A Tiger and a Squeaky Mouse - Focus on Cockayne Syndrome

A Tiger and a Squeaky Mouse

by Lauren Spagnoletti

Your first pregnancy is supposed to be an exciting event and yet, from 28 weeks, I found myself on bed rest as my baby had stopped growing and was small.
At 30 weeks I had to have steroid injections to help develop the baby’s lungs but when I came out in a rash, we realised that I had had an allergic reaction and the doctors decided not to give me a second dose. At 33 weeks I had an emergency Caesarean and our tiny little Ryan was born, weighing only 1,6 kg.  He was perfect!! The tiniest little thing we had ever seen.

As expected he had difficulty breathing and had to be put onto a ventilator. He was on the ventilator for  a week, on oxygen for a week then an incubator for a week. We could only hold him when he was a week old and after three weeks in the neonatal unit, we could finally take our little man home.
This boy was a fighter from day one!
Once home I looked forward to a “normal” journey of bringing up a child. Little did I know that this was not going to be the case! At our first 6 month check-up, without any explanation it was suggested that we see a Paediatric Neurologist, as Ryan had a small head.  We met the Paediatric Neurologist and had an assessment, as we were literally walking out the door to leave, the Paediatric Neurologist dropped a bombshell out of seemingly nowhere, “your child reminds me of a child with Cerebral Palsy (CP) and I’d like to do some blood tests”.  We were completely thrown, did she just suggest that our son has CP?

We went for blood tests only to discover she was actually testing for something called Angelman Syndrome, I was furious so confronted her only to be told, “you can’t test for CP”.  Obviously the first thing we did when we got home was google Angelman Syndrome.  We were so upset, we thought our son was small because he was premature.

The next three years were spent with multiple experts trying to diagnose Ryan’s condition and there were many unofficial diagnoses given but eventually he was “labelled” CP. As he grew older it became apparent that he had limited vision and had to wear glasses and he also had to get hearing aids.  He never developed full language but used sounds and gestures to tell us what he needed and trust me, he always got his message across!! He had tight muscles so never developed the ability to walk, so to get around, he scooted around on his black bike or” bum shuffled” everywhere.

He had trouble feeding and vomited at every meal so we had to make the very hard decision to get a mic-key (a feeding tube inserted into his stomach), and we then had to feed him via a feeding pump at night for at least 12 hours.  His growth was so slow, he weighed 7 kg for three years and when he finally reached 10 kg, we had a 10kg party!!

We did everything in our power to give Ryan the best life we could; we tried every type of therapy and operation to better his little world. Our medical team consisted of a paediatrician, a dietician, an ophthalmologist, an audiologist, a physiotherapist, an occupational therapist, hippotherapy (the boys were lucky enough to horse ride at SARDA* for years and absolutely loved it) , a gastrologist and a speech therapist. Through it all Ryan was    a gastrologist and a speech therapist. Through it all Ryan was the bravest little boy I have ever met. He came out fighting to live and boy, did he live.
He was the life of a party, the little joker, a mischievous little monkey, no matter what therapy or operation we threw his way, he took it all his stride, always with a smile on his face. Everywhere we went Ryan was known. They say dynamite comes in small packages and this boy lived life to the full. He didn’t need us to “make” him normal, he was Ryan, our fighting Tiger!!

.After a lot of discussion, we decided we wanted to have another child and all our doctors felt that it was unlikely we would have problems a second time.  I will never forget when I was six weeks pregnant with our second, the doctor suggested we start doing more genetic tests on Ryan. All of them came back negative and we were over the moon and thought that this pregnancy would be stress-free but at 28 weeks, our doctors noticed the baby wasn’t growing as well as he should and yet again I was ordered to rest. Because of the bad reaction with the steroids the last time, they were not prepared to try those again.

At 35 weeks I had a C- section, and our little Matthew was born weighing 1,9kg. Matty spent 2 weeks in hospital, one week on oxygen and one in an incubator.  When Matty was about 3 months old, I noticed a milky film on his eyes.  It turned out he had cataracts which obviously affected his vision so he had to have his lenses removed when he was 4 months old.  This meant we had to put contact lenses in his eyes every week. It was a nightmare and something we both dreaded, we would both hold him down while one of us forced his eyes open and the other one put the contact lens in.  Matty was a gentle soul, he was so quiet and just absorbed all that was around him. He was quite happy living in his own little world. He was a lover, not a fighter.
Ryan and Matthew

He too had the same challenges as Ryan. He needed hearing aids, glasses and a mic-key. He had even fewer words than Ryan but when he got excited he used to squeak like a little mouse and that was quite often as he was such a happy little man. He was known at the hospital as the womaniser because he loved all the woman, his hugs felt like he was hugging your soul. He was such a gentleman, he used to shake the men’s hands and blow kisses to the ladies. He had many wives and girlfriends. Matty needed physio too. One beautiful day he crawled  and didn’t stop and I cannot even begin to tell you how incredibly proud we were, we were all in tears!! To further complicate things, Matty was “allergic” to the sun which as you can imagine living in South Africa, was quite a challenge!
The cataracts steered our geneticist into a different direction and she called us in to say that she thought the boys had a genetic condition called Cockayne Syndrome (CS).

Again we “Googled” it and were completely distraught with our findings.  I managed to connect with a doctor at Harvard and told him the boys were suspected to have CS. He had done some research on the condition and therefore requested some skin, blood and hair samples which we sent and a few weeks later the tests came back positive for CS. We were told that our boys were only 2 of 100 cases that had been diagnosed globally, no other cases at that stage were known in South Africa.  So after nearly four years of searching, we had a diagnosis.  There was a huge relief getting a diagnosis but also a huge amount of fear -could our boys really only have 5 to 7 years to live?  In the back of my mind I think I felt it wouldn’t happen to me.

In most things woman and men react differently to different situations. I wanted to talk about it and have a plan, and Paul wanted to bury his head in the sand. We went through very hard times, trying to understand how each other was dealing with it and got frustrated because we were both coping with the situation differently and we felt we weren’t seeing eye to eye. We started marriage counselling to try to see the other persons point of view and after two sessions it hit us. We didn’t have to react the same way, we actually complemented each other in the way we dealt with things. As long as we respected each other’s ways of dealing with it and our own way and try to meet in the middle every now and then. We learnt that there is no time limit to how you are supposed to be feeling, one day you are fine and the next you are not and that’s ok.

There is no question that CS completely changed my life, I came to terms with the fact that we were not a “normal” family. My life comprised of hospitals and therapists. One January Ryan was admitted twelve times. We knew all the hospital staff and felt quite at home at the hospital. We had to feed our children through a hole in their stomach- that is just not normal – and yet for us, it was!!
We had to get a double pram and a night nurse and our circle of friends got smaller as people just didn’t know how to react / relate to what we were going through. My life had to be adjusted for our medically fragile children.  People used to ask me “how do you do it?” I didn’t have a choice, they were my children and I was going to fight with every ounce of my being for them.

Having a child with CS impacted not only my lifestyle and my marriage, but me as a person. I was a very quiet, reserved person who would have never challenged anyone before let alone a medical specialist but I remember meeting a specialist one day and I obviously came across as someone who knew something and the Professor stopped and asked me,” are you a doctor?”. I was well chuffed and I knew then that all my hard work and research had paid off, I was an expert on Cockayne Syndrome. I stopped socialising as much and took life more seriously in a way, I realised life is too short to be doing things you don’t want to do and its definitely too short  to be spending time with people who aren’t important to you.

I have so many wonderful memories, we exposed them to as much as they could handle and we savoured every minute and treasured every little part of their being.  They got to go London a few times to meet other CS families which was the most incredible experience and I have formed the most amazing everlasting friendships. We even went to France for research and took them to Euro Disney.

I had the most wonderful highs with my two boys and of course some really hard lows but some things do stick out for me.  I think back on the time Matty’s tummy tube came out on a flight from London and we nearly had to do an emergency landing somewhere in West Africa, I was completely stressed out while Paul remained so calm. Or when I was admitted into hospital to have James, our third and healthy son, Ryan was so sick that the doctors allowed him to come with me while I had my Caesarian as they weren’t sure he was going to make the day. Having a new baby is normally an emotional experience but here I was, welcoming my third son, a miracle baby who was healthy, while my eldest son, the baby who made me a Mommy, was dying. The strangeness of watching life begin and end right in front of me was a pain I would wish on no one. What was supposed to be such a wonderfully happy day was very bittersweet for us, our family, friends and medical team.

Ryan aka Tiger, being the fighter he was, fought to stay with us like crazy, he was on morphine at home in our bed for two years, he had a stroke, went blind and fought seizures but this boy was determined to meet his new little brother James.

Ryan Peter Spagnoletti died 10 July 2012, aged 9 years old.
Matty, our little squeaky mouse, decided he wasn’t going to suffer like his big brother, not for one minute. He was riding his bike on the Saturday and left us early hours of Tuesday morning, without any real warning.
Matthew James Spagnoletti died 2 September 2014, aged 7 years old.

We lost both our boys 25 months apart.

You can never be prepared to lose a child but when Ryan passed away, we were so relieved that he didn’t have to suffer anymore, and that’s what got me through the first year, knowing he was free from all the pain and suffering but Matthew, that was a different story, I felt like someone had punched me so hard in the chest that I couldn’t catch my breath. There was no warning, he was just gone!!
Two boys with the same syndrome but two completely different personalities.

The day of Ryan’s funeral was so windy the balloons fought like crazy, wild and strong like Ryan.  The day of Matthews funeral was complete opposite. We released the balloons and they floated up ever so slowly and peacefully into the sky and gently drifted out of sight.

When I think that I should have three beautiful boys with me now and that James will now grow up as an only child, my heart breaks, that wasn’t my plan at all, but life doesn’t go according to plan all the time, sometimes you need to look at life through different eyes. Ryan and Matty definitely did, and what beautiful lives they were.
Ryan and Matthew touched so many people’s lives, I have never been to a fuller funeral, both the boys had over 400 people at their funerals.
They taught me the value of positive thinking, of family and true friendship, as well as overcoming adversity and being able to simply love, smile and live through it all. They made me a stronger, braver person, a person who wants to be like them, to love unconditionally, to see the good in people and to truly live every day!!

My husband and I are now writing a book about our journey with Ryan and Matthew and of course James, it is such a wonderful way for us to remember our boys and know that their memory will always live on.   Obviously this article is a very short version of my life with Tiger and Squeaky mouse but I would like to thank PatchSA for allowing me the opportunity to share my story.

In loving memory: Ryan Peter Spagnoletti and Matthew James Spagnoletti

SARDA – SA Riding for the Disabled  https://sardacapetown.co.za/