Journal entry by Nicole Cory —
I know that many of you have been waiting patiently for an update on Haleigh, and we appreciate it very much! We appreciate all the well wishes, thoughts and prayers. This has been a truly humbling experience for all of us.
She had her blood drawn for genetic testing in December and it finally came back. We had an appointment this morning in Iowa City.
Haleigh’s testing came back showing a mutation in her CD46 (MCP) gene and she has been diagnosed with Atypical Hemolytic Uremic Syndrome, or AHUS. I’ve talked about it a few times before as a possibility but now we know for sure. It’s ironic because having AHUS is extremely rare to begin with, the odds in the United States is about 2 cases per 1,000,000 of the population. But having this particular gene mutation is even more rare within the patients diagnosed. Only 10-20% of AHUS patients have the MCP gene mutation.
The MCP gene produces a protein also called MCP Protein. It’s found on the red blood cells. Haleigh’s tests indicate that she is only producing around 50% of the MCP protein that her red blood cells need, or half the amount of a person with no mutation. This is a good and bad scenario for her. The other mutations (that Haleigh does NOT have) that are present in AHUS patients do significant damage to the kidneys because they are found on the kidney itself. Since Haleigh’s is found on her red blood cells, there will be kidney damage during episodes but once the episode is over, her kidneys will not continue to be damaged on an on-going basis, only when she is having an episode like the one she had back in October.
The other mutations that they were looking for that Haleigh doesn’t have any problems with are still an easier diagnosis. If she had had one of those mutations, her treatment plan would be very “black or white” according to the doctor. She would definitely need to go on the medication immediately to prevent episodes. People with those mutations always have problems and there is no triggering event—the episodes just happen. There is one medication IN THE WORLD approved to treat AHUS and it works very well. It’s an invasive medication, but works almost all the time. If she had one of those mutations, they would start her on the medication immediately.
The MCP gene mutation (that Haleigh has) has to be triggered by something. It is triggered by anything that compromises her immune system. This could be anything from a cold or flu going around to certain immunizations. This actually makes the treatment plan for her much more difficult. Because of Haleigh’s levels of the MCP protein, the doctor has said that she can say with certainty that she will have more episodes in her lifetime. The decision then becomes whether or not to start her on the medication at that time. Since the form of AHUS she has is one that she can recover from on her own, she would need to decide if the risks to the medication outweigh the benefits—especially if her body just needs a few more days to rocover.
Of course, during these episodes she would be admitted to the hospital and be receiving blood and plasma transfusions as needed to keep her blood from hemolyzing. This is what happened in October, her red blood cells began to destroy themselves and this hindered them from carrying oxygen to her organs. This is where renal failure comes into play. While they have said that Haleigh is lucky to have the MCP mutation because it won’t be constantly working against her kidneys, there is still the possibility of kidney failure depending on the amount of and severity of her episodes. She would be monitored very closely in intensive care to begin the medication if necessary to save her kidneys during relapses.
Through all of my research, I keep reading that the MCP gene mutation is the best of the mutations to have because the damage to organs decreases significantly. Dr. Nester agreed, but the problems she has is that it makes it very hard for her to predict when the next episode will occur. Haleigh’s levels of walking around with only 50% of the protein that she needs, coupled with how quickly she deteriorated during her first episode add enough danger to her diagnosis to put it up there with the other gene mutations. Haleigh has a form of AHUS that requires a triggering event to be activated. So, its great because she may not always need to be on the medication. But not so great that there is little to no predictability for episodes.
Where do we go from here?
Haleigh’s dad and I will need to be tested to see which of us is carrying the mutuation that she has. We know for sure that its only one of us and not both. Once we are tested we will move from there to have our other children tested. The doctor said occasionally it happens that its a brand new mutation, but we would still want to check.
Haleigh (and family and friends) will always have to pay very close attention to her body and how she feels. If she begins to feel extra tired or a little sick, she will need to begin testing her urine for blood and protein at home. From there she will need to go in for lab work to begin monitoring her red blood cells and her C3 levels. I’ve talked a bit about the C3 before. It’s a compliment gene found within the immune system. Haleigh’s were never normal and never returned to normal after her episode in October. The doctor believes that those levels could be a big indicator to whether or not she’s activated her system and will head into an episode.
She will need to be careful being around others who may be ill. She will need to pay particular attention during big events in her life like going to college, starting a new job, moving into a new home—because she is putting herself into a group of people she’s not used to being around and will likely catch something if its going around. When she decides to start a family she and the baby would need to be monitored very closely, pregnancy is a huge trigger.
We will need to find her a doctor in the Des Moines area who is willing to accept an AHUS diagnosis and to do the lab work that needs to be done when she requires it. Dr. Nester explained that since the disease is so rare, a lot of family practice doctors are not comfortable with it. So, we will begin to work with her pediatrician to transistion her to an adult practice that we can trust and will work with her. Dr. Nester has also volunteered to help with the transition. I say all of this because she will turn 18 in a few short weeks and I’m freaking out about her having to be treated in the adult sections of hospitals and clinics. They just tend to be much more attentive with children than with adults. Also because she is growing up and we won’t always be right next to her to make sure she’s doing what she’s supposed to be doing. I guess she will have to deal with having crazy parents that are going to come beat down the door if we haven’t heard from her in a day or two! 😂
We are all nervous and scared about the road ahead. What she has will never go away. We will never stop worrying about her. And this is how her family is feeling. Haleigh is pretty overwhelmed and has a big ball of mixed emotions right along with the rest of us. But we can ALL agree that we are so thankful to finally have a reason behind what happened to her and a plan to move forward—even if its unpredictable.
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