Derek and I wanted to have a birthday party for Greyson, but had very little time to plan one. We searched around places in the Lancaster area that would host a small party (just immediate family), where Derek and I would have little responsibility to set up or clean up. We knew it would also have to be at a venue where the kids could run around and have ample opportunities to let out energy. After budgeting and looking at dates, we settled on BounceKraze to host his party. From previous trips to Hilton Head’s Island Bounce Place, we knew that G loves to bounce and run around. This would be the perfect place to host his party.
Derek and I were responsible for any balloons we wanted (we got a small bundle of them) and a cake. His party this year was pawpatrol but it could’ve been anything and he wouldn’t have cared. We arrived at BounceKraze around 11:30 am, brought in the balloons and cake and Derek and I were officially off the hook for the remainder of the party. Greyson immediate ran to the toddler area, faster than I could take his shoes off, and that’s where he remained for the next 90 minutes.
He had a great time bouncing and only got irritable one time, when I wouldn’t allow him to bring his juice into the bounce house. We also managed to get out of there with one tiny injury between Lexi and Roslynn: they went down the big slide together too closely and bumped heads.
The party room was the perfect size for our small party. Naturally, G was mad because he was now confined to an area, so he was fussy at first but quickly quieted down when he saw the balloons. The party pack we ordered provided 4 pizzas, drinks and chips and Derek and I brought along the cake. Everything was set up and cleaned up and we barely lifted a finger. It was fantastic! The staff was great and our party hostess in particular, was awesome with preparations and making sure G was happy and comfortable. We left the party with 2 extremely sleepy toddlers and 2 extremely satisfied parents.
By the time we loaded the car up with leftovers and presents, G was already out cold.
After a successful party, tired children and a happy birthday boy, we got home and also crashed. I was hoping for a quiet Saturday evening, but the health insurance Gods had a different plan.
The kids had dinner and after our evening bedtime routine, we were watching Daniel Tiger’s Neighborhood to settle in for the night. Greyson caught a second wind and began running across the couch, until his foot slipped and went in between the pieces of the sectional couch. Immediately, Greyson let out an awful scream. Turns out, when Greyson’s foot went into the crack in the couch, his foot was punctured by a piece of metal that holds to sectional pieces together. Once Derek pulled him out of the sofa, he saw a lot of blood. Judging by the amount of blood, I knew he would need stitches. So, like our typical weekends, Derek packed G into the car and drove him to the ER, while I took Roslynn to my parents house (I was NOT bringing her into the ER on a Saturday night).
Once we were seen, the ER doctor confirmed that he needed stitches. If you’ve ever had stitches, you know that the stitches aren’t the difficult part of the process, the needle to numb the area is. Greyson had fallen asleep in the time between the waiting room and the being seen, so G was out cold when they started the procedure. The pinch of the needle sent G into a giant tantrum, which made it extremely difficult to hold him still enough to get him stitched up. Luckily the ER doc was quick and had a steady hand, so the process itself wasn’t too bad, or too long. The Lancaster General Hospital ER on a Saturday evening is always a fun place to sit around and wait, and with multiple traumas coming in, we didn’t get home until after midnight. Both kids were awake when we got home, so it was well after 1:30 until we went to bed.
Waking up this morning, yesterday felt like a dream. Except it really happened, and Derek didn’t freak out with the amount of blood everywhere! We survived our first legitimate injury as a family like pros, guess we have had some practice with emergency situations. I’m really hoping for a boring, uneventful Sunday today. We have our first trip to the main CHOP hospital tomorrow, when we will meet with the neurologist that specializes in genetic abnormalities. Hoping for some more insight and information into Greyson’s genetic condition. We can only hope.
Hard to believe that exactly three years ago, my amazingly special little boy was born. 5:03 pm, Greyson graced us with his tiny body and big personality. My birth experience with Greyson was actually peaceful and calm. I had gone into labor naturally exactly 1 week before my scheduled cesarean section and because I didn’t go into labor with Roslynn before my emergency section, I had no idea what to expect.
My section with Roslynn was an emergency due to atypical preeclampsia, so I was really out of it and had zero recollection of signing documents to allow interns into the OR. When it came time to go into the OR this time around, I denied all unnecessary staff/students access to my procedure. It was amazing to have less than 5 people in the room, especially since there were at least 10 in there when I had Roslynn. It was quiet. That’s really the one thing I noticed the most that day- the complete silence in the room. Yes, Derek and I spoke to each other and my doctor spoke with her assistant, but Greyson’s birth was calm, quiet and peaceful. Totally opposite of the 1,095 days to follow.
As you can see, he loved being wrapped up tightly, even snoring away at 3 hours old.
Having our first child 15 months prior to Greyson’s arrival, Derek and I were pros in the newborn baby department. But something with different about G. Countless times I’ve heard the same advice for parents of two (and more) kids- “the older sibling talks for the younger one, so his speech will probably be delayed.” Or, “you can’t compare your kids to each other, they’re all different!”. Or my favorite: “he’s a boy. This is what boys do.” Ok. I get it. But after hearing Roslynn’s cry for 15 months before G was born, I knew something wasn’t right whenever he let out a shrieking scream.
Greysons’s regular “crying” was equivocal to Roslynn’s “I am seriously injured or sick” cry. At all hours of the night (and day) Greyson cried often, and rarely wanted to be held and consoled. We discovered he was an independent (or so he wanted to be) baby, who was ready to conquer the world by 8 months of age. Now, not many people realize this, but in utero, cysts were found in the choroid plexus in his brain. The cysts are one of several flags for trisomy 18, commonly known as Edward’s Syndrome. Luckily, G did not have the other red flags for the condition, nor did he have a positive result when genetic testing was done. Why does this all matter?
If you’ve been following my blog recently, you’ve probably read about Greyson’s recent onset of Grand Mal seizures and several trips to the ER. After 639 days searching for answers, I am becoming more accepting of the fact that we may never truly understand Greyson’s brain, or even have an accurate diagnosis. My birthday wish for Greyson, is that he continues to be a happy, healthy and funny little guy, with a big personality and even bigger head of curls.
Greyson has several upcoming appointments and imaging tests coming up in the next few weeks. He also has his intake at CHOP in Philadelphia, with a doctor that understands his genetic mutation (STAMBP Gene) better than our CHOP neurologist is comfortable discussing with us. But, for the next four days, my goal is to give Greyson the happiest 3rd birthday party he could imagine and allow him to be a typical 3 year old boy. These times are trying, but Derek and I are doing our best with providing the best life possible for Greyson and Roslynn. We can only do this together, leaning on each other, talking to each other about our weaknesses and our accomplishments and by being honest to each other and ourselves when it comes to this entire (long) process. We welcome the challenge whole-heartedly.
The first 24 hours
Greyson’s second birthday
Stay turned for images from Greysons’s third birthday party!
Whenever I get the chance to speak with other moms who have kids with special needs, I always ask if they knew something was different about their child while they were pregnant. The connection between mother and child, from the first heartbeat, is indescribable. Interesting enough, most mothers day no, that they didn’t feel that anything was wrong until their child was born. Now, they say that redheads tend to be more “in tune” with their bodies (not sure I believe that), but I do recall several times that I felt something was different when I was pregnant with G. Maybe it was the doctor finding cysts on his brain, or the fact that I wasn’t puking all day like I was when pregnant with Roslynn, but I did feel something was off a bit.
Motherly instincts is something that has interested in me since seeing an episode of “Unsolved Mysteries”, one day while I was home sick from school. A segment was done about mothers who had odd feelings about their kids, only to find that they felt these odd feelings at the exact same time a traumatic event was happening to their child. Some of the examples were when a mother was washing dishes and her 6 month-old daughter was silently choking on a small balloon in the living room with her father (who was reading a newspaper). The other example that I remember seeing was when a mother was visiting a friend across town and the mother had a weird feeling about her son, and she called the child’s school and her son had fallen and broken his arm at the exact same time she felt weird. Not saying that all mothers feel “off” when their child has a traumatic experience, but I too have felt these odd feelings on several occasions. The most recent one being yesterday morning.
This week at the Martin household has proven to be the craziest yet. Whenever I think things can’t get more chaotic, the next day typically proves me wrong. Not sure if I was feeling the stress because of work, or if it was the stress of trying to manage G’s appointments, but Monday felt like it should have been Friday. Never a good sign to start the week. Towards the end of last week, Greyson had a medicine increase in his Trileptal, and had a seizure and very difficult day that Thursday. This prompted Dr. Comi to order new imagining, an EEG and labs.
By Tuesday, I hadn’t heard from Kennedy Kreiger’s scheduling office, so I was going to call and schedule the tests as soon as I was home from work. Unfortunately, Greyson was in one of his manic/extremely hyperactive episodes, so the scheduling slipped my mind almost instantly. His behaviors had gotten so bad, that I made Derek take him on a car ride to calm him. Turns out, G just screamed the entire 45 minutes in the car. He did appear a little more calm once they got home and G finally fell asleep on Derek’s shoulder.
About 15 minutes later, I noticed Greyson was moving his mouth in a strange manner, almost like he was trying to talk. I quickly realized that he was going into a seizure.
Naturally, Mr. Duke was all over him. The video shows Greyson seizing on the floor, as Duke barks repeatedly because I told him to back up and give G some space (he didn’t like my request). He ended up coming out of the seizure on his own and slept with Derek for the rest of the evening.
Wednesday we had a follow-up with G’s child psychiatrist and increased his Risperdal dose very minimally, since he appears to be responding well to the dose he was on. His ABA and Special Instructor sessions at the house also appeared to go very well, so I was hopeful for a quiet end to the week. Thursday did hold true to my hopes.
Friday morning, I woke up at 4:30 am as I always do. I did remember hearing G crying/fussing a bit overnight, but didn’t think much of it. I continued my morning routine, but I had that indescribable “something isn’t right” feeling. I checked the nursery camera and saw that G wasn’t in his crib (didn’t really surprise me since I heard him fussing around 1 am), so I switched to the camera we have downstairs. Derek was asleep on the couch and G was right next to him. I almost switched back over to the news channel I was watching, but I decided to zoom in on G. He was in an odd position- almost sitting up with his face in the crack of the sofa cushions and he was moving in an odd way. I quickly run downstairs and see Greyson having a significant generalized seizure.
Side note, quickly: I onlyfilm the seizures if I have another adult with me to assist. We have been asked to do so by the neurologist, so she can see how the seizures are similar and how they can be different.
As you can see in the video, he really was convulsing. I don’t know how long he had been having the seizure before I saw it, but from the time I ran downstairs, until I administered the emergency medicine, it was about 5 mins or so. I truly felt that unless he had his emergency medicine, he wouldn’t have come out of the seizure independently. Luckily the meds kicked in fairly quickly and the seizure stopped. The remainder of Friday was accompanied by aggression, self-injury and lots of crying. By 5 pm, I was dead from the work week and both kids were tired.
The next few weeks will test our patience, as we have several different appointments in Lancaster, Philadelphia and Baltimore. Really praying that we can get some help and get these seizures and behaviors under control.
The first full week back to work after vacation, proved to be a busy one. By the time Thursday came, the daily coffee and espresso consumption was barely managing my fatigue. The previous weekend was difficult, with Greyson having a long weekend of crying, headbanging and aggression. Because of the stressful weekend, Monday morning was greeted as my relief.
Wednesday, Derek and I brought G to CHI St. Joseph’s for a follow up appointment with his child psychiatrist. After a year of debating and consulting with the neurologist, pediatrician and psychiatrist, we decided we would try a very low dose of Risperdal for Greyson’s behaviors and irritability. After the appointment, I was able to discuss our plans moving forward with a family social worker, and was able to get some help from her with organizing possible respite care. I left the CHI office feeling encouraged and optimistic that the medicine may help Greyson, and that the social worker may help us get resources together to help the entire family.
Flash forward to Thursday, the busiest day of the week (at the office AND at home), which began eerily calm. My wonderful co-worker, Lara and I opened the office as we typically do Tuesday thru Friday at 7:30 am. We both discussed looking forward to the weekend and only having “one more day” until the weekend. I explained to her the song from the musical Les Miserables, “One day More”, and how Derek and I usually sing/reference it on Thursday evenings or on Friday mornings to encourage us to finish the week. Naturally, I had to play it for Lara and sing along to get us to Friday.
Roslynn had he first tap/ballet class on Thursday afternoon, so I picked up the kids, ran home, for her ready for dance and high-tailed it down to Lampeter to the dance studio. The class does not permit parents to be in the studio until observation day, so I was able to take some time and catch up on emails and other stuff that needed addressing after vacation.
(Roslynn practicing her tap moves)
By the time we got home, our dinner was almost cold and it was nearly 7:00 pm. We had picked up Greyson’s Risperdal on Thursday, so he was given his first dose around 7:00, with the rest of his evening medications. G fell asleep about an hour or so later and was peacefully asleep in his crib until 9:00, when Duke began to pace and bark, as if he needed to go out. When he continued his restlessness after coming back inside, I heard coughing coming from the nursery upstairs. I checked our “Nanny Cam” that is set up in G’s room, and saw that he was convulsing in his crib. I began to run upstairs and was immediately followed by Duke and Derek. Upon entering the nursery, Greyson was having trouble breathing. We turned him to his side, and he continued to gasp for air. We brought him downstairs to the living room and made some calls, which resulted in us being advised us to contact 911 and have Greyson taken to the Emergency Department.
The ride over to the ER in the ambulance confirmed that G was having trouble getting air into his lungs, possibly due to them not expanding. I thought, could this be an allergic reaction to the Risperdal? That suspicion was ruled-out once arriving at the ER and G’s bloodwork showed an elevated WBC count. He also was tested for an array of respiratory viruses, which came back as positive for the virus that causes croup. Until his difficulty breathing and his coughing in the crib from the seizure, Greyson showed zero signs of being sick. The hospital provided G with breathing treatments and an IV steroid to open up his lungs. The seizure may have been caused by his lack of oxygen or that the Risperdal caused it (one side effect is that the medicine causes an increase in the seizure threshold, typically resulting in some breakthrough seizures). Finally, G was discharged around 2:30 am and everyone was more than ready to get to bed.
G was pretty out of it in the ER
Pappy came to the ER after work
The alarm clock went off way too soon, at 4:30 am. I decided to stay in bed another hour and chose sleep over straight hair and makeup for my work day. I managed to get to the office and survived the entire day, though I did have to make and take several calls regarding increasing G’s seizure meds, scheduling follow up appointments, etc. Once at home, dinner and bed couldn’t come soon enough. The Martin family settled in and had an early bedtime.
As I write this post (8-9 am on Saturday morning), Greyson is still asleep in his crib. He has never slept past 6:30 am on a Saturday morning and certainly never needs woken up to eat/start the day. Fingers crossed for a calm, low-key weekend and no further seizures or emergency room trips.
Mr. Duke helps save G again- this dog is never leaving us
Remember when you were a kid and your school closed for a snow day, before going to bed? Not only was this instant bliss that no alarm was set, but you could sleep peacefully without worrying about school. The night before a school snow day was always my favorite. It was also the best time to go sledding- in the dark, when the night sky was lit from the clouds, and the snow reflecting off the ground gave the appearance of a blanket of white. The sound of silence with a faint sound of snowflakes hitting my jacket as I stood outside, was the absolute best.
I often find myself having this peaceful feeling early in the morning each day. People always ask why I get up so early: between 4-4:30 AM daily. I soak in the calmness early in the morning and while the rest of the house sleeps, I can take a hot shower in silence. The best.
This week however, whenever I have these quiet moments, the lack of noise is excruciating. I am panicked and frequently checking the “Nanny Cam”, to make sure that Greyson is okay (and breathing). The seizure two weeks ago really threw me off balance, but the two additional Emergency Department visits have really topped the cake.
The Nanny Cam- best $20 ever spent at Amazon.com
Saturday, we had a normal day at home. Breakfast, showers (baths for the kids) and we were out the door to run errands and to attend the CADD staff picnic. Roslynn was especially looking forward to the picnic, since I made her aware there would be a bounce house for the kids. After running some errands, we made it to the picnic. Unfortunately, because G was having a tough day, we ended up staying for only about an hour-just long enough to let Roslynn bounce and for Greyson to watch the first half of “Toy Story” in the car, with Derek and the A/C cranked.
After the picnic, we stopped over at my parents house for a quick visit to say hello. Once we were there, Greyson began to act odd. I didn’t think anything of it, especially since he was still thrown off a bit from the previous seizure, a week prior. At both our house and my parents house, Greyson doesn’t have a difficult time with steps. He knows to crawl or hold on tightly when going up, and to go down the steps on his bum. Saturday however, Greyson appeared to have a difficult time with the steps and tumbled down half a flight of steps at my parent’s house.
Greyson is a trooper. He can handle a lot for a little guy, so when he began to cry/scream, I knew something wasn’t quite right. We took the kids home and got dinner ready and right before we sat down to eat, there Greyson is, falling down the entire flight of steps. Because he typically goes up and down those steps several times and hour without falling, I knew something wasn’t right. When Greyson stood up, he looked like he was intoxicated: glassy eyes, no coordination whatsoever and he was really distant and defiant, basically falling over his own feet.
After much internal debating, I ended up calling Dr. Comi’s personal cell phone line. To my surprise, she answered and was willing to chat with me about what was going on. She informed me that it would be best for Derek and I to take him to the ER for some bloodwork, imaging and observation. So at 6:30 pm, Derek and I drop Roslynn off at my parents house (again), with her emergency overnight bag that we compiled after Greyson’s first seizure happened, and high tailed it down to the ER at Lancaster General.
Note to self, do not ever go to an emergency room in a city on a Saturday night. The characters that were at the emergency room were quite interesting. Greyson was throwing a scene because he was tired and did not like to be confined to one small area of the waiting room, so he decided it would be best to scream the whole time. A nurse in the waiting room saw our struggle with Greyson, and brought out a coloring page and some crayons and she began to speak to Greyson as if he were a neurologist-typical child. It still shocks me to know that Emergency Rooms cannot manage (and honestly have no idea) how to interact with non-verbal, autistic children. Though the nurse had good intentions, I knew that Greyson is unable to hold a crayon unless he is eating it, so I told her that she should give the coloring page and crayons to someone that would use them. I think that the other patients began to get annoyed, so they took us back almost instantly after the crayon situation ended.
Once we were back in the room, another staff member came in to begin registration for him. They confirmed his information was the same (since we were there just two weeks prior), and got him set up with an identification bracelet and ordered labs to be drawn. If you have ever been to an emergency room, you know that things do not move very quickly. In the midst of waiting for the phlebotomist to come up and draw his blood, Greyson began to get very anxious and angry that he was confined to a small room. He quickly became aggressive: hitting, pulling hair, smacking, pinching, biting and head butting Derek and I any time he was redirected or picked up. He threw a giant tantrum, which wiped him out. He fell asleep almost at the same time that the lab techs came in to draw blood.
Surprisingly, he slept through everything up until the pinch of the needle piercing his skin. That really pissed him off. Despite their best efforts, neither phlebotomist that attempted the labs, was successful in getting his blood. So we waited again. This time, the veteran of the lab came up to try.
I’m convinced all mothers have a superpower that allows them to know their children’s needs at all times, so I knew this man would not get his sample unless Greyson was sitting upright. I told him this, and he proceeded to give me a yeah right look. So, Derek hopped up into the hospital bed and held Greyson as the man successfully drew blood from Greyson’s arm.Told you so.
Another nurse came in a bit later and collected the small adhesive baggy we placed in his diaper for a urine sample. By now, Greyson was awake and extremely angry. We waited for about another hour or so until we got some preliminary lab results and Dr. Comi was able to review them with the ER docs. She gave us the all-clear to go home and observe him.
Happy he is done getting poked
Flash forward to Monday evening.
After work, Roslynn and I had a tour and meet-and-greet at the preschool she will start at in September. Greyson wasn’t going to make it through that, so Derek took him home. After the tour, Roslynn and I played over at the park across the street and stopped over at my parent’s house, which is about 3 blocks from the school. Almost as soon as I sat down to talk to my dad, Derek called and said Greyson was having another big seizure. Unlike last time, G was still breathing and his convulsions weren’t as severe. After three minutes, Derek administered his emergency seizure meds, which slowed the seizure. He ended up calling 911 because he was unconscious for a bit and kept falling over whenever he attempted to stand up.
I pulled up to the house as the ambulance was driving away, but from the driveway, I could hear Duke barking and whining. For the second time, Duke made it known to Derek that something was wrong with Greyson. I literally could never get rid of this dog now. Haha.
I rushed over the the ER with Greyson’s emergency bag and made some calls to arrange childcare for Roslynn. I got to the hospital and went back to Greyson’s room immediately.
He gets so tired after seizures
Greyson was asleep for some time, until the lab sent staff up to get some samples. The same issues happened as Saturday evening, so the tech ended up pricking his finger and filling up a small tube with the blood from his finger tip. It seemed like hours until the doctor leaveon staff came in. He saved us from an EKG, which would have never happened because G can’t keep the sticky things on to save his life, and he sent us on our way with a follow up neurology appointment with our local neurologist. We will travel to Baltimore on the 19th for a followup and hopefully have his EEG completed before we head off to SC for vacation. Dr. Comi wants him to get an MRI as well, but we won’t get that done until after our trip.
So, all in all, after 3 trips to the hospital, G’s meds were increased and he had some appointments set up to followup with the neurologists. We are still trying to find the trigger for the seizures and the right med/dosage for his anticonvulsants. Hoping we have some more answers by our trip in two weeks. We are also hoping the increase in medicine will help keep things quiet around the Martin house, and really optimistic that we will figure out the trigger of the seizures.
I also want to say how thankful we are for great family, friends and coworkers that have checked in on us and G. It means so much to us that so many people care about us and are so supportive of our journey with Greyson. We couldn’t do this alone, and even the smallest gesture is incredibly helpful for our spirits and overall outlook on this difficult time.
Today we headed down to Baltimore again for our genetic testing results and a neurology follow-up. Again, another early morning commute down I-83 aka the construction highway, to an appointment that we may or may not receive answers or recommendations from.
Ready for the road trip
I was exceptionally nervous today for the appointments. We have been waiting for genetic results since December 2017, when we began the genetic testing process. Fully anticipating not getting any real answers, I didn’t want to get my hopes up that we were going to find out what has caused Greyson’s disabilities.
I drove down I-83 with countless thoughts in my head. What if they did find something? What if they didn’t? Should we pursue more options or tests? What else could we be doing for him to make him the most successful? I attempted to keep my mind off of the “what ifs”, and tried to distract myself with vacation discussions with Derek.
Once in Baltimore, it was the same routine: drop the car off with vallet, check-in at security, then with the outpatient clinic, then finally the nurse brings us back to start the appointments. The moment we stepped into the consultation room, G started crying and throwing a tantrum. I thought we were well prepared for the trip, fully equipped with snacks, juice, books and toys, but nothing seemed to calm G.
Finally, Dr. Julie Cohen, the genetic counselor came in the room and after a very brief greeting, cut right to the chase. My leg was shaking as we waited for the answers to all of my questions I frantically thought about on the drive down. When we had the samples taken from Derek, G and I in December, we knew the odds were not very good for getting an answer- a 40% chance of getting an answer, to be exact. Julie said that we “sort of” fit into that 40%, but not really. What does that mean?! We have an answer and a reason “why”, but it’s not a 100% today.
The entire exome sequence analysis showed only one variant in Greyson’s DNA makeup. Gene STAMBP, specifically variant p.R78X, which is responsible for MIC-CAP disease: Microcephaly-Capillary Malformation Syndrome. This variant is a heterozygous, autosomal recessive gene that was inherited from a carrier parent, and a “likely pathogenetic variant” contributing to G’s symptoms.
In people withmicrocephaly-capillary malformation syndrome, microcephaly begins before birth and is associated with an unusually small brain and multiple brain abnormalities. Affected individuals develop seizures that can occur many times per day and are difficult to treat. The problems with brain development and epilepsy lead to profound developmental delay and intellectual impairment.
In G’s case, he only had one variant, which means only one parent was a carrier, often leading to a non-effected child. Because this disease is so incredibly rare, less than 1% to be exact, it is extremely difficult to detect. Because the exome sequence only looked at the overview of the chromosomes, there may be more variants that he has, that are currently unfound or undetectable with current technology. This all said, Julie did not feel that it was something that is too concerning, however, she did find that it was interesting that G presents many of the symptoms, but only had one variant. Because technology and genetic discoveries are everso changing, the lab will store our samples and retest them in two years when more information may become available.
That, in a nutshell, was the first appointment of the day.
Tempted to Google and self-research, I refrained and read the generic report that we were provided with. The nurses then came in to get Greysons vitals, which was difficult because he had fallen asleep after his 45-minute tantrum. About an hour later, Dr. Comi came out to bring us back to our appointment with her. We updated her on his development, behaviors, seizures and migraines and similar to what Dr. Stein stated earlier this month, confirmed that G was stable on his current meds and dosages.
She then pulled up the genetic testing report and connected the dots between the STAMBP variant and Greyson’s current symptoms. Commonly, children with MIC-CAP have one or more of the following symptoms:
Dysmorphic Features, such as cleft palate, thin lips, low ears, flat hairline and extra webbed fingers and/or toes (G doesn’t have any of these)
Loss of normal protein function (He doesn’t have)
White matter brain loss (G has)
Thin corpus collosum and other non-specific brain abnormalities (He doesn’t have)
Coincidentally Greyson shows several of these symptoms, but because only one variant was found and research is extremely limited on MIC-CAP, Greyson is considered a carrier but not effected. Though not effected as of today, there have been cases that show a child to have MIC-CAP that has been inherited from only one parent and not both. This is extremely rare and not common, but we seem to hit the genetic jackpot everywhere else, so why not this too? The report goes on to state that:
“We interpret R78X as a likely pathogenic variant, related to the port-wine stain, seizures and global developmental delays found in this client.”
So basically, G fits into both the category of 40% no definite answer found and the 1% of the extremely rare variant that causes MIC-CAP. As of 2019, we know that it is so rare that he has an extremely mild form of MIC-CAP, but in two years, he could have the diagnosis. In conclusion, the report also offers another open-ended question after stating:
“While no other potentially disease-associated variants were identified by exome sequencing of the STAMPB gene, it is possible that this individual harbors a second variant that is undetectable by this test.”
So, he could have this rare disease, but a less crippling form? As of 2019, it’s a maybe, but come 2021, it could likely be a definite.
One last test that could show the second variant needed for the positive diagnosis, is a skin biopsy of G’s port-wine stain. Yes this is invasive and he would have a small scar, but what would be the benefit of that definite answer? Is it worth it, or should we just be content with knowing this is likely what has caused all of these issues? What good will a biopsy do if there’s not cure or treatment available for MIC-CAP? Again, we are leaving with more questions rather than answers.
After digesting all of the information accrued over the two appointments, I found it relieving to hear the fire alarm go off. A fire drill of all days, with our child that is extremely sensitive to light, sound and crowds, being carried outside on the streets of Baltimore for a fire drill. We found a nice bench and popped a squat until the alarms stopped and we were cleared to go inside and be discharged for the day.
A beautiful spring day with Daddy
After discussing all of this information with my mother (who always has the magic touch when needing to calm someone down to think about things), she gave me some great advice: “take a few days and process this information. These answers specifically will not make a difference to the past and the future at this time.” So, why worry about the future and the past? We can’t change our genes and our family inherits, so we will live for today. We will continue to support our son and help him the best that we can and pray that we find the peace of mind with this information.
If you’ve been reading previous posts, you’ll know that G’s appetite has come and gone several times over the past year. He’s extremely picky when it comes to textures and hates spicy foods (to which Derek is convinced he’s not his child). It seems that if Greyson eats something he doesn’t like, he will never try that food again, come hell or high water. That is, until he tried bacon.
This kid loves his bacon! Every Sunday while Derek and I are at church, G is feverishly finishing off half a pound of salty, crispy, fried pig. His obsession has become so intense, we now order him pizza with bacon on top. I have even debated buying bacon bits and sprinkling them on everything, just to get this child to eat vegetables or red meat. I am minorly concerned about giving him too much sodium, but I’m just happy he’s actually eating!
This isn’t the beacon of hope that I’ve alluded to in the title of this post. Today was another day, another doctor appointment with little man.
We met with Greyson’s local neurologist in Ephrata for a 3 month follow up. A few weeks ago, I called the neurologist with concern that Greyson’s cyproheptadine was losing its effectiveness for Greyson’s migraines. At that time (about 5 weeks ago), we doubled his dosage from 5 ml to 10 ml. This made G extremely tired and very very hungry. Not sure if it’s the cyproheptadine that surfaced his love for bacon, but he’s put on 5.2 lbs in a little over a month. I think that the bacon is to blame…
The neurologist said everything looks great with G! No seizure activity recently, no motor tics and his headaches appear to be under control. We have blood work to do before our next visit, but he’s in the clear for 6 whole months unless concerns arise! I am so happy that this is one less appointment we will be regularly attending. We will have a follow-up with the genetics team and neurology clinic in Baltimore on the 27th, and hopefully we will know more about what genetically is going on. Hopefully. I’m not sure if I’m ready to face the fact that we really could never know what has caused Greyson’s brain issues. Though I do feel like knowing could also be just as bad as not knowing.
Each month, the admin team at CADD meets for an engagement gathering to discuss ways we can better ourselves as individuals and as a team. This month’s gathering was about finding the positives in all situations, and how negativity and poor attitudes ultimately cause failure and is detrimental to the workplace and home settings. While watching the Ted Talks video, the speaker, Shawn Achor mixes humor with beneficial points about happiness and attentiveness to attitude.
This engagement gathering was particularly interesting for me because I have often struggled with finding the happiness in all situations, especially when you’re an exhausted mother of an autistic child. I wanted to take a tip from the video and find ways to promote my own personal happiness. I have decided that it would be difficult to write or journal about a daily moment of happiness, so I will commit to a weekly moment of happiness. My weekly moment of happiness will revolve around our journey with G and finding happiness in any situation, good or bad.
This week’s moment of happiness was Greyson’s first dance party. Now I cant take credit for this video since I was at work, but I’ve watched it at least a hundred times, and it never gets old. I’ve only seen Greyson dance maybe once for a few seconds… definitely not long enough to catch a video of it. I was extremely grateful that his BT was able to catch it and send the videos to me. See below and tell me that this tops all moments from this week. Maybe even your week. It was a close call between this and him giving me a kiss when I asked for one.
Now, don’t be jealous that you don’t have these moves yet, but hopefully Greyson will be ready to start teaching dance classes once he his age 5.
I encourage all my friends, family and readers to find a moment of happiness from this week and share it with someone else. You’d be surprised at how great you’ll feel after reliving the happy moment in your mind, and being able to put a smile on someone else’s face.