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

Advertisements

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”

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.