Discovering our baby has a condition
Once upon a time, a boy was born in January, beside the fire in his parents’ bedroom. He had 4 older brothers and a sister and he was ADORED. His mother was 40 years old, celebrating this milestone a few months before her eldest turned 21, and felt very blessed to be gifted with such a joy. Like his siblings, he was carried in a sling and breastfed whenever he wanted and life was just peachy.
When he was 5 months old and liked to sometimes lie on a blanket on the floor, he started to get bruises on his back. The first time, the family tried to reason what had caused this. He had startled in his mother’s arms; maybe that had somehow been the cause? The family often welcomed foster children… could some-one have hurt him? But he was never out of sight and hadn’t cried or been upset…
Two weeks later, he was having a bath with his mother and she saw a great fat purple-black bruise, like a slug, on his back near his shoulder. They had been at a birthday party with a bouncy castle but he had been in arms the entire time and nowhere near the castle….it was a mystery. The parents went to bed that night thinking “who can we ask for advice?” In the morning they thought of the lovely midwife, K, who had welcomed him with them. She was very clear. This needed investigation. So for the first time since his postnatal check, he saw a doctor.
“Tell me what you think it might be” his mother asked, as she was told to go to the hospital for tests.
The doctor didn’t want to guess. So the mother decided to list out anything awful she could think of so she would hear this expert deny it.
“Leukaemia” she said.
“He’s too young.”
“Haemophilia” she said.
“Your father would have to have it.”
He wrote the referral letter for them to attend the paediatrician in the hospital 30 miles away.
“No rush” said the doctor kindly. “You could go tomorrow.”
But she had to know as soon as possible.
She drove there that day and waited while the medics tried to get a blood sample from her distressed son. Then home and distractions, waiting to hear.
The phone call the next afternoon was quite casual.
“Something was a bit strange with one test. Please come in tomorrow to have it repeated.”
No clues, no hints.
“DON’T look on the internet” his aunt advised.
It was the day he turned 6 months old- Wednesday July 23rd 2008. She took a photo of him in a lovely outfit friends had sent from Australia.
That would always be the photo of the day the world changed. The day when not-knowing became knowing.
The blood test seemed harder.
They tried to get it from his foot. But the flow stopped before the vial was full. The junior doctor said he would go with the sample and implore the lab to try to test it, as they often found it difficult when there wasn’t enough in the vial.
The baby calmed and nursed.
“What does he eat?” asked the paediatrician.
“He’s fully breastfed. He‘s six months old today.”
“So you’re going by the WHO guidelines?” said the paediatrician.
“It’s what I’ve always done. He has 5 siblings from 21 to 4. None of them had much interest in solids before 8 or 9 months of age. The guidelines kind of caught up with me.”
“But you give vitamin D?”
“No. As I understand it, the issue is about sunlight and if we get 20 minutes even in December our pale skins can..”
“3 hours per week“ he interrupted impatiently. “We can’t tell Irish parents that… they’d park the babies down the garden for that length and burn them!”
The room began to fill with student doctors, some of whose skin colour at our latitude might need more than 20 minutes to get their requirement of sunlight for vitamin D so the conversation ended.
The bruises were photographed.
Somehow the time passed.
A nurse said “If we don’t find a blood-clotting disorder, we will be talking to social workers.”
She did not know what to pray for.
And then it was explained: it’s the APTT blood clotting test. Normal clotting time is 38 seconds but his was taking 73 seconds.
The doctor phoned a haematologist at Our Lady’s Hospital for Sick Children in Crumlin, Dublin.
“She says, a male with that clotting time, almost certainly it’s haemophilia. Go to Crumlin tomorrow and they’ll do more tests.”
Czars of Russia
Bleeding to death from a cut
That was all she knew
Lovely, blessed, cocooned ignorance
The phlebotomist in Crumlin was quick and sure when it came to taking a baby’s blood test so the distress didn’t last past a quick cuddle and breastfeed. The results would be available on Monday.
Somehow, the weekend passed.
There were lovely calls and emails from worried family and friends, promising prayers and candles and novenas and support. There was the usual family life of laundry and meals; routine things keeping a scaffolding around them as the world changed forever.
So on Monday, July 28th they were told he did indeed have Factor viii deficiency, Haemophilia A, severe. His body made no Factor viii (8), a blood clotting factor. The factors are like dominoes, the parents were told, so when 1-7 work fine , they try to set off 8 which is absent so 9+ can’t do their job. The most likely scenario was the baby would have bleeds into his joints which if untreated would cause arthritis. These would begin when he became more mobile and was walking so from around 2 years of age, he would need transfusions of Factor viii three times a week, for the duration of his childhood.
“We’ve never used a playpen” said his father. “Would it be helpful for him?”
“The bleeds are spontaneous” the doctor explained.
“What if we pad everything he might come into contact with when he’s walking?”
“The bleeds are spontaneous.”
“What if we…”
“It’s SPONTANEOUS bleeding” the doctor emphasised.
“Oh, so it doesn’t matter what we do?”
The hospital appointment explained many things. 30% of cases of haemophilia are new mutations, so having no family history. It’s rare enough.. About 100 people share the diagnosis in Ireland.
The specialist nurse and doctors assured the family the Factor was no longer from human blood but a recombinant product. Small children’s treatment was about €500 per dose, which the tax payer covered.
A social worker explained the supports that were available and asked them how they felt.
What the mother wanted to say was “stuff all the free meds and supports! I just want my little boy to be healthy.” So she said nothing. They went home with books, leaflets, a DVD, information about the Irish Haemophilia Society.
Time passed as it does.
The boy started to walk. He didn’t have bleeds.
She took him to Lourdes.
He turned two years old.
They dared to hope he might be in the 10% who didn’t have joint bleeds.
He turned three years old.
And then one day, on St. Patrick’s weekend in March 2011, his leg was swollen and hot and he couldn’t walk. So he and his mother stayed overnight in Crumlin for treatment with the factor viii replacement transfusion. The hospital discussed starting regular treatment.
“Maybe it’s a once-off? Can we wait and see?”
But at Easter, he and his mother were back in overnight in the hospital for treatment.
He began receiving treatment every Monday, Wednesday and Friday.
In July he had a port-a-cath fitted in his chest so his parents could do his treatment at home and not have to travel to hospital so frequently.
When they go to hospital they see children who are very sick and so they try to count their blessings and be grateful.
Sometimes the boy asks why does he have haemophilia and he says how wishes he didn’t.
So does his mother.
Monica, this morning I was lyingin bed counting my blessings having 2 healthy boys, and your son popped into my head. I thought of the hospital nearby where he has his treatment and I wondered how you had discovered his condition. Then hours later I logged on to facebook and here is the story. Uncanny. Thank you for sharing xxx
Thanks Niamh. Eamonn is really struggling now with the “whys” of his condition and treatment… I just hope he can learn to accept and make the best of it but it HURTS to see him in pain, dreading his treatment and questioning the unfairness of it all. xx
Hi monika ellie here. I met you long long ago at a parents weekend, I think I had only two sons then, cian and oisin, but now have 3, the younger 2 have severe f8.. I was charmed by your family and approach. Was astonished when clicked on link to story about having a child with a condition to discover the article was about haemophilia, which rarely comes up outside haemophilia specific sites. Enjoyed your description of the emotions and thoughts a parent has around the time of diagnosis, very honest and a good resource for other parents facing similar hours days and weeks. I wonder would you send the article to the ihs for inclusion in one of the nexr magazines or even just to have it reposted on the ihs mothers fscebook page and ihs fathers facebook page.
Anyway, was really nice to read your story, monika, hope to cross paths again, ellie
Hi Ellie, thanks for your .n.. yes I rememebr you.. I think you worked veg. restaurant? … and is John your husband?… and we met in Crumlin day ward too, I think. Happy to share this where you suggest, thanks!
Thanks Monica. You write beautifully. Eamonn is wonderful. He is blessed to have the parents and siblings that he has. I think that there is an untrue idea about health & sickness in our time. He is a lovely happy boy. I know that the suffering that he has to endure is hard for you to watch, its so hard to understand our crosses. with admiration,Carmel
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Thanks Carmel. Lovely to have your support xxx
Breaks my heart Monica 😦 love and light to you, especially wee Eamonn xxx
Thanks Emily. The prayers and support of people help so much. His transfusion went well yesterday, thank God. Hie sits on Oran’s knee, saying “Sacred part(!) of Jesus, I place all my trust in you” until he feels courageous enough for me to put in the needle.. and he THANKS me when I get it RIGHT FIRST TIME! XX