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25 Sep 2018 at 12:00AM

The amazing Martelli family

Lara and Paul Martelli are very active members of our Unicorn community, with Paul being a member of our Consumer Advisory Group and helping at support group meetings in WA. Please read their beautifully written personal story below which they have kindly shared to help others who might be facing similar journeys with NETs.

1. Lara, can you tell us a bit about the impact of MEN1 and NETs on your life (and in your family)?

I found out that I had MEN1 when I was 12 years old. I had severe stomach pains one day which an ultrasound showed a large mass on my right ovary. I immediately had surgery to remove the tumour (which I presume was a NET) along with my right ovary and appendix. It was after this surgery that I was tested for MEN1 as my father had the genetic condition (deceased 2002 age of 41). It came back positive. I was then monitored very closely by an endocrinologist.

Routine blood tests for years later indicated high Chromogranin A levels. Fearing a return of my cancer I had a PET scan. The scan came back showing multiple intra-abdominal NETs. I had surgery to remove these tumours – A large vertical incision was made down the middle of my stomach. This was one of the hardest things I’ve ever had to face in my life as I was only 16. I was ashamed of my scar and couldn’t bear to wear a bikini or expose my scar in public. I also missed a significant chunk of high school and remember being so depressed because I just couldn’t understand why this was happening to me.

The following year whilst in my final year of high school I had surgery to remove a tumour on my pituitary gland which was initially suspected as causing my developing Cushing’s syndrome. In 6 months I gained 20kgs, reddish stretch marks, a round red face, a fat lump deposit between the shoulders, acne, and was constantly fatigued and tired. As a result of the unexpected and sudden weight gain I became depressed and shut-off from the world. The tumour that was removed proved not to be the cause and later had a bilateral adrenalectomy to relieve me of my Cushing’s syndrome. The surgery was a success and I returned to my ‘normal’ weight soon after, however, my body shape was altered permanently. This surgery has had the biggest impact on my life as I am now cortisone dependant which I require on a daily basis.

These events robbed months off my final year of high school. However I was focused and determined to graduate and go to University. I look back now I really don’t understand how I was able to overcome these obstacles – but I did, I graduated high school and went on to complete a Bachelor of Commerce.

A year later it was decided that I would need my thyroid, thymes and parathyroid glands removed due to my very low bone density and constant kidney stones. That same year I also had a second pituitary tumour partially removed. After this surgery I underwent 6 weeks of radiotherapy. I now have biennial MRI’s to keep an eye on that tumour.

Unfortunately In 2014 I was diagnosed with metastatic NETs to my pancreas, lymph nodes and vertebral column (backbone). From mid 2015 until December 2015 I had four rounds of Lutetium-177 Octreotate Lutate Therapy combined with Capecitabine and Temozolomide at Fiona Stanley Hosptial in Perth. Thankfully the treatment was a success resulting in my disease being stable.

Just when I thought I could return to some normality six weeks before our wedding day I suffered a bowel obstruction whilst I was at work. My stomach incision from my earlier abdominal surgery in 2007 was re opened and my bowel was “untangled” – the cause being adhesion scaring from multiple previous surgeries.

In 2018 I was 34 weeks pregnant with my first born when I had another bowel obstruction caused by adhesion scarring. Thankfully our baby daughter was delivered successfully but she had to spend several weeks in neo-natal.

To say it’s been a long and eventful road for living with NETs is an understatement. My MEN1 and resulting NETs have had a significant direct and indirect impact on my life. Nevertheless I feel that this disease has shaped me into being a stronger, more resilient, understanding and determined person who accepts whatever challenges and curveballs life throws at me with open arms.

2. Lara and Paul, can you tell us about your decision to undergo IVF, in order to ensure your baby did not carry the MEN1 gene?

IVF was something that we had discussed during the first 12 months of our relationship but never actively looked into until the time came.

Whilst at an appointment discussing Lutetium-177 Octreotate Lutate Therapy for my metastatic NETs diagnosed in 2014, we asked the physicians if the treatment would affect my fertility. No one could provide an answer as the treatment hadn’t been given to anyone as young as me who was also looking to have a family. It was here that Paul and I finally resigned ourselves to IVF if we wanted to have a family. We both agreed that we would never bring a child into this world knowing there was a possibility of it having MEN1 and resulting NETs. We were very determined to end this horrible gene with me so our children and grand children would never have to deal with what I had been forced to live with.

We then completed two cycles of IVF where pre implantation genetic diagnosis (PGD) was conducted and our embryos screened for the MEN1 mutation. These two IVF cycles were conducted prior to my treatment.

3. Was there any impact for you Lara, in terms of your pregnancy, having had NETs?

As well as seeing my obstetrician I also saw a general physician who monitored all of my blood tests and overall well being given my extensive medical history. I also had to adjust some of my medications and keep on top of my cortisone medication to help me through the pregnancy.

Apart from the increased monitoring I think my pregnancy was like any other for the most part. The biggest impact from having NETs however would’ve been the indirect impact from adhesions and scarring (from previous surgeries) that led to my bowel obstruction and early delivery.

4. Paul and Lara, what was the most surprising thing about your experience?

The amazing things modern science can do – we now have the ability to eradicate some of the most horrible diseases and conditions from the next generation. Hope is such a powerful and motivating force – IVF and PGD were able to make this a reality for us.

Another surprise was the amount of other couples that we observed using assisted fertility treatment. Couples of all different ages, ethnicities and backgrounds were using IVF – there is no stereo type couple.

5. What was the most challenging thing about the whole process?

Having patience and being positive. The process can be emotionally draining and difficult whilst managing work commitments, health and wellbeing, and life in general. So much of the process is out of your hands and control. In the early stages of IVF you spend a lot of time waiting - waiting for the embryos to become ‘viable’ and for the PGD test results.

Then there was the arduous two-week wait after implantation on a positive pregnancy result. Unfortunately our first embryo transfer wasn’t successful. We were however able to regroup immediately and attempt a second embryo transfer within weeks which resulted in the birth our beautiful daughter Mila in February 2017.

6. What was the most helpful thing to you both as you went through this experience?

The expertise and experience of the IVF specialists and obstetrician that assisted us was very welcoming. They assisted us throughout our journey, answered all our questions and made us feel as comfortable as possible throughout our experience.

Being positive and not thinking too much about ‘what if’s’ and worst case scenarios. Keeping busy during the initial two week wait and trying to live as much as possible a normal life assisted greatly during the entire process. You can drive yourself crazy thinking of different scenarios and outcomes – we however learned to take comfort in the fact that much of the process was out of control and learned to accept whatever will be will be.

7. What advice would you to give to someone contemplating this process?

Positivity and patience is key. It is a tiring and emotional rollercoaster but I would do it a million times over. When I look at my baby girl I feel a deep sense of pride and strength knowing that the fight against MEN1 ends with me - she will NEVER need to deal with it as I’ve put a stop to it. She is my greatest achievement in life.

   

 

 

Category: Advocacy
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