Siblings for Sebastian - Will we get our rainbow baby?

Future children have been on my mind a lot lately. We miss Sebastian more than ever and our hearts ache trying to fill a void in us. We know that we will never replace Sebastian, and we don’t want to.  It is funny how when you lose a baby your mind is full of different thoughts, some hopeful, more not. I should be 28 weeks pregnant right now, full of hope. Not empty and full of wonder whether future siblings for Sebastian will be joining him in heaven..
The main thoughts we have had are that of what others would think of us if we were to fall again so soon. I have spoken to another Mother who has an angel baby and she was ridiculed for falling straight after, people claiming that she had already moved on from her baby she lost and wanted to forget them. I want everyone to know that there is no way in this world that I would want to replace Sebastian, and there is definitely no way I could ever forget him or love him any less once another child comes along. There will always be a place in my heart for him, and a part of me missing that died when he did.

Another thought that pops into my head is whether Sebastian would feel like we are replacing him. I believe that he is with us in spirit and watching down on his family from heaven, guiding us. But I would be so hurt for him to think that he has been replaced. There is nothing anyone can say to this to help me come to terms with it – nobody really knows the answer as to whether he is here or not. But I have been speaking to him a lot, and I have asked him that when he is ready, and he believes we are ready, we would like him to select a sibling for him and send them to us. This is what gets me through all these different thoughts.

It is a very difficult decision as to whether to have children again or not, especially when referring to Sebastian’s autopsy results and seeing the pain he went through and knowing that there is a chance he did not receive his illness spontaneously. We have had people say to us “don’t worry, you can have another” or “just try again, lightening doesn’t strike twice”.. well you know what!? These comments hurt. We wanted Sebastian so to just go and have another baby, implies that he can be replaced and that void in our hearts will disappear (I just want to say that I know people make these comments to try and give us hope, and we appreciate this… I think the nicest remark we have had said was “I hope that one day you both can experience excitement and happiness again”, because the truth is, so do we). These comments also hurt because we may not ever get a healthy baby.

However, we want answers. We want to know whether we gave him the genes that took his life. We want to know how this could have happened to him; and we also want to know what the recurrence rate is for future siblings… and so it goes like this….

If you read my post about Sebastian’s autopsy results, you would know that it is thought that he had Type 2 Osteogenesis Imperfecta as well as a microdeletion of Chromosome 15q11.2, both these diagnoses are unrelated. Therefore, we are now fighting two battles.

After we received Sebastian’s autopsy results, they sent us to get DNA tests completed. This involved a simple blood test from each of us. They will then use our DNA and compare it to Sebastian’s to see whether his affected genes are identical to one of ours (in a nutshell). The blood test we received though did have a little bit of a humours story as it was completed at the Children’s hospital where Sebastian’s autopsy was done. So we waited in the waiting room with lots of little kids and babies who bravely got their tests completed. We felt silly in that we both dread blood tests, yet these incredibly brave kids, some who had cancer, were getting it- ‘toughen up’ I said to myself.

One of the mothers complained to her friend that adults were using the facilities, I felt like telling her our son had died and they need our blood for his autopsy results. But, of course I didn’t.

At the end of the test we were each given a kid’s band-aid. It was hilarious because the nurse specifically picked out a purple Minnie mouse one for James. He was not impressed. 

 Will Sebastian’s siblings get Type 2 Osteogenesis Imperfecta also?

We don’t know. The results could take years before we know the answer to this. You see, this is a genetic condition, it could have been spontaneous and not have come from myself or James, or it may have. The reason why it could take years is that our chromosomes are like encyclopaedias and the genes within these chromosomes as chapters, the current test that is being performed will first go through these encyclopaedias and see if a relevant chapter is missing. If not, they will then perform another test to see if a page is missing. If no result is there, they will then perform the test again and see if a paragraph, then a sentence, then a word is missing or a spelling mistake is observed. This testing can take literally forever. There is also no guarantee that they will find anything missing or wrong. We may never get an answer.

However, if they find that Sebastian’s OI was spontaneous, then the chances of recurrence are very low. In fact, we would have the same chance of this happening again as any other expectant parent. We pray this is the case.

If we find out that Sebastian was given an affected gene from myself or James, the chances of recurrence increase from 25% to 50% for our next children.  If this is the case, I will explain down below what our options are…

Will Sebastian’s siblings also have a microdeletion of chromosome 15q11.2?

The answer is similar to the above, except we will know within 6-8 weeks from our DNA test. That means, we will know by the end of November (hopefully!).

The chances of this microdeletion occurring depend on whether myself or James are carriers. We were told by another parent that 10% of people with this microdeletion have it spontaneously, whilst the rest are given it from parents. The microdeletion is incredibly rare, so to be in the 10% is even less common – great.

If one of us is a carrier, there is a 50% chance our next child will get it also. There is also a chance that we (as a person also affected) may develop a physical disability in the future – double ouch.

This is not a lethal condition, however its effect on life can be vast. Instead of me explaining it all to you, I think the best bet is to read about it here: Rare Chromosomes

Future pregnancy options..

When we decide to have another baby our options will depend on the results from the above DNA test. We have not made any decisions yet as to what we plan on doing, but I just thought I would give you all the options so you can see how difficult it is…

1. We can take the chance and try for another baby naturally, but we will need to prepare ourselves that our next baby may also die. If we went this path we will be monitored by the tertiary foetal welfare unit at a bigger hospital. I will also be required to complete a CVS test (similar to the amnio test, but a bigger needle as they take a sample of DNA from the placenta) at 10 weeks gestation. This test comes, no doubt will be just as painful, and also comes with the risk of miscarriage. If the test comes back positive, the doctors then will give us an ultimatum for interrupting the pregnancy. They will also perform early ultrasounds to try and pick up any skeletal problems – however these might not be observable to 20 weeks. There is a chance that if affected, our next baby could die in utero again.
2. If we find out that one of us are carriers to either Skeletal Dysplasia (OI)  and/or the microdeletion, we could consider using Preimplamantation Genetic Diagnosis (PGD) & Preimplamantation Genetic Screening (PGS) IVF. This means that we would go through the normal IVF process but they will test the embryos to see whether they are affected before implanting them. However, this is not completely covered by Medicare and from the people who I have spoken to that have done this process, it is estimated to cost $20,000, with $15,000 out of our pockets. There is no guarantee that this process will work, and whilst chances of miscarriage are slightly minimised, this does not prevent our next child from developing another rare form of disease and also being born sleeping from other causes (womb infection, placenta problems etc). There is also the chance that we will need multiple attempts before an embryo ‘sticks’ when transferred to me (each additional transfer does require more money).  I don’t like mentioning the money side of things, because if I could have done this to prevent Sebastian going through what he did, than I would have, regardless of costing.
3. If we find that one of us is a carrier for microdeletion, but they have not yet identified the gene leading to skeletal dysplasia. We can do PGS IVF (same process and costs as above). However, we run the risk that our baby will also have skeletal dysplasia and die.

We cannot explore PGD IVF until they have solved the mystery of Sebastian’s Osteogenesis Imperfecta (if it is even that), and which gene mutation is responsible. As I said before, this could be years away and we may therefore have a very long wait, although our geneticist has said she is hopeful that it will only be 6 months.

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As sad and heartbreaking as it is, we can sort of find the silver lining in that we are thankful for Sebastian. Without Sebastian we would never have known about the chromosome deletion, and if we are  carriers, he has potentially saved his sibling’s lives, or from a lifetime of suffering. If we are carriers, he has also helped us to concentrate on our own health in preparation for the small possibility that we may develop a form of physical disability in the future. For a baby who was in our lives for such a short time, he has changed ours forever in multiple ways.

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 So I guess, we really can’t just ‘try again’, there are so many things that impede on that decision.

Now we just sit and wait,

We wait for the amazing medical team to find some results,

We wait for our life to be pathed before us,

We wait, pray and search for hope that the right path will become clear soon.

What would you do?