Sanfilippo has already devastated my husband’s family once. Lachlan’s oldest brother had Sanfilippo Syndrome. While planning our pregnancy, we asked doctors about Sanfilippo as we knew Lachlan was more than likely to be a carrier due to his older brother Quinnton. We were told “not to worry” as the chances of me also being a carrier were so small. After Matilda (Tilly) was born we requested a screening for peace of mind. Matilda's mother Kate shares her story...
We wanted a definite 'no' so we wouldn’t worry about her as she grew up. We were definitely not expecting anything other than “she doesn’t have it”. We sent in the initial urine test when Matilda was just eight weeks old, and after three weeks of not hearing anything we got the first phone call. They told us “there is a slightly abnormal result, can you please come into the hospital tomorrow for more tests”. A week later, on the day that Matilda turned three months old, we got the devastating confirmation that she had Sanfilippo Type A.
Since diagnosis, everything has changed, yet nothing has changed. Matilda is still a happy, healthy baby who is reaching all her milestones. We have more medical appointments than most families but if you took that away, our day-to-day life appears fairly normal.
Our experience of Sanfilippo so far is relatively easy compared to families who get the diagnosis after their child is symptomatic. But the reality our precious girl has a terminal diagnosis is always present. We feel immense pressure of making sure we are using our time as effectively as possible. One of our biggest fears is being told “you should have done this six months ago” or that we miss an opportunity to help her.
While most other families might be thinking about what school to send their child to, we are researching clinical trials, thinking about the NDIS and how we can adapt our life and home now to meet the needs of Matilda as she grows and the disease progresses.
We appreciate every moment, and take the greatest joy in all the small stuff – the giggles, the falls, the noises but we are always on high alert. If she struggles to meet a milestone bang on time we ask ourselves is she ‘just getting there in her own time’ or is it Sanfilippo raising its head?!
We still find it hard to fathom that our beautiful little girl, who is currently showing no symptoms, has a terminal diagnosis. Lachlan and I are affected in different ways. I know about Sanfilippo because of Quinnton (in fact we donated money to the Foundation in his name in lieu of bonbonniere at our wedding) but Sanfilippo is not new to Lachlan and his family. They have already been devastated by it once. Lachlan knows exactly what this diagnosis means for Matilda.
Just telling people is hard. How do you tell people that your perfectly ‘normal’ daughter has a disease which is always fatal? And that she only has a few years before it starts robbing her of her abilities? We are taking as much of a proactive approach as possible. While we know that current therapies and early intervention will not provide us with a cure, we’re hopeful that what we do now will help Matilda to have the best quality of life possible for as long as possible.
What we truly hope for is that Matilda has not been born ‘just too soon’. We are confident that there is an effective treatment or even cure out there. The science is so close... We just hope that she will have access to a trial or treatment before the disease progresses too far.
Thirty three years ago when Lachlan’s brother was diagnosed there was no hope and there was also very little information. Margaret (Matilda’s Nanna) tells me stories of going to university libraries in order to just find any piece of information she could on what the disease even was. Now thanks to organisations such as the Sanfilippo Children’s Foundation, there is information for families as well as groundbreaking research being funded.
We have already heard the phrase "one in a million" "it’s so rare" "no need to worry" a lot in our journey. If we hadn’t pushed, Matilda would have been symptomatic before we discovered she had inherited Sanfilippo. Ignorance may be bliss and we sometimes wonder if we have robbed ourselves of some carefree years, but had we not been prepared to ask the hard questions we would have lost this rare and precious time in which we can hunt down a miracle for Matilda.
(Since this piece was written, Matilda's family has grown to include baby brother Owen who is unaffected by Sanfilippo.)
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Please review our website's Understanding Genetic Risk page