It’s just after midday, I’m finishing up with a member at work, and my Apple Watch pops up with a call.
It’s from Melbourne. Who do I know that would be calling me from there right now? In my mind, it could only one person. The genetic councillor from VCGS who had my little girl’s genes looked at. My heart jumps up into my throat, and I answer the call out back.
After weeks of waiting and stress, I get the news I had been hoping and praying for.
Her genetic test results came back ‘normal’
While she did say the results aren’t always perfect, my daughter has basically wiped off congenital neutropenia as a possibility. The results that were also emailed to me today, and they said it’s correct by 99%, so I do hope she’s in that majority. 🤞🏻
There’s four distinct types of Severe Chronic Neutropenia, and this is where we stand:
| Autoimmune neutropenia | caused by an immune system malfunction, and often comes right in time, ie a couple of years optimistically. | ? |
| Congenital neutropenia | caused by an inherited genetic mutation, where she will have it for life and will most likely need a lot of management. | X |
| Cyclic neutropenia | has an interval period of normal blood counts followed by several days where the white cell count falls dramatically lower than normal. She doesn’t have this one. | X |
| Idiopathic neutropenia | has no known cause, and we don’t know what this would mean for her. | ? |
I’m hoping my daughter falls into the autoimmune category, as mentioned above most cases of it come right in time.
Autoimmune neutropenia (AIN) is most common in infants like Kaydes, and young children. It’s where the body identifies neutrophils as enemies and makes antibodies to destroy them. Symptoms are similar to those of congenital neutropenia, but they tend to be less severe. Treatment often involves medication which helps the body stop attacking itself.
Although my daughter’s diagnosis isn’t 100% clear yet, I am thankful that she’s doing well at the moment. I love the small things she’s up to. She has gone up in nappy sizes lol, and loves sharing food with me. Awww 🥰
We have a specialists appointment on Thursday 22 Dec, so that will tell us what is on the agenda next. It may involve a bone marrow biopsy, to see what it’s doing exactly.
Lore & Tempo is where motherhood meets adventure. I’m Ren – storyteller, explorer, and single mum in Wellington, New Zealand. I’ve been lucky enough to wander through 45 countries. 15 of them with my +1, Kaydes, either strapped to my front, on my hip, or running ahead on her own adventures. I created this space to share single parent life, travel tips, and the joy of exploring the world.
