Welcome to Holland

This past week I totally played hooky! I got on a plane and flew to London with just my husband. For six glorious days I didn't once hear, "Mommy, I Need ______ (fill in the blank)." Steve was in London for work so I literally spent hours with just the thoughts in my head. So dangerous, I know! Honestly, before getting on the plane I was afraid that the thoughts would turn against me and not let me enjoy this once in a lifetime experience. I wanted so badly to just forget about the past few months, soak up this brand new place, and simply remember who Mitzi (not mom) truly is...

London Calling!

I believe it is safe to say that more tears were shed the week after Jack's diagnosis then I have ever shed before in my life. Always waiting for night to fall so that my precious little bugs wouldn't know that mommy was sad. What would become of them and their lives? Not just what will Jack's life look like, but how will having a sibling with Fragile X affect Nolan and Neva? I know, just by watching them with Jack, even before the diagnosis, that they would continue to be two very compassionate people. An amazing trait to have. But what else? Would they ever feel restricted? Left out? Would kids not want to play with them because of who their brother was…and how would they react to that? Would they resent him? Every night these awful questions would flood my head. I would try to push them aside and tell myself to focus on tomorrow. Just worry about tomorrow. One day at a time. Then the absolute worse thought enters. It's definitely still there….lingering…just waiting for me to remember hundreds of times throughout the day. This is because of you. You passed this on to him. You did this.
Its a guilt that I think will never go away. You see knowledge is power, and I am so happy that we know what it is that has taken hold of our Jack. But knowledge can also be horribly shocking. I am a Fragile X carrier. And women who are Fragile X carriers have a 50/50 chance of passing on the mutation to each of their children. Although I had no idea that I was even a carrier, it is true when I say that it is because of me that he has Fragile X.

Okay, well, that was intense. And that is basically how my grieving period went. Intense but short. Don't get me wrong, I still cry from time to time but I was ready to make sh*t happen with Jack after about a week into his diagnosis. We were going to take this bull by the horns!


We switched neurologists and had him begin this intensive 12 week developmental "bootcamp" called Pediatric Minds which was created by Dr. Hannauer. His new Neurologist.  I know how lucky we are that Jack is verbal, a lot of Fragile X kids are not. But he definitely could not communicate well. His words were limited and worse was the context in which he used those words.

"observations" were helpful, but tough!

       

Jack and his amazing teacher Celi
working through a tantrum.

Conquering the tantrum!

After completing the bootcamp (which he graduated the morning before we flew to London…friggin amazing day!) he can say well over 100 words and is putting them into 3-4 word sentences! He asks for help when he needs, he verbally makes requests and from time to time when I tell him I love him, he will respond with "I love you mommy!!!" My heart literally melted the first time I heard that!

Jack on Graduation Day with his Wita

At this moment, life is really good. Its not always easy, but it is good (I am not just saying that because all the kids are asleep and I am enjoying the quiet while sipping a glass of Chardonnay)! And you will all be happy to know that the demons did not enter my thoughts once while in London. I thoroughly enjoyed my time there. Huge shot out to Wita (my sweet mama) for watching the minions for 6 days. Gracias mami!

When I first entered this crazy special needs word the poem below was given to me. I read it but it never really resonated with me until receiving Jack's diagnosis. I hope it helps give you a glimpse into the world that was once completely unknown to me….XoXo

WELCOME TO HOLLAND

by
Emily Perl Kingsley.

c1987 by Emily Perl Kingsley. All rights reserved
I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......
When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."
"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."
But there's been a change in the flight plan. They've landed in Holland and there you must stay.
The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."
And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.
But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

Putting the X in XoXo

Steve and I were convinced that something more than just low tone was going on with Jack. When I would bring the subject up to his doctors, they would all tell me to wait…that time would tell. Oh sure, yeah, okay. I'll just wait out the tantrums and the anxiety. No biggie. Thanks. 

The only people that seemed to listen and agree with us were his therapists at Leaps and Bounds. They never directly asked us to do additional digging, but, in a very gentle manner, would ask if he had had genetic testing done. We didn't do any because, well, the professionals said we didn't need to. But right about this time, I really started to trust the people that spent 9 hours a week with him over the professionals that saw him maybe every 3-6 months for 10 minutes. So began the genetic testing process. It's just one little blood test.  Easy, right? Well, one would think that it would be easy, but I guess the fact that the people that could actually issue the order didn't think he needed it made it a little bit more tricky. The pediatrician recommend that I go through the neurologist. Okay, so I called the neurologist's office and I honestly could not believe all the push back I was getting from her nurse. "The doctor hasn't requested it," "it could cost thousands of dollars", "insurance won't cover it", "do you even know what type of test you want?" Seriously, lady! I could not believe this. I told her that I didn't care how much it would cost. I wanted the test done. He was my kid. I want the friggin TEST! And then the real hurdles came. The doctor would have to approve and request the test. Then insurance would have to approve it, and, THEN, they would send me to the lab to get his blood work done. You would think the entire process would take about a week, right? Wrong again. I am not going to bore you with the details of the endless hours I spent on the phone with this obnoxious nurse and the rest of the staff at the neurologist's office (21 days worth), but it all turned out to be absolutely unnecessary. In the end she admitted to me that all I needed to do was to take the doctor's order to the lab and that was it! No approval needed - nothing. More than 504 hours spent thinking and worrying about this ridiculous office and how to make them hurry up the process.   

On February 21, 2014, Jack's blood was drawn (super fun times) and sent into Quest diagnostics for analysis. He had two tests done. One for general genetic defects and the other to test specifically for Fragile X Syndrome. When I had mentioned to the doctors and therapist about his "panic attacks" this syndrome was thrown into the ring of conversation. I had no idea what it was and quickly did a Google search. You know how people tell you not to Google things because you will end up thinking some scratch on your arm is a flesh eating bacteria? Yeah, I really shouldn't have Googled it (side bar - the nurses at this fabulous neurologist's office could not answer any of my questions about the tests and actually told me TO Google it…Jack no longer goes there), but I did.  Fragile X - leading cause of mental disability and autism, sensory processing disorders, ADD, ADHD, extreme anxiety…the list goes on…Steve and I were officially freaked out.

On March 6, we got the results for the Micro Ray Chromosomal Test (the general genetic defect test) and everything came out normal…huge sigh of relief. One down, one to go!

March 14, the day before my birthday, was a Friday, so, as usual, we were heading over to our Friday play date. As I was driving to my friend Eve's house, I received a text from Steve. It read, "We have a meeting with Dr. Dyes on Monday at 3pm. Fragile X results in but Dr is only one who can interpret them and will do that on Monday morning." What? I tried to call him back to get the details but he was at work and I couldn't get a hold of him. I called my brother and just lost it…..how could they have the test and not tell us what it said. Why on earth would you tell us that you HAD the test?!? I had to call the office. I waited until the kids were all settled at Eve's and gave the ladies the low down. They were amazing and all told me to get on that phone and figure this thing out. I called the nurse and asked her if she had the results…she said she did, but that we would have to wait until Monday. "That is completely unacceptable. I need those results now." "Can't do it" she said, "what's three more days?" THREE MORE DAYS! What the hell was wrong with her?! I lost it. I started shaking; I started screaming into the phone telling her the hell that she had put me through the last 2 months! 2 months! 2 months I had been calm and cool, when I knew that I was going above and beyond to be patient and could have easily ripped her head off. But I hadn't, not until now. Enough was enough. "You will give me those results today and that is final. Do whatever the hell you have to do…just do it. Take a friggin picture of the results and text them to me. Fax them to my pediatrician if you need someone educated, unlike yourself, to read them. I realize that the neurologist could care less about my son and that he is just another number to you all…but I care. His pediatrician will care. How on earth could you be so cold?"

She told me that she would try and contact the neurologist and see what she could do. It was 4:30pm. The office closes at 5pm. I told her that if I didn't here back from her in 15 minutes, I would call back…Guess what? No call back. I was determined and would not take no for an answer, so I called back. She kept me on hold until 4:58pm and then answered the phone to tell me that she had faxed the results to the pediatrician but that her office was probably closed…thanks so very much you horrible, horrible woman. 

I quickly dialed Dr. Rowe's office, and sure enough the office was closed.  But I dialed 0 to reach the doctor on call and just prayed that someone in the office would hear my frantic message and call me back. 5:20pm…I got the call. I knew it without her having to say a word. I knew it, but I just had to hear it. "Mitzi, I wish I could tell you this in person, but I couldn't let you wait. The test is positive. Jack has Fragile X Syndrome." My heart was pounding and once again thousands of tears streamed down my cheeks. In an instant, I felt a strange relief - finally an answer. But, oh the pain. I didn't know what to say except, "Thank you. Thank you for calling me and telling me." She mentioned a million things: support groups, websites, research, the fact that he had the full mutation. I heard it all, but not really. I could only say, "Thank you"….and then I wept again….

 With that, our journey as a Fragile X family had begun. 

I am writing this now because July is Fragile X awareness month.  I know most of you have never heard of Fragile X before (we certainly hadn't), but I hope you keep reading our story to learn more about Fragile X and how Jack is showing us the true meaning of XoXo….

 

Knowing is half the Battle

J&N's first day at Leaps and Bounds

I can't even begin to describe how incredibly excited I was for September. School was beginning and with it I would be acquiring 3 kid free hours, three days a week. 3 FREE HOURS! Soooo...I had failed to calculate the commute time and all of the parent volunteer hours so my exciting 3 hours soon whittled down to 1. 1 GLORIOUS KID FREE HOUR! I will take that hour and do marvelous things with it like grocery shop, or take in the dry cleaning without 3 screaming children. Pure bliss.

Nolan's first day at AMP

The school year began and we all got into our groove. Nolan was following in his parent's footsteps and going to the local catholic preschool. A magical place, filled with love and warmth, called American Martyrs Preschool. The moment I met the director, Miss Jeanie, no other preschool stood a chance. She reminded me so much of my dear Yayita and of my sister in law's mom, Lois. A very wise, no nonsense kind of woman with a gentle soul. I knew instantly that this place was perfect for Nolan.

Jack during OT at Leaps! 

Jack was still a bit delayed so we decided to enroll him and Neva (they took her as a peer model) into an early intervention program called Leaps and Bounds.  This is where my beef with Harbor Regional Center and the "system" starts because had it not been for my friend Sara randomly contacting me via Facebook and telling me about this school, I would have never heard about it. It was the perfect place for Jack. They offered all of the therapies he needed and conducted them in a traditional preschool setting. I wouldn't have to spend every spare minute schlepping him from occupational therapy to speech and then to physical therapy, day in and day out. It was basically like an all inclusive resort. Well, no not really, but kind of. Why on earth would Harbor Regional not tell me about this place? Thank God for Sara.

Right after Jack had the tubes put into his ears we made the rounds with all sorts of different doctors and therapists. Ophthalmologists, Physiologists, Neurologists, Oh my. All came to the same conclusion; Jack had benign congenital hypotonia. Congenital hypotonia is basically just low tone that everyone believed he would out grow. The neurologist was even kind enough to give us a timeline. According to her, he would catch up to his peers no later then his fifth birthday.  Every 3 months we would go back to the neurologist, she would take 2 minutes to look at him and tell us that he looked great. No further test, no further questions. Another 3 months would pass and we would hear the same. Frankly, it was music to my ears. What mother doesn't want to hear a brain specialist say that their son is total fine, just a little delayed? And knowing that in five years or less he would catch up made this teeny tiny pill so much easier to swallow. This went on for a year. In January of 2014 I stopped believing her.

Shuffle Board was played
at the party!

She got me to smile!

On January 18, 2014 we drove up to Thousand Oaks, CA to celebrate my wonderful brother in law Chris' 40th birthday. The place was packed with familiar faces. Friends and family had come from all over to celebrate Chris. I am not sure if it was the amount of people, the noise or what. But the moment we set foot in the restaurant a flip switched in Jack. He immediately started thrashing, screaming, crying, and clawing at me. He needed to get out, get away, I could see it in his eyes. But where? What do I do? Is he just hungry? Is he sleepy? Does he have an ear infection? (all the moms out there know about running the laundry list of "could it be's" when the kids act out). We gave him some food and he stopped for a bit while he stuffed his face with mozzarella sticks, but almost immediately started up again. Wreathing his body so I could barely keep a hold on him. I could feel the sweat dripping down my back…why the hell did I decide to wear a sweater? I took him outside to the patio and he was able to calm down a little bit. Outside he still seemed a little anxious, but at least we were out of the public eye. I was devastated and frankly a bit humiliated.  I know that I should not have felt that way but I was so proud of having such well behaved kids. So stupid, I know but I was embarrassed. He was making such a scene, this wasn't my Jack. Was he having a panic attack? Do toddlers have panic attacks? I was a pro at dealing with toddler tantrums, but this was a whole other beast. I tried to do whatever I could to distract him. I tried singing, playing with rocks, leaves, whatever I could find. After nearly 2 hours of this we threw in the towel. The kids fell asleep on the car ride home and all was back to normal in the morning. Maybe it was just a one time thing.

The next Friday I loaded up all the kids in the car and headed over to my friend Susan's house for our weekly play date. This play date is often the sole reason I make it through the week alive!  I don't care if I have to wake 3 sleeping babies to get there, we never miss it! These 9 women (and our 19 kids) are my family in a place where I have none. We can count on each other, we vent to each other and most importantly we laugh with each other. Because there really is no better way to go through this crazy motherhood thing then with humor.
Okay so anyway, Susan's house was obviously a place that the kids were very familiar with. But for some reason the moment we walked through her door, that same switch that we had seen the weekend before flipped on in Jack. He immediately started to throw himself on the floor, then pick himself up and run right into me hitting, screaming, biting. I didn't know what to do. I asked Nolan and Neva if we could just go, but they were having so much fun. I felt so guilty taking them away from their friends when we had just arrived. I thought that maybe he would warm up to the situation so I waited. I tried to feed him, soothe him…nothing worked. My heart was literally going to pound right out of my chest. I'm not sure if it was because of the humiliation or the anxiety of not knowing what was wrong with my child. I took him into Susan's room and sat in one of her daughter's over sized pottery barn chairs and rocked him with all my might. His little body responded well to the pressure and he calmed. My body went numb and I felt this overwhelming wave of hopelessness come over me. Tears were streaming down my face as I held my son tight, rocking him as hard as I could. I knew then. Something was definitely not right.

The following Monday I called all of his doctors and told every one of his therapists what had happened. I needed answers. Why was this happening? Jack is such a social little guy. He connects so well with people (when he isn't having a panic attack or whatever this was). I knew in my gut that he wasn't autistic. All of his doctors and therapist agreed. Jack was not autistic.
So what then? What on earth could this be?

My Happy Jack