Sunday, August 17, 2014

Some Very Exciting News

I have some very exciting news to share with all of you this morning. Over the past several months, myself along with Giovanni’s therapists and physicians, have been trying to figure out the best way to meet many of his complex needs while helping him reach his fullest potential. We were introduced to an amazing organization out in Ohio called 4 Paws for Ability. They are a nonprofit whose mission is to place quality service dogs with children with disabilities. Each and every dog is specifically trained for the individual child, making sure that the dog is tailored to the child’s specific needs. We just found out that Giovanni has been accepted into the program and will be receiving what called a Multipurpose Service Dog. His dog will be trained to do various things including seizure alert and response, mobility assistance, tracking, tethering, and behavior disruption.

At 4 Paws it costs $22,000 to train and place a service dog with a disabled child. However, the families engage in fundraising activities as volunteers for 4 Paws to qualify for a free service dog. Each family is asked to help raise at least $14,000. By doing this, the waiting list is only as long as it takes the person to complete their fundraising requirement. Most other agencies that work with children have a 2-5 year waiting list as their dogs are “free”. Once we have met our fundraising goal, Giovanni's dog will start the training process which takes approximately 12-15 months. Once the dog completes the training, our family will have to travel to Ohio for two weeks to go through intense training and certification for the dog to be recognized by the ADA as a service dog. The dog will also be required to retest every year.

We are so very excited to have this opportunity presented to us. To start our fundraising efforts we have setup a fundraising page with the help of 4 Paws for Ability. When you make a donation, the money goes directly to the organization in Giovanni’s name. On behalf of Bob, Giovanni, and myself, we thank you from the bottom of our hearts for your continued support. 

Please share this page with your friends!

Sunday, July 13, 2014

I'm Back...

...well, kind of. I have taken a VERY long hiatus from blogging as all of the issues with Giovanni have been quite overwhelming. I don't even know where to start as so much has been going on. For those of you that don't know, you can follow his story at Giovanni's Journey on Facebook. I am actually in the process of starting a new blog that focuses more on him. I was going to incorporate the two but I would rather leave this "unknown" as many of my friends and family still do not know what I went through to get pregnant. It isn't that I am embarrassed or that I don't want them to know, I just don't want to relive the past.

I also have some exciting news that I wanted to share here. Click here to see what it is...
(yes, that is also going to be my new blog address...if I ever get working on it!)

(that is finger paint on his nose)

Tuesday, October 8, 2013

My Absence

I just realized that it has been almost an entire month since my last post. Things have been busy to say the least. Since we got the diagnosis for Giovanni, life has been a total blur. I will do my best to bring everyone up to speed.

Shortly after his initial diagnosis following the MRI, we were contacted by his neurologist regarding the results. He said that he had a few of his colleagues, current and former, take a look at the images from the MRI. While they all agree on the periventricular heterotopia, they did not agree that what we were seeing was a simple choroid plexus cyst. The consensus was that the area in question was something called Porencephaly. Porencephaly is a very rare disorder of the central nervous system in which a cyst or cavity filled with cerebrospinal fluid develops in the brain. Children with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus, spastic contractures, and mental retardation.The prognosis for children with porencephaly varies according to the location and extent of the cysts or cavities. Some children with this disorder develop only minor neurological problems and have normal intelligence, while others may be severely disabled and die before their second decade of life.

The doctors believe that the Porencephaly developed because of a stroke that he had in utero...the think. If you remember, right around the 34 week mark, I was rushed to L&D as Giovanni was not moving and he failed two NST and BPPs in a row. We believe that this is when he possibly had a stroke.

Given everything that has happened, I would say that Giovanni is doing quite well. We have known from the begninning that something was wrong, but now we have some answers. He currently receives PT, OT, and speech therapy every week, and we have a special neuro educator that comes to our house every other week to check on his development. Right now his biggest challenges are speech, fine motor skills on his left side (from the left sided hemiparesis), and sensory integration. As far has his speech goes, well, there isn't any. We had a period where what babbling he did have completely subsided...for a period of about 6 weeks. His babbling is coming back, but he is where he was 5 months ago with speech. They have tried signing and the PECs system, but he is not taking to it. The therapist said he is lacking some major skills that are needed to develop his language so she is working on that with him. The physical therapist noted that he had problems with his feet and legs. When he stands and walks with his walker, his feet pronate, his toes curl, and he walks on his toes. She also noted that he has a bit of a left leg drag. He was fitted for foot and ankle braces last week and we are hoping that they will be here soon. They are going to reassess his walking once he gets the braces, and if his left leg still drags, they are going to give him a leg brace for the left side.

The other unfortunate part of this is that Giovanni has recently started having seizures. This is something very new for us so we are still trying to process it. With everything that has happened over the past couple of months, our neurologist at the medical center has decided that we need to be seen at Children's Hospital in Boston. The neurology group at the medical center has only seen one other case of heterotopia and they have never seen Porencephaly before. We are leaving for Children's next Monday. I am not sure what they are going to tell us but we are keeping the faith and praying like crazy.

I have mentioned this before, but I have a page on Facebook where I post frequent updates about Giovanni. The page is called Giovanni's Journey so feel free to follow it.

Monday, September 9, 2013

First Birthday Party

Wow, I can't believe it has been almost three weeks since my last post. Things have been so crazy. Between Giovanni's 1st birthday party, coordinating services for him, working, and trying to find time to emotionally process of everything, I haven't had time to do much else. I won't go into detail about what is going on with Giovanni as I have created a page to keep everyone up to date. It is called Giovanni's Journey. You can visit this page to get updates on his progress. So, instead of focusing on all of the negative stuff, I am going to devote this post to something happy...his birthday party.

I will be the first to admit that his party was over the top. I really enjoy party planning to begin with so going overboard wasn't hard to do. I also realize that this was only a 1st birthday and that he won't remember it nor did he understand what was going on, but this was a celebration of his life and the journey to get him here.

The setting for the party was at our local golf club. Since I didn't want to go too fancy, we decided that we would have it outside in the wedding tent and do a fully catered barbecue. It was so nice having someone else do the setup, the cooking, and the cleanup, as I really was able to devote my time to Giovanni and our guests.

Giovanni is OBSESSED with Mickey Mouse so the theme was a no-brainer. In the pictures you will see a slew of decorations and I would like to point out that I made them all! Just call me Martha-Freaking-Stewart!

 (the banner I made using foam sheets and card stock)

 (the goody bags)

 (these ears I made for the kids were super cute, but a super pain to make!)

 (I made these centerpieces using clay pots, Styrofoam balls, and lots of spray paint)

 (the party tent all decorated)

 (the cake-vanilla with strawberry filling in the one layer and banana filling in the other)

(the birthday boy)

 (trying to get him to wear his ears but he was having no part of it)

 (my husband and I in the "Mickey" spirit)

(such a happy boy!)

Thursday, August 22, 2013

A Letter to My Son


I am completely filled with emotion as I sit here trying to figure out what I want to say to you. It is so hard to believe that you have been in my life for an entire year. It seems like just yesterday I was bringing you home from the hospital, worrying if I could ever be the mother that you deserved. This last year has truly been the most amazing year of my life. I can honestly say that it has been the first year that I have felt that my life truly had meaning and purpose. The void that I once had in my heart is now filled by love and joy.

Over these last couple of days I have been reflecting on the past. Though my life is now filled by you, it is hard not to think about and remember the journey we embarked on to get you here. While it was one of the most difficult things I have ever had to face, I can tell you that I would do it all over 1000 times if I had to, just to have you in my life.  

I know that you won’t ever remember this, but you and I had a talk while you were in my belly. The April before you were born, you tried to come into this world. Although I was excited to meet you, it was much too early for this world to be blessed by your presence. The doctors told me that you may be leaving me to go and fly with the angles. That night, after daddy left the hospital to go home, you and I had a little talk. I told you that I needed you to fight hard to hold on because I needed you in my life. I told you how much I loved you and how I had been waiting for you for a really long time. I told you that I would fight for you and that I would never give up on you. From that moment on, you and I fought as a team. We had a bond that could not be broken. You obviously heard my words and felt my love, as you defied the odds and held on, blessing the world with your life on August 22nd…the happiest day of my life. 

From the moment that I first held you in my arms, I could see your personality shine through. It has been incredible to watch your personality continue to develop over this past year. You are the most bright, funny, and entertaining little boy that I have ever known. When you laugh, your eyes sparkle like nothing I have ever seen before. It is almost surreal, like your soul is shining through. It is absolutely angelic.

As we are getting ready to start your second year of life, I can’t help but think of all the amazing days that we have ahead of us. I know that we will be faced with some challenges, but as I have said before, there isn’t anything that we can’t get through. I have known from the moment I met you that you were a fighter. You have a plan and there isn’t anything in this world that is going to get in your way. You continue to amaze me with your strength and determination. Even though you are just a little guy right now, I can tell that there isn’t anything in this world that is going to get in your way.  

Giovanni, I want you to know how much I love you. I am honored to be your mom, and I will do everything I can to make sure that I am the mother that you deserve. Thank you, Giovanni, for showing me what love is and how beautiful this world can be.

Love you baby boy!

Sunday, August 18, 2013

MRI Results

First of all I just want to thank everyone for all the care and concern that you have showed me, whether it has been via comments or private messages. My husband and I are hanging in there, but there is an awful lot to digest and it is going to take a while to adjust.

On Wednesday we went for the MRI of his brain. Since he is so young, they had to put him under general anesthesia to prevent him from moving during the imaging. The entire process took about three hours. Once he was awake and the nurses observed him for a while, we were free to leave where we would have to wait until our follow up with the neurologist 12 days later to get the results. At exactly 4:39pm that afternoon the phone rang when I noticed on the caller ID that it was the hospital calling. I figured that they just wanted to check in to see how he was doing, so I was a bit taken back when I heard his neurologist’s voice. The first thing he asked me is if I was home. When I told him I was, he asked me if I was alone or if my husband was present. My heart immediately sank as I knew something wasn’t right. He obviously heard the panic in my voice as he asked me to sit down as we needed to talk about a few things. He then proceeded to tell me that Giovanni’s MRI was abnormal. He said that he didn’t want to go into great detail over the phone but I demanded information. He gave me a quick rundown of the findings but asked us to come in so we could go over everything together. Luckily we were able to get in the morning of the 16th.

Giovanni was diagnosed with periventricular heterotopia. It is a condition in which nerve cells (neurons) do not migrate properly during the early development of the fetal brain, from about the 6th week to the 24th week of pregnancy. Heterotopia means "out of place." In normal brain development, neurons form in the periventricular region, located around fluid-filled cavities (ventricles) near the center of the brain. The neurons then migrate outward to form the exterior of the brain (cerebral cortex) in six onion-like layers. In periventricular heterotopia, some neurons fail to migrate to their proper position and form clumps around the ventricles. There are many subtypes of periventricular heterotopia, each having different implications. The type that Giovanni has been diagnosed with is posterior dominate periventricular laminar heterotopia, unilateral. This condition is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH) as it affects less than 200,000 people in the US population.

This condition is affecting the right side of his brain, including the motor cortex. With the area of the brain that this condition affects, most diagnosed with this disorder (>90%) develop epilepsy, where in some cases the seizures do not respond to medication and only drastic measures (frontal lobe resection) can help control the seizures. While most with this condition are of normal intelligence, there are some intellectual challenges, namely dyslexia, reading/spelling difficulties, and occasionally, the inability to speak. The other piece of this is that there are several causes of this condition. It could be a big fluke or there could be a genetic component that is causing this. If this is genetically based there are several other problems that could arise.

It was also discovered that he has a cyst type structure in his brain. It was originally thought to be a large choroid plexus cyst in the lateral ventricles, however, this morning I received an email from the neurologist with a bit of a different theory. He said that after extensively reviewing the images with his team, they feel that what they are seeing is a porencephalic cyst.
He said that there is no reason a region of heterotopia should be located next to a choroid plexus cyst so they think the most likely thing is that the cyst is not a choroid plexus cyst but rather a porencephalic cyst. This type of a cyst is normally formed as a result of an injury to the fetus during the later stages of development (2nd or 3rd trimester). One of the most common things to cause such a cyst is small intrauterine stroke. The circumstances of the pregnancy certainly would support such a possibility. What he suspects is that Giovanni had a migrational abnormality (the heteroptopia) which caused that region of the brain to be abnormal in form and structure. Due to this, that abnormal region of the brain was more prone to be affected by the rigors of the intrauterine environment and suffered an insult - likely an intrauterine stroke - which caused part of that region to degenerate and form a cyst. In other words, Giovanni, in addition to the heterotopia diagnosis also now has Porencephaly, an extremely rare disorder of the central nervous system (I will elaborate in a future post). 
We are currently waiting for insurance approval for testing so we can begin to get some answers. In addition to a repeat MRI, he needs to have an EEG to get a baseline read and also to see if he is currently having seizures, an echocardiogram as sometimes the heart can also be affected by this, and the first series of genetic testing to determine if there is a genetic reason for this condition. Once this testing is complete, his local neurologist will be sending us to Children’s Hospital in Boston as they have a physician there that is very familiar with this condition. He is also scheduled for a video fluoroscopy on the 26th to assess his swallowing to see if we can get some answers as to why he is still choking. While we patiently wait for these tests to be scheduled, he will continue to receive his private physical therapy in addition to the therapies provided by Early Intervention. All we can do right now is take things one day at a time. 

If anyone is interested in following Giovanni's Journey, I have created a Facebook page where I will post updates about what is going on with him. Feel free to like and share.

Giovanni's Journey


Wednesday, August 14, 2013

Quick MRI Update

I am sorry that this is short but things did not go as planned today and I am not in the right frame of mind to write tonight. The MRI itself went well and Giovanni handled the anesthesia well. We were expecting to get the results in 12 days as his next neurology appointment but we got a very unexpected call this afternoon from the neurologist with some not so good news. I am still trying to process everything. I have to call in the morning to get in with the neurologist ASAP so as soon as I get more information, and I can take a minute to digest everything, I will post another update.
Thanks for understanding!