Milestones?

Someone wise once told us to celebrate life's milestones. But what if those milestones never come? After all, as humans we look forward to them. Better yet, why are they so long? A mile? Some of us will never reach the most simplest of them, it's just too hard, impossible. So, as a special needs mother I'm changing the famous quote. It now will be celebrate life's inchstones. They may be little things to some, but very significant to others.

On that note, Piper reached an inchstone recently. She can now stand unsupported against the couch. This is awesome in two ways, one is that Piper does not like being let go of. She gets freaked out and has a panic attack. Two is that Piper has not had the strength to stay standing for more than a couple of minutes in the past. At almost 5 years old, this is the inchstone she has achieved. It's the simple act of standing while supporting yourself for more than a few minutes and she's achieved it! Go Piper!

I am looking forward to the next inchstone. I don't know what it will be as I don't have a manual on my daughter. I have no one to compare her to. I don't even know how this happened, or what went wrong to make her this way. I wish I did. I wish I had a book on Piper's inchstones. That would make me feel better wouldn't it? The book would tell me that by 6 years she would talk, she would say Mommy, tell me that she loves me. By 7 years she would walk, run by 9 and bound towards me...wrap her arms around me in an embrace. But I know this isn't true. There is no book on Piper. There is no book on life. I must pull up my sleeves and do the best that I can everyday. There is no reason this happened to my beautiful daughter, our family. It just is. This, this may be the most depressing thought of all. Because that means that there is just nothing. And that nothing is what gets me by. Think of nothing. Feel nothing. Remain. Static.

Moments like this inchstone bring me out of my nothing and make me happy. Make me realize that there is something. But I know it won't stay. Something will be gone soon and the nothing will fill me again. I hope the next inchstone comes soon...

Off to Nursery School

So it’s now been a month that Piper has been at nursery school. She is going three days a week to the Bloorview Macmillan Kids Rehab Nursery School. The school integrates children from the community with special needs kids.  The site is around the corner from us so it’s very convenient to drop her off and pick her up. Since I am not working right now (I was laid off from my job back in June) it’s actually perfect because I can wake up with Piper and get her ready. I was also able to transition with her by sitting in the class for the first few sessions.

If I was working I don’t know how we would manage it. Piper takes so long to eat anything and then I have to give her a bottle and she needs to be to school for 9am. Now add my 6 year old into the picture and it would be impossible for one person to do it (yes I mean my husband all by himself) and go to work.

Anyways, back to Piper. She seems to be doing well in the class now but at first there were some bumps to work through. It was a little hard to get used to for me as there weren’t any children that were “like” Piper. Physically everyone looked fine. I don’t know what it is but I get really sad when there are a lot of children around that are Pipers age and I look at my daughter and I just feel sorry for her. I feel this need to protect her. On the second day I just started crying right there in the middle of the classroom while I was holding onto Piper. Ugh, I was so upset that I was just standing there holding onto her and the teachers were running around after other kids. I felt invisible, and I felt what Piper feels. You see; some children demanded attention behaviourally. Piper is the type of child you can leave in the corner sitting and she wouldn’t complain. I was concerned that she just wasn’t getting the attention she needed because she doesn’t ask for attention. So of course after seeing this a couple of times I was getting a little upset.

After the teacher came up and asked me what was wrong I just let it out and said my words. I told her that I just can’t have Piper sitting somewhere while other children get the attention, and believe me the one kid needed it…he was a terror! But this is something the school needs to think about as we are paying the same amount of money as the other kids. So I said you need to take Piper when I come in. I can’t just plop her down and let her run because she doesn’t run! After that the teacher has taken Piper from me when I walk in. She doesn’t need to hold her the whole time, she just needs to take her and put her where she will get the interaction from the other children.

Next we’ve been dealing with Piper crying. She is still trying to get used to school and she tends to cry most of the time. It could also be because school is on during the time that she usually naps. So by the end of school at 11:15 she is done! But we are working through it and I hope once she gets used to the people and the schedule she will be a lot calmer.

Overall though I believe Piper is getting something from her school time. I don’t even want to think about next Septmeber when she has to go to JK. That’s going to be even harder on both of us. But I will deal with that when I come to that road.

Physically Piper is still the same. She can sit up and she’s starting to try to clap her hands. I think she has developed more socially than physically over the past few months. She seems entwined in people’s conversations and emotions. She laughs hysterically at anyone getting hit with something or if someone drops something on the floor (sadistic, yes but I’ll gladly bonk myself in the head with an empty paper towel roll over and over if it makes my precious girl laugh).

It's been a while...

I haven't written in my blog for quite a while and thought it may be time to update everyone a bit. There have been many changes in our lives since last year. I can hardly remember what I ate for dinner last night so forgive me if I mess it up a little. So here goes…

Last time I wrote I was telling everyone about the surprising EEG results that we received. Pipers EEG showed that her brain has the activity of a normal child her age. It was a great relief and was confirmed by the neurologist at Sick Kids. He recommended that we wean her off of all of her anti-seizure medications which I was excited about. One of the medications she was on had a side effect of hypotonia, which honestly Piper didn’t need more of! As well the drugs made her tired. I wanted to see if this brought Piper out a little more.

So after weaning her off for two months Piper finally came off of her meds in May 2012. From there she made even more progression. She started to make a lot more noises like AHHHH. She started to eat more solids and interact a lot more. The most significant change was when Piper finally sat up unassisted for more than a few minutes. She learned to put her hands down on the ground to support her while she sat. She started to mouth different objects in January 2013 and become more aware of her surroundings at the same time. We did another round of Medek therapy in November 2012 and I credit some of her progression to that. I found that doing the exercises with her really helped her neurologically.

Her PT and OT were transferred in January 2013 to Bloorview MacMillan Children’s Rehab Hospital. Honestly one of the best, if not the best, kids rehab hospitals in Canada. So we were lucky to get the expertise from the therapists and doctors there. She has progressed slowly and can now sit on the ground unassisted and play with toys. I still need to keep pillows around her in case she loses her balance and falls but I’m proud of her nonetheless. We also bought a stander for her that she is just getting fitted for and will be using that daily. The PT wants her to go in it at least an hour a day to get her used to standing. It’s quite a contraption and I’ve put up a picture so you can see what it looks like. Bloorview also has a nursery school that Piper just started attending last week. I’ll write more on that in my next blog.

As far as finding out what is wrong with Piper we’ve met some new people and received some advice but haven’t succeeded yet. In January 2013 Bay and I were privileged to meet with Dr. Cohn at Sick Kids. He arrived in Toronto in September 2012 and Piper was one of the first children he saw. You see Dr. Cohn started the Hypotonia clinic at John Hopkins in the US which was the first of its kind. It was created to help families figure out why their children have hypotonia and to support them with the care. He has come to Sick Kids in Toronto to continue his research and has created the Movement Clinic here. We knew he was coming for months as Pipers pediatrician had told us. Read more about him here. Any who, I cannot say enough kind words about Dr. Cohn. He was honestly the first doctor that Piper has seen that I felt truly cared about finding out what was wrong with Piper. He is also the only doctor that ever turned to my husband and I and asked “How are you guys doing?”. It took us by surprise but my husband and I looked at each other and I burst into tears. Wow, someone actually asked me that and they are right…how AM I DOING?

So it turns out that Dr. Cohn holds hypotonia close to his heart as he has dear friends that have a daughter with hypotonia and don’t know why. And THAT’S what we need more of…passion! Passion to understand and passion to find out for the child and the family. I’m so glad that Dr. Cohn is here and will be speaking for Piper. In the time since we saw Dr. Cohn, Piper has had a muscle biopsy and another MRI. Both came out normal. Dr. Cohn feels that our next steps are to perform a microarray of Pipers DNA. Unfortunately the government will not cover this in clinics as it takes a lot of time and money. As my husband explained, it’s like decoding an ancient language and then asking someone to translate it into English. If you don’t know what any of the words mean in the first place it’s going to be a hell of a job. So our only choice is to try and get into a research study of some sort. We need someone to be able to look at the millions and millions of pieces of Pipers DNA and decode it. But until we find someone willing to do that we are at a standstill.

So I will leave this post for now and next post I will tell everyone about Piper going to nursery school for the first time!I leave you with a beautiful picture of Piper from our trip to the cottage this past July.

Good news? What is that?

Since going back to work Piper has changed a little. We’ve noticed that she’s more interactive over the last couple of months. She is looking at people more, using her hands to play with toys, smiling and laughing more as well as making more sounds. She is also not sleeping as much as she used to which is also very encouraging.

A couple of weeks ago Piper had an overnight EEG at Sick Kids. It was initiated because we questioned some unusual movements she was making. We weren’t sure whether they were seizures or not and the only way to tell was to have an EEG. So we went in on the Monday and Piper was out by 1pm on the Tuesday. She did all the movements that I questioned so I was happy with the session overall.

What happened next was surprising. The resident neurologist had come to my husband and said the initial findings were that the movements that Piper was having were not seizures. Phew, that was a relief. But he said he saw something else in her EEG. He said that her EEG was normal for a child her age. What? What happened to her confused brain? What happened to her hypsarythmia? My husband told me the news while I was at work and I started to cry. What was this feeling? It was something so unusual? Relief? Happiness? Renewed hope? I immediately caught my emotions and came back to reality. After 16 months of bad news it was only natural. I was hesitant and started questioning the validity of the EEG and this doctor’s opinion. As well I didn’t know what this meant. So I decided to wait until our appointment with the neurologist who had been following Piper on March 19. After all, what the resident doctor said is that they just looked at it quickly. I talked myself down and back to “reality”.

So on Monday we went to Sick Kids and met with the neurologist. HE confirmed it…Pipers EEG was normal, her hypsarythmia had disappeared. He said this happily and with a smile. Of course I was happy but I didn’t know what this meant. A lot of mentally disabled children have normal EEGs, so what did this mean for Piper? He said it was overall great news and that it would make it easier for Piper to learn, but we still didn’t know what she would be like in the future.

Next steps are to start to wean Piper off of the Vigabitrin over a 6 week period. We’ll then repeat the EEG at that time to see if her EEG comes out normal again. In the meantime we are starting up an intense 6 weeks of CME physio again hopeful that we will see some progress. I’ll keep you updated over the next few weeks on progress.

For me it’s given a little more hope that things CAN change. The brain is an amazing thing and no one really knows how it works or how much it can change. I’m still guarded, but I think that is natural considering all the crap we’ve been through over the last year. For now I’m going to remain hopeful and try to take time to enjoy a bit of good news…even if I can only allow myself 2 minutes of it.

Changes...

Another New Year and a whole lot of changes. This past week I went back to work after 14 ½ months off. Going back to work after maternity leave is bitter sweet and never easy for any mom. For me it was confusing and a little heartbreaking. With my son I went back and felt rejuvenated like I could conquer the world. I welcomed the conversation with adults, a lunch hour filled with ME and bathroom breaks whenever I wanted. I didn’t feel that this week. Instead I cried at 3am the night before returning to work, thought of only my daughter the whole day and despised sitting at my computer. I especially hated the “WELCOME BACK’s” because they were cheery. Now this has nothing to do with the people I work with, in fact all are very friendly and genuinely asked how Piper was doing. It was solely me and this is why.

When we leave work to have a baby all is joyful, people bid you well and wait for the birth announcement to come out. Your own expectations are heightened and you are filled with happiness. When I turned around and waved goodbye to my job and coworkers I was on cloud nine. Nothing could bring me down, but it did. Funny how returning to this environment just reminds me of that day. The smiles and the joy are fresh in my mind. The happiness, oh, the happiness! My life was “normal” then and I’m now reminded that it’s not anymore...it’s never going to be the same again. I’m trying to fit into my OLD life but it’s not working. I’m not the same person I was. I never will be.

Nannies and Assistive Devices OH MY!

Well, it has come time for me to return to work. After my one year maternity leave and two month leave of absence I will be returning to work in January. With a return to work comes the thought of who will be taking care of Piper and Fynch when I go back. When my son was small we decided to put him into daycare. He thrived in this environment and we are so glad that we made that choice for him. With Piper it’s different. After tossing around a few scenarios we’ve come to the conclusion that a nanny will be most appropriate for her. As well the nanny can go pick Fynch up from school at the end of the day.

Now begins the search for a nanny. I’ve posted an ad on a nanny website and had loads of applications. When I responded back to the applicants only a handful got back to me. I’ve spoken with a few of them on the phone and will start interviewing within the next couple of weeks. It’s so hard to imagine leaving Piper with somebody I don’t really know, but I know I have to do it. I will update everyone on how the search is going over the next couple of weeks. Wish me luck!

On another note we’re starting to look at some assistive devices for Piper. I registered Piper for Easter Seals Canada and they will help out with some of the cost of assistive devices. In Canada this is how it works...75% of the cost of the device is covered by the government and the rest of the 25% is up to you to cover. Now you can see if your insurance company will cover the rest of the cost OR you can apply to charities to see if they will help out. These devices cost thousands of dollars so the cost can really add up. I think right now with our insurance and the Easter Seals we’ll be okay for now, but we haven’t really gotten our feet wet quite yet!

The first device we looked at was a bath seat for Piper. Since she can’t sit up on her own we are currently using a small angled netted bath seat. This allows her to lay down in the bath at an angle, but really the seat is made for newborns and Piper is getting way too tall for it. The seat that we would get is a full mesh chair that will sit in the bath and support her full body. We will be able to angle it more so she can sit up and maybe play for a bit in the bath. As well it’s not as low as the contraption we have now so this will make it easier for us to lift her out of the bathtub! I’ve included a picture at the bottom. Next we’ll be looking into foot braces and possibly a stander to help get her up in a prone position.

With all this stuff it’s still so confusing. Again I never thought I’d be looking for stuff like this for my little girl but I’m coming to grips with it (I think). So many things to think of!! Today we are off to our first visit to a speech pathologist. This should be interesting...

Current Updates and Turning ONE!

I know it’s been a while since I’ve updated my blog and I apologize. After all the goings on for the past couple of months its really gotten me down. I really haven’t felt like writing. I think I’ll first update everyone on what happened after we noticed she was having infantile spasms.

So the on September 15 we returned to Sick Kids for Piper to get another EEG. She has been having these sets of spasms that last around two minutes where she brings her arms up in front of her and her head flies forward. These are what we think are infantile spasms. I recorded it on my cell phone to show the doctor.

After the EEG the doctor analyzed the results and came to speak to me. He said there wasn’t much difference in her EEG from the week before. He still saw the hypsarrhythmia (unorganized brain) and after I showed him the video on my phone he said that they are definitely infantile spasms. The thing is with Piper her EEG pattern isn’t really typical of what they see in children with infantile spasms, but her physical symptoms were typical of infantile spasms.

So the next step was that he wanted her to go on Vigabitrin which is an anti-seizure medication that helps with infantile spasms. This is the medication he wanted to put her on before and causes the tunnel vision in a small amount of children. So now Piper is on another medication. It’s like a chemistry class every morning and evening in our house. She is on 6 different medications at different times so it can get confusing.

So at the end of September, after two weeks of Piper being on the Vigabitrin, we returned to Sick Kids for yet another EEG. The results were the same. Physically she was not having the spasms anymore, so the medication helped with that. But, on the EEG it remained the same. The medication was not helping with her unusual hypsarrhythmia. Bad news. They decided to keep Piper on the Vigabitrin due to her physical symptoms being eliminated. There was nothing they could do for her unorganized brain.

On October 21, two days before her first birthday, Piper had an ERG (electroretinography). This would determine two things; a) If Piper had any problems with her vision and b) Would give us a baseline used in the future to determine of she was getting tunnel vision from the Vigabitrin. She had to be put under general anesthetic for the procedure. My Mom came with me as Bay had some important work meetings to attend to.

It was hard to see her go through all this but I knew it would help. The results of her vision test is that Piper can see fine. Her optical nerve is a little underdeveloped but there is enough there that whatever messages her eyes are picking up it can get to her brain. Now what happens when it gets to her brain is another story. We obviously have no way of finding out what her brain is doing once the optical messages get there. And we may never find out.

Two days after her procedure, on October 23rd, we gathered family and friends to celebrate Pipers first birthday. It was amazing. My little girl that could was turning one and I was so proud of her.

It took a lot for me to get through the day. Emotions took over when I thought of her coming into this world on that day a year ago and things were so innocent then. The emotions on that day a year ago were pure, untouched. There was no tears of sadness, only happiness and thoughts of opportunity and wonder were swirling around. Ugh it was one of the most wonderful times of my life. Little did I know it would be snatched from me three days later, at least I had three days of normalcy with my baby.

Anyway, back to the party. Overall it was a success. Piper slept for the first little bit. Guests took turns holding her and watching her sleep. The last hour she was awake and we sang Happy Birthday to her and opened gifts. She stayed awake long enough to get through a few gifts. She did really well.

As for now Piper is doing better. She has her strong days where she can sit up assisted and some days where she just wants to sleep. Her head control is much better and we are now working on her trunk control.

Every new day is different then the last with Piper. I’ve learned over the past year to take it like it is. I have no expectations of what Piper can achieve but I do have hope that she will get there.

No Better Than Before

This past week has been hard on all of us, especially for little Piper. Last Monday (Labour day) Piper was lying in my arms and I watched as her eyes opened wide and she stared straight ahead. She wasn’t breathing. She started to turn very pink then her face turned grey. Her lips were turning blue. I started to scream and I turned her over and patted her back because I thought she was choking. My husband and son came running into the room and all I could say was “Call 911, call 911!” My husband was frozen so I grabbed the phone and called 911. I was screaming at the 911 operator that my baby wasn’t breathing. As the operator was trying to calm me down she started to breathe again. By this time my husband was holding Piper and she looked better. I told the operator to cancel the ambulance and we would be taking her to Sick Kids right away. We packed our stuff and were on our way.

When we arrived at Sick Kids they took her in right away and hooked her up to monitors. Her heart rate was jumping around, going from a low 70-80 bps to a high 170 bps. They were obviously concerned thinking that she could have been choking on stomach acid since she has known acid reflux. While we were there she stopped breathing again, about 8 doctors and nurses came rushing in. I lost it. I don’t remember much other than falling back into the chair beside the bed and crying. One of the nurses came over and was comforting me. Just as she did at home she started to breathe again but this time the medical professionals saw it. They knew it was more than her choking.

They decided to put her on a feeding tube to drain the acid from her stomach just in case. They also hooked her up to an IV and the respiratory team came in to check her breathing. I was told that she needed to be admitted.

Over the next couple of days Piper was visited by all the specialists that I’d been waiting months to see. She also had all the tests performed that she was waiting for such as her MRI, EEG and other blood tests.

Everything was normal on Piper except for her EEG. She was having spasms constantly in her brain that the neurologist said looked like infantile spasms. Infantile spasms will occur almost constantly in small children and although they aren’t harming the brain they can prevent children from learning properly. There is a specific medication that is very successful in eliminating these spasms but one side affect is that Piper could possibly get permanent tunnel vision. It was good and bad news. We also thought maybe this would help Piper with her development. My husband and I had to weigh the pros and cons of the medication and decide whether we wanted to have her on it or not. In the meantime they were going to hook her up to another EEG that was longer ( a typical EEG is 30 minute) to try and catch her having one of her episodes that brought us into the hospital.

We waited and waited and we finally caught one of the episodes overnight on the EEG. On Thursday morning the neurologist came in and spoke to us about what he saw. He said that the episodes were definitely seizures and they could be controlled with medication. Good news. The bad news? He no longer thought that she was having infantile spasms. Instead he explained that he saw spikes on Pipers EEG that were not very common. What this means is that her brain is in an almost constant state of disorganization. This makes it harder for her to learn. He also told us that there is not a medication that has been shown to fix this. So what does this mean? We would put Piper on an anti-seizure medication for her physical seizures but there was nothing we could do about her disorganized brain. I felt like I was going to throw up. What does this mean for Piper? He said he didn’t know. NICE, more not knowing!

Piper started her medication on Thursday evening and was released from the hospital on Saturday morning. Since she’s been home she's been her normal self and she hasn’t had one of the seizures where she stares and stops breathing. She sometimes has little spasms where her arms will raise up in front of her, go down and then go back up again. We think they look like infantile spasms (because we looked at videos of it on YouTube) so we called the neurologist to let him know. We are going back to Sick Kids tomorrow for a follow up EEG. Hoping we get good news and there is some kind of medication or therapy for Piper.

The sad thing about all this is that Piper is no better than she was before. Yes, she had all the tests performed and saw all the doctors that I have been hounding over the last few months but she now has epilepsy. The thing is this epilepsy is not causing her hypotonia and vice versa. We are no closer to finding out what is causing her hypotonia, we just have epilepsy added to the things my beautiful daughter has to deal with. What went wrong? Why is she going through this? Why her? Why not me?

A Morning of Appointments

Yesterday Piper had two appointments downtown. We had a genetics appointment at 9am and a cardiologist appointment at noon.

Our genetics appointment was at Sick Kids and it went well. The doctor ordered a few more tests which consisted of such genetic conditions as Zellweger syndrome (VERY BAD!) and Pompe disease (VERY BAD AS WELL!). Actually now that we are in the really rare genetics conditions its all bad. We don’t want Piper to have any of the conditions that she is tested for from now on. Most times these conditions result in death and there are no cures for any of them. We received the results from her last round of testing that neurology ordered and they were all good. Phew! Now I just have to wait 6 weeks to get the results of these other tests. FUN! He was also positive about her cognitive ability. She was smiling and interacting with him as well as playing with a toy. It was nice to hear him say that he noticed a big difference in her.

The doctor at genetics was really confident that the fMRI (functional MRI) that neurology suggested may be important in deciphering what is causing Pipers hypotonia. An fMRI is a newer technology in the MRI world. It not only looks at an image of the brain but can determine the brains functioning by looking at the blood flow in different areas. Blood flow is related to neural activity so we will be able to see if everything is working like it should in Pipers brain. This is the test that I am really worried about. Since neurology told me that they think Pipers problem stems from her brain I have a feeling that they may find something. This “something” that I am waiting for them to find is probably not good. I’m preparing myself for the worst but yes, trying to remain hopeful in the interim. We don’t have a date yet for the fMRI but the appointment relies on anesthesiology contacting me and making an appointment first. She will need to be put under for the test so they need to look at her health, breathing ecetera.

Our cardiology appointment was next and it was at St. Michaels. Piper had an ECG done when we arrived and we met with a wonderful doctor, Dr. Hann. She was very nice and you could tell she was sympathetic. I love when I meet doctors like this who seem like they care about and enjoy their job. Anyway, she listened to Pipers heart and told me that no the ECG she has a perfect heartbeat. Since Pompe disease has to do with the heart she told me it was very unlikely that the blood tests would come back positive for that. What a relief that was!

Next Piper had a Doppler Colour Flow ECG. It is basically an ultrasound of the heart and you can see different colours which represent the blood flow towards and away from the ultrasound device. It was really neat but it took forever. Piper fell asleep during the ultrasound, she was such a good girl!

After looking at the results from that Dr. Hann told me that everything looked great in Pipers heart. She did have one slight concern about her heart and it was that Piper has PDA (Patent Ductus Arteriosus). This is a very minute condition that happens with some babies. Before a baby is born there is a small vein that connects the two main arteries in the heart. This is because the mom does most of the work for the heart. After the baby is born (within minutes and up to a few days) the vein is supposed to close to allow the heart to work on its own. Pipers hasn’t done that yet. It has nothing to do with her hypotonia and the doctor thinks it will just take hers longer to close. Otherwise she said there is no precautions that she needs to take because hers is very very tiny. Great news!

I’m pretty hopeful right now but again I’m worried about the fMRI and what it may reveal. Piper is doing a lot better cognitively. She loves to smile, laugh and make noises. She reaches for toys and really interacts with people. Its a relief to see her little personality coming out but I do wish all these problems didn’t have to loom above me. Only time will tell I guess.