“A boring pregnancy”. That is how my pregnancy was described by our doctor. It was so smooth. No morning sickness, my lifelong back pain got better, the only craving I had was fruit salad and I was so happy. The birth, however, was anything but boring. I was induced at 40 weeks, 48 hours in labor, 10 cm dilated and two hours of pushing before I was told my baby girl was posterior and I needed to have an ’emergency’ cesarean. I didn’t mind. I figured every pregnancy and birth is different. You can’t win them all. Even though I hadn’t planned on it, I didn’t care about the birth being a cesarean because I had my baby girl. We called her Mackenzie and she was pure perfection. I have never felt happier and more at peace with life.
My husband, Jonathan, and I had ten blissful weeks with Mackenzie before our world was destroyed.
At ten weeks old I took Mackenzie to a lactation consultant because she was finishing each feed by crying. The consultant mentioned she seemed ‘floppy’. I instantly felt worried and made a doctors appointment 40 minutes later. The doctor advised us we needed to see a pediatrician as soon as possible. Two days later we walked into a pediatrician’s office. He looked at Mackenzie and within two minutes he stated he believed she had Spinal Muscular Atrophy (SMA) type one. This was confirmed the next day by a neurologist. Our world fell away.
I shut down. Everything went blurry, muffled and I felt like collapsing. I remember looking at Jonny and said, “what just happened?”. We walked into that office thinking we just were lagging in her tummy time.
SMA is a “rare” neuromuscular disorder characterized by loss of motor neurons and progressive muscle wasting, often leading to death. In Mackenzie’s case we have been told it to be extreme, rapid and terminal. Whilst there are trial injections (like Spinraza) that help delay the onset of symptoms there is no cure. Our future is now to arrange the best palliative care for Mackenzie.
We are now going to have to watch our baby slowly loose muscle, movement, the ability to feed, to swallow and finally to breathe. The average age babies with SMA type one live to is nine months, with a maximum of two years (without extreme medical intervention, like life support). We are broken by our new reality. We can not speak, let alone breathe. The shock is enormous.
I cannot express the love we feel for Mackenzie. We may be biased but we feel she is the most beautiful baby that ever existed. Her smile melts us. All gums, blue eyes that sparkle and two gorgeous dimples each side. Not to mention her personality. She is all love, laughs and joy. Her future would have been limitless.
Now all we can do is make sure she smiles as much as possible through dancing, music, games, love and cuddles for as long as we can. We are focused on making memories with our baby. Mackenzie and I are lucky that Jonny brings so much entertainment and happiness to our family. He is Mackenzie’s best toy.
We had never heard of SMA and neither had our family or friends. However, we soon learned it is the number ONE killer of babies under two. How then can no one have heard of this disorder?
One in thirty five people are carriers of SMA. If two carriers have a baby there is a one in four chance of the baby having SMA* (please see below for research articles with more statistics and information). These statistics are astounding to us. This “rare” neuromuscular disorder is not so rare. Why hadn’t we heard of it. Why wasn’t it tested for if it was the number one genetic killer? We test for Down Syndrome.
We undertook all the tests offered to us before and during pregnancy including other genetic testing (harmony test), ultrasounds, fertility tests, pre-pregnancy health blood tests and even accupunture to get my body ready. But we were not offered this easy genetic carrier testing. This is because they only offer the test if you have had someone in your family who have had it. But 4 out of 5 children born with genetic disorder do not have a family history of the disorder. We have since learned that a person can find out if they are a carrier through a simple blood test during pre-pregnancy screening. The blood tests we chose to take (Counsyl https://www.counsyl.com/) test for 175 recessive genetic disorders including Cystic Fibrosis, Fragile X and SMA.**
Research shows that on average everybody carries 1-2 lethal recessive disorders (different research shows this number ranges from 1-5).*** We now have the technology to stop the pain, suffering and cost to families of terminal or life long severe disorders. SMA is not curable but it is 100% preventable.
Due to the new reality we find ourselves in, we are communication with the Australian State and Federal Health Ministers to try to create change for Mackenzie. We want to help raise the awareness of pre-pregnancy genetic testing amongst people planning a pregnancy and health care professionals. This testing already exists, people just need to know about it so they can make an informed choice. There is a general lack of awareness of these genetic tests even amongst health care professionals.
Whilst we know this genetic testing is a controversial topic, going through the pain we now are, we truly believe carrier testing should be routinely offered to people as part of pregnancy planning, even if you have already had a child. It is an individual decision. One you do not have to take if you do not agree with it, but the option should sit there to be taken up by those who do believe in it. Anyone who has not been told they have to watch their child die; that they will not watch their baby turn one, can not fathom the pain involved. We are not talking about genetic testing to pick eye colour, we are talking about terminal, life shattering disorders.
Now to give Mackenzie siblings we have to undertake IVF. The embryos created through IVF will have to be tested before they are implanted. An expensive process, but one we have to do.
My husband and I feel so lucky to have met our little girl. Mackenzie made us parents. She is the most special person this world has ever seen. More special than this world can handle it seems… We would now not change having her in our life no matter how short a time. But we should not have had to go through this. Mackenzie shouldn’t have to go through this.
We are also lucky in that our friends and family have joined forces around us to shower us in love, look after us and start a Go Fund Me page https://www.gofundme.com/making-memories-mackenzie-casella#
This leaves us free to focus on making Mackenzie’s life happy, comfortable and filled with love while she is here. We are making memories with Mackenzie. Finally it also allows us to do something important with this information we have been given. We will make change for Mackenzie.
ABOUT RACHAEL/ Rachael, Jonathan, Mackenzie and their cat Kaylee live in Sydney, Australia. Rachael and Jonathan are both Police Officers but have taken leave from work to make memories with Mackenzie in the months they have left. They are also trying to do all they can to raise awareness of pre-pregnancy genetic testing. Mackenzie is their first baby although they had a miscarriage before Mackenzie was born. They hope to give Mackenzie siblings one day. Mackenzie is their happiness, joy and passion.
REFERENCES & ADDITIONAL INFORMATION/
To learn more about SMA, please visit this site which explains the ins and outs of SMA in fuller detail: http://www.curesma.org/sma/causes-diagnoses/carriers/
**Although some countries, like Israel, do in fact routinely test for SMA and the disease has largely been eradicated from their population, (http://theconversation.com/explainer-what-is-pre-pregnancy-carrier-screening-and-should-potential-parents-consider-it-79184 ) Australia does not routinely test for SMA. We were not offered any genetic testing other than the usual chromosome test for things like Down Syndrome and the Harmony Test. The genetic testing that detects SMA, Cystic Fibrosis, and other recessive genetic disorders is something extra you have to ask for (unless you have a family history). This is the test that we want people to be offered in pregnancy planning! You have to seek out a genetic counselor who can arrange the test. In some cases General Practitioners can do it but we found they often they did not know about it.
Two companies that do the testing for recessive genetic disorders are:
The version we did is the Counsyl test, and we didn’t do it before Mackenzie because we didn’t know about it. After Mackenzie was diagnosed with SMA, we were offered the test to first, confirm we were both SMA carriers and secondly, so we can check our genetics for future children done through IVF.