I hope this page will answer your questions about Rachel's anatomy, what I mean when I write about Rachel's "spells", and what can be done for her medically. I know that many of you "Heart Moms" are comfortable with heart terminology language, and when you ask about Rachel, this is what you want to know. I will include some terminology for you, but at the same time, I will try to write so that the average person can understand. Also, another reason for the lack of medical terms is that Rachel is under palliative care and these abbreviations no longer really fit in our own day to day vocabulary. This doesn't mean we are not interested; on the contrary, we spent alot of time initially learning about her diagnosis. But I think in many ways, we are past that stage and we are now more focused on enjoying the time we have left with her, and so we are not as familiar with the language that you might be steeped in these days. If you have questions, please do ask though. We love to talk about our little girl.
Here is a Basic Summary about what is happening in Rachel's body. (at age 14 months):
Rachel has Heterotaxy, in which some things (stomach, liver etc...) developed on the wrong side of her body. This has a big affect on the body. Veins and arteries have to reroute themselves and so on, but what is most affected by this, is her heart. Heterotaxy is rare to begin with but Rachel is extremely rare in the heterotaxy world as well. This is because her two pulmonary arteries lead off from the aorta instead of the heart. We were told that if she were to undergo surgery to insert a shunt in one of her pulmonary arteries to try and keep it open (often the initial surgery in several for heart babies), the likelihood of her dying in surgery would be something like 98%. Even then, Rachel's arteries are abnormal at the lung end as well, and so even if this surgery was successful, it would only be a very temporary solution. There is no way of knowing how long her particular kind of artery will stay open. Heart and lung transplants were never an option, given the complexity and severity of her heart condition as well as the fact that she only has one kidney and the anti-rejection drugs would be too hard on her body. Even if a transplant was offered to us, we would still have serious misgivings about doing so. We have received the same opinion from the top doctors/surgeons across Canada, as well as in Boston, U.S.A. There is not one doctor who would advise or be willing to attempt surgery. We are content with this and do not feel that we need to keep searching for more opinions.
What this means for Rachel:
Rachel's arteries are closing - one is already closed and the other is only a millimetre in diameter. This is the only means of blood flow from her heart to her lungs. Her arteries are abnormal and tiny, and they are ducts. It was uncertain for quite some time whether they were in fact ducts or something else but now we know that they are ducts because they are closing, this being the main characteristic of ducts. Rachel's ducts have closed and opened without warning roughly 30 times in her life. This is what happens when I talk about her 'spells'. Her final artery continues to close and open - each time potentially being the one that ends her life. Doctors are amazed that they continue to open up again at all. It is very difficult to watch her gasp for breath, her body desperate for oxygen. The spell lasts anywhere between 10 minutes to forty. For several months we gave her morphene, whenever she had one of these spells. But now we give her fentanyl in tiny doses, which we are told is 100 x more powerful. It is given nasally with a syringe and she seems to respond well to this. (we think it does help her body to relax) It has also been explained to us that she likely does not feel pain when these spells happen because the body has a mechanism to protect itself. When the CO2 rises (oxygen decreases), the brain kind of shuts off and her body takes over in the fight for oxygen, without her being aware of what is happening. This is of some comfort to us.
Rachel has one functioning heart ventricle. The good news is that this is the left ventricle, the one that does the pumping. The term for this condition is HRHS. (hypoplastic right heart syndrome) There is a hole between the ventricles. There is also a large hole between the atria so oxygenated and deoxygenated blood is mixing. And the veins leading from the lungs to the heart are curly and tiny. Both the arteries and veins of the heart must perfectly balance the flow of blood so that it doesn't back up in either the heart or the lungs. Amazingly, Rachel's heart has done this. At first we thought the veins would be the first to collapse but now it looks like it will be her arteries.
As to the rest of her body, we were told that she has a brain malformation, most likely something called a "Dandy Walker Variant"(partial gap in the vernis that connects the brain hemispheres, not as serious as the dandy walker syndrome) -although there is still uncertainty about whether this is what she has or if the whole vernis is still intact but just shifted over. (the MRI seemed to indicate the latter) She is very communicative with us. She smiles and giggles and babbles in her own way and she is very aware of her surroundings. This is an amazing and total gift - because we did not even hope to know her in this way. We were told by the Geneticists that, factoring in all the physical 'abnormalities', the malformation in her brain was probably more serious than not, and that we should prepare for a child with severe mental disability. At birth her oxygen levels were at 80% but for much of her life, it has hovered around 60 to 70% (with some long periods in the 50's). We expect this to play a part in her brain development as well. However, we don't think about it a whole lot because we know that her heart affects her more.
Rachel moves her arms and legs, although she doesn't push her legs down when you hold her upright. She can hold her head up briefly and she can now roll from side to side on her good days. Our cardiologist thinks that the main reason why Rachel is slower to develop and grow is that her heart does not have the strength. Her body is expending energy only on what is crucial for life. At fourteen months old, she is somewhere between 8 and 9 pounds. We don't know if she will ever speak. Right now that looks very unlikely. However there are many ways to communicate without talking! And she is a very social little girl!
She does have a spleen. (Heterotaxy moms usually want to know this, because some kids have it, some don't). Her intestines are not 'tacked down', which means that they could rotate in the future (needing surgery). Her stomach and liver are in reversed locations. She only has one kidney.
What does Palliative Care mean?
I hope to answer this here someday.....it is something we have thought alot about. We have also read some good material on this, some of which is in the books you can find on my Book list...