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”

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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.

The Tooth Fairy

For the past 2 months or so, Greyson’s insurance company has been bugging me to take him for his first dental appointment. Coincidentally, I’ve been avoiding taking him for the past 2 years or so. With the amount of specialists we see on a regular basis, I really neglected his “typical” appointments. I finally bit the bullet and scheduled an appointment with a local pediatric dentist. I had a tough time finding a pediatric dentist that accepted G’s insurance, but I finally found one that did, and they were accepting new patients. Score. Unfortunately, I did not read reviews online of this particular practice before our first appointment today.

Now, I am not one to “bash” an establishment, particularly because all practices are different and people have different opinions. So, for the sake of respecting those that enjoy this particular practice, I won’t disclose the name of the group.

Now, if you’ve been reading my blog over the past several months, you know that G is not the type of child that can sit and wait. Our appointment began at 3:30 pm today, so I met Derek there with the kids. I purposely completed the new patient paperwork from the practice’s website and faxed them over in advance, so we could arrive right at the appointment time, rather than 30 mins early, as requested. I did this because I knew that there was no way this kid was going to stay quiet and sitting in one place for 30 minutes. The receptionist confirmed that she had the documents when I received the reminder phone call, and stated that arriving at 3:30 pm was fine. I never really thought that I had to anticipate arrival times and waiting rooms until G came along (and became mobile).

We arrived around 3:20 pm and checked in. Fully expecting to have a quick in and out visit, we didn’t bring a diaper bag (stupid on our part). Now, it was a pediatric office, so luckily he was occupied with toys and books that were available. 3:30 pm came and went and Derek and G were still waiting to be taken back (I took Roslynn home because Duke had to go out and she was getting restless). 3:45, 3:50, 4:00 passed and still, waiting (and running) around the waiting room. Derek was exhausted from running after G, and G was tired of waiting…. and rightfully so.

Waiting to be taken back

Finally at 4:25 pm, they were taken back. After sending several angry texts to Derek about the wait, he informed me that he was taking Greyson back, just as he was going to walk out the door from the ridiculously long wait. I thought to myself, “Geez, if our office made an autistic child wait for over an hour and a half (this includes the time waiting in the exam room for a hygienist), we would have zero clients.” Thankfully Greyson was fairly well behaved and Derek didn’t have too much of a panic attack from chasing him all over. Once the hygienist and dentist came into the exam room, they did a check very quickly in his mouth and BRUSHED HIS TEETH. No, they did not clean his teeth. No they did not polish his teeth. No they did not do x-rays or take any photos of his teeth.

THEY BRUSHED HIS TEETH

Avoiding the chair

Now, again, I do not want to bad mouth another practice, but oh my word. I could have brushed G’s teeth at home for free and without the 2 hour wait! When Derek checked G in, he was told to make a follow-up appointment immediately, before he was even seen. Derek made the appointment for early September, but after the impression we had today (and reading online reviews), we unfortunately will be starting our search again for a pediatric dentist. In an easy world, we would just take him to our family dentist office, but because of his behaviors and lack of patience, we need an office that will sedate him for cleanings. So if you have any suggestions for us, we are all ears for local children’s dentistry offices!

I hope the next few weeks will be anticlimactic. Our next big appointment is on March 27th, when we go back to Baltimore for our final (hopefully) appointment with Dr. Comi and the genetic specialist. As for now, we will take our little man to our own office in the upstairs bathroom, and brush his teeth ourselves….with no wait.

Magic (Greyson) Mike

An evening ritual at the Martin house

Greyson is going to love overalls. At least he better, because he’s going to be wearing them round the clock soon. For about a month now, we have had our evening Magic Mike show, featuring Greyson Michael Martin.

It’s the same routine- come home, change his diaper, eat dinner, watch a show or the news before Jeopardy, then BOOM, strip show. Typically G likes to take off all of his clothes, starting with the shoes and socks. He loathes clothing, especially anything on his feet. Cat & Jack (from Target) is a tag-free clothing line, so we try to stick with that brand to make him the most comfortable possible.

The downside of living with “Magic Mike” himself, is the consequences that come with a naked toddler with ASD and Pica. For those of you that have never heard of Pica, it is defined as:

Craving and chewing substances that have no nutritional value, such as ice, clay, soil, or paper.

Pica is not limited to just the items listed above, it also includes feces, which is our current predicament. I think G realizes that it’s gross after he eats his 💩, but he can’t help but eat it. Derek and I try to change him as soon as we realize (or smell) it, but we aren’t quick enough. Seeing as he apparently only does this at home (for now), I think we may continue to give it a few more months with behavior modification until we raise the concern with a doctor.

Meltdowns are also still part of our nightly rituals, along with a migraine a few times a week. The neurologist wants us to avoid using pain relievers for him, so we started using Gatorade to replace the medicine. So far it seems to work, but I wonder how many bottles of Gatorade we will go through before Magic Mike needs an increase in his medications.

I am so incredibly blessed with a wonderful husband and partner to parent this child, because I could never do it alone. Derek really knows how to calm Greyson and I swear he can read his mind. Since he was a baby, Greyson has been a daddy’s boy. Obviously something is working because Derek walks into a room, and G is automatically happy. It’s really cute.

The latest update on mission “diagnosis” is waiting, again. 440 days into the search and I often feel like we will never find an answer. Especially waiting for the results from the full genetic testing has done nothing but test my patience. I have never been a patient person and nearly throw ahissy fit” when I have to wait for my iPhone to turn restart. Truth be told, I’m not even sure what the genetic testing results will even tell us. We know that epilepsy apparently runs on my dad’s side of the family, but genetic or not, we can’t change our genetic makeup. I’m still not convinced that we will ever find an answer and honestly, I’m becoming more okay with the idea of never knowing.

If there is something that the past 440 days have taught me, it’s that nothing happens quickly in the medical field, and the unknown isn’t the worst thing ever.

“2018: The Terrible, Horrible, No Good, Very Bad Year”

One of my favorite childhood books growing up, was Alexander and the Terrible, Horrible, No Good, Very Bad Day by Judith Viorst. The book (which was later adapted into a movie in 2014) revolved around a little ginger kid named Alexander that was having a pretty crappy day. I would force my mother into reading the book to me during our weekly trip to the Lancaster City library, and despite having read it to me several times, she always obliged. I used to believe that Alexander had a terrible, horrible, really bad day everyday, and that his day couldn’t get any worse. I also used to think I was just like Alexander whenever I was having a bad day…..pretty dramatic for a 5 year-old. And I wonder where Roslynn gets it from.

My 2018 was basically Alexander’s one crappy day on repeat for 365 days, messy red hair and all. Not to be a huge debbie-downer because I had some good times in 2018, but I am not sorry to see it go. As most typically do on December 31st every year, I woke up reflecting upon my year. Reminiscing on 2018 is something I’d like to skip, but all bad things generate a life lesson of some sort. Through my struggles with Greyson over the past year, I have realized that I will never change the past, nor would I want to. His tantrums, inability to communicate verbally and medical issues have only taught me patience and self-advocacy skills for myself and my child. And although it’s taken me 2 1/2 years to feel it, I am finally feeling a connection with Greyson. I melt a little whenever he says “Mamamamamama” on repeat when he wants something.

In terms of advocacy, I was always so afraid of what others thought of us, even dating back to one of my first few blog posts. I was terrified to take Greyson out in public because of the way others perceived me as a parent. 2018 taught me that I can’t control these situations and that I have to let them go. If people judge or stare at Derek and I while we ignore our child’s tantrum, so be it. If people roll their eyes because we have a backpack harness on G, I am happy to tell them the truth- we are working on him walking independently and without eloping from us. I was that parent that didn’t believe in leashes for their kids, but with all the crazies out there snatching up kids, the harness is a safety necessity out in public. Another plus is that G really does enjoy walking and having us not carry him all over the place. Also, I no longer feel afraid to take him out after a laser treatment, terrified of what others may think about his bruises and what remains of his Port-Wine Stain.

Bruises from his treatment done on 12/28/2018

Aside from our journey with Greyson, 2018 has taught me to never take a day for granted, including seeing friends and family members. My family has had a fair share of losses this year, more in the past 7 months than in my entire (almost) 30 years. My grandpa was my biggest fan. He always toted himself around Lancaster, so he could be at my recitals, opera performances and musicals. When we lost him in May, I was devastated. Singing his funeral mass was one of the hardest things I have ever had to do, but it really would have been a dishonor to not give him one final performance to say goodbye. Seven months later and not a day goes by that I still don’t think about him at some point, especially when I’m in the car and Sinatra’s “My Way” comes on the radio.

Seven days after my grandfather’s passing, we lost Aunt Carolyn, my grandfather’s sister. My aunt lived in New Jersey/Florida and most of our communication was via email or Facebook as I got older. “AC” as many family members called her, was always at our large family functions, bringing her fabulous outfits, hair and Jersey accent to Pennsylvania for baby showers, weddings, graduation parties, etc. She always wanted to take jazz piano lessons with Derek via Skype and her love for music also connected us in a special way.

A friend of mine also passed away towards the end of 2018, from a heroin overdose. This friend sang in our church choir and was working diligently on becoming sober when he and I last spoke. This friend’s loss especially hit me hard because he was so young, talented and had an entire life ahead of him. I wish I could see my friend one last time to tell him how much he really mattered to me and many people among the Lancaster area.

Finally, my Uncle Glenn passed away on December 22nd after a long battle with colon cancer. Uncle Glenn always spent Christmas Eve with us and other holidays/birthday parties as of recently. Each Christmas we would do our small gift exchange, which typically involved me giving him a Christmas card with $10-20 worth of PA lottery scratch offs in it. Until I was about 24 year old, Uncle Glenn would give me a different board game for Christmas. First it started out as Chinese checkers (which I had no idea how to play), puzzles, chess and dominoes to card games and “older/harder” logic games. Some years, I would receive the same exact game consecutively. The joys of having siblings meant that I could switch my repeated game with one of my other sisters, who also may have receive a duplicate. As I got older and Glenn finally realized who I was (there are 5 girls in our immediate family after all) and that I was moved out and married, he started giving upgraded gifts: candles, rock gardens, mini fountains and LED candles for my Christmas decorations. Christmas was his favorite time of year and though he didn’t have to get me and my sisters anything, he always had gifts wrapped, with our names (and our kids as we started having them) on each gift. I will miss him the most at Christmas and will miss seeing him walking around Lancaster as I drive home on 999.

With the losses over the year and the hurdles we have jumped over for a clear diagnosis for Greyson, I learned that I can’t take a single day for granted. I may be having my “Alexander” day and think a tough day is the hardest ever, but people aren’t around forever and our kids will never be this small ever again. Live in the moment and make it the best life possible.

With about an hour-and-a-half left in the most terrible, horrible, no good, very bad year, I continue to contemplate my 2019 resolutions. I typically try to set small goals for myself, but I truly believe that this year, I am going forward into 2019 with no resolutions, no reservations and no expectations. I am going to live each day to its full potential, surrounding my beautiful babies, amazingly supportive husband and close-knit family with gratitude and love.

I will close out my final post of 2018 with a few of my favorite photos from 2018. Happy New Year to all of my friends, family and those that read my blog and support me and my family through our daily challenges.

Daddy and G

Rozzie at Christmas brunch with Santa

Greyson eating with a fork!

Artsy B&W of our boy and his birthmark

Roslynn stealing the show at her 3rd bday party

Buzz PJs

Greyson’s first big boy haircut!

Ready for some snow

Our first attempt at an MRI @ Dupont Hospital

Is that genetic?

I feel as though not much has happened since my last post, but thinking back to November 4th, lots of stuff has happened. Derek has just completed his first two classes of his ABA certificate with a 4.0 GPA and I am still addicted to caffeine.

Greyson had a reevaluation in late November for his early intervention services and it was reported that he is functioning at the level of a ten-month-old baby. Imagine having a ten-month-old baby that is mobile….and has just about all of his teeth. Yikes.

It was recommended that we continue his current services until the spring, when we will begin the transition into the IU-13 preschool, particularly the Verbal Behavior (VB) classroom. We were also seen for a post-EEG appointment with Dr. Stein (the local neurologist), and he increased Greyson’s meds and added Cipro, an antihistamine proven to reduce migraine headaches. Until recently, I felt as though the medications prescribed were really helping. Now I can’t tell if the meds need adjusted again or if Greyson is just being difficult in general. Even as I write this, he has just been given his meds and a dose of melatonin. He put Derek and I through a hunger strike due to (what we think) is a sensory issue and has had a regression in his sleep. Greyson not sleeping means us not sleeping.

We saw Dr. Comi in November, which prompted an appointment with a neurogenetic specialist. We had this appointment today in Baltimore at the Kennedy Krieger Institute. After going over family history, questions and concerns, Derek and I had a DNA sample taken via two cheek swabs. Greyson had blood drawn to compare and contrast the chromosomal makeup and genetic map for some more possible answers into his brain issues.

Currently the things we DO know are:

1. Greyson has autism

2. Greyson is currently characterized as being “nonverbal”

3. He has a white matter brain disease

4. He has epilepsy, primarily impacting him while he’s asleep

5. His previous genetic testing (snippet array) showed no abnormalities, but the testing was part of a research study and may not be totally accurate

6. He tested negative for fragile X syndrome

Things we still do not know, but are hoping to have answers to are:

1. What is the underlying cause of Greyson’s autism

2. What are the chances of him being verbal someday

3. What caused the brain disease

4. How do we cure the brain disease

5. What can we do now to help Greyson in the future

We have been searching for the answers to our questions for 407 days and unfortunately do not see them being answered for awhile yet. We have therapies and services in place for G and we have seen him grow a bit since starting them last year, but I still can’t help but feel as though we are still missing something.

My first question to the genetic specialist was “what will this testing show us that we don’t already know? And how will it impact us as a family?” Of course every case is different, but currently there is a 40% chance of the lab finding an issue with Greyson’s genes. If they would find something, Roslynn potentially would be tested as well to see if she inherited anything from Derek or I. Still, that means that there are still more cases in which the doctors don’t find anything, opposed to when they do find something. Makes being optimistic kinda hard, though we will go through with the testing. Derek and I have both discussed this and have agreed that this will be the last round of genetic testing that we will put G and ourselves through. If the results are inconclusive, we will wait a few years and proceed with finding answers.

We also realized that we may never have the answers to our questions. We may never know why Greyson has so many delays and abnormal MRIs and EEGs. Though we would love to have answers so we can better prepare him and ourselves for his future, realistically we must realize that it could potentially never happen. For now, my New Year’s resolution is to stop living in the past and to stop dwelling on our future. There is nothing we could or would have done differently during pregnancy that would have changed the outcomes and we don’t know what the future holds. We don’t know what medicine and science will look like tomorrow, let alone 10+ years from now, so we must stop dreading it and hiding Greyson from the world.

So, as we close another year, perhaps the most difficult year of my 29 years thus far, we will not look at this time and wish we could change the past. We will live for today and celebrate the little things in life, especially Greyson’s smallest successes.

Ps- Derek might kill me for posting this, but look how happy G looks. Melts my ❤️.