Nobody Told Me About Leukemia

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…[gallery]

Marathon Monday at Alberta Children's Hospital

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

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