things to play with!
We had to set up an appointment with Mason’s geneticist on August 1st, 2011 to discuss his test results. We had convinced ourselves that if we received a phone call from her before the appointment, she would have to be calling to give us news that he tested negative. There would be no way someone would call to give that kind of information over the phone. Sure enough, the phone rang on July 25th, and the words, “We received Mason’s test results, and he does in fact have a confirmed case of Lowe Syndrome. I am very sorry,” were what was spoken. Any parent receiving this news over the phone would have been utterly crushed, as were we. We took the day to cry and question why. It truly was one of those most difficult days for all of us as Mason felt our sadness as well. We felt helpless and lost for our little boy. We made tough decisions about our future and were very thankful to have supportive people who understood. Mom would resign from her teaching job to care for Mason full time as he would now be getting 4 different in home therapies. He had grown so much with mom’s help, going back to work was not an option.
The next morning we woke up with clarity and a completely different outlook. The saying, “God doesn’t give you more than you can handle,” became very real. We began to take the stand and attitude that we must move forward. We needed to become experts on all there was to know about Lowe and become advocates for our son. We began to appreciate this special boy in a completely different way. We now felt honored, humbled, and flattered that God chose us to be his parents. He trusted in us, that with His guidance, we could care for this precious little boy and for that we are blessed. We were inundated with an abundant amount of support from our family and friends that kept us going.
Now that we had a diagnosis, the next most important person would be a Nephrologist, a kidney specialist. When we took Mason for his appointment, she ordered yet another blood test to check his levels to see how his kidneys were functioning. No sooner were we in the lab to get his blood then were we out. They told us the only way to get his blood was through his head. We were not tolerating this. We demanded they find a way to find a vein in his ankle or foot. As they stuck the needle in, he clotted and began screaming at the top of his lungs. With an attitude like we weren’t already going through enough, they demanded we take it from his head. We scooped Mason up from the table, put him in his car seat and told them to take a hike! We called his nephrologist and asked if he could wait 2 weeks to get his blood drawn at his pressure check while he was under anesthesia. She gave us the go ahead for that.
Two weeks later, it was back to PCH for a pressure check. Pressures were even lower this time! We were now in the low teens! Poor guy had to get stuck 7 different times to get enough blood for testing. Good thing he wasn’t awake for any of it! His blood was sent to the lab, he was cleared from recovery and we were on our way. Not even 5 minutes from home, we received a phone call from the hospital. The anesthesiologist informed us that Mason’s blood count was not good and that we needed to bring him back to the ER immediately. He would need to redraw Mason’s blood to confirm that his levels were this low and that he would need to be admitted to ICU to be monitored to avoid cardiac arrest. How could this little boy sitting next to me, just snoozing away, showing no signs of any problems be this sick? We arrived back at the ER and as scared as we have ever been, we had to agree to let the doctors draw Mason’s blood from the vein in his head. We had to make the call that was best for him, not us. We couldn’t bare to see him get stuck more than once while he was awake. We demanded to have the IV team down with special lights and an ultrasound machine to assure they would get his vein the first time! Thankfully, Gramps was there to be with him during the draw because Mom and Dad could not see their little boy get stuck in the head. It was over in a matter of minutes and of course, Mason was more angry that these people were holding his arms down than he was with the needle sticking out of his head. We were given 3 possible scenarios at this point: 1. There could have been a lab error and his levels could be completely normal. 2. His levels might not be as low and he would be admitted to a normal floor for monitoring. 3. His levels could indeed be that low and he would then be taken to ICU. By the grace of God, it was a lab error. His levels were although on the low end of normal, still normal! Praise Jesus! We were released and really on our way home for good this time!We would need to redraw blood in about 2 months to check the function of his kidneys.
After Mason got both surgeries, we were told that it was possible that scar tissue could form over his eyes, referred to as a second cataract. Sure enough, On Monday, August 22nd, 2011, we noticed a white substance over Mason’s right pupil when putting his contacts in for the day. We immediately contacted his eye doctor and he confirmed that scar tissue had grown and that we would need to go back in. We scheduled surgery just as soon as we could. We also had to meet with a retina specialist to make sure his retinas were still intact. The ultrasound on his eye confirmed that his retinas were completely normal and in place, giving us the green light for surgery on Wednesday, August 31st, 2011. After a 2 hour delay for surgery and one hungry little man, Mason’s went back for surgery. The scar tissue was a gel-like substance that just fell out upon cutting open the eye and no serious evasive scrapping was necessary! His pressure check was the best it had ever been at 8 and 9. This meant the surgery was working and controlling his pressures without drops! We sat in recovery for a few hours and were able to take our little superhero home!
It certainly hasn’t been an easy road and we will certainly have many more things to come our way but we have been given the most precious and joyful baby boy. He’s a true gift from God. Mason is our strength and our superhero. He has endured and continues to endure so much poking, prodding, testing, and exams than most people will in a lifetime and there still isn’t a morning that he doesn’t wake up with a smile for his Mommy and Daddy. He is the light in our darkness and holds our whole hearts. Anyone who gets the chance to know him is truly lucky. He touches so many peoples lives! We are so grateful for all the support and love from everyone! God has certainly given us amazing people to go to for just about anything. Please share this story, Lowe Syndrome, prayers and thoughts with everyone that you can. With your help, hopefully there will be enough awareness to bring funding for a cure! This syndrome many not effect many but for those of us it does, it matters! Thank you for taking time to learn about Mason Man, our little superhero and thank you from the bottom of our hearts for your thoughts and prayers! We will continue to update everyone on Mason’s progress here for all to see! If you would like to contact us, please feel free to email us at: Masonmansuperhero@gmail.com!
Blessings to all,