So health-wise, there isn't much that's actually new with Peter. His pediatric hematologist told us we'd know when his blood counts started to drop again, because he'd be very tired and get a lot of infections. Peter does catch colds every so often, but not a single one has developed into an infection that needed to be treated. He's a fairly sedentary fellow, but when he wants to go to the nearest mall on a weekend when the buses aren't running, he will walk 2.1 miles to get there, and the same amount back if he can't finagle a ride from anyone. He often walks to the McDonalds near my apartment, about 1.8 miles from home. He visits the public library several times a week and frequently takes himself out to eat at local restaurants.
Peter relishes his independence, and this has been enhanced by the Social Security Disability stipend he now receives every month and the transit card that allows him to use the buses and trains for free. He's now been in high school for 5 or 6 years (I've lost count) and has one more to go. He "walked" at graduation last year but did not receive a diploma. This year, he shifted to another nearby high school to join the transition-focused "Bridges" program. Recently his teachers informed me that he has actually earned all the credits he needs to earn his degree, so he will be getting his diploma when he finishes the program just before he turns 22.
Wherever Peter goes, he bumps into former teachers, camp counselors and classmates. He is perpetually surrounded by smiling faces, and showered with hugs and high-fives. He still spends time at the high school closest to our house "managing" the girls' JV volleyball and basketball teams. He often attends basketball and football games and drops by to visit his teachers and other staff. His dad and siblings only wish that he could be so delightful at home.
We did receive some new information about Peter's condition within the past few months. Way back in 2011, Peter's blood was sent to a lab in Vancouver so his telomere length coul be measured. When his doctor received the results, he confirmed that Peter's telomeres were very short and that he does suffer from the genetic disorder Dyskeratosis Congenita (DC). I finally obtained the telomere results this fall and discovered a new study online that compared telomere length for people with DC against the general population. I found that Peter's age-adjusted telomere length is extremely low, similar to young people who have the most severe form of the disorder. Yes his bone marrow failure has been very gradual.
Also back in 2011, we sent Peter's blood to Rockefeller University, where researchers were doing genetic sequencing to better understand the mutations associated with genetic bone marrow failure disorders. We were eager to know which mutation he suffered from, because there was research underway to associate different mutations with clinical outcomes. (Some of that research has now been published). Of course, since more than half of all people with DC don't have mutations that have previously been identified, we also had to be prepared for the "no answer" possibility.
I have checked in with Rockefeller regularly over the past 3+ years and each time I was told that the project was taking much longer than expected. But finally this fall there were results to share, and I was able to speak directly with the geneticist who had sequenced his DNA. We knew that Peter's DC was autosomal recessive (2 copies of the same defective gene, one from each parent) because he was the product of a consanguinous union. Autosomal recessive DC makes up a small subset of the total cases, but tends to be more deadly. There are a number of different genes that have been implicated in this kind of DC. I was delighted to hear that Peter DID have a mutation in one of the previously-identified genes -- a rare one with very few identified cases.
The researcher was not able to identify the defective gene for us because the rules of the study prohibit such sharing. She did tell us that the actual mutation found on that gene was a novel one. So even though there are a few other people in the world with a DC-causing mutation on that gene, there is no one in the world (as far as we know) with the exact mutation that Peter has. DC is a very heterogeneous disorder in the sense that the outcome is extremely hard to predict. The autosomal dominant form is the most common and the mildest. That one runs in families and can be passed on by only one parent. People with that form don't usually die of bone marrow failure, or if they do it happens much later in life. But Peter is a wildcard -- we simply can't know what to expect.
The researcher also had some other interesting news for us. In the course of her research, she had stumbled on a significant mutation in one of a large family of genes responsible for fetal development (the "homeobox" family). There are over 200 genes in this family and only a few have been studied. They are involved in a wide range of critical activities including directing the formation of limbs and organs. Mutations in these genes are responsible for a variety of developmental disorders and also with certain forms of cancer later in life. Among the many issues seen in people with homeobox mutations are failure to thrive, short stature, extremely small head, mental retardation, undescended testicles, failed puberty, diabetes and bipolar disorder. That's right, folks -- everything on Peter's list except the items specifically related to DC.
The bone marrow failure researcher told me that she would be passing Peter's DNA results on to one of her colleagues who studies homeobox mutations. In the meantime, she would like to validate the results by running Peter's cells through the sequencing process again. Unfortunately, his cell line failed to grow in the laboratory, so she will need a new sample for that. She would prefer a skin sample since it is apparently easier to sequence DNA from skin than from blood. We hope to give her one sometime next year.
One of the issues we have is that DC can involve many different organ systems, not just the bone marrow. We expected Peter's bone marrow to fully fail a long time ago (he only has 5% left), but inexplicably it has not. As he gets older, he is more likely to suffer and die from rapid-growing cancers or fibrosis in his liver or lungs. He really needs to be evaluated regularly so that we can identify and treat any new manifestations of his illness and give him the longest quality life we can. But who do we see? He's been discharged by his pediatric hematologist because he's no longer a child. We can get a new hematologist who may have heard of DC, but he won't have the knowledge, experience or authority to coordinate care across the whole range of DC manifestations.
There are specialized DC centers in a few states (mostly focusing on bone marrow transplants for kids with DC), and a couple of them also see adults. We will have to fly to the one we choose and pay for at least a couple of nights in a hotel. That's a challenge by itself now that I'm retired, but the bigger issue is getting the State of Illinois to pay for it. When Peter was awarded his Social Security Disability benefits, he also received a Medicaid card for life. Social Security is a federally managed program, but Medicaid is administered at the state level. There are absolutely no doctors treating DC here, but we are going to have to fight long and hard to get out-of-state care approved. Once we are on the roster of a DC program, there's a good chance that they can coordinate the rest of Peter's care in-state. But getting that first comprehensive evaluation is going to be very difficult.
For some time now, Peter has been enrolled in a long-term research study at the National Institutes of Health (NIH). They have not sequenced his DNA because they knew that Rockefeller was doing it and would share the results with them. We have had an open invitation to bring Peter to the NIH for a comprehensive evaluation by a team of specialists. We would have a free place to stay and they would even cover our travel expenses. I didn't take them up on the offer when it was first made because Peter HATES being touched or conversed with unless it is on his own terms. Medical exams and lab tests have always destabilized him. For instance, he needs to be completely knocked out to get an I.V. in. So I just couldn't bring myself to put him through a multi-day medical ordeal.
Now that he is 20, Peter is a tiny bit more patient with medical procedures or other things that freak him out. Sometimes he can be cajoled or bribed. There's no question that a visit to the NIH will be incredibly stressful for him (and me) and that there will be a lot of screaming and crying. But the time has come to suck it up and find out what may be going on throughout his body. Then, hopefully, the NIH team can hook us up with the best group for ongoing monitoring (everybody knows everybody in the DC community). Hopefully, the paperwork from the NIH will help to convince the state of Illinois that Peter is that one-in-a-million Medicaid recipient who really, really needs to go out-of-state for care.
Alas, there is a major wrinkle. Peter is no longer a child, but does not have the capacity for informed consent on medical matters. He also does not have the capacity to give me and his dad medical power of attorney. So in order to guide his medical care we have to go to court to get guardianship over his person. NIH will not schedule us for a visit until we can produce the guardianship papers. We consulted with our special needs attorney and his fee for the guardianship process is $2,500. Yikes! Fortunately, I am a paralegal and there is some good information online to help people file for guardianship on their own. I now have all the papers prepared and will file sometime in January or February, once we have a sworn statement from his doctor as to his inability to make medical decisions on his own. Hopefully, we will have the guardianship in our hands by April.
The court takes guardianship very seriously and Peter will have to be served with notice of the hearing and will be required to attend so he can be questioned by the judge. To minimize trauma, I am planning to take him to the Daley Center downtown so he can be served with his summons at the counter rather than having a Sheriff come to the house. The state is particularly restrictive when it comes to administering psychoactive medications to another person. Even after we have guardianship, if Peter should ever refuse to take his medications, we would have to go to court to prove his incompetence so that we could administer them against his will. Hopefully that will never happen. But once we complete the guardianship process, the court will remain involved with him forever via the annual reports we are required to file, with a new doctor's statement each year.
In addition to all of the above, future planning is much on our minds these days. In less than 18 months, Peter will be done with Special Education. What one would expect would be a transition to sheltered work and independent living in a group home. But Illinois has been dead broke for a very long time, and we rank 48th in the nation in services available to disabled adults. (Who would have thought that he'd be better off living in Arkansas, Mississippi or West Virginia!) Peter has been registered for services with the state since he was in grade school, but the few available resources are doled out based on a lottery he is very unlikely to win. If he lost both of his parents, he would become an emergency case, but the only places available are in low-quality nursing homes where people with Alzheimers and physical disabilities are tied into their chairs. NOT MY BOY! NEVER!
So the only valid alternative is to move to another state where there are services available that will enable Peter to lead a semi-independent life with dignity, a life that can continue when his father and I are gone. As many of you know, my brother and his wife own an apple orchard in northwestern Massachusetts, a state with very good services for disabled adults. Recently, my 80-year-old mother, widowed in January when my dad died suddenly, has decided to sell her house in NH and build an addition onto Russell's farmhouse. She hopes to be in her new place by Christmas of next year. I love the area around Easthampton and with all of my biological relatives there and good services for Peter, it seems like the most logical choice. So, tentative plans are to move there in the summer of 2016.
It will be very hard for me to leave Leo and Annie behind when I take Peter to Massachusetts. I never imagined being separated from any of my children and the thought is almost paralyzing. Annie's lupus is currently in remission, but it could flare again and attack her kidneys at any time. No matter what, she faces a lifetime of medical challenges, including infertility, repeated miscarriages and stillbirths when she tries to start a family. She needs her mother close by! I really don't know how all of this is going to work out, but I am consoled by the presence of her doting dad and her brother Leo, with whom she is extremely close. I know we are not the only family that has to make really hard decisions because of a disabled family member. So we will manage one way or another, and I am confident that one day I will be able to live near Leo and Annie again.
Peter can't begin to process the idea of living away from his dad and siblings and bursts into sobs when the subject comes up. I felt it had to be introduced because he is very aware of what goes on around him and needs to be part of the discussion and planning process. The last thing I want to do is go to another room and whisper about it with others while he wonders and worries about what is going on. Secrets like that are absolutely toxic to children. I may need to repeat to him a thousand times that he will be able to bring all his stuff, that he will be able to Skype with his dad and siblings, call them whenever he wants, and visit frequently, but there is really no other way to handle this. Right now, the hardest thing for me is to maintain my composure when he cries for the losses ahead. So far, all I've been able to do is cry with him.
Leo and Annie find life with Peter pretty intolerable sometimes. He is often insatiable, non-negotiable, narcissistic, fragile, volatile, selfish, demanding and rude. He is forever whining, yelling, shrieking or crying. He can't let anything go. He can't take responsibility for the consequences of his actions. His cognitive disability and bipolar disorder make it nearly impossible for him to control his impulses. He does a remarkable job behaving like a "normal boy" when he is out in public (using the word "normal" loosely, of course) -- but at home, he's no picnic. Yet they love him dearly, and this Christmas they got together to give him the new TV and DVD player he badly needed. As the photo below shows, he was absolutely thrilled. It was a moment I'll always cherish, not least because of the look on THEIR faces.
Best to all in 2015,
Chris
