Guest post: "After my daughter was born with albinism, I expected my son would be too"

[KiranMumsnet]

I was seven months pregnant when my genetic counsellor telephoned with the results from my amniocentesis test. I'd been waiting for this call for three months but I'd been imagining the outcome since my first child, Sadie, had been born with albinism four years before.

My daughter's snow-white hair and milky skin drew half the hospital employees to her bassinet-side, but only the cleaner suggested her unusually beautiful characteristics might be linked to genetics. At first I ignored his warnings, but, a few weeks later our newly formed family of three made the first of many visits to the genetics ward of the hospital.

At three months, Sadie was diagnosed with oculocutaneous albinism. This means she has little to no pigment in her skin, hair and eyes, and non-correctible vision that hovers somewhere near the legally blind mark. I'd cradled my tiny baby in my arms and tried to focus while our geneticist relayed the intricacies of DNA. She explained how albinism is recessive, meaning that both parents need to be carriers for the condition to manifest in the child. Then, she told us that any future children will have a one-in-four chance of also having albinism.

The numbers didn't mean much. Our second baby would have this genetic condition, or he would not. More pressing to me was deciding whether this mattered. To find out, I began reading. I read medical journals, memoirs, fairy tales and folklore. Then, I connected with other parents of children with albinism as well as people who have this genetic condition, and sought out medical experts. I dug into my past and unearthed distant relatives with albinism who lived more than 100 years ago and I contacted their descendants to find out more about them. I gained insight from all of these sources, but what I really wanted to know was this —will my daughter live an ordinary, happy life?

Only one person could answer this question.

Sadie is a plucky and confident five-year-old, with a roster of goofy friends and adoring relatives. She's a prolific crayon artist, a scooter enthusiast and a back-seat singer, and, driven by her keen interest in stories and with the help of large-print books, she's slowly learning to read.

None of this is remarkable, but that's the point. She's just like any other child her age. She still has snow-white hair and milky skin, and she now wears stylish purple glasses that help with her light sensitivity (although their impact on her visual acuity is minimal, as with most people with albinism). Strangers comment on her appearance, but these are, for the most part, compliments. More important than anything else is that she's happy. It's this happiness that helped me decide to have another child—whether or not they had albinism.

Still, I wanted to know the genetic forecast before my second child was born, so I underwent prenatal testing. This time around, I thought I was prepared to handle the results. But when my genetic counsellor told me that my son is a carrier for albinism but that he does not have it, my reaction surprised me. Instead of relief, or acceptance, I felt adrift. I could barely speak, rushing my counsellor off the phone.

I wept as I relayed the news to my husband. I couldn't articulate my emotions to family and friends and so avoided sharing our news for weeks. I realised that over the years and since I'd become pregnant I'd only imagined a white-haired second baby. A pigmented child had never strayed into these fantasies. Now, I was saying goodbye to the little boy I'd envisioned.

After my daughter's diagnosis I was given medical pamphlets about how parents can feel grief when their child is born differently than expected—with a genetic condition or a birth defect. These parents are mourning the loss of the child they'd anticipated. Some experts have connected this to changeling stories, where the parents believe that their child was stolen by supernatural beings and a different child was left in its place.

As a concerned parent and a folklore scholar I'd read the medical and the mystical tales but nothing prepared me for the sorrow I felt when I discovered that my second child would not have the same genetic condition as his sister. Over time, as my belly swelled and my due date approached, I became used to the idea of a pigmented child. When my son, Rory, was born he was brown-eyed, dark-haired, and dimpled with fat. When the midwife placed him on my chest, my melancholy disappeared entirely.

Now, at one and five, my children are busy companions and occasional rivals. They are alike in their enjoyment for sushi and fast running, and they have matching rosebud lips and button noses, but they are also entirely themselves—meaning different from each other—and I can't imagine either of them any other way.

Emily Urquhart’s book, Beyond the Pale: Folklore, family and the mystery of our hidden genes, is out now. (Published by Jacaranda Books)

We have one signed copy of Emily Urquhart's book to give away on Twitter. Follow @Mumsnetbloggers and look out for our competition tweets. The winner will be announced on May 23.

[YvaineStormhold]

My son has ocular albinism. Thank you for sharing your story. It's rare to see anything about this condition.

[prettybird]

I remember a girl at Uni who had ocular albinism (although I didn't know that that was what it was called).

She was just another student enjoying life - as it should be

[Doobydoo]

I do not understand why you would feel 'adrift' re your 2nd child not having the same condition

[Bearhugs43]

Because when anything differs from an imagined outcome it is normal to feel discombobulated for a while. Or adrift.

[DrWhooves]

My childhood friend had albinism, she had the same visual problems as Sadie but we are grown up now and it hasn't stopped her from having a career and DCs, the only thing she can't do is learn to drive.

[hownottofuckup]

Not the same but I imagined for 8 months that my second child was a boy, she wasn't. When she was born I loved her, I wasn't disappointed, but I did grieve the child I'd imagined in a way. It's a funny thing. (He turned up later though )

[Elisheva]

My dad is an albino.
There is a little girl with albinism at the school I work at. She has specially printed worksheets, an iPad linked to the interactive whiteboard, visits from a specialist teacher etc. She is doing splendidly.
I asked dad what special provision was made for him when he was at school (he's in his 70s). Apparently he was allowed a small telescope to help him read the blackboard and he had permission to leave his seat and go right up to read the board if necessary. Other than that, he says, nobody really gave it a thought!

[Scarydinosaurs]

eli what a different world it was then!

I've had the privilege of knowing a number of albino children, I'm always impressed with the robust attitude they approached the challenges they met, and shocked by the rudeness of the general public in their approach to seeing something 'different'.

I hope your children continue to be good siblings and that your book is a success.

[0phelia]

I grew up with albino friends who were siblings, on my road.

I was so jealous of their striking beauty! They were provided with pigmented contact lenses from when I knew them, A deep blue colour, but they didn't play with us on the beach.

But this post is more narcissistic blogging bollocks from another self-absorbed first world problems Emo parent.
nothing prepared me for the sorrow I felt in finding the baby won't be albino.
Good job you didn't find out they had Downs syndrome or something worse like a painfull life limiting genetic abnormality then!