Would you want to know?

Hermansky Pudlak Syndrome (HPS) is a very rare disorder estimated to affect 1 in a million people, however as research into this area is very limited, this number is probably inaccurate. People with this condition have Oculocutaneous albinism (OCA – albinism) and in addition, have problems with blood clotting, which leads to prolonged bleeding and easy bruising. There are 9 subcategories of this rare condition. Some of them are more severe than others. One of the subcategories is extremely rare; it the worst and most severe version. It is lethal.

This severe category has other issues associated with it. One of them is onset of colitis/inflammation of the large intestine (granulomatous colitis) and kidney failure. (If you know what ulcerative colitis and Crohns is, it’s very similar and includes lots of bleeding which is hard to stop due to the clotting disorder).

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Our gorgeous Lorelai.

There is another more severe symptom of HPS (in the rarest category) and it is to do with the lungs. People with this form of HPS develop breathing problems due to a lung disease called pulmonary fibrosis, which causes scar tissue to form in the lungs. These symptoms are expected to appear either before or during the early thirties and rapidly worsen. People with HPS do not live for more than a decade from onset of these symptoms.

I am currently trying to come to terms with the most devastating news. And it occurred to me that perhaps knowing isn’t as bad as it sounds. Would you want to know your expected timeframe that you’ll die? Would that make you live your life any differently to how you have lived it? Would you make any changes?

Well, it turns out that there is this super rare form of Albinism (technically though, albinism is a symptom but the two go hand in hand) that is terminal. There is no cure. And that means life expectancy is at best 30-40 years. When I was a kid, that would have seemed old. Now that I’m a parent and in that age group, I realise I’ve barely begun to truly live yet. Between mortgage repayments and medical bills etc, we survive. And that’s fairly normal for people in my age group to be just getting by. We haven’t yet been able to freely live like most do once you get to retirement and have hopefully paid the mortgage off or downsized to pay off debts.

Unfortunately this is the time Lorelai would be declining rapidly (if she makes it this far) and beginning the road to the end of her life. There simply is no way to gloss that up. Or to make it sound any nicer. She will die quite young. Unless somehow she can get a lung transplant.

From the reading that I’ve done on this particular form of HPS, I’m yet to find someone who has had a lung transplant and who has lived much beyond 30. Unfortunately I’m finding that more and more people with this condition develop the pulmonary fibrosis quite early. One child that I found was around 6 years old and only lived a few years longer. So it’s becoming clearer that the future for someone with HPS (this category) is an extremely short life, with an agonising death. 😭😭😭

From the first onset of symptoms, life expectancy is 10 years, as I said above. Some people with this form of HPS get symptoms in their adolescence. So therefore life expectancy is even younger. It seems that 30-40’s is a best case scenario and not the norm/to be expected.

I keep thinking how totally unfair this is. My heart longed so much for a daughter and now I’ve learned our time together will be short. And she will suffer towards the end of her very short life. I don’t understand. Why her? Why anyone? So many questions I’ll probably never get an answer to until one day when I meet our Creator in heaven.

For now all I can do is trust that He is good. His plans are good. And that He will carry my daughter and us through every day of our lives here on Earth. I can be thankful for each memory we create together. I can allow myself to grieve the injustice of this and also accept that part of life is death. We will all meet that one day. I will hope and pray that medical advancements may find a cure or that someone will develop artificial lungs so that my daughter can live a longer life. So I will find ways to get this rare condition researched. I will beg for funding into this area of research at whatever level of government that it takes. Anything to save my daughter and others like her.

I keep thinking that, what if she wants to have a family? Will she decide to have children and then leave them as young children without a mother? Or will she decide to not have children so that the children don’t have to grieve the death of a mother so young? Is that a choice anyone should have to decide between? Will she decide not to have a partner so that she doesn’t leave them grieving? But then will she be lonely because she won’t ever experience that love? Will her brothers be lost without her? Especially her twin Justin… how will he cope watching his twin sister die a slow and painful death?

I know life isn’t fair. It’s just not meant to be. I also know that each day is a gift, not a guarantee. I’ve always lived that way. But this is pretty hard to comprehend. How can this be? How can my girl be dealt such a tough hand at life? I wish I could take it all from her, that’s what we want to do as parents, but sometimes there’s absolutely nothing we can do except wait for the inevitable. I wish we were in a better position to make her life as full and as wonderful as possible.

I’ve done a bit of searching and I can’t find anyone else in Australia with this rare syndrome that is still alive. Is she the only one? It seems worldwide there’s only a handful of cases. (If you share this far and wide, I hope that someone in Aus might connect with us who is also lost like us, or a bit further along, and we can support each other’s family’s through this).

I’ve become so numb to hearing medically tough news. Between the pregnancy losses, the disabilities and medical issues with our kids and with me, I’ve become so numb. Nothing really shakes or upsets me these days. It’s just onwards and upwards and how can we fix this. Except this cannot be fixed. It’s left me so heartbroken. Not about me, for my girl. For her. For her brothers, mourning the loss of their sister at a young age.

So right now, my eyes hurt from crying, my face is puffy and tear stained, my head is spinning from all of this information to take on and the more I read the more questions I have that there aren’t answers to yet. (Also why we wanted to share this information this way, because right now it’s very hard to talk about this. Our hearts are shattered.)

We need more research to be done. My heart aches for my little girl. For the challenges she has ahead of her. I remember finding out about her OCA and wishing so much that she’d be able to see well enough to be able to drive. Now I just wish she could live long enough to have a long/full life and I wish it was ‘just’ OCA. Oh how our perspective can change so quickly.

I hope in the future maybe I can give her my lungs, maybe by then medical advancements will allow this. I’m sure in 30 years time my body will be crumbling so much. With all of my health conditions, my lungs are the things that do work. Perhaps I can give her mine? I’d give up anything for my children.

This also gives me a glimpse into the heart of Jesus. He gave up His life so that we could live. Gives that totally new meaning. I’d do anything to help my children live, and God did exactly that for His children when Jesus died on the cross. All my life I’ve never been able to truly understand how anyone could do this. But now I think I might have a bit more insight (I’m not claiming to be like Jesus, I’ve got a LOT to work on, but I can finally understand why He wanted to do that and did do it).

14th August 2020, Friday afternoon just after 3pm will forever be the day our daughter was stamped with her timeline. The only known in life is that there’s a birth date and there’s a death date. What happens in between is the unknown. We will make the most that we possibly can during her life. We will do our best to make the management of her condition something that doesn’t make her who she is but she instead makes the condition part of her lifestyle. We will make sure her educators understand how to help her so that she doesn’t have to worry. So that when she gets cut, her bleeding can be managed.

Any surgeries she may have when she’s older will need to be done under even more specialist care to manage her bleeding. She needs a haematologist at any of these types of medical procedures. She will need platelets so that she doesn’t bleed out. And she will most likely need a blood transfusion at some point in her lifetime.

And the number of specialists that we need for her now is upwards of 10. That’s more appointments and more $$. It’s hard to explain this to someone who doesn’t have a child with a disability. When you have a child with a disability/medical condition, or multiple, you have no time. Zero. You have so many appointments. From specialist medical appointments, to allied health appointments (like occupational therapy, physiotherapy and a speech pathologist). There are so many appointments. It’s not like a regular family where you have so many extracurricular activities (because we have those too). This is in addition to all of that.

Now that’s a lot of appointments and scheduling for one child. Make that 2 children and it’s extremely hard. It’s exhausting. Some days we attend up to 4 appointments. It’s hard on the kids too. And Justin, although mostly okay, has also needed paediatrician, speech, OT and physio alongside his sister.

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Yes this is part of parenting. But it’s not the norm. Your circle of friends reduces when you have a child or children just because of how much time is needed for the kids. Add in the disability side of things and that circle narrows more. So much more. I was talking to a dear friend who also has a daughter with significant disabilities. I feel like she’s one of the few people who understand because she’s living it. Every. Single. Day.

So that circle of friends that you actually need so much more when you’re struggling to juggle everything and all of the additional stuff doesn’t exist. Is it because it’s too hard for friends to be friends with those who have significant responsibilities with their children? I don’t know. So with this new, significant diagnosis, I fear the loss of friendships as others drift in the non-disability life.

We will do the best that we can to look after her medically – people with colitis shouldn’t be taking ibuprofen (unless absolutely required) so now that we know this early, we won’t give this to her. We will have to make sure her doctors are all aware of this. I have ulcerative colitis and crohns. Doctors know this and I’ve still often been told to take ibuprofen and I’ve had to speak up to remind them I’m not meant to take this – so we are already on the ball with this.

The risk of kidney failure is also there. So we will do whatever we can to learn more to prevent this if we are able to in any way. She may also need a kidney transplant or both.

We have to keep her lungs super healthy to give her the best chance of delaying the pulmonary fibrosis onset. That means if someone is sick and wants to visit, or does visit, we will be those people that will have to turn them away even at the door to protect our little girl’s lungs. It means we will have to strip down and shower to remove germs after returning home from work. It means daycare and schooling for her will be crucial in having her kept away from anyone who is sick. That’s so hard on its own. It might mean a lot of time off school and perhaps even home schooling. But how do we do this and make ends meet? It means with Covid, none of us can at all afford to bring it home here to her or there is a very huge chance her lifespan will be cut much shorter.

We will get involved in any trials and fundraising that we can to try help find a cure for the pulmonary fibrosis (lung failure) side of things. This is the biggest one. This is the one that will end her life. So any research into this area might one day help save her life. There’s hardly any research into this area currently that I can find but we will do whatever we can. (Anyone know any researchers or big companies wanting to fund research?!)

Each time we think we’ve come to terms with on of our kids’ diagnoses/or whatever big has happened, then we feel like we are hit again with something big, like this.

I know we will smile and laugh again. I know that in time we will find our way forward. But right now in this very moment, I see the obstacles in the way. I know we will find peace, but right now I see the waves of uncertainty. One day we will build a purpose built home for our kids to meet their needs and disabilities, but right now we have bills piling up and I can’t see that dream coming to light. When the dark clouds clear, and we can climb out on the other side, we will pick ourselves up and move forwards with an absolute fire in our hearts and determination to do everything we can for our kids , especially Lorelai with this new information. But for now. It’s okay to not be okay. We’re not okay right now. And that’s okay. We are in the middle of this heartbreaking grief. This compounding grief from the raw loss of Scott’s mother just a few weeks ago. Just when we thought things couldn’t get worse, they did. But we know God is a God of Hope and we will one day be lending a hand, a listening ear or a shoulder to cry on to someone else in this same diagnosis. But hopefully by then there will be more research into this very rare disorder and a cure. Please God – make there be a cure for our daughter.

And if you’ve made it this far. Please, please, please think about becoming an organ donor. Tell your family. When your time comes, you could be the cure or hope someone else has been praying for their entire life. Organ donation allows you to live on and give the gift of life long after you need your organs. If our little girl’s prognosis can inspire just one person out there to donate their organs, then other families won’t have to face the heartache that we know is inevitable at this stage.

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