My Clinical Trial Experience - Day 1

 Its been 4 1/2 years since my last Blog Post......

I started this Blog to post about my challenges of being a step parent, mother of a child diagnosed on the spectrum and just life. As life goes on things change, your priorities change and so do your problems i suppose.

Today I wanted to share my experience about being accepting into a clinical trial for ADPKD. If you know me well you know that i have PKD and PLD, Polycystic Kidney and Liver disease. One organ basically gave it to the other. This is a genetic disease that I got from my mother and she got from hers. I first found out that I had kidney disease at 18 when my mother got me tested. I was fine, healthy and no worries. Then life kind of changes. Your a teenager with a disease but there's nothing to do about it. My mother started to get sick is her late 30s into early 40s and I always told myself that I would be fine till I hit my 40s and to enjoy life. Well here I am at 42. Not on dialysis yet and not in kidney failure. Its tough going through life thinking that you will be sick when you get older and just waiting for it to happen. This past August we lost my mother to her 30 year battle with kidney disease. She suffered through 3 failed kidney transplants, about 30 surgeries and decades of main, BUT always had a positive attitude even on her last days.

For the past 2 years I have been looking into clinical trials for kidney disease. Without clinical trials drugs never get approved and help people, right? Well the first trial I tried to get into I got rejected because my kidneys were not "bad" enough. I was pretty disappointed and sulked for about a week until I started searching again. Then I came onto one in Denver that was for early stage ADPKD and applied. I received a call pretty quickly and within a month was approved! It all happened so quick. Flight booked and hotel booked immediately. I only had to pay for my own  food. Some clinical trials pay you for being in the study but at this point $$ did not matter, finding a cure does.

The drug is called Pravastatin and is actually a Phase 4 medication that is also used for people with high cholesterol. I was happy that it was Phase 4, so no one has died from the medication or had serious side effects. This study is also a double blind study which means you do not know if you are on a placebo or the drug till the conclusion on the study, which is 2 years. Some people who be so discouraged by this but without people taking the placebo clinical trials would not be approved or move onto the next phase. This study has shown to slow down the progression of cysts in the kidneys in young children which is pretty promising. So off to Denver I went.

I was pretty excited to go to Denver but the week before, my anxiety started to set in. While seeing my mother suffer for so many years and always thinking that it would be me one day its just a very surreal feeling. I don't believe my mother ever tried clinical trials but you always have to do as much as you can to survive. 

The people with the clinical trial were so nice, very committed to the cause. My first day in Denver was full of lots of paperwork and signing forms. I found out the the Department of Defense funding the trial due to the fact that anyone with PKD is discharged from the military or not approved, I found that pretty interesting. Also I found out that the University of Colorado Hospital also is conducting 4 different clinical trials on PKD. Its nice to know that there are doctors out there working their ass off to help those life me. 

The next day I had about 7 hours of testing done. I arrived for a urine test and received my first IV and went in to get an abdominal MRI. If you have ever this type of MRI you basically go into the machine with about 2 inches of space above you and hold your breathe for a very very long time multiple times. One of the times i had to hold my breathe for 40 seconds. Honestly that is a long time, you try, ill wait.............yes exhausting i know! This MRI technician was new to the PKD trials and asked a bunch of questions on my disease. At one point the clinical trial assistant told me that i had really huge organs and since my liver is so huge it pushes down on my kidneys which then push on my stomach. I'm like yep i know thats why i cant eat huge meals. (i miss hamburgers).

After the MRI I went to get a 5 hour blood test which test your GFR. This is your kidney function. I got another IV put in that injected some radioactive chemical in my body and had to take a pill so that my thyroid would not be effected. No big deal :) Then i had to have blood drawn in multiple time increments up to 5 hours along. 5 minutes, 10 minutes, 30 minutes etc. It actually wasn't as bad as it sounded. The one hardship for me was just looking down at my IV and remembering the countless times that I saw my mother with one. The multiple times they punctured her not being able to find her veins because they had become so tiny and hard to find. Being in this state frightens me to death but I am trying to be strong and positive. 

I went home the next day with my medication which i will take once a day for 2 years and my own blood pressure machine where i will have to check my blood pressure once a month and get blood tested every 6 weeks.

I often get asked will you get your kids tested. My answer is always no. Why put my kids through that pain of knowing there is something wrong. When they are 18 and they want to know of course I will support them. I never had any symptoms till I hit 40 with the large liver and both my liver and kidney function are perfect. Why open up that can of worms when there is no cure and NO preventative care you can take. That's my thought anyways.

I'm hoping this trial goes well and that these 2 years and painless. Ill update you on my journey and thank you for reading this VERY long post. Until next time!

Explaining Death to My 6 Year Old Aspie

While Dom was growing up, his whole 6 years, i would always avoid telling him about death, sadness and troubles. Partly because he was only a child and once you begin to address adult issues thats when their innocence is partly gone. Not only is Dom only 6 years old but he is also a 6 year old with Aspergers and i was never too sure how to explain to him these sad milestones.

About a week and a half ago a very dear and close friend to us lost their battle with brain cancer. Her name was Jasmine and she was a pure angel. I worked as Jasmine's one to one aide and through her battle with cancer our families got close and Dom played with both Jasmine and her younger brother. As Jasmine got sick I would mention to Dom that she did not feel well and couldnt play and he did not ask any questions. I also organized a fundraiser for Jasmine to raise money for medical bills and I called it a "party for Jasmine" and Dom did not ask any questions either.

When Jasmine passed i did not know how or when to explain this death to him. In her last few weeks her family moved across the country to California so i didnt have to mention it to him and he wouldnt have none any better. This past weekend the family of Jasmine were going to celebrate her life by releasing pink balloons and eating cupcakes in her honor and i just couldnt do the same, this is when I decided to tell Dom the truth.

As i sat Dom down to tell him about Jasmine, i was a ball of nerves. I held Dom's hand so that i could have his full attention and told him that i had very sad news for him. I told him that Jasmine got very sick with a disease and died. The look on Dom's face was very unforgettable. I could see that he was thinking and trying to wrap himself around what i just told him and then the questions began. How old was Jasmine? And i said 5. He then said, but she will never know her 1st grade teacher? I said no, she will not. He then said, but how can she die I thought only old people died. As he said this I knew that i had to pick my words very closely as to not scare Dom about being sick and dying himself. I told him that sometimes people die when they are old and sometimes people get diseases when they are young and cant get better. He asked me the question that I dreaded and said, will i die young too? I said that you are healthy and that you do not have anything wrong with your brain so you are fine.

I then mentioned that to celebrate Jasmine we were going to release pink balloons up in the sky to heaven. Dom then said i think that will make her smile, and i agreed. As the days passed Dom would randomly say how sad he is that Jasmine died and how he wishes that she didnt have to die. He even asked if the balloons we released in the sky reached heaven yet and i said Yes.

Right now I feel that Dom is handling Jasmine's death ok, i am not sure if he fully understands it, but i am trying to answer his questions and reassure him that its ok to ask questions and taking it one day at a time.

We miss Jasmine alot and hope that she is at peace, in heaven and eating many chocolate cupcakes with pink frosting while chasing her pink balloons!

4 Year Olds and Kindergarten Screenings

Hello,

Long time no post! This post is not going to be about my struggles and happiness about Dom but about his younger sister and my experience of her kindergarten screening........

I would like to start off by saying, yes Julia will be starting Kindergarten as a 4 year old. I am not one of those ignorant parents who just say sure i don't care what they say, your ready and you are going to school! I have struggled with this issue for the past two years. I went as far as taking her away from her friends at her previous preschool and signing her up in a preschool program where they have a UPK teacher that would focus on some academics to make sure she was ready. I would be in constant contact with her teachers to see how she behaved, how is she academically? how is she socially? can she problem solve? can she attend? does she speak up? You know everything a good parent or neurotic parent would do!

Her being a 4 year old in Kindergarten has been on my mind since she was practically born. Keep in mind I am also PTA President at her future school and I also thought, well what if everyone judges me for sending my little 4 year old to Kindergarten? Would they look down on me? Would they think i made the biggest mistake of my life. Ultimately i know that i shouldn't care what other people think but hey i am a bit neurotic, what can i say.

So, here brings me to her Kindergarten screening, which was this past week. I was pretty nervous about it, but i have been in this Elementary school for the past 11 years so i know practically everyone there so i was a bit excited about it. Julia goes in and i nervously just wait and see what they say and if everything that i have done for her in the past few years helped her to get ready for Kindergarten. As the teacher comes out, I stand up to greet her and she tells me to sit down. She does not smile, does not say hey you daughter is a very sweet little girl, or actually anything nice at all. She says to me that she is very very young to start Kindergarten, has a short attention span and that i should give her the gift of another year of preschool. She also says that if i send her she might end up hating school by November . As she is talking, i Just look at Julia and think I am the failure, I am making a mistake, maybe she will have ADHD just like her brother which is why she has a short attention span. Then the teacher walks away and i am just dumbfounded. My very special day with Julia is completely ruined and I am completely devastated.

I do realize that some teachers have their own agendas and how they totally dislike four years old in Kindergarten and I totally get it. I educated myself. Last year i joined the BCSD Kindergarten Entry Committee which we researched and decided not to move the Kindergarten entry date from December 1 to September 1. I learned that sending at 4 can affect  them socially more than academically, mostly in 2-3 grade and 6-8 grade. But i also learned that it really depends on the child. Is she ready for Kindergarten? Will it have a great affect on her socially? My daughter is pretty social and academically ready. I feel that i didn't do such a shitty job raising her and that i did everything that i could to get her ready for Kindergarten.

I also do realize that some 4 year olds are completely not ready for Kindergarten and do need academic interventions in school since they have never been to preschool before and have never had exposure to academics, but should all other 4 year olds be punished just because of these children who are not ready? Should parents feel like complete failures and feel that everything they are doing is wrong?

Anyway, these are just my thoughts, not every parent in the universe. I wanted and needed to write this blog just to educate others who might be in the same situation as me or as neurotic as me. Because simply neurotic parents make the best parents, right?

Another Chapter in Doms Medical Life

Here comes a moms story of frustrations and bs

Dom entered the world of autism aka Aspergers Syndrome back on 2008 when he was just 2 years old. We suffered and started therapies and all the fun that went along with it. We got used to the way life was and just chugged through.

Six years later Julia was born and so was the diagnosis of ADHD for Dom. He went through 4 different ADHD cocktails until we found the right one for us, which we still deal with on a day to day basis. ADHD is a blast btw!

One year after that we realized that Dom wasnt growing and he got diagnosed with Hypothyroidism, and now we entered another medication in my poor boys body. They said that he would start growing within 3-6 months and well that never happened either.

Here we are in 2015, almost 2016 and we have a brand new exciting diagnosis of Growth Hormone Deficiency. After several blood tests, a stay at Alb Med and a thrilling MRI which Dom was awake for over an hour we find out that we can fix his height with daily shots until he is 16!

I do realize that there are far worse things in this world than all of these medications, but is it so much to ask for a normal 9 year old's life without the medications, therapies, processing issues, hyperactivity issues and growth issues? Well I guess maybe not. Here's to a new year, a new medication and finding normalhood!!

Complicated LIfe Gets More Complicated

Disclaimer: I would like to apologize to anyone reading this who has suffered loss or has it harder than me, this is a place where I just need to vent

As many of you know out there this past year has not been a fabulous one for my dear Dom. With dealing with his Aspergers, ADHD, hypothyroidism and problems fighting for his rights to stay at the school he loves we suffered or are suffering with another blow. We have been very concerned about Dom's height, he has been on thyroid meds for the past 10 months but it hasn't been helping. He is not even 4 feet tall and is 9 years old. I contacted his endocrinologist to see what is going on. A blood test and xray later we find out that he MIGHT have growth hormone deficiency. We need to go through a 3 hour iv test in the next few weeks to determine this. But as I google and see what it involves, I would have to inject my poor boy with growth hormones every day until he is 16 years old! Ugh, the idea of this just causes my anxiety to rise and just makes me angry. Why does a sweet 9 year old always have to have the short end of the stick. Anyone who knows Dom knows how sweet and empathetic he is. He cares for his friends and family dearly but always has to deal with fighting for normalcy. Why cant he just have a "normal" childhood and deal with "normal" issues.

As I sit here I am just filled with anger and questions as to why why why. I am hoping we have definite answers soon and that Dom can grow and not have to justify his growth to his friends saying I have a problem with my thyroid over and over again.

Bring on the DRAMA

Most of you already know that my Dom was diagnosed with Aspergers Syndrome when he was 2 years old. When a parent hears this diagnosis you either accept the diagnosis, are against it, in denial or in the acceptance/denial stage. For about most of Dom's life i was in the acceptance/denial stage. 

Yes i realize that this is something that Dom has and will live with but that my child can do anything that other children do! We got through preschool and kindergarten and through about half of his elementary years. Academically he did ok and socially he has friends which is great for any aspie and also great for the mom who is constantly in denial by her little sunshine's disability. But by going through the years this mom was always sad to see his friends being achievers in sports and clubs and my son having to struggle or not really giving a sh&*. We tried sports and well he didn't really care for them or excel at it. We even tried karate but well he didn't really care for that either. The sensei would yell at the kids to do their kata and well Dom always did it on "Dom time", which really meant s-l-o-w-l-y, so he basically got yelled at the whole 45 minutes each week. We also did art classes which he did and kind of enjoyed but he isn't a Picasso by any means.

This past year we were asked by a friend to try a drama class by Drama Kids. At first i was like, ok, here we go, another class that i need to drag Dom to where he will be "ok" at. After his first class i asked Dom what he thought and he said, it was AMAZING, i had so much fun!!! So I immediately signed him up and we tried it out. This program is phenomenal for us and for Dom. It gave Dom self confidence, made him comfortable enough to be his true self and made him happy. Throughout the next 7 months or so Dom started acting in class and then here we were at the end of the year performance at the EGG in Albany. I was a nervous wreck! What if he froze? What if he forgot his lines? What if he cried because he forgot his lines? 

Well boy was i wrong! Dom did not forget his lines, he was funny and adorable and happy. That whole day we saw a Dom that we hadn't seen in a while. He was genuinely happy, stress free and confident. It filled my heart with so much happiness that i couldn't even sit still for one minute. This is the Dom that i have always wanted to peek out and i owe it all to Drama Kids. Cant wait for next year to be here already!!

One year later and doing alright i think

Life has gotten very busy in the past year and I have been neglected my wonderful blog which was a great outlet for me when I was struggling with life.

In the past year, we survived Kindergarten (more later), survived the first year of college and HS for my two older ones and got pregnant:) Baby girl coming in 8 weeks!

As Kindergarten started last year I was a nervous wreck. Here was my little preschooler leaving a nice integrated class and entering a class of 20 typical peers. As the year progressed we watched Dom learn, make friends and have a good year but not a great one. His anxieties that we saw in preschool were still apparent in Kindergarten. It took Dom 5 months to have the courage to even say "hi" to his kindergarten teacher. Keep in mind that his teacher was the sweetest, nicest looking person that I have met and could relate to but to Dom he felt very nervous about talking to her and it took about 8 months for him to have a back and forth communication with him. Dom also struggled in groups while talking to other children. As a concerned mother I had Dom evaluated to see if he qualified for additional services for 1st grade, which he did. When we finally got the results back and were able to have a meeting in July it was determined that his services were doubled, added special ed again which was taken away in Kindergarten and added his one one to one aide.

As our first summer began without a 6 week integrated program (21 hours a week) as we were used to in preschool I developed a crazy therapy schedule for Dom. He received speech and social work through the school district 2x a week for 6 weeks and then i also signed him up for social work through a friendship group which met once a week for an hour for 9 weeks, a social work camp through a local college which met 15 hrs for a week and then signed him up for an astronaut camp for 2 weeks. This schedule might sound nutty but it worked for Dom and gave him a great start for a new year of school after  along 10 week break.

As 1st grade began this year we were very optimistic that this would be a great year for Dom. And so far it has been, Dom comes home 100% less anxious and very happy. I know it is early to see how he is doing but he is actually talking to his teacher and communicating to his other therapists which include speech, ot, social work and special ed.

Socially typical Aspergers children dont have many friends or just have 1. This year Dom only feel comfortable playing with one child at recess and sits with him on the bus. This is great for Dom, but I always worry"what if" this boy is sick and not at school then what does Dom do. I asked Dom what do you do when the boy is not there "i just play with myself". My heart breaks hearing these things from Dom but he doesnt have the skills or confidence to make new friends yet or go and ask different kids to play with him. Hopefully with all of the services this year Dom will gain more confidence in himself and be able to approach other kids and play with them, be happy and make new relationships.