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.

Update on Progress

It’s been a couple weeks since I’ve written on the blog. We recently had our neurology appointment on August 2nd at the Hospital for Sick Children. Nothing really transpired from the appointment. We did wait there for a few hours while several doctors discussed Pipers situation and went over her various tests. Their conclusion was that the hypotonia was being causes in her brain. It wasn’t it her muscles or her spine. They also thought that what she has was there from conception, meaning that they think this is a genetic condition causing the hypotonia. It was nothing that I did or could have changed because she has always been this way. They said she is going to have developmental delays and other problems throughout her life but doctors never really know. I mean they can guess and assume what Piper will be like but they just have no idea. I’m trying to maintain my hope and prove those doctors wrong.

Next steps? We are waiting for an appointment for another MRI and we are going back to genetics. I was really surprised about how quickly we got back into genetics. After the coordinator phoned me and said she had an appointment for November I protested stating that I couldn’t wait that long to know what is wrong with my child! She called back a couple of days later and we are going in to see them tomorrow morning. We are also scheduled to see cardiology tomorrow at noon, so this should be interesting.

As far as Pipers development its been going well. She is getting stronger with her head control and the PT and OT are now working on her abdominal muscles to help her sit. The PT that we have is quite amazing with Piper and very knowledgeable about programs and services in the city. On request of the PT I am filling out a registration for the Easter Seals of Canada. I’m hoping to get some funding to be able to get Piper a car seat soon. The car seats can run about $4000 to $5000 so it would be great to get it paid for by Easter Seals! She is outgrowing her infant car seat and I don’t know if a store bought car seat will give her enough support. I have a representative coming in in the next two weeks to show me the seats and I can even try them in my car to see if they would be a good fit. In the meantime I think I might try Piper in Fynch’s car seat to see if it would work for her. Of course I’d have to turn it around and recline it, but you never know.

For now the neurologists have said that I am doing everything I can do for Piper. They suggest keeping up with all of her therapies and waiting to see how she progresses. Although they are time consuming I know they are the best thing for Piper. I really do rely on other people to tell me how she is improving though. Since I am around her every day it’s hard to judge how she is doing. The various therapists, family and friends are the ones that give me supportive words letting me know that she is doing better. I’m hoping for more progress within the next month!

The End of Hope

Last week we had a physiotherapist come to our house from the CCAC. Our Occupational Therapist thought it would be a good idea to add physiotherapy because Piper is not making very good progress at this time. Honestly she just turned 9 months old and she still can’t really hold her head up and she definitely can’t do much else. So in addition to the Osteopath, MEDEK physiotherapist and Occupational therapist we’ve added this government funded Physiotherapist.

The girl who came was very friendly and showed me an exercise that I should be doing with Piper. Compared to the MEDEK Physiotherapy it’s very passive. I place Piper sitting on my lap leaning against my stomach and move from side to side. It’s very simple but I really don’t see the immediate benefits.

What was disturbing about the visit was the conversation we had during it. She asked me if I’d filled out some papers to get funding under the “Children With Severe Disabilities” act. I had the papers but never filled them out because a) its 20 pages long and is very labour intensive b) it’s income dependent and I’m not thinking that we would fall into the range to get the funding and c) I haven’t categorized Piper as having a SEVERE disability.

I asked her why I would need this and she explained that Piper should have a different stroller. I told her that Pipers stroller was fine and she said the stroller may help her until she needs a stander. A stander? What the heck is that? She wrote down the name of the stroller and I said I would look at it.

Once she left I looked up the stroller and it looks like a wheelchair. I lost it. Getting a special stroller for Piper will just acknowledge the fact that there is something wrong with my child. It will make people look at her more than they already do. Why would I do that to her, to me? I looked up a stander and then cried. I put a picture of it on the page so you can see the stroller and the contraption called a stander. Is this what Pipers life will be like? Would she ever walk? Will she be 20 and me still having to carry her around? The not knowing is killing me. It makes me want to pull out my hair in frustration!!!

I asked the pediatrician last week about the stroller and the stander and whether she thought that she needed them. Her answer was that she doesn’t know what Piper will need, nobody does. If I don’t feel that she needs the stroller then I don’t have to get it, but I may need to cross that bridge when I get there.

When Piper was 2 weeks old I thought “she’ll be better by 3 months”. When she was 3 months I thought “she’ll be better by 5 months. When Piper turned 5 months old the only thing that kept me going was the thought that by 9 months she would be holding her head up. When the milestones all came and she still couldn’t hold her head up I lost faith. I am at the end of my leash when it comes to hope. I don’t know if I can do it anymore. I have spent the last 9 months hoping and working and worrying for this precious child. What am I supposed to do? This is something that consumes me 24/7. This isn’t something that will get better with time or go away for a few minutes. Where do I go from here? How can I go back to work in a few months with a child who I worry about all the time? Things and priorities are different. I can hardly function at home, what about at the office?

We have a neurology appointment on August 2nd. Although I wait with bated breath for the visit I know in my heart that there will be no answers on August 2nd. This will not end for our family. We will never know what Piper will be like or what to expect from day to day. That false acceptance is laden with a small amount of hope that remains when every 23rd of the month arrives. As it arrives the hope gets smaller and smaller. What happens when there is no hope left?

Genetically Speaking

As I mentioned in an earlier post, when Piper was just a few days old she had a multitude of tests done on her. A major category of tests was genetics. Hypotonia is a symptom of almost every genetic disorder that affects humans. All the way from the most common, such as Down Syndrome to the rare, such as Spinal Muscular Atrophy (SMA).

I’ve definitely learned a lot about genetic disorders and most of them I hadn’t heard of before. When a doctor would tell me that they were going to test for a disorder or syndrome I would sneak out of the ICU and Google it. I would then call my husband in tears over the possibility of our daughter having one of these syndromes. He would subsequently get upset and it would be a big mess. Then after waiting for a couple of weeks I’d sit in front of the doctor for the results. Was she smiling? Did she look nervous? Why does she keep talking? JUST LET ME KNOW THE RESULTS!

So thankfully all the tests performed at St. Michaels were okay. No need to worry about the “common” genetic disorders. Now we get a referral to the Department of Metabolic Genetics at The Hospital for Sick Children. Now we get into the serious and “rare” genetic disorders.

Our appointment was at the beginning of May and it was quite the experience. I don’t know how a parent could walk out of a genetics appointment feeling good because they measure, look and criticize your child's features the whole time. Detailed questions are asked about yourself, your family and their offspring. We were even asked the obvious “Is it possible that your guys are related? You aren’t brother and sister are you?” Ummmmmm, NO! I think I would know if he was my brother and maybe we would have mentioned that BEFORE the genetics appointment? Gross!

When they looked at Piper the doctor and the student were vocalizing their concerns with her features. They mentioned that perhaps her ears were lower than normal a slight bit. They asked why she was so pale and whether it runs in the family. If anyone knows me they know I’m pale, very pale. It’s quite a touchy subject with me and not only has Piper inherited my skin tone but my son has as well. Lastly they looked at her eyes and then mine, then my husbands, then back at Pipers. He mentioned that her eyes kind of went up at the corners then continued to talk. After about ten minutes he all of a sudden looks back at me and says, “No, I think she has Mums eyes”. If you look at a baby picture of me and look at Piper they are exact.

That whole procedure was exhausting and nerve-wracking! They really didn’t find any dimorphic features that would indicate a specific genetic disorder. This was a relief. The doctor told me that he was going to test for a couple of rare disorders and started to tell me which ones. I stopped him and told him that first of all we didn’t want to know what he was testing for. I knew that Bay and I would just go home and Google every one of them and worry ourselves. Second, I told him that ideally I didn’t want to come back if it wasn’t necessary. I wanted him to test for every possible genetic disorder he thought Piper may have.

We were sent to ambulatory services where they took five large viles of blood from my thirteen pound baby! It was horrible to see but they were taking so much because I signed a waiver to allow them to bank Pipers DNA. This way she would only have her blood taken once and we could test over and over.

It was almost two months later and I hadn’t heard anything about the results. I started calling genetics and left two messages. This brings us to today. I finally received a call back from the doctor and the results are back. Everything is negative (normal) that they can see with her microarray. Microarray is where they look on each one of Pipers chromosomes and make sure all the little pieces are there and that they aren’t damaged. She was also tested for Spinal Muscular Atrophy (SMA) and Myotonic Dystrophy (a form of muscular dystrophy) and they were both negative. So all we have left is to go back to genetics and see what our next steps are.

If this is genetic what are our chances of ever finding out what the cause is for Pipers hypotonia? Well, there are an estimated 20,000 to 35,000 human genomes but there are suspected to be thousands more that we don’t know of due to technology constraints. Within each of those human genomes contains vast regions of DNA, the function of which, if any, remains unknown. In fact this “unknown” region is estimated to be about 97% of the human genome size.

So you can see that if it is a genetic disorder it may never be found in Piper. This is what doctors tend to refer to as Benign Congenital Hypotonia. It’s encouraging and discouraging at the same time. There is hope left in the unknown that she will just outgrow this one day and break down barriers. But there is also a sense of uncertainty because there isn't a basis how our little girl will progress through life. We’ll have to wait and see until the next appointment.

Daycare Dilemmas

My search for a daycare for Piper started back in February 2010 when I found out I was pregnant. Right away I called a couple of daycares and got on their waiting list. This is “the norm” in Toronto. When my son was born I waited until he was a couple months old to call daycares. I was told time and time again that they had a 1½ to 2 year waiting list. So this time around I was diligent knowing that I would go back to work when Piper was one year of age (October 2011).

Unfortunately we didn’t know that Piper would be, well, Piper! Her hypotonia and the not knowing have created a problem when it comes to her care. What does she need and how do we get it?

I started by calling the daycares I have her on the waiting list for. Both of them do accommodate children with disabilities up to a certain point but the issue is we don’t know what her disabilities are. The city kicks in a worker to help Piper depending on her needs. She may get approved for only a few hours a week up to 40 hours. It depends on her needs at that time. If her disabilities seem more severe then the daycares that I signed up for will not be able to accommodate her. UGH!

This sparked a search for more daycares that will accommodate more severe cases...and of course the waiting list is huge for one that is in our area. Well, I got on the list and hopefully I won't have to use it. This just shows that no matter how you prepare for life it will always throw a curve ball your way.

Persistence Pays

At 2 weeks of age Piper was seen by the Neurology Department at the Hospital for Sick Children (Sick Kids) here in Toronto. She had an MRI and an EEG performed and needed to be assessed. Luckily the doctor who would be assessing her was Dr. Brenda Banwell. She is a leader in her field of pediatric neurological science and specializes in neuromuscular disorders. She studied at the Mayo clinic for a few years and is a professor here at the University of Toronto.

When Dr. Banwell looked at Piper and her test results she said it was all normal and Piper needed some time to recover from her birth and jaundice. She didn’t think that we would be back to see her. Unfortunately that wasn’t true. Since Piper did not “recover” after 3 months like she thought our pediatrician thought it was best to go back and see her.

This may seem like an easy task, going back to see a specialist that we’ve already seen. That didn’t turn out to be the case. Because we were seen as an in-patient before we were now considered a new patient. In our Canadian Healthcare system this means that the patients who are currently seen by Dr. Banwell would be given slightly more proiority. In January we were given an appointment for the end of September! To me that was ridiculous, Piper would be almost a year old by then!

As Dr. Banwell only runs clinics once a month and is very busy I was told that we would have to wait. I complained to my pediatrician who called Dr. Banwell (with no luck) and I set my sights on calling the neurology clinic every couple of weeks to find out if there were any cancellations. I got to know the nurse and she would tell me, “No, nothing yet.” I think she started to feel bad for me.

So imagine my surprise when just last month I was sent a letter telling me that my appointment was moved to the end of October due to Dr. Banwell being away. The appointment was just a few days before Pipers first birthday. I was livid.

Again I complained to my Pediatrician and decided to call the clinic every week. I put the appointment in my BlackBerry and never missed a week. Yesterday I called and left a message and the nurse called me today. She said that she has an appointment for August 2nd for Piper! Yippee! It’s not tomorrow but it’s better than the end of October!

I really feel that we are blessed to be living in a country that provides health care free of charge and that we live in Toronto where the best pediatric hospital in the country is. I can’t imagine the trek that some families have to make from across Canada just to visit Sick Kids. Or worse yet the amount of money that some Americans have to shell out to get the best care for their child.

Now the drawbacks are few with our medical system here in Canada but I’ve discovered that you need to be persistent and manage your child's medical care closely. If not you can get pushed to the end of the line or muddled in the bureaucracy. So continue to challenge your kids healthcare and do your own research regarding doctors and therapies. It’s us moms who fight for our child’s life that make the real difference!