This is a reminder to trust your gut. Always trust your gut. I wish so much that I was off, but I am learning that we are given these instincts and intuition for a reason.
I remember the nurse placing Lorelai on my chest so I could see her and Justin on my chest too while the obstetrician stitched my belly up. That hair, that white hair… I remember thinking, “I wonder if she is albino*…” I asked the nursing staff later on in the hospital and they light-heartedly brushed it off and said she is just very blonde.
Lorelai often spews after or during feeds. It often comes out her nose. I’ve mentioned this so many times to various health professionals, both at hospital and the regular check-ups we have for the babies. On a Facebook group someone had the same issues with her baby. A speech pathologist said this is something that you need to see a speech pathologist for. I would never have known a speech pathologist would see a newborn for issues like this. I private messaged the speechie that said to get a referral and she explained a few things to me and why we might want to see a speechie.
So, I asked for a referral for Lorelai to see a speechie. Was told it’s not necessary and she’s feeding well, putting on weight and it’s normal for babies to spew. I insisted on a referral anyway. A speech pathologist called me and asked me so many questions and decided she needed to see us urgently to watch a feed and see what’s going on. She booked me in for the following week.
I have noticed that when I play with Lorelai, look at her, do tracking exercises that it is very hit and miss with her. Mostly miss. It’s like she is looking through you not at you. Like she can’t see you. I brought this up at her first and second check-up after returning home from birth. Both times they looked and said there’s nothing to worry about… but hat nagging feeling inside of me wouldn’t go away.
Long story short, the twins have been very sick and were in hospital for almost 2 weeks. Justin had breathing difficulties. Justin was admitted on the Friday night and monitored. He seemed to come right by morning. Lorelai stayed home with me and would only settle when Jeremiah cuddled her to sleep. Justin come home on Saturday. Both he and Lorelai continued to progressively get worse. Their little lungs and bodies trying to cough was quite hard to watch helplessly. Made me realise why whooping cough is so lethal for babies.
She only settled with Jeremiah.
My heart melts
The hospital kept Justin’s bed open overnight in case we had to come back. We monitored him and Lorelai closely at home. They both seemed to be working harder than usual to breathe. The hospital called us on Sunday to ask how Justin was and how Lorelai was too. We had already been talking about if we should take them to emergency or not. How do you know if it is bad enough to go? We don’t want to be presenting to emergency every time they get sick. Sometimes what we might think is bad actually isn’t… but what if we miss something and then should have taken them in? Anyway, the hospital said to us to bring them both in because they wanted to check them over before a doctor went home.
So we packed up a few things and drove both twins and Jeremiah to the hospital. They did their obs and very quickly Justin was placed on oxygen. His little body was working so hard and his levels weren’t great. He was on oxygen for a few days.
Justin was so sick and so miserable. Took ages for him to finally sleep.
While I was feeding Lorelai as a nurse fed Justin and Jeremiah played, I raised my concerns about Lorelai. And while feeding her she did a projectile vomit, out the nose too. The nurse said to talk about these concerns with the paediatrician in the morning because he is really thorough and will investigate it if he thinks she needs it.
When the paediatrician did the rounds in the morning, he listened carefully to our concerns. He got in touch with the speech pathologist Lorelai was due to see later in the week and the appointment was quickly upgraded to an X-ray feed where they watch where the milk goes using an x-ray machine.
So if you’re having any issues with feeds or anything else. Seek answers. Push. Find the right person who will advocate for your little human. The issues we were having include but aren’t limited to; gagging, spews, coughing, slow feeds, long time to attach or coming off, watering eyes, arching back, crying in pain after feeds, and some other things I can’t remember now.
We had that x-ray ultrasound the next day, there’s usually months long waitlists. I realised they also thought my concerns were valid as the 6 people behind the special x-ray machine shield talked and the specialist standing with me told me a little about what they were saying about her swallowing so I could watch the screen and understand what I was seeing too. The X-ray showed some abnormalities with the feeding. Lorelai was aspirating when she was drinking. What that means is that as she was drinking, some of the milk was going down into her airways, and thankfully coming back up. The risk was/is that as she tires during a feed, milk will go into her lungs, and potentially she will get very sick, things like pneumonia. So I’ll explain what this means now for her and us in a minute…
Lorelai in the machine.
So we drove from the bigger hospital back down to our hospital, back to where Justin was. He is a ladies man, all the nurses had enjoyed their cuddles with him – I don’t think he had missed us one bit.
On the same morning of the video x-ray swallow study, a specialist ophthalmologist called in a favour to our paediatrician to come visit Lorelai to assess her eyes. As I said above, I had noticed something a bit ‘different’ with them but didn’t know how to describe it properly. There was this almost rim around her eyes that seemed translucent. And when I tried to do tracking things with her, she just didn’t seem to follow. It was as if she was looking through me, not at me. I had concerns that she was vision impaired. I wondered if I was reading too much into it, but my gut said something wasn’t 100% here. Her eyes would move back and forth, plus she would squint or close her eyes in bright areas like outside.
You can just see the rim around her eyes.
The specialist brought out his special equipment and really checkout out our little girl’s eyes. And unfortunately, our concerns were substantiated. He confirmed that our little girl is legally blind. He said she has some vision because there is some pigmentation there but there isn’t much. The one thing I had hoped was that she would be able to drive, and this is now no longer an option for her. This final step in her diagnosis confirmed that our little girl has Oculocutaneous Albinism (OCA). OCA is a rare inherited disorder (although I like to think it is a beautiful condition reserved for a few special people rather than a disorder – it is estimated only 1,500 people have albinism in all of Australia). OCA is characterised by a reduction or complete lack of melanin pigment in the skin, hair and eyes. It is caused by mutations in specific genes that are needed for the production of melanin pigment in cells called melanocytes. This results in abnormal development of the eyes resulting in vision abnormalities. OCA comes from both parents being carriers of the genes. Lorelai also has nystagmus which is involuntary side to side eye movement and photophobia which is sensitivity to light. She has foveal hypoplasia which affects visual acuity and mis-routing of the optic nerves. The light skin is susceptible to skin damage and skin cancers. There are seven types of OCA and we are awaiting results from genetic testing to learn which particular one she has. Only time will tell how severe her eyes sight is.
Lorelai also had a brain and renal ultrasound which came back normal however the paediatrician still wanted to have a brain MRI done. That was scheduled quite urgently and we managed to get that done. It was so hard to do because they have to lie still but we couldn’t have her sedated this young. Took a lot of patience and the staff at the mri place were amazing, particularly the male in charge of it all. He was incredibly patient and helped us get Lorelai in calmly after a few attempts. Thankfully they got most images they needed and all came back clear.
Lorelai also had her first blood test attempts. Twice they tried and couldn’t get enough blood. Oh it was horrible to hear her quiet, horsey cry and screams. She recovered so quickly though – what a brave girl we have.
Getting her first blood test (attempt anyway)
So in a bit of a summary (if you’ve read this far), beautiful Miss Lorelai has a few areas of special/additional needs. These are, feeding, OCA particularly vision, Low muscle tone and her immune system issues.
For now and for the forceable future, Lorelai has a very strict limited amount by mouth of either thickened breastmilk or thickened formula which will hopefully increase over time if she improves. She has a strict timeframe to drink it and what isn’t drunk in that window has to be stopped and discarded (to reduce her fatiguing and then therefore aspirating as she tires). The rest of her milk quota is done through a nasal gastric tube (NG tube). This is a tube through the nose and down into her tummy. It has to be changed at least once a week by a hospital visit (45 minutes each way). So far this has been more frequent than weekly as the tube tends to come out a bit, or the size was too big, she was having trouble breathing, etc. So we are becoming regulars at the hospital – not something I ever imagined for our family.
If she’s having a feeding tube we may as well have it in style thanks to a little company called A Simple Patch. So cool hey!
Meal prep for 4 feeds for each twin.
I think she is trying to see something during her tube feed.
We also have to be very strict with her feeding position. She has to be in an L-shape with her head raised, bum to my tummy. This also reduces the aspiration risk. When doing the gravity NG tube feed she has to be head raised and often wants to be held. We encourage her to take the dummy to try and develop her suck during the feed. The feed for her takes around 30 minutes to an hour from start to finish. It takes around an hour to prepare all of the various things needed for four feeds for Lorelai. And then the steralising afterwards too. I have learned so much about alternative feeding since having our gorgeous girl. The hardest thing to learn to do was testing her stomach acid prior to feeding. It isn’t fun drawing up liquid from my little girl’s tummy, but we have to do this to make sure the tube is in her tummy and not her lungs for each feed. It is particularly challenging feeding two screaming babies. I have to pick one and feed then feed the other – different to how I had planned to feed twins which was both at the same time.
We also have to monitor her vomiting. She vomits so much and so easily. She has a very strong gag reflex. If anything enters her mouth she gags and spews. This can also dislodge the NG tube meaning more hospital visits.
OCA and Vision:
“OCA is inherited as an autosomal recessive genetic condition. Recessive genetic disorders occur when an individual inherits an abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.” https://rarediseases.org/rare-diseases/oculocutaneous-albinism/
It was a lot to take in when she was officially diagnosed/labelled OCA. And my way of coping is to crack a few jokes. So I awkwardly cracked a bunch of vision jokes with the specialists, saying “I guess we will keep an eye on her then…” there was awkward silence from them so I followed it up with a cracker, “See what I did there?!” Over time our paediatrician has gotten to know my sense of humour. I’ve even managed to get him to crack a few jokes (he reminds me of Dr House from that TV series with his dry/dd humour, yet comprehensive approach).
I just remember thinking in my head, as it felt like it was exploding and in a different dimension where this wasn’t happening to our little girl, but my heart was feeling like God had let us down. It was the one thing I didn’t want for my girl. I have always, always yearned for a girl. To have a mother daughter relationship. When I found out one baby was a girl I was over the moon happy. And to find out that my girl, my dream, has such complex issues broke my heart a bit. Not because I think she is defective, she’s only sheer perfection to me fyi. More because I know she has lifelong challenges ahead of her. Over the last 2 weeks I have felt like God has been reminding me that He hasn’t let us or her down. He has given us such wonderful blessings. And I am reminded back to my days as a young, naïve, yet optimistic and dream-believer teenager, that I wrote down in my diary something along the lines of “my hands will be used to touch/help thousands of others.” That was my goal for my life back then. I just wanted to help others. I didn’t know how at the time. But through our IVF journey, our miscarriages and then our beautiful miracle Jeremiah, and now the twins, God has done exactly that. He has used my hands (through the blogs) to help thousands (and I don’t at all mean that in a self-gratifying way, it’s quite the opposite – God has used our story and our lives to do far more than we could have ever done to help others if we’d have had an easy life). I’ve had so many people contact me about our IVF journey and miscarriages that I have been able to give some help/support/hope to. So there was so much purpose in our heartache. And now this. Perhaps through this we will help others as so many have already helped me as I have been on my quest to understand what this all means. Thank you if that is you – you all know who you are.
Our paediatrician is still investigating Lorelai and running a range of tests for an immune condition. He seems to think that she may have an immunodeficiency/ autoimmune compromised disorder. And what this means for now is that she can’t have any of the live vaccinations and nor can Justin because there is evidence to support that people with these immunes that are compromised may pick up the thing that the vaccination is trying to prevent them from getting (because it is a live vaccination). I don’t want to start a vaccination debate here – this really isn’t the time or place for it so please don’t even start – any comments will be deleted). So both her and Justin will have to rely on herd immunity to not get sick. It also means that any fevers around 38 will require hospital for her (with Jeremiah we just watch and observe and don’t get too concerned until it reaches around 40 degrees). It also means she will probably get sick more frequently and we really need to protect her by making sure no one comes into contact with her (or us) if they are sick – this is so so so important and also very hard to enforce. We have to be so very careful with her because she is prone to being sick and her little body isn’t strong enough to fight hard.
Going for her brain ultrasound.
Going for their ultrasounds – Justin was still on oxygen.
Turns out twins really do have a special bond.
After the video x-ray learning the new feeding position for bottles.
Probably doesn’t need a caption, but I love the rawness of this photo.
Rocking the tube!
Low muscle Tone:
She has low muscle tone which means she is seeing an occupational therapist (OT) and a physiotherapist to help her improve this. Our paediatrician seems to think everything above is all linked and he is trying to get to the bottom of it all – he said we should expect another diagnosis in addition to the OCA.
So trust your gut ladies and gentlemen. If you’re not being heard, insist. Seek information elsewhere. If I hadn’t seen the post another lady made and if another speech pathologist hadn’t told her she needs to see one then I wouldn’t have asked for a referral and we’d have possibly unintentionally endangered our little girl’s life. And if the paediatrician who first saw us on entry at the hospital when Justin was sick was the only one we saw, Lorelai still would be undiagnosed. I’m forever grateful that God brought us to the hospital when we went, for the nurses that wrote in the notes my concerns so that the right paediatrician for us could see us. He is brilliant and we are so thankful. Of course, I don’t want these labels for our daughter, but living in denial doesn’t change anything. That would just prolong the help and early intervention that Lorelai needs. Yes, this is so exhausting. Of course, having kids is exhausting. But having a beautiful older son with complex additional needs and now newborn twins, with many additional needs (Justin was easier but he is having terrible feeding issues too now and is also being seen by the speech pathologist, OT and physio) has really drained us in so many ways. Mentally, physically and financially. Did I mention I re-fractured my back in two more places a week and a bit before we were admitted to the hospital? The almost 2 week stay on pull out beds definitely didn’t help my back.
Our request is prayers for Lorelai and for her future. God is a God of healing. We pray that he restores Lorelai’s vision – that would be such a miracle, but if not, that she has better vision than predicted. That she develops well (they are saying she will be behind on all of her milestones due to many reasons E.g. her low muscle tone). They are trying to find what else is the cause/diagnosis.
We are still dealing with this as best that we can. Knowing our little girl is vision impaired leaves many questions unanswered. Will I be able to return to work or will I have to be a carer full time? Financially how will we provide for our children but particularly her and her needs? How will we make our living environment set up for a vision impaired child? So many questions but we know God holds the answers and will lead us through. We decided to once again share openly because when we are open, we can help those walking a similar path with their family or their own lives. When we keep it to ourselves, we limit the potential for greater good that can come from our own mountains that we need to climb.
To teach Jeremiah not to pull out Lorelai’s tube (he wants to help her not ‘hurt’), we got him a doll and attached a tube. He took it to daycare to show his friends.
Lorelai Grace Merle – my Nanna would be so proud of your resilience.
I remember driving back to the hospital after having a night at home so that I could be with Zazu (she is on her last innings, she’s almost 16 and isn’t doing so well). While I was driving back I felt a flood of emotions. I had kept it all together quite well until then. But then I was suddenly on my own. I began listening to the CD in the car cd player. It was Finding Faith. The first track played and it hit me to the core. God used those words to remind me of His good hands. He’s got this. That He could heal Lorelai if He wanted to, restore her vision. But if He doesn’t, that’s okay, God will carry us when needed and that everything will be okay. These are part of the lyrics:
Cause the hands that hold the world hold my heart
And the hands that heal the world heal my heart
There’s never been a heart that you can’t change
There’s never been a life that you can’t save
Cause the hands that hold it all are good hands
When I feel the weight crushing down on me
I know I’ll be okay, God will carry me
I actually ended up sending a message of thanks to Finding Faith for sharing their music with us all. It made a huge impact on my perspective. And I was sent back some very encouraging words particularly around vision impairment. And if you’re reading this – thank you so much Tim. Those words truly uplifted my heart.
The week and a half or so back home have been every bit exhausting. Functioning on little to no sleep and having screaming crying babies sure does mess with the mental health. Trying to stay on top of feeds and preparation is stressful. I always need to stay at least one step ahead or everything crumbles in screaming sirens of two babies. Yes, definitely double the blessing, and would be exhausting anyway if they were ‘regular’ babies, but with the additional needs of Jeremiah and now also these beautiful twins, it’s harder than I can place in words. We have been stretched more than we thought possible. The complexity of feeding Lorelai is quite consuming. And over the last week Justin has developed complications with feeding too.
But by faith I know, we will get through this and God will use all of this to bring good. He already has. And what I am learning will help me continue to help/support others. Having Jeremiah with all of his additional needs has helped me learn more and I think has (hopefully) made me a more compassionate person. I’m sure Lorelai will teach me that sight isn’t everything. That the world is a beautiful place even if you can’t see it all. I am reminded of Louis Armstrong’s famous song, what a wonderful world.
If only parenting twins was always this ‘cute’
Hopefully by sharing our journey with you, you might understand more about Albinism and perhaps this might just help another person, or at the very least, this might help our little girl navigate the world with a community of support and love surrounding her. We don’t want our little girl to be ‘different’ or looked at as ‘disabled’ but rather that those around her will see her abilities and strengths and love those. She will have two gorgeous brothers either side of her to love and protect her, as brothers do. And in case you’re wondering, no I don’t think God caused this. I believe that God will use this, yes. That God made her perfect as she is, yes. But I don’t believe he causes any type of hurt or heartache, but He can bring good things from all situations and we choose to believe that in all things He works for the good, and so He does for our little girl, too.
*Please note, I have learned a lot about Albinism. Calling someone an ‘albino’ is considered derogatory and degrading. It is more acceptable to say ‘someone with albinism’ or ‘….. has albinism.’ Back in the hospital I had no idea about the term albinism, I had only ever heard the term albino. Hopefully this educates others too. 😊
Our miracles, all three of them.
Proud big brother.