Mia (age 7) and Cadi (age 5), Isovaleric Acidemia
As I sit here writing this article, a wave of emotions overcome me. It is only natural as I look through photos of troubled times when my children suffered a metabolic crisis or were admitted to hospital.
I have two children with Isovaleric Acidemia (IVA). I am eternally grateful to medicine and am lucky to have the close monitoring and care of consultants, doctors and nurses thanks to the National Health Service here in Wales. My story chiefly focuses on my eldest daughter who had a challenging start to life. She is a true hero.
On April 29th, 2011, Prince William married Kate Middleton however, she was not the only Princess to be born on that day! My first daughter, named Mia Gwenllian was born on April 29th, 2011 @8:23am weighing 4lb 5-1/2 oz. She was premature at 34+3 weeks. All went well with the birth and Mia appeared to be in good health. She was monitored well in SCBU and was feeding via NG tube on expressed milk. The nurses noticed Mia’s complexion change as the days went by, and by day 7, there were concerns of lethargy, a possible urea cycle disorder (which I had never heard of) and consequently, Mia stopped having milk immediately. Then things took a dramatic turn for the worst. Mia suffered seizures and was put in Intensive Care. On the 8th of May 2011, I had an early morning phone call…. Mia had deteriorated overnight and I was to come immediately with my family as things were not looking good. Looking back, I don’t think I realised the seriousness of the call. . . too numb to think the absolute worst, I rang my family and we drove straight to Glangwili hospital in Carmarthen, a 30-minute drive from home. Visibly emotional, I just prayed Mia would somehow overcome whatever this urea cycle disorder the Doctor talked about as I just stared at my limp, beautiful baby girl, lying there in the incubator with lines coming out from many places. (As I look through photographs of Mia’s first week, only now do I notice her complexion change and she looks unwell).
True to my optimistic nature, I had faith that medicine would help Mia get better and she was taken in ambulance to The University Hospital of Wales, Cardiff, which is just over an hour’s drive away. I will always remember the driver and Doctor warning me not to follow the ambulance as in case of emergency, they would have to stop and treat Mia. It was horrifying. But I knew somehow Mia would be fine.
As a healthy 30 year old and first- time mother, I just could not comprehend how this could be happening to my baby girl and to my family! Mia was diagnosed and treated for IVA. Thankfully, each day was an improvement on the last. Mia was reacting well to treatment. Following a total of six weeks in hospital, Mia was discharged and I was finally able to take my baby home. The consultant was unsure of what damage the ammonia (around 800 mark) had caused and to just take each day at a time. Mia suffered developmental delays and did not meet any of her milestones with the Health Visitor as a baby/toddler but she has certainly caught up by now!
Mia had many hospital admissions from birth til 5 years. Now, fingers crossed things are more settled. Any viral infection with vomiting or diarrhea would impact on her health and we would be back in our second home. The emergency regime really helped and our stay at hospital would be around 48 hrs. We all know how emotionally draining and stressful it can be. We were happy when in January, 2015 Wales included Isovaleric Acidemia to the newborn screening panel.
Fast track to 2019….. Mia is now approaching her 8th birthday. Where on earth did time go?! She is a happy, sociable young lady who is thriving at her own pace. She enjoys school and is making average progress in National Tests (pffft who cares about them!) In her spare time, Mia attends a performing arts class which she really enjoys. She is the bravest girl I know. The greatest role model to her sister, Cadi, who also has IVA (although did not suffer the complications like her sister). It is nice they have one another for support as they grow up and face further challenges with their health.
I do not really know what the future holds. I know my children will give 100% in all aspects of life and I will always protect them from harm. If I am honest, it scares me to the core when I read about the sufferings of children with organic academia. I am hopeful both girls grow up and lead as much a normal life as they can. I will try to keep them as healthy as possible and carefully keep counting those proteins!
Lastly, as I sit here writing this article, it is a reminder of how brave I am too. I am lucky enough to have a loving and supportive family and friends who are always there for me. With life being so busy, it is hard to find moments to reflect . . . A big tap on the back to us as parents for all we do in raising our beautiful rare disorder children.
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From the Spring, 2019 OAA Newsletter