After a week of celebrating all the wonderful Unique babies I have met over the past year, I realized something was missing. Marigold’s very own story. And it is unapologetically a pretty epic one. So without further ado, here it is.
At our 5 month scan, a sonographer picked up on some short measurements on the baby’s femurs and we were referred to a consultant. We were naturally worried, but obsessive Googling brought up many stories of similar scan stories with no further issues, so we did our best not to completely freak out. The consultant discharged us after a few weeks saying it was just a constitutionally small baby and they would continue routine scans to check growth.
What with the polyhydramnious, testing for gestational diabetes, placenta previa and prospect of planned C section to contend with, constant coughs, colds, sinusitis and SPD, I think it is safe to say I did not glow during this pregnancy! But we were having a little girl and were overjoyed.
At around 36 weeks, another sonographer picked up on some dilation in the baby’s kidneys. We were immediately referred back to a consultant again that very day. We didn’t really understand what was going on. Why the urgency? The consultant carried out a very detailed scan then sat us down and explained gently that she had seen a few little things, things that in isolation would present no concern, but as there seemed to be a pattern, made her feel ‘uneasy.’ The short femurs, the dilated kidneys, a odeomus skin tag on one of the baby’s hands…..she offered us an amnio. We vehemently declined – I was due to have a baby in the next few weeks, what difference did it make? Then we went home and promptly fell apart. The next week, we saw a different consultant, who was more reassuring and felt it was just random things with no significance. But, seeing how anxious we were and in trying to help me best prepare for the C section I had to have (and was totally terrified about), she suggested we might do the amnio. At this late stage, it was very low risk anyway. People ask why we had the amnio. Well, I didn’t want to of course, they are not a pleasant prospect, but we wanted to be prepared in terms of ensuring we had the right team at the birth if there were complications. Two days of surreal waiting and they called back with the amnio results. It had come back clear for major trisomies.
A week later Marigold was born via C section weighing 6 pounds 12 ounces. She was, and still is, absolutely perfect.
The first three months
Marigold was tiny, golden-haired and beautiful in every way. The skin tag they had spotted on the scan turned out to be a tiny accessory digit which had ‘infarcted’. Easily removed under local anaesthetic, no problems, a lot of babies are born with accessory digits.
But more little issues kept coming up.
Marigold was a very congested baby. Sleeping with her in the room was like sleeping with a truffle pig. We tried everything. vaporizers, tilting the moses basket, saline drops, putting a cut up onion in the room (inexplicable old wive’s tale), giving her luxury steam treatments in the ensuite at 3am in the morning…it broke my heart sometimes listening to her snuffle away in the basket next to us. She was very susceptible to bronchiolitis and had a few episodes, one of which ended up with her staying overnight in hospital to be topped up on oxygen. Trips to the doctors to get her chest listened to became a regular occurrence.
Again, it didn’t seem like a big thing.
Marigold failed her newborn hearing test. We had to go back for extensive testing three of four times until they said she had passed, with one ear only just reaching the required level.
But lots of babies failed those early tests, didn’t they?
We got a call from the hospital asking for her to come in for a further blood test on the back of the amnio. I asked “Is there something wrong?” and was told no, it was all routine and they just wanted to close the file down with a final test.
Well, that wasn’t quite true.
Her feeding wasn’t brilliant, but I was busy running round after a feral three year old half the time, I didn’t really pay it too much attention. She fed in short bursts, often pulling off quickly.
I didn’t realize she was suffering from very bad silent reflux. When her weight dropped off the charts (we know now it was probably too painful for her to feed properly) the health visitor told me ‘not to worry’ and that ‘they all catch up.’
It seemed like just another little thing. A little thing that led to her having a major reflux apnea attack where the windpipe shuts off to stop fluid going into the lungs. One evening, after a feed, my beautiful Marigold started choking, stopped breathing for four minutes and lay blue and limp in my arms. By the time the paramedics arrived, maybe partly by herself or due to our cack-handed resuscitation efforts (take that paediatric First Aid course everyone) she was breathing again and we were taken to hospital in an ambulance to try and work out what had happened.
In hospital, they hooked Marigold up to drips and feeding tubes and assessed her for a dangerous swallow. Her swallow was fine. After another mini attack where she struggled to breathe and went grey, they suspected it might be as a result of reflux and started her on medication.
During the following days, I watched her tiny little body be swaddled up as she was put through an MRI scanning machine. This came back normal. She had an ECG. A PDA in her heart had not yet healed and would require surgery if it didn’t close within the year. Numerous blood tests all came back fine.
We felt so lucky that all the tests were not flagging up anything major.
But the doctors kept talking about seeing the genetics councilors. With Marigold’s medical history and some of her characteristics, I realize now they had all probably figured out there was an underlying genetic condition behind it.
The genetics councilors followed up on the amnio carried out before Marigold was born. They told us that actually, something had been found, and gave us her diagnosis of 3q11 trisomy mosaicism, a unique genetic condition.
We were both expecting and not expecting it.
Amniocentesis involves two stages. The first results are a rapid test to identify major trisomies such as Down’s, Edward’s and Patau’s. The second stage of an amnio is a full karyotype where cells are grown in a lab. What we didn’t know (weren’t told) is that during that second stage of detailed testing, they had seen something, but as they did not know what they were seeing exactly, decided not to say anything until they knew more. By this time Marigold had had her apnea episode, they were able to tell us what they had seen, that her rare genetic condition probably explained many of the issues so far, but that they couldn’t tell us what it meant for the future.
We left hospital that week shell shocked, exhausted and traumatised, but so very, very thankful to be bringing our beautiful girl home with us.
The months after that were relentless follow-up appointments with every department you could think of. At times, I wondered if I should just arrange for a direct debit to go directly to the hospital car park and onsite M&S, I was there so often. There was little time for baby classes and activities as I hared from one appointment to the next and got batted around the NHS referral system in the manner of a comedy pinball machine. It was a difficult time with further curve balls…a lot of further sickness…Marigold getting ill again just as we were about to go on holiday…the emergency EEG for suspected West Syndrome (which came back clear). I fretted and fretted over her development and progress. For many months, it was a hard place to be in. But with adversity comes strength and determination and together, as a family, we survived and have come out the other side with a new sense of perspective.
Every day, I thank the universe for how lucky we are with regard to Marigold’s health. Her PDA closed and there is no need for heart surgery. Her MRI, ECG, EEG were clear, which is incredible. One year on and in terms of her ongoing challenges, she has hypotonia (weak muscle tone) which leads to gross motor delays, delays with her fine motor skills and is still pretty susceptible to respiratory illnesses. Like a lot of children with genetic conditions, she has issues with her bowels (she will not thank me for telling you that) which are controlled with medication as is her reflux. She makes some serious noise but no words yet. She is undoubtedly behind your average baby, but with regular physio and occupational therapy as well as mummy’s hippy alternative therapies, she is making amazing progress and getting there in her own time. In Marigold time.
I know some of you will be reading this with sympathy and maybe a fleeting sensation of being thankful it is not you in our shoes. I know, as I would have done that too in the past. But please don’t feel sorry for us. Whilst I would take the sickness and the trauma of the past year away of course, I can honestly say I would not change Marigold for the world, as her challenges are what make her. Marigold today is the sweetest-natured, most affectionate, giggly, smiley, cuddly, funny amazingly beautiful baby girl who radiates beauty both inside and out. Everyone who meets her falls in love with her. She has taught us to love in a way we never thought possible and is an inspiration and a joy to all of us. It’s the biggest cliché, but we feel truly blessed and that she is a gift. Yes, I am sure there are further challenges ahead, but I largely feel so excited about the future, about what Marigold can overcome and achieve. And I know she will achieve so much.
After all, she has already become an internet celebrity aged 16 months, so who knows what else the future will hold?
Unique have been a fantastic support to us during the past year. It would mean the world to us if you might consider a small donation, in honour of Marigold and Chromosome Disorder Awareness Week: http://www.rarechromo.org/html/DonateNow.asp