Alva from Sweden
On November 1st, 2019 our precious little daughter, Alva, was born and we couldn’t have been happier. I remember how we were lying in our beds at the hospital, refusing to sleep in order to just watch that beautiful little person who had entered our lives.
Two days after she was born we left the hospital, after leaving a few drops of blood for the Newborn screening, and since she is our first child our lives completely evolved around her. She was just perfect.
When Alva was 12 days old (or young I guess we should say), I woke up as my phone began to ring - and half-awake/half-asleep I picked it up. It was a doctor from the hospital here in Umeå, Sweden. She told me they had discovered that Alva had a high level of methionine in the blood test they took after she was born. She started talking about medications and diets and I just could not wrap my head around any of it. She asked us to come in and meether and a dietician that same day and so we did. That was the start o f a horrific week that really made our new ”baby-bubble-life” burst.
They drew blood from Alva every day for a week, after starting her on a very high dose of Pyridoxine (B6) that first day, to see if she responded to the medication. It was a real struggle to find her little veins in her chubby little baby arms/feet/hands (they even went for the skull a few times) and it usually took around 3 tries every day. It was heart breaking, but we knew it was for her own good, and she wouldn’t remember any of it.
Her numbers went up for the first few days before going down; the first day her homocysteine was at 44, then 79 and 100 before going down to 65, 63 and finally 39. So, they thought she was at least partially responding to the B6. With that information they told us I could continue to breast feed her as I already did, and a little over a month later they also gave her Cystadane (betaine) that we still give her twice a day. A week or two after starting with the Cystadane her methionine peaked at 160 and homocysteine at 40, before they came back down.
She began with small portions of fruit and veggie purées when she was 4 months old and then increased the amount of food slowly as she grew. To be honest, we did not have to adjust very much at all for the first 9 months of her life while breast-feeding, except for choosing vegetarian options when we bought ready-made baby-food.
We continue to feed her vegetarian food but not 100% vegan since we use some dairy products while cooking. She is now 2 years and 3 months old and eats around 20 grams of protein per day. She has had two injections of B12 during her life, but no other supplements since her levels of all other amino acids are within ”normal” ranges. When she was a little over a year our doctor wanted to try taking away the Cystadane to see if the Pyridoxine alone was enough. It was not. After being stable with homocysteine around 25-30 they went up to 52 in just a week so we went back to Cystadane and are now back to the lower levels. Our doctor is happy with anything under 50, but we’d like to keep it a bit lower.
As for now she is eating regular kids-porridge with fruit or some oat-based yoghurt with cereals and gluten-free bread for breakfast (around 3-5 grams of protein in total), and then two cooked meals of around 10-15 grams in total (can be one that is high and one low or sometimes two medium-high meals), before having regular baby formula in bed (2-5 grams of protein depending on amount). Her higher tolerance really makes life a lot easier for us, and we feel that we have many options when cooking for her. We feel so lucky! And even if she would have had a lower tolerance, we are thankful for the months of breast-feeding since it gave us a lot of time to read and learn, and have some trial-and-error-missions in the kitchen. Cook for Love is a great website that really has helped us a lot - and also the community on Facebook. Thank you all so much for taking the time to answer our many questions.
So, how is Alva today? She is just the most adorable little girl. Besides her food there is really nothing to tell her apart from other kids her age. She took her first steps a few days before turning 11 months old and now she is running around and climbing on everything in our home and at her preschool. She is very verbal and speaks extremely well for her age. (She did not inherit that ability from me since I was a really poor speaker as a child). She is full of energy and has already given her mothers a few grey hairs. Oh, guess I forgot to mention that earlier, but yes, we are two moms - so I gave her my HCU-gene (that I did not know I had) and she got the other one from the donor.
She loves to help out in the kitchen, both when it is time to do the dishes (water EVERYWHERE) and when we cook. Her favorite food is probably avocado, but she also loves pasta in different shapes and sizes, that we often serve with vegetarian sausages or a tasty sauce with either tomatoes or mushrooms. She is also a huge fan of beetroots so we try to use it in our meals - we have a soup that all of us enjoy! Other than that, we have a great taco pie with black beluga lentils and a tasty goulash as favorite dishes.
We are still struggling a little with trusting the preschool to cook for her (in Sweden all children get free food in both preschool and ”regular” school), but that is mainly due to our control issues - they are actually doing a great job and really try to learn as much as possible from us.
When Alva had just turned 2, she became the older sister to two adorable twin brothers. As I mentioned before, we are two mothers who have gotten pregnant with the help of a sperm donor and when we wanted a sibling for Alva we actually choose to use a different donor to minimize the risk of having the same diagnosis. Alva is really enjoying her baby brothers and she is very loving and caring around them - it is beautiful to watch. We really hope, and believe, that they will have great fun together.
To be honest, the thing we have struggled with the most is the lack of ”rules”. As soon as Alva was diagnosed we read about how pretty much everyone had a specific protein allowance per day. We figured that we would get one when I stopped breast-feeding - but that didn’t happen. We kind of just winged it and actually still do. We usually ask for new tests of her levels every three months, and as long as her levels are fine (around 30) we continue as earlier.
After reading all of the stories here (yes, I’ve read every single one) we feel thankful for the fact that the cost of medication and special food is never an issue here in Sweden. Until you are 18 all prescribed medication is free, and after that the government covers everything above ~$200/12 months. Since Alva has a higher tolerance we do not get any special food from our dietician, but if I have understood it correctly - the ones who need it only pay a small price for shipping even if they get A LOT (as much as they’ve been prescribed) of products in each shipment (I think it is around $20/shipment).
Of course, we do worry about potential issues/symptoms down the road, but honestly - doesn’t every parent? We try to control what is within our reach, and try to advocate for Alva in the best way we know how, and besides that we can only hope for the best. She is the best thing that has happened to us, and we are lucky to have a good hospital nearby with a doctor who listens to our wishes and answers all of our questions to the best of her abilities.
If you are a parent who has just found out that your child has HCU, we would say: It is okay - grieve, cry, be sad! That is part of the process. We can still feel really sad that this illness always will be a part of Alva’s life, but with the help of doctors and dieticians, and especially the great low-pro-community we will try to make it as smooth as we possibly can! Like most diseases - it is not fair, but we have to work with what we’ve got. Reach out to people, both family and friends, and again - the community that REALLY knows what you are going through. And don’t miss out on your child. Enjoy the everyday life, the moments you will treasure forever - they will all happen, and you do not want to be buried too deep in the emotions concerning HCU to miss out on all the magic that goes on in your baby’s life.
Added July 2022.