Patient Stories

Àfrica's Story

We are Helena and Dani, Àfrica's parents, who is 3 years old. We have two other daughters of 5 and 1 year old.

When I became pregnant for the second time, we did not expect it so soon, but the joy was the same. The whole pregnancy was perfect, all the ultrasound scans went well, and our girl grew well. Two weeks before the birth, I began to get dizzy with the weight and was told by the doctors that an induction may be necessary and we were also told that Africa had a large head, but as in my family this was quite common so we didn't worry too much about it.

The delivery was fast and perfect. But when Àfrica came out her whole body was purple and she had a spot of the same colour from the forehead to the nose. Ultrasounds were performed to rule out malformations that may have been associated with the spots and everything seemed well. Now I realise that things weren't well, but at that moment I was more concerned about her feeding than the spots. I started thinking about it when people asked me what was wrong with Àfrica. The dermatologist came and told me that it was aesthetic and not to worry and for 4 months that's what we did. We assumed that it was aesthetic and that as Africa grew, it would disappear.

When she was 4 months old, we were referred to a specialist dermatologist and there began the magic words: genetics, pik3ca, ultrasound every three months of kidney, has one arm bigger than another, MRI to see if one part of the brain was bigger than another ... But we did not worry either. We were told at all times that our girl was fine so we decided to wait for the tests. At 7 months we got the result of the MRI and it was nothing we had expected. Àfrica had Macrocephaly with Hydrocephalus, Chiari Malformation and I do not know how many more things. It all came about because of that gene that had mutated during pregnancy and Àfrica was more affected than just aesthetically. The information we were being told began to sink in. Aesthetic we could still deal with, it had cost us to assume it, but it went without saying. Our girl was healthy. But the brain ... It was more serious. Nothing helped. Rage, helplessness, the desire to scream, crying ... Why her? She had just come to this world, she did not deserve anything of what was happening to her. All those emotions were like a mourning; a mourning that no parent would have to feel for their children. But the fact that Àfrica was still the same, happy and smiling, made us see that, in spite of everything, things did not have to be so bad. After 10 months, she was operated on due to her hydrocephalus and everything was perfect.

Then looking through the internet I discovered the American and Spanish associations for M-CM. At first, we were afraid. This was another step for the acceptance of what Àfrica had, which was another thing to make the situation more real. But getting in touch with them has been the best decision we have ever made for Àfrica and for us. Sharing everything we share there, even if it is the number and the brand of some shoes because our child does not fit normal ones, is a huge relief. You are among equals, and that is only understood when you have a child with difficulties.

Africa is a happy girl, advances at her own pace but advances, which is the important thing. We do not care about the future, what does it matter? The best thing we have is to live day by day and watch her grow up with her sisters

From here, we would like to thank our families and friends for all the support and love we receive every day.



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About Heidi Heidi Frost lives in the United Kingdom. She is married with three children. The eldest, Jack, was pre-natally diagnosed with profound disabilities when Heidi was 28 weeks pregnant, although he was 8 years old before he was correctly diagnosed with M-CM. Jack is now 17.

Heidi is a full time Mum to Jack and his siblings, and spends her time caring for Jack, attending medical appointments and negotiating the minefield of obtaining necessary services for her son.

Heidi created a website about Jack in 2005 and found that telling Jack’s story was an incredibly positive and healing experience and she is looking forward to assisting other M-CM families to do the same. In her spare time she enjoys writing about her life with Jack on her website and spending time with her husband and children.