It is another beautiful fall day in Three Hills. We have been truly blessed this week and not only by the weather – there is something to be said for driving into Calgary with the sun shining instead of blizzard conditions. Well as I mentioned, Monday Ella had her Eye appointment. I initially wondered how they would manage to check the sight of a 5 month old. It isn’t like she can read out the row of letters. Don’t get me wrong, she is very advanced for her age, but that would put her beyond her brother and well, let’s just say, that would not go over well. Despite my skepticism however, optometrists have their ways…go figure. The good news is that Ella does not have cataracts, which tend to be common for children with Down Syndrome. Of course that means no surgery to remove them. She does have astigmatisms in both eyes, but who doesn’t really. They aren’t too bad but a bit worse than they like to see. all this means is that they will monitor them and she will have a followup appointment in 4 months. Then, when she is old enough to keep glasses on they will write her up a prescription. Astigmatisms tend to stay the same or sometimes can even improve and unless there disease in the cornea do not tend to get worse. Good news and we will hope for the best.

Wednesday, I came down with the flu or swine flu or just a wicked cold that kept me in bed for a couple of days and I was worried that we wouldn’t be able to go to our appointments on Friday. Luckily, by Thursday afternoon the fever was gone and I was feeling much better.  They said it would be fine if we came in and I might just have to mask up. Half of our appointments however, were cancelled due to sickness on their end. So we started the day off with a greeting from Donna (the clinical nurse for the Down Syndrome Clinic) and we weighed Ella and took her measurements. She is now at 13 lbs 9 oz  and 65 cm which puts her in the 75th percentile for both height and weight. Way to go Ella! We then met with Dr. Prince, our developmental Pediatrician. Not much to report and let’s try to keep it that way. Ella is beautiful and healthy and he had no concerns. Our next appointment was with the Social Worker. She is there to keep us informed about programs and services available to us and to advocate on our behalf for anything we might need. We have tried to be fairly proactive with Ella’s programming and have made an effort to make it out to the Down Syndrome Clinic drop ins and Ups and Downs coffee mornings. I have also made initial calls to other programs and inquired into much of the financial aid available, so needless to say, this was a short visit as well. Our final appointment was with the Dietician. Because Ella is breastfed, this meeting, too, was quite brief.

We were unable to see audiology and hopefully will have an appointment for that on November 27th along with our Physio therapist (who was also sick) and Occupational and Speech therapists (these positions are currently vacant and they are waiting to be posted and filled- this is dependant on the Alberta Health Services).

Thank you to all of you for your prayers and when it isn’t such a sunny day, I will tell you a little bit more about what’s been going on in our lives.

Yesterday marked the start of National Down Syndrome Week. To be honest I am not really sure of what that means to me or us. The thing about Down Syndrome is that it is not like diabetes or cancer where the organization primarily raises money to find a cure. You cannot erase an extra chromosome from every cell in the body and therefore Down Syndrome will NEVER have a cure. Likewise, it has always existed. So the National Down Syndrome Society instead seeks to promote awareness and equal opportunities for individuals with Down Syndrome. We have come leaps and bounds in even the last 20 years. Truthfully, their work has probably played a part in my own view of individuals with disabilities and, as a result, in my own small little world I feel Ella has all the same opportunities as Jakob.

Because of the uniqueness of Down Syndrome compared to other “disabilities” I find myself unsure as to how to respond to things like purchasing calendars (which I think Ella will be in) or other propaganda or promoting National Down Syndrome Awareness week. What do I want/expect people to do? First and foremost Celebrate! This week is to celebrate the contributions that individuals with Down Syndrome have made and to recognize that they have abilities and aspirations like any other.

A word that often comes up is ADVOCACY. The Canadian Down Syndrome Society is the voice of individuals with Down Syndrome and is therefore the voice of my Ella. Be an advocate and stop discrimination towards these individuals. That being said I must reiterate that we have been so blessed by incredibly supportive family, friends and strangers that love Ella all the same. Thank you.

www.cdss.ca

Summer has not failed to fly by and Ella is now two and a half months old. And a full two months they have been. Ella continues to amaze us with her progress and everyday she grows more beautiful. We have had many moments and many milestones. Here are just a few…

Calaway Park- Ella slept the whole day, but Jakob had a good time.

Ella’s first trip to the beach…sorta (it was just buffalo jump park but hey that’s as close as we get here in Alberta)

At the end of July Ella took her first plane ride to BC. There she was able to meet all of her admirers, go swimming for the first time, play with second cousins and experience the Sun Festival Parade, Granville island, Stanley park and all the other reasons we love Vancouver.

Just days after we arrived back home we dedicated Ella to the Lord. Despite the unknown, which is the root of all of my fears I can say confidently that I KNOW God has a special plan for my little girl – the same way that I know he will use Jakob in amazing ways. In front of family and friends we committed to raising Ella in the knowledge and love of our Saviour who created and sustains all life… and lives. We gave her willingly and with the knowledge that no matter what God has planned for her life, whether it be short or long, her life is His.

The statistics are staggering – In 2002 it was found that 91-93% of pregnancies diagnosed with Down Syndrome in the United States were aborted. Look at my little girl and tell me she doesn’t deserve to live. Parents of children with Down Syndrome know the value of every life and what a blessing it is to know that we will be surrounded by these people.

At 2 months Ella is weighing in at 11 pounds 23 inches which puts her in the 95^th percentile for little girls with Down Syndrome (the growth charts are different as children with down syndrome tend to grow slower and once full grown are often shorter than the average adult. For example the average height for an adult female with Down syndrome is 4 feet 9 inches.)

Ella has mastered smiling and chooses to do so often.  She continues to grow stronger and has rolled herself over from tummy to back a number of times.

On Monday, we went to our first Ups and Downs coffee morning (the Calgary Down Syndrome Society) and are looking forward to meeting more parents and kids who have been given this special gift of one extra chromosome…it kinda makes you wonder what went through God’s head when he orchestrated that. There is a whole new community to discover and get involved in and perhaps that is just one more reason God gave us Ella.

      

Many people have commented on how beautiful Ella is and if they didn’t know differently, would never have thought twice about her having Down Syndrome. And that is just it – Ella is after all, just a baby. She eats, sleeps and poops just like any other baby. And although I know that once she is done being a baby she will be just like any other toddler, and then like any other child, and any other teenager, I can’t help but wonder how my perception of her will change. It is so easy at this point just to forget the extra chromosome until I am faced head on with the Syndrome as I educate myself on potential health issues, best practices for early intervention and our daughter’s future. Nobody told me that children with Down Syndrome have a higher chance of having leukemia or epilepsy.  It is a tough reality to face. And one might say well it only occurs 10-30 times more often in children with Down syndrome, but remember that you are speaking to a mother whose chances of having a child with Down syndrome in the first place were less than one in 1000.

In this book that I am reading, Babies with Down Syndrome there are parent statements at the end of each chapter. I find it intriguing that some parents would be so concerned about the appearance of their precious little one when there are these lingering potential health issues. One little extra chromosome…

I said that there would be good days and there would be bad days. This has been a bad week. Ella is 6 weeks today and the emotional load of this reality as well as the hormonal imbalance finally caught up with me. At no fault of Ella’s might I add. I couldn’t ask for a better baby. She sleeps regularly from 9:30pm-6:00am, rarely cries and is ever tolerant of her big brother pawing at here incessantly. I just have to remember that this too shall pass and there is no sense worrying about things that haven’t even happened. God gave us the grace to accept the diagnosis and I am sure will carry us through whatever other health problems Ella might face.

For those that are interested here is the summary report that we received from the Genetics Specialist:

 

This letter is to summarize the information we reviewed about Down syndrome at the Medical Genetics clinic on June 29^th, 2009. As you are aware, Ella’s chromosome studies (karyotype0 demonstrated three copies of chromosome 21, confirming the diagnosis of down syndrome. Her karyotype is 47, XX, +21

Down syndrome is caused by a chromosome number difference. Chromosomes contain the genetic material inherited from our parents. Normally our cells contain 23 pairs of chromosomes, 46 in total. For each pair we receive one from our mother and the other from our father. Chromosomes are numbered from 1-22 and the last pair determines the sex, XX for girls and XY for boys.

Ninety six percent of individuals with Down syndrome have an extra copy of chromosome 21, trisomy 21 (rather than two copies), and have 47 rather than 46 chromosomes. This is what was seen on Ellas chromosome studies.

Individuals with Down syndrome have both features simiar to family members and features they share with other individuals with Down syndrome. Some of the features include eyes that slant slightly upwards, smaller ears, single crease across the palm and decreased muscle tone. About 40-50% has a heart abnormality. Ella has been referred for an echocardiogram to assess her heart.

Ella has features of Down syndrome including slightly decreased muscle tone, upslanting palpebral fissures, an epicanthal fold at the eye, single palmar crease on the left hand, and slightly increased space between the 1^st and 2^nd toes.

It is not possible to determine how Ella will do based on her chromosome studies. As there is variability in the development of all children, there is variability in individuals with Down syndrome. The majority have mild to moderate mental retardation and learn to walk and talk a little bit later than other children. They benefit greatly from early intervention programs that help them reach their maximum potential. I have referred you to the Down syndrome Clinic at Alberta childrens Hospital, which is a team of multiple health professionals that can help with that.

Individuals with Down syndrome are at slightly higher risk for certain health problems and it is important that Ella be followed by someone who can anticipate and screen for these conditions, such as a Down syndrome Clinic.

As previously mentioned, Ella has three copies of chromosome 21, which is the cause in over 96% of individuals with Down syndrome. This occurred during the development of either the egg or sperm and is known to occur by chance. We know that this is not caused by anything that the parents have or have not done. The incidence of Down syndrome is approximately 1 in 800 live births and is the most common chromosomal abnormality seen at birth. If you decide to have more children, the risk of having another child with Down syndrome is approximately 1%, if Krista you are under the age of 35 or your age-related risk if over the age of 35 (meaning the same risk as other women your age when over the age of 35). You are eligible for prenatal testing including first trimester screening which includes: 1. An ultrasound and blood test or 2. Maternal serum screening in a second trimester, which involves a blood test, and, or amniocentesis. WE would be more than happy to review these options with you early on in any future pregnancy. There is increased risk for other family members.

 

 

So there you have it…

Monday was a full day. From the moment that I woke up I felt anxious and irritable. This may have been, at least in part, the reason that Ella just would not feed, despite the fact that she hadn’t eaten since 9:30pm the night before. I rushed through breakfast and tried to quickly compose myself into a “confident, put together, emotionally stable mother”. Poor Jakob, probably didn’t know what hit him – why were we leaving the house so early and why was mommy so grumpy? Ben’s parents arrived at just before 8am to load up Jakob in their car and by 8:15 we were all on the road.

My heart of was full of uncertainty and yet there was a peace that we had not known a week ago. This was a reality and now down to business.

Our first appointment was with the Geneticist that we had originally met with. Ben’s parents joined us in the exam room while the doctor explained the science of Down Syndrome. Ella’s condition was not because of genetic history or anything that happened in utero but rather egg or sperm had originally had 2 copies of chromosome 21…in other words pure…luck? A one in 1034 chance to be exact (for a woman my age). The meeting was shorter than expected but I think it covered what we wanted to know.

From there we went straight to the cardiology department just down the hall. Aside from the looming possibility of a major heart defect, requiring surgery, it was an ultrasound like any other – fuzzy, distorted pictures of my little girl’s heart. It was beating… that’s mostly what concerned me. Next was and electrocardiogram for which they stuck about 15 stickers on Ellas torso, all attached to little wires. This would allow them to listen to her heart from all angles. It looked like something out of a science fiction movie.

At last the Cardiologist came in to discuss the findings. He awkwardly discussed the pictures with the technician in medical mumbo jumbo while we patiently…or not so patiently waited. He finally explained to us that there was nothing to worry about. The hole in the heart which allows blood to bypass the lungs in utero normally closes up after birth however Ella’s had not. This was quite common and would close up eventually – he seemed quite unconcerned and would leave it up to our family doctor as to whether it should be followed up on. Good news.

Our entourage took a break for lunch and then it was on to a meeting with the Down Syndrome Clinic. By this time our minds and spirits were quite fatigued and Jakob was more than ready for a nap.  We thank God for a supportive family and while we prepared ourselves to take in another large dose of information overload, Ben’s aunt took Jakob to the park. The nurse led us to the family center where we crammed into a small consultation room. She informed us of all the resources available. This would include a medical team made up of physiotherapists, occupational therapists, speech therapists, psychologists, nurses and doctors. She let us know about the Calgary based Down Syndrome society called “Ups and Downs” and of course the Canadian Down Syndrome society all of which provide, information, resources and support to those with Down Syndrome and their families.

And although this session was very informative I came out of it feeling that it was a little too post-modern for me. For example when asked about what type of stimulation we should be giving Ella the response was along the lines of “well it depends on the child, some children like to be held and some just get overwhelmed…” I’m a list person…JUST GIVE ME A LIST!

But perhaps this is just one more lesson that Ella will bring to my life. Down Syndrome is so diverse and each child reveals their abilities and disabilities in their own time. We will be forced to face Ella’s condition, as well as discover her gifts and talents on a daily basis. And there are many things we will not be able to know until the time comes. There is no plan, no map, no timeline or list and for those who know me, know that this is NOT how I work.

Ella is an amazing blessing and I am excited to see who she becomes, the potential that she can achieve and the impact that she will have on those around her. Here are some things that I know.

-          I know that she will look different than other children…and I know she will be beautiful.

-          I know that she will be intellectually challenged…and I know that she will have her own set of gifts and talents

-          I know that some days I will look at her and see Down Syndrome…and I know that some days I will look at her and see me.

-          I know that sometimes I will be embarrassed at her lack of inhibition…and I know that this will bless many people.

-          I know that this is going to be a challenging journey…and I know that God will carry us both through when we lose the strength to walk.

-          I know that she is my child and that I love her…and I know that she is God’s child and he loves her more than I ever could.

 

“Cast your cares on the Lord and he will sustain you.” Psalm 55:22

On June 8^th at 11:29pm we welcomed Ella Freda Ewert into our family. Our beautiful baby girl came with some resistance but with her chin up. I feel like this may be a theme that will follow her through her life – swimming upstream but with a smile on her face. You see, with the joy of holding the newest Ewert came the lingering concern that she showed signs of Down’s Syndrome. As a mother I could only tell you that the eyes were the tip off to my intuition. When I mentioned this to the nurse, she tried to reassure me with the fact that Down’s syndrome children often had a line straight across their palms. Much to her surprise, when she opened Ella’s palm one more sign was revealed.  The next couple of days were filled with a mosaic of elation, anxiety, mourning and everything in between.  With a little extra time, Ella learned to nurse however still developed jaundice with a bilirubin level of over 300 micromoles. (290 is critical). So she spent a couple days in her little tanning bed. As the hours passed we were encouraged by Ella’s progress in nursing and activity.

On day three,  Ella was doing well overall however the doctor admitted that he too, had independently thought there may be a possibility that Ella may have signs of Down’s and that we should go to a specialist to have her tested. When you have these doubts, all you want is for somebody to tell you that you are paranoid and have nothing to worry about. My heart broke as I heard him talk about the genetics specialist, trips to children’s hospital and tests for heart abnormalities. My perfect, beautiful girl…what would this mean?

To add insult to injury, Ella’s bili levels had gone up even higher and with my bags half packed they told me we would have to stay another night. Finally on Friday, 5 days later they let us go home. I welcomed the chaos of 3 grandparents, my dear Soren, and my family… all at home at last.

The Alberta Children’s hospital was prompt in making an appointment for us to see the genetics doctor and on Wednesday June 17^th, we had our first outing.  The ride in was stressful to say the least. The unknown lingering beyond the surprisingly welcoming doors of the hospital was paralyzing. For a healthy child like Jakob, it was paradise but for the mother and newborn whose future was on the line, it was the last place I wanted to be.

The doctor welcomed us into an exam room and began to get a bit of our family medical history – no history of genetic disorders, no toxic exposure, overall, healthy parents with no apparent signs of disease. So in this case, it would random and a one in 900 chance – it almost makes me want to play the lottery. The doctor, in her gentle way, said that usually, after physically examining  a child she can say 90% yes or 90% no. In our case, she could not commit either way. Ella had some key signs like folded over ears, a line straight across her palm and of course her eyes. She did however have better tone than most babies with down’s, she was quite alert and of course there is no history of genetic disorders in our family. As a result of her uncertainty she made a requisition for a chromosome count. People with Down’s have one extra chromosome, so instead of 46, they have 47.

We were able to get into the lab right away and they took some of little Ella’s blood…she didn’t even cry…but mommy did.

After what seemed like eternity, on June 23^rd we received a call from the Genetics specialist confirming that Ella had the extra chromosome.

This is just the short version of our life the past two weeks. What the future holds, nobody knows. We just keep going as we would under normal circumstances, continuing give Ella as much love as we have and introducing her to the world. We know very little about Down’s syndrome right now, except that the symptoms can vary widely. Hopefully on Monday we will meet again with the Genetics specialist and make arrangements to have an ultrasound of Ella’s heart and other tests specific to children with Down’s.

Please pray for Ella – that there would be little physical and mental abnormalities, and that the Lord will protect her in these early days. And please pray for us as parents – that we would process this in a healthy way and know how to best raise Ella and Jakob likewise.

After the hussle and bussle of all that has gone on this past season we decided to take a mini vacation to BC. It was wonderful and we were able to see lots of friends, family and sights. Even growing up in BC it has always been one of my favorite places with the beautiful scenery, rich culture and great people. We were able to spend Easter with the Johnson family which is always fun…there are never less than 25 people at the table, and Jakob was able to have some quality time with Grandparents. We did all of my favorite things, which include going to granville island, strolling the white rock pier and eating…of course. And the pictures explain the rest.

Well, sorry to say, that converting to a toddler bed did little except give a real good shiner to Jakob’s collection, when he jumped right off his bed. He loves jumping on his bed and does not love going to sleep. Here is the problem. Me, of course. I like rocking him to sleep and singing him songs. I have to say, I NEVER used to do this. He has always been go, go go and never liked to cuddle and bed time, as I mentioned before was- he was in bed and asleep shortly thereafter. In the last month, things have changed, why? I wish I could tell you. BUT NOW, there is this cuddly Jakob that comes out after he has realized that we aren’t leaving his room….(well at least he is not) until the morning. And he comes and sits on my lap (sorta-the belly is getting in the way) and I sing to him until he falls into the almost sleep and then put him in his bed. I just can’t stand to hear him cry. I know he is not hurt and not injured and will not be emotionally scared for eternity if I let him cry it out, but I JUST DON’T LIKE DOING IT- I also wonder how productive it actually is, because it seems to me, that it would just get him worked up rather than settled down. Tonight I let him cry long, oh I don’t know, about 20 minutes and I just couldn’t do it. This inconsistancy probably doesn’t help either. But what do I do. This fear lingers- in that I may or may not be able to sit and cuddle with him for a half hour when baby comes. So do I do it all the more now, for that very reason, or do I establish the iron fist and suck it up?

Yesterday marked the opening night for the Art’s Academy’s spring production of Charlotte’s Web. Jakob and I were able to catch a bit of the dress rehearsal and it looked great. Needless to say, Ben is very busy with that and we are like ships passing in the night as he takes care of Jakob until 3pm and then doesn’t get home until I am long asleep. Its exciting, however and Ben is loving his job at the Arts Academy and we feel great joy and peace in the fact that Ben has one full time job in the arts. (This was the goal- and not all that realistic might I add, anyone who knows a musician knows the struggles of industry.) He also teaches guitar and gets opportunities to perform here and there, so doesn’t loose that aspect of the arts.

I tried to upload a video that I took of Jakob today, however I am not technologically savvy enough to know how to convert the file into something acceptable, so I really do urge those on facebook to check it out. PRICELESS. For the rest, some pics of sunday pancakes and my little book worm. As cute as he is however, we have been having sleeping issues. This is new for Jakob. He has always been such a great sleeper. He could go to sleep on his own in his crib from day one and slept through the night at two months, however lately, he has been waking up at night, unconsolable, unless he is brought into mommy’s bed. This has taken a toll of mommy of course and I am feeling pretty exhausted, as I don’t really sleep when he is in my bed. So some friends suggested trying the toddler bed. The child then feels independant and apparently this has made a great difference in their toddler’s sleeping habits. I think we will give it a try.

As for me, not much is new on the homefront, which is a good thing. As my doctor says, “you aren’t even anemic” Apparently gestational diabetes and anemia are very common here among pregnant women. So we wait, we look forward to going out to BC for Easter and then of course the long awaited arrival of the very active being moving around in my belly as we speak.

Well, as always we had a busy week. It seems to be the trend these days. Last Saturday, being Valentine’s Day, Ben played at the Arts Academy Chocolate Dessert Evening. This was a great experience for him as he had the opportunity to play some jazz with a few other guys. Although, two of them (one being Ben) were Jazz virgins, they were fantastic and I think Gershwin would have been proud. Overall the evening was a success and I think everyone enjoyed themselves.

Alberta has this lovely day call FAMILY DAY in February and that fell on Monday. I think all provinces should adopt a stat between new years and easter, otherwise the stretch is just too long. As a family, we were able to regroup and relax, as I resisted the urge to find another painting project.

On tuesday, we went to the Calgary Flames vs. Vancouver game with our friends from vancouver/calgary. Yes, that is right, I witnessed the canucks win. It was ill-deserved and was only because of luongo (obviously) but I am proud to say I was there. Ben, the little trader, in between his “go oilers!” chants, cheered for the flames (BOOOOO!) until the canucks won, at which time he tried to play it off as if he were cheering for luongo the whole time. We had a great time, and boy was I glad to have the next day off.

The reason for my day off, in part was for our ultrasound of the baby. You know how it is – technicians can’t really tell you much but everything looked like it was there…no we don’t know what it is. An educated eye, I am sure could see either ovaries or an extra appendage, but we are that good. So that brings me to 25 weeks.

Here are some pics of the week for your enjoyment.