SMA… Do you know what these three little letters stand for? You need to…
All you need to know about the number one genetic killer in babies under two and one mum's fight to raise awareness for genetic testing..
See the beautiful smiley baby girl above. Her name is Mackenzie Casella or "Kenzie" as she's affectionately known by her mum, dad, extended family and now the many legion of friends and fans she has around the world.
Sadly baby Kenzie left this world to be a shooting star, "to dance in rainbows" (as her courageous mama Rachael likes to put it) when she was just 7 months and 11 days young.
I still remember the date I came across Rachael, Jonny and Kenzie's story on the @notsomumsyInstagram account. October 26, 2017. As you do when you're a breastfeeding mum trying to stay awake, I was scrolling Instagram when there in the dark I read the heartbreaking account of how Kenzie had just a few days earlier lost her battle to Spinal Muscular Atrophy aged just 7 months and 11 days.
Clutching my beautiful Maia extra tight and with sobs literally wracking my body, I did as Marcia prompted and went and followed Rachael’s Instagram @my_life_of_love (PLEASE GO AND DO THE SAME) and her blog My Life Of Love which both celebrate Kenzie's short but amazing life and detail her parents', Rachael and Jonnys, journey to make sense of this cruel loss of life while undertaking the unwavering mission to raise awareness about SMA - and all while riding the rollercoaster of emotions that come with IVF, which they're now undergoing to have another baby.
I can't even comprehend what any of that feels like, I probably never will. But their story has touched me deep in my heart and soul, which is why since that moment I have felt compelled to do something, as little as it might be, to help this brave family spread the word about the importance of genetic testing being made available to everyone planning a family.
Given Not So Mumsy's large following perhaps you're already familiar with this story, however, using some of the heartfelt words and information from Rachael's raw and beautifully articulate blog, I hope with this article I can do her the justice of spreading awareness - even if it's putting the right information into the hands of just one more couple planning to have a family.
Do not be mistaken into thinking that this could not happen to you because "you have had all the testing" - as you will read below, so had Rachael and Jonny. Just not the genetic screening test that would have saved them the heartbreak of learning of Mackenzie's grim diagnosis at just 10 weeks old. Imagine that. New parents for the first time (scary in it's own right!) learning that your precious baby will not live to see her first birthday. I can't even bring myself to write to words without tearing up. But Kenzie's death will not be in vain - if anyone will see to that it's her brave parents and their family and friends, who are campaigning tirelessly - from meetings with politicians to medical practitioners and IVF clinics too - to ensure that genetic testing not only be made available to all, but at an affordable cost too.
I truly believe that from the ashes of heartbreak comes hope, and it is my wish that at the end of the rainbow that Kenzie is dancing in, Rachael and Jonny find another pot of gold.
This is some of their story.
This is some of what you need to know about SMA.
This is my small part for #changeformackenzie.
What Is SMA?
- SMA stands for Spinal Muscular Atrophy (SMA). It is the number one genetic killer in babies under two but hardly anyone knows about it.
- Around 1 in 35 people carry this SMA mutation. Currently doctors only know to refer patients to genetic counsellors when there is a known family history of a genetic disorder. However, 4 out of 5 families do not have a family history (Rachael and Jonny didn’t).
- The Genesyte (this is the Australian version of the 'Harmony' test) at 10 weeks and / or the the nuchal translucency (NT) scan usually between the 11-13 mark which both screen for Down's, Edward's and Patau's syndromes do not screen for SMA. Getting the all-clear for these syndromes does not put you in the all-clear. Rachael's tests came back all-clear, and she had a great pregnancy too. However if the couple had undergone genetic testing they would have realised that they both carried SMA genetic mutation. But the fact is, that right now many healthcare professionals do not know about SMA, or how to access testing. This is what the couple are trying to change by raising awareness of Mackenzie's story.
Rachael's Quick Guide To Recessive Genetic Disorders
- Everyone is made up of unique genes which are the building blocks that make each of us who we are. Every person carries genes with mistakes. These mistakes can sometimes lead to genetic disorders.
- Recessive genetic disorders can be passed onto someone by their parents if both parents are carriers of the mutation.
- Some recessive genetic disorders can develop as random mutations and some only need one parent to be a carrier. If you are a carrier you may not have any signs of the disease you carry.
- Most people carry a range of genetic disorders they don’t know about, and without testing, may never know about. In fact on average most people carry approximately three lethal recessive genetic disorders.
- If a man and a woman that both carry the same genetic disorder have sex and create a child the incidence of them being affected are as follows:
- 1 in 4 chance that the child will not be affected
- 2 in 4 chance of the child being a carrier themselves
- 1 in 4 chance of the child being affected with Spinal Muscular Atrophy (SMA) like Mackenzie was .
- While genetic disorders like Spinal Muscular Atrophy are relatively unheard of you may have heard of some such as cystic fibrosis which is in the same family.
Carrier Screening: What You Need To Know
- Carrier screening is a non-evasive simple blood or saliva test. In Rachael's opinion, it's best carried out before planning to have a family, that way you can evaluate your risk and avoid passing something onto your child that could affect their quality of life and ultimately kill them. It's worth noting testing can also be carried out in early pregnancy, useful given around 50% of pregnancies in Australia are unplanned.
- Healthy children from previous pregnancies is not a safeguard. Given there is a 1 in 4 chance a child can be afflicted. There are cases where people have had three healthy children and before having one affected with a genetic disorder.
What Tests Are Available in Australia
Test name: Foresight (formerly Family Prep) Believed to be one of the most thorough tests in the world, and both Rachael and Jonny have now done this test.
Cost: $629 per person and tests for 175 recessive genetic disorders. Both parents tested or to make it cheaper just the female can be tested (given some disorders like Fragile X are only passed on from the mother). The results can dictate whether carrier testing on the man is necessary. The company is based in America but there are genetic counsellors based in Australia who organise the test, explain your results and give you genetic counselling if needed.
How To Make It Happen: To do this test you need to get a referral from your GP to one of the Counsyl Genetic Counsellors in Australia.
Company: Victorian Clinical Genetic Services (VCGS)
Test: The VCGS tests for the ‘top’ three devastating genetic conditions being SMA, Cystic Fibrosis and Fragile X. As with the Foresight Test, to make testing cheaper you can start with just the woman being tested as Fragile X is only passed on by the biological mother, if she is a carrier. Although if the test is being done when you are already pregnant, Rachael believes it's best to test both parents at the same time. If you are both carriers of the same disorder this allows for time to look at your options.
How To Make It Happen: The clinic is based in Victoria, Australia and is actually very easy to do (although most doctors don't know about it and may dismiss your request). Simply go to your doctor, give them the name of the VCGS and ask them to write you a referral, email the referral to VCGS and they will actually send you a saliva kit in the mail.
How You Can Help
READ & SHARE: Read more of Rachael's beautiful blogs and all about Mackenzie's diagnosis, dealing with grief and the couple's IVF journey at My Life Of Love. Share Rachael's links / story and social handles to as many friends as you can. The more people who knowt Mackenzie's story and the greater the awareness for genetic testing and reaching the powers-that-be to make it a mandatory test for family planning..
FOLLOW: You can connect with Rachael on Instagram @mylifeof_love She is raw, honest and funny. Sometimes there will be tears, so bring tissues.
DONATE: You can make a donation to any the following institutions who have been an enormous support to the Casella family
- Sydney Children's Hospital - in particular the Neuro Muscular Team led by Dr Michelle Farrar that specifically researches SMA https://www.schf.org.au/donate
- The Royal Hospital for Women - who supported the family during Mackenzie's birth and passing. They have also helped raise the awareness of genetic testing https://www.royalwomen.org.au/donate
- The Starlight Foundation - gifted the family a trip to Broome straight after Mackenzie was diagnosed. In turn they gave them memories to treasure forever https://www.starlight.org
For more ways you can help see Want To Help on Rachael's blog.