One Day More!

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.

One Day More- Les Mis

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

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Travel Plans

Now that we have been back from South Carolina for a few days, I finally have a moment to post about our trip, and the days leading up to it.

My family typically schedules our vacations far in advance, which worked out well in this instance, since I needed time to do some research about traveling with an ASD child. Last time we were at the beach, Roslynn was 2 and Greyson was only 11 months old and not walking yet. Now that he is bigger, faster and stronger, I needed to make sure I had everything we would need for our venture south.

After months of googling, following different posts on Pinterest and getting advice from other parents of toddlers and ASD kids, I felt confident I would have everything set for the trip. We were leaving very early on Friday, June 21st, so I had a large list of things to get done beforehand, such as:

  • Taking Greyson to Baltimore for a med increase
  • Refilling all of Greyson’s meds, so we were covered for vacation
  • Work as many hours as possible into 3.5 days
  • Pack
  • Maybe sleep?
  • Prep the automatic feeders/watering devices for Carlie
  • Prep the house for us being away for 9 days

On Wednesday, June 19, we had squeezed ourselves into an emergency appointment with Dr. Comi down in Baltimore for Greyson’s recent seizure activity. After the office calling three times to change the appointment on us, we managed to get down there and discuss the seizures with her before we left for vacation. After describing (and Derek role playing) the seizures, Dr. Comi agreed that it would be in our best interest to:

  1. Catch a seizure on video
  2. Increase G’s meds over the next two weeks
  3. Contact JHU to get a skin biopsy with Dr. Cohen, to look for the second variant of the STAMBP gene

With all of the recommendations and increased meds, I felt that we would be okay to go to SC without any issues.

Wrong.

We left on Friday morning around 5 am. Luckily both kiddos were still drowsy, so we were able to drive for awhile without any crying/screaming. Once we hit Virginia, that all changed. We had G crying and trying to escape from the car seat and Roz upset that she wasn’t watching every movie that she wanted to watch. My family decided to stop at a restaurant for lunch, mid-state Virginia. G was already pretty fed up with the car and being confined to one area, that he was having a tantrum before we got inside.

The hostess informed us that it would be about a 20-30 min wait, so Derek and my sister took G outside to walk/run around until it was time to be seated. Roz and I stayed inside and wandered around the crowded “gift shop” type store that all Cracker Barrels feature. I managed to avoid having to buy Roz any toys or candy from the shop, so I was hopeful for a quiet(ish) meal.

Because there were 14 of us, we were placed at a long table in the rear of the restaurant, where 6 other tables were also occupied. Immediately upon placing G in the highchair, G lost it. He began screaming, crying, hitting, biting and headbanging at the table. I am still easily upset and embarrassed when it comes to tantrums and behaviors in public, that I was completely mortified that he was “ruining” other patron’s meals by his fit. Derek and my sister Sarah took G out of the dining area and began to walk him around to settle a bit. Once our meals were disbursed, they rejoined us to eat. Unfortunately, it was past the point of no return for Greyson. He refused to eat, was throwing things and hitting Derek and my mother; who were sitting next to him.

In the midst of my embarrassment, I did not realize that 4 of the 6 other tables had already been moved to another table, or took their food to go. Only after the waitress attempted to calm Greyson with french fries and ketchup, did I notice the empty section of the restaurant around us. I felt tears coming to my eyes as my parents reassured me that people are ignorant when it comes to special needs children and that G was fine. The worst of all was a table filled with 6 or 7 elderly patrons, who made a scene as they requested their table be moved immediately away from the section we were in. Despite the waitress’ attempt to make us feel comfortable and welcomed, I came to the conclusion that there must be absolutely no autistic people in Virginia.

Once lunch as over, we quickly left the restaurant and packed back into the car and made our was to Smithville, NC, where the hotel we were staying at overnight was located. I was hoping that G would settle down before we checked into the hotel, but he unfortunately didn’t. He screamed, cried, headbanged and was aggressive much of the afternoon/early evening. He also was up repeatedly in the middle of the night, crying, which typically is a sign he’s having seizures while he’s sleeping. We survived the night and left early the next morning, heading for Hilton Head Island (HHI).

So happy he’s on vacation

I prayed that evening for a quiet, fun and relaxing trip and I was relieved to wake up with a happy Greyson, finally. We made it to HHI around 2:00 pm and unloaded the cars. The guys went over to a grocery store on the island, to stock the fridge and coolers with food for the week. Greyson was much more happy running around a big space and I think he liked having a little more freedom than the hotel/car permitted.

We typically have the same routine everyday on vacation: wake up, breakfast, beach, lunch, pool, showers, dinner. All of these events taking place over a 10-12 hour period. Shockingly, I managed to read an entire book on the beach in 3 days. I felt so accomplished and happy that I finally was able to read the murder mystery paperback that sat untouched on my bookshelf for two long years. It was so wonderful. The days were predictable, following the same routine on Sunday and Monday.

Monday afternoon, Derek and I took G up early to the house because we all were getting burned from the hot SC sun (even with SPF 70+!). I popped into the shower first and almost immediately upon doing so, I hear Derek tell “Greyson is having a seizure!”, from the living room. I jumped out of the shower and grabbed my phone and began to film the seizure to send to Dr. Comi.

Please note that this video may be upsetting to some and I apologize for his bare bum- we need him without a diaper on to administer meds during a seizure.

Even though we increased his anti-seizure meds 5 days earlier, I was still clueless as to what triggered the seizure, and why the medicine wasn’t doing its job. After sending the video to Dr. Comi and backtracking the previous hour or so, we were still puzzled as to what caused this to happen. The next day or so, we decided to keep G inside the house and monitor him because we didn’t want him to have another seizure while we were at the beach and run out of meds.

Zonked from the seizure

So, after losing a full day at the beach/pool, our routine proceeded as planned for the remainder of the trip. Derek and I even tossed in a morning over at the Island Playhouse, which is an indoor bounce house playground and rock/rope climbing walls. The kids loved it! I swear G didn’t come out of away from the bounce houses until Derek went in and physically carried him out to leave. It was a highlight from the trip, and an awesome memory we made as a family.

Roz having a blast in the pirate bounce house

G in the large bounce house

As much as vacation was enjoyable and fun, I was glad to get back home to normalcy, structure and our first babies. Of course, now I’m ready to go back again !

The view from our living room

Some other photos from the trip:

oi

The Calm After the Storm

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.

Zonked

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.

Mr. Duke

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.

The one word G says clearly- “Woody”

6 Minutes

Our day began as all Saturdays do: kids get up at the crack of dawn and Derek and I pry ourselves out of bed, barely functioning. Luckily today, I decided it would be a good morning to clean the carpets and then go outside to plant flowers and do some yard work.

Around 8:00, I began some laundry and steam cleaning the living room carpet. Derek was starting breakfast for the kiddos and it seemed like a typical morning. Until it wasn’t.

I take steam cleaning very seriously, so I was concentrating on making sure I was getting every spot of the rug. Roslynn was on the couch watching The Phantom of the Opera: Live at Royal Albert Hall for the 500th time and Derek was still in the kitchen, starting pancakes for the kids. When I run the vacuum or steam cleaner, Greyson is typically running around and stimming on the sounds of the machine, but this time he wasn’t. I looked around and noticed Duke (the dog we got to train as a service dog but then definitely was too hyper for that) was laying on the dining room floor nudging Greyson with his nose.

Mr. Duke

Duke typically is not one to be all over the kids, so I thought it was strange that he was so close to G. I took a closer look and noticed that Greyson was face-down on the dining room floor, convulsing and unresponsive. I turned him on his back and noticed he was foaming from his mouth pretty heavily, so I gently rolled him on his side and made sure the area was safe. THANK YOU WELLSPAN FOR FORCING CPR AND FIRST AID TRAINING ON ADMINISTRATIVE STAFF! I knew what to do and felt confident in the situation because of the training I have received through work.

I yelled and got Derek’s attention and told him to call 911 immediately. I noticed that Greyson’s lips, hands and feet were starting to turn blue, so I checked for a pulse and breathing. I found a heartbeat, but no breathing, so I gave him an emergency breath, like I learned in CPR class. After a breath, I checked his chest again and he was still not breathing. I gave another and he finally gasped for air. This was all happening while he was still stiff and convulsing. I administered his emergency seizure medicine, as I was shown how to do when we first were prescribed the medicine in March 2018. After a minute, the convulsions stopped.

Derek gave the 911 operator our address and explained the situation, while I tended to Greyson, who was still not responsive. From the time the seizure started until the ambulance arrived, it was a total of 6 minutes. The longest 6 minutes of our lives.

Once the paramedics came inside, they took over. They checked his vitals and I informed them of the situation and what exactly happened, including a list of his prescriptions. Derek hopped in the ambulance and rode to the emergency room with Greyson. I grabbed his medicine, medical records and threw some shoes on. I had called my parents to let them know what was happening and that I needed them to watch Roslynn so we didn’t have to take her to the ER too.

Greyson woke up in the ambulance as soon as it was turning into the LGH parking lot and was drowsy and annoyed that people were bugging him. They took him back to a room and I met up with them about 15 minutes later.

The next two hours were a whole lot of waiting. They got him some juice, which he was happy with, and he fell back asleep. The doctor came in and informed us that Greyson has a break-through seizure, which is common in children with epileptic brain activity. The type of seizure he specifically had was a Tonic-Clonic Grand meal seizure, which included tense muscles and convulsions. The entire episode lasted about 10 minutes and because of our CPR and First-aid training, we were able to control the situation and get him the help he needed.

Greyson is ok. Derek and I were shaken up, obviously because he has never stopped breathing like that. The next 48-hours will be a lot of monitoring, but he should be back to his normal self once his diazepam wears off.

The most important thing I have learned from this situation, is that first aid and cpr training seems repetitive and boring, but it really can come in handy when you least expect it. I am extremely grateful I work in the medical field, because otherwise, I would have had no idea how to handle this situation.

And for Duke…..he will get an extra large bone tonight after his dinner. I might even let him sleep in my bed tonight, too. 🐶❤️

Fourth time’s a charm

Playing with bubbles on Easter Sunday

Friday we had our long awaited intake appointment with the Children’s Hospital of Philadelphia (the new Lancaster location). We waited about 4 months to begin the transfer of Greyson’s services there, since they are located relitively close to home and work.

We arrived at 8:30 am for check-in. The kids have been horribly sick all week with a nasty upper respiratory infection that is going around, so they both still looked tired and disgruntled a bit. I was disgruntled and tired because I woke up at 3:45 am, unable to sleep. My body is becoming quite a fan of waking up whenever it likes to get up and stress about things going on with our children. This was another one of those panicked mornings, where I am trying to get ready for work, while Derek is packing up the kids, the diaper bag and listening to me repeat the daily schedule several times.

I am being very frugle with time off right now, since vacation is about six weeks away (and nothing will keep me from 10 days off on the beautiful South Carolina sun). So I decided to go into the office extra early, get caught up on some things, and ended up working for a little over an hour before making the drive to the health campus for the appointment.

For an office that is fairly new to the Lancaster area, there was a very large group of patients in the waiting room, waiting to see one of the clinical staff members. Since the office has physicians from CHOP in Philly come in, they rotate every few weeks, so the neurologist we saw wont be back to Lancaster for a month or so. You can definitely tell that they don’t deal with autistic children of Greyson’s age often, due to the lack of experience the administrative staff had with his check-in process.

After fighting with G for his vitals, we waited in the room for the doctor. A young female- maybe my age or younger, walked into the room and introduced herself as Greyson’s doctor. I was a little relieved to see a younger face because as a recent med school graduate, she most likely had access to newer resources. Incredibly kind and detail oriented, we began at the beginning- starting with pregnancy to Greyson’s birth.

Retelling the details of my pregnancy and Greyson’s birth always makes me sad because it takes me back to a time before seizure meds and aggression. But alas, we went through all the details and information we have been provided with over the past year and a half. Again as a crazy parent that brings all medical records to appointments, I was able to provide the MRI images from March 2018 and July 2018 and the reports from his previous 3 EEGs. As the images were uploading, the doctor consulted with another staff neurologist about Greyson’s genetic testing results and imaging. About 15 minutes later, both neurologists came back into the room and gave us their opinions.

The previous 3 neurologists that we have consulted with provided us with mixed answers about Greyson’s MRI results. The CHOP doctors however, believe that the amount of white matter showing on Greyson’s MRI is more than a minor brain injury at birth. Apparently most children born premature have a small amount of white matter that shows on an MRI, but it typically dissipates by the time they turn 1 year old. Greyson was not born premature and has a significant amount of white matter, so the doctors want to refer us to a white matter brain doctor in Philadelphia. The other information that the docs felt was important, was his genetic testing results. From my previous post, we know that we received mixed feedback about the gene variant G has inherited. The docs also would like us to consult with the genetics team in Philadelphia to help get more answers. We left the appointment feeling a little hopeful, but frustrated that we will have to travel to Philadelphia, especially since traveling far distances was the reason why we moved services to Lancaster. We return to see the neurologist again in August and will hopefully have appointments set up with the additional specialists in Philly by then too.

Saturday we participated in the Tommy Foundation’s edge of autism walk at Buchanan park in Lancaster. Hundreds of people were there to support a friend, family member or someone that they knew who is impacted by autism. It was a wonderful sight to see many familiar faces gathering to show support to the autism community, and it was fun to see many people out in their puzzle piece attire. Greyson was very overwhelmed by the crowd and threw a tantrum when we had him placed in the stroller to start the walk. Unfortunately, Greyson made it about a block before he began getting aggressive and more agitated, so derek took him back to the car until Roslynn, myself and team CADD finished the walk. The best part of the event was that the children could ride the carnival rides provided without access to the general public. Roslynn had a blast trying out some rides for the first time ever and it wasn’t a huge deal that the ride operator had to stop the ride whenever she was too scared. I also felt that it was one of the only times that I was not ashamed of bringing Greyson out in public. I wasn’t thinking about oyhers staring at us or whispering under their breath that we have a “problem child”. It really is amazing to see strangers gather together and support each other through an unexpected curve ball life has thrown at us. It’s a beautiful thing when I can get into my car to leave a public establishment and not cry because of my child.

Roslynn liked this ride the most!

The highlight of the entire weekend was shopping as a family at the Philadelphia premium outlets in Limerick, without tantrums. Greyson walked 90% of the entire trip and even lasted through 2 stores without a tantrum! This is the first time anything like this has ever happened and I am estatic that he was able to do it. Derek and I praised him so much along the way and he even clapped for himself once we got back to the car. Despite the fact that Greyson is hitting me between typing sentences, it’s the small successes that keep us going. Who knows, maybe next weekend we will try another public outing?!

40% vs 1%

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 with microcephaly-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:

    Severe Microcephaly (G does not have)
    Congenital Cutaneous Capillary Malformation (His Port-Wine stain)
    Infantile-onset epilepsy (He has)
    Profound developmental delays (He has)
    Whorled hair pattern (He has)
    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.

A B(e)acon of Hope

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.