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Chris Futia
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Latest results from Peter's visit to NIH

In late November, Peter and I spent a week at the NIH in Bethesda, MD so that he could be thoroughly studied as part of their research program on inherited bone marrow failure disorders.  This was a wonderful opportunity for us to find out if there was anything going on that we didn't know about.

We stayed at the famed Children's Inn where we mingled with families from all over the world whose children were there for research studies or clinical trials.  Peter's genetic disorder, Dyskeratosis Congenita, is exceptionally rare, but some of the other kids were the first known cases of their specific disorders.  There were many children who had recently been through bone marrow transplants and were wearing masks against infection, and many others whose disorders were responding to novel therapies available only at the NIH.

We had up to 6 appointments a day for 5 days while we were there, and that was hard on Peter, but overall it was a really positive experience.  He was grumpy towards me a lot of the time, but he handled it amazingly well considering all his challenges. He even tolerated having a tube with a tiny camera inserted up his nose and down his throat!  (Well, OK, they sprang it on him really fast and he screamed bloody murder once he realized what had happened, but he only cried for a couple of minutes afterward and had a huge sushi lunch an hour later).

During my initial meeting with the study team, I finally learned that Peter's Dyskeratosis Congenita is caused by a splice mutation on his RTEL1 gene.  This gene was only identified in 2013 by the doctors at NIH, so if we had gone earlier, we would have been in the "mutation undetermined" group. There are a small handful of other people in the world with RTEL1 mutations but he is the only one with his specific mutation.

People with the RTEL1 mutation are at an extremely high risk of tongue cancer.  This type of cancer is very, very nasty and it is the last thing I want for Peter.  The ENT group identified a small patch of pre-cancerous tissue on the bottom of his tongue and if it persists for more than a few weeks we will need to have it biopsied.  I am examining his tongue weekly for other spots but I am not very good at recognizing them and it is critical to identify them early.  So we will be seeing a good dentist for a complete check of his oral mucosa every 3 months from now on.

People with the RTEL1 mutation are also at an extremely high risk of blood cancers, particularly Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML). As with Peter's overall bone marrow failure (which remains remarkably stable), the only treatment for MDS and AML is bone marrow transplant.  I shared with the team our decision NOT to put Peter through a transplant given all his issues.  They were very sympathetic and respectful, and emphasized that (as I had guessed) it would be highly unlikely for us to find a suitable donor for Peter anyway.

As I've mentioned before, Peter's telomeres (chemical "caps" on the DNA strands that help to maintain genetic stability as cells divide) are extraordinarily short.  All people with Dyskeratosis Congenita have short telomeres, but his are among the very shortest they have seen.  Our telomeres are at their longest when we are born, and they get shorter and shorter as we age.  Peter's telomeres are like those of a 100-year-old person.  This means he is extremely genetically unstable, a real ticking time bomb.  He really should have been much sicker already.

It turns out that his Dyskeratosis Congenita (DC) is only one piece of his genetic puzzle.  He has 2 or 3 other very significant mutations that will be studied, in time, by other geneticists at NIH.  It's quite possible that these mutations haven't been seen before, so identifying them probably won't tell us anything.  The geneticists at NIH feel that the totality of Peter's physical anomalies represent more than just the RTEL1 mutation. In other words, he has a lot going on due to his consanguinous parentage (incest between mother and father).  It's even possible that one of the other mutations is somehow ameliorating the impact of the RTEL1 mutation, resulting in the unusual stability we've been seeing.

One thing we learned from our visit was that Peter has pretty severe osteoporosis from his total lack of testosterone.  We decided not to give him a testosterone patch to induce puberty because he was resistant to the idea and -- more importantly -- his psychiatrist predicted that it would de-stabilize him in a most unpleasant way.  The NIH doctors would like us to try a tiny piece of a patch to give him at least a little testosterone, because his osteoporosis is progressing quickly.  We're not sure what to do, but will talk it over with his endocrinologist.

It was good to hear that we've been doing some things right.  Peter's diabetes is very well controlled for his age, as is his hypothyroidism.  He's been having his eyes examined regularly for diabetic retinopathy.  We've treated his mood disorder as effectively as it can be treated.  For a kid with his IQ, he is very functional and independent.  Moreover, he doesn't live his life as a sick person.  He doesn't have limitations and we keep him away from doctors and hospitals so he can just live his life.

When I talk about the stability of Peter's bone marrow failure, I mean that he has remained in essentially the same place for most of the past 8 years: modestly low white count and hemoglobin, and extremely low platelets (35-45).  We had expected his immune function to decline and his anemia to get much worse by now, but it hasn't happened so far.  Some parents would be all over their kids to avoid physical activity with platelets that low, for risk of bleeding.  But we're not going to hover over him or wring our hands every time he leaves the house.

As we left the NIH, we had all of these results conveyed to us verbally and in a preliminary written report.  The only thing we didn't know were the results of Peter's bone marrow biopsy on the next-to-last day.  The last bone marrow biopsy was 5 years ago.  If we were planning a bone marrow transplant we'd have been doing them every 6 months since then, but it's a major procedure with anesthesia and an incision where they punch through the hip to extract the marrow, and we're NOT planning a transplant.  I was, understandably, very curious about how his bone marrow looks now.

Previously, Peter's marrow was found to be 5% cellular (95% empty).  The team at NIH told me that this number could vary quite a bit depending on the specific spot where the cells were extracted.  Bone marrow is not uniform.  I had been wondering how he could be so stable with 95% of his bone marrow gone, but they said there were probably other places where the marrow had more cells and was working hard to keep his blood counts where they were.  This time, his cellularity was measured at 20%, which is good news, so to speak.

On the other hand ...

Peter's bone marrow cells are no longer just sparse, but also abnormal.  The abnormalities occur on all three lines: white cells, red cells and platelets.  They took a sample of 20 cells and did a chromosome analysis on them to see if they showed mutations (evidence of genetic instability).  19 of the 20 were mutants with one arm of chromosome 7 broken off and joined to chromosome 1.  Based on these results, it is clear that he now has intermediate-stage Myelodysplastic Syndrome, which as I mentioned earlier is a blood cancer.

The bone marrow failure study team has passed Peter's marrow over to the MDS experts at NIH to see if they can give us any further information.  In the meantime, I did a deep dive in the literature and used the sophisticated life expectancy calculator on the MDS Association website to arrive at some prognostic information.  As things are today, Peter's median life expectancy is 3 years, and he has a 44% chance of surviving 5 years.  His chance of evolving from MDS to AML is about 60%.  If that evolution happens, the median time for it to start happening is about 12 months.

When MDS turns into AML, it can happen in a matter of days, or it can take a few weeks or even a few months to go from initial signs to  acute illness.  The signs are exhaustion, weight loss, fever, loss of appetite.  If the MDS doesn't turn to AML, then his blood counts will start to decline faster, and he will start to get infections, or need transfusions, or have bleeds due to his low platelets.

Back when Peter was first diagnosed, we thought he had a matter of months to live.  But then he remained stable for a long, long time.  Although I've been living with a grand piano over my head, the rope it's hanging on has been sturdy and I've learned to ignore it pretty well.  Not that it's easy living with it, mind you.  But what else can I do but live my life to the fullest and make sure that Peter lives his the same way?  It's eventually going to fall, but it could be up there a long time.

Now the rope has clearly frayed and I am hearing tiny creaks from the piano.  It will probably fall within the next 2-4 years, but it could fall much sooner.  Or much later.  It could creak and swing and scare us for weeks and months and years, or it could fall suddenly with no warning.  For Peter's sake, I am hoping for the latter.  I want him to be sick for the shortest possible time with the least amount of fear and suffering.  I wish I could have some control over that, but alas, I cannot.

The Dyskeratosis Congenita group on Facebook is a great comfort to me, as are all the friends and family members who have been following Peter's journey with me.  No parent should be in this position, knowing that her child's days are numbered and that she will have to walk with him fearlessly all the way to the end.  And yet ... this is the path that lays before me.

Thank you for being here with me.

Catching Up

It's hard to believe that it's been more than two years since I posted here, and even longer since we have done a blood count for Peter.  Before you report us for neglect, I have to say that Peter has been amazingly strong and well during this time and we see no reason to add more needles to his life.  He already tests his blood sugar and gives himself insulin several times a day!  (Yes, that's right, he administers his own insulin now. All we have to do is calculate the number of units he needs based on his current blood sugar and whatever he's just eaten).

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

Consanguinity

Consanguinity ("blood relation", from the Latin consanguinitas) refers to the property of being from the same kinship as another person. In that respect, consanguinity is the quality of being descended from the same ancestor as another person. The laws of many jurisdictions set out degrees of consanguinity in relation to prohibited sexual relations and marriage partners. 

The offspring of consanguinous relationships are at greater risk of certain genetic disorders. The extent to which the risk increases depends on the degree of genetic relationship between the parents; so the risk is greater in mating relationships where the parents are close relatives.

Consanguinity: con·san·guin·i·ty [kon-sang-gwin-i-tee] –noun

The condition of being of the same blood; relationship by descent from a common ancestor; blood-relationship.

- Oxford English Dictionary

Children of Incest

J Pediatr. 1982 Nov;101(5):854-7.

Twenty-nine children of brother-sister or father-daughter matings were studied. Twenty-one were ascertained because of the history of incest, eight because of signs or symptoms in the child. In the first group of 21 children, 12 had abnormalities, which were severe in nine (43%). In one of these the disorder was autosomal recessive. All eight of the group referred with signs or symptoms had abnormalities, three from recessive disorders. The high empiric risk for severe problems in the children of such close consanguineous matings should be borne in mind, as most of these infants are relinquished for adoption.

Placing a Child for Adoption

Women have varying and often deeply personal reasons for placing their biologic children for adoption. Common reasons for being unable to retain parental rights include:

·         serious drug or alcohol abuse problems

·         extreme youth or immaturity

·         pregnancy that was the result of rape or incest

·         health or disability issues that prohibit properly caring for a child\

Incest Inadvertently Revealed By DNA Analysis

Analyzing children's DNA to diagnose developmental disabilities and congenital anomalies can inadvertently reveal that some were conceived through incest.  

Because of developments in genome technology, and because that technology is now more affordable, doctors are now increasingly able to scan the genomes of individual children to look for missing or duplicate sequences of DNA code.

In children born from incest, their genomes show an "absence of heterozygosity", reflecting the fact that their DNA contains large chunks where the mother's and father's contribution are identical, because they themselves shared much of their genetic code. The more chunks of the child's DNA that show the mother's and father's contribution are identical, the more likely it is that they are first degree relatives, such as father and daughter, mother and son, or brother and sister.

Identification of incestuous parental relationships by SNP-based DNA microarrays."

CP Schaaf, DA Scott, J Wiszniewska, AL Beaudet
The Lancet, Vol. 377 No. 9765 pp 555-556, published online 12 February 2011.
DOI:10.1016/S0140-6736(11)60201-8

Subject:           Hello

Date:                12/13/2012 12:05:36 P.M. Central Standard Time

From:               esanborn@mail.rockefeller.edu

To:                   Cfutia@aol.com

Hi Mrs. Futia,

Hope you are all having a healthy and happy holiday season! I wanted to update you on Peter's testing. We finally have all of the data back from the whole exome sequencing that was run. Our lab head is in the process of analyzing the data. As you can imagine the test we ran produces a lot of information. The interpretation process is more involved for individuals where we cannot study multiple biological family members at the same time as it is difficult to determine which genetic changes are benign and which might be responsible for the struggles that Peter has. Does that make sense?

If something "obvious" comes from the interpretation phase I would probably be in touch in the next month about that. The more likely scenario however, is that we will have "hits" or clues from the analysis that we need to do more functional testing on to see if they are benign or not. This is usually done 1 or 2 genes at a time so can take another few months to be honest. Given we finally had his data back I just wanted to update you with as much information as I had.

I also wanted to ask a few questions that might aid in the analysis process. When we had originally spoken, you said you didn't know a lot of information about his birth parents...is that correct? Through our analysis we can see that Peter has many, many areas of his genetic information that are the same on both copies of his genes (one copy he got from mom and one copy he got from dad). This would suggest that his biological parents were close blood relatives to each other. Do you have any information about this or records that we might be able to ask for through the orphanage? We understand this might not be possible but thought it wouldn't hurt to ask.

Thank you again for your participation and patience. While we are not crossing the finish line just yet, we are many steps closer than the last time we spoke.

Erica Sanborn, MS, CGC
Rockefeller University

Subject:           Re: Hello

Date:                12/13/2012 2:06:41 P.M. Central Standard Time

From:               Cfutia@aol.com

To:                   esanborn@mail.rockefeller.edu

Dear Erica,

I have long suspected consanguinity as the underlying cause of Peter's telomere disorder. For one thing, consanguinity is high in many small castes, tribes or communities all across India. Putting it another way, India is one of the world's hotbeds of consanguinity. But more significantly, what little information we have on Peter's birthfamily is very suggestive of consanguinity.

Worldwide, incest has always been one of the reasons why babies are placed for adoption. In India, such children would often be abandoned, or handed off to a third party for disposal. When orphanage workers did interact with birthmothers, they traditionally took an “ask no questions” stance.  Any information that did emerge would most often go unrecorded. 

Our family has three children who were adopted from Calcutta.  Two were abandoned, and one – Peter – was relinquished shortly after birth. The older two came with no information whatsoever.  In Peter's case, there is one document, a relinquishment certificate, that provides a tiny bit of insight into his background.. His birthmother was said to be 27 years old, single and living at home with her parents. The form gives her father’s name, and (I believe) his signature.  The birthmother herself signed with a thumbprint.

No one at the orphanage remembers where the relinquishment took place, as the social workers involved are long gone and the relinquishment document does not provide this information. The family’s address was recorded as "Serampore". That's like saying "Houston". The family's last name is "Das" -- like "Smith" or "Jones" in that part of India.  So no tracing is possible, and that's a tragedy from many points of view, not least from Peter's, since he would give anything to meet his birthmother just once.

Now here's the thing that has always stuck in my mind.  Peter’s birthmother was clearly illiterate, and most likely from a community where girls are typically married off as soon as possible after puberty. It is very unusual for an able-bodied woman of 27 to be single and living at home. This suggests to me that she may have been handicapped in some way -- physically, intellectually, emotionally?

It’s possible she might have been married and then sent back to her parents by her husband's family, and later divorced. But my gut tells me that she may not have been marriageable. Perhaps she also had DC, with the same small head and mental retardation that we see in Peter.  Or perhaps she suffered from mental illness, as Peter does from acute early-onset bipolar disorder.

The supposition of incest is a leap, but not a large one. A young woman of 27, unmarried and living at home, gives birth to a child with a rare genetic syndrome.  DNA analysis reveals that his biological father was closely related to his mother.  Well goodness, what do we THINK happened?  This has been my hypothesis from the moment we learned that Peter had DC.

I wish I could give you hard information instead of supposition, but unfortunately, this is all we have.

Even though it makes no difference to the outcome, I can’t wait to find out what gene is implicated in Peter’s DC.  Whether it takes a month or six or twelve, at least we’re on the road.

Regards,

Chris

P.S. I'm attaching a recent photo of Peter, taken a few weeks before he turned 18 in October.  

Peter's Wish

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It's confirmed

In September we sent Peter's blood to a specialized lab in Vancouver to study his DNA and measure the length of his telomeres.  Telomeres act like the plastic ends on your shoelaces, preventing your DNA from "unraveling".  Someone with short telomeres generally has a lower life expectancy, and it's been observed that some of the longest-lived people have unusually long telomeres.  There are two major categories of genetic disorders leading to bone marrow failure.  We had ruled one out -- a defect in the body's DNA repair mechanism (of which the most common disorder is Fanconi Anemia).  The results of the telomere test, which I heard about yesterday, confirm that Peter's defect is indeed in his telomeres and telomere biochemistry.  His presumptive diagnosis is Dyskeratosis Congenita, an orphan disease even rarer than Fanconi Anemia.  About 200 cases have been described in the international literature.  It's estimated that incidence is 1 in a million.  All of Peter's other signs and symptoms are highly suggestive of DC, and his hematologist started to suspect DC from the beginning, though he had never seen a case with his own eyes.

Nothing new comes with the diagnosis ... except ... I surprised myself by bursting into tears and sobbing my heart out when I heard it, because I had almost convinced myself (subconsciously) that Peter's current vim meant that his bone marrow might not have failed, that maybe there was more than 5% working now, and all of this was a fading nightmare.  Yes, he really is going to die young.  Before he's 30, probably, from infection due to a low white count, or bleeding due to low platelets.  The longer he lives, the higher the chances that he will develop leukemia or aggressive cancer.  Unraveling DNA does bad things.  Cancers can't be treated effectively because a person with DC can't tolerate chemo or radiation, which are already harmful to DNA.

Of course, it's also good to know for sure what is going on, to have a name, and to be able to join a support group.  There aren't nearly as many resources out there for DC families as there are for Fanconi families, but there are still a few opportunities.  I'll be joining in a Skype call next Sunday.  It will be good to connect with other moms and dads like me.

As usual, this new information prompted a wee-hours literature search online, to glean anything new I could find about DC and other telomere disorders.  I am very eager to hear (eventually) about the results of DNA sequencing currently underway at Rockefeller University.  They have a sample of Peter's blood and are putting his DNA through a rapid sequencing process that focuses on a relatively small part of the genome where the majority of genetic disorders have their origin.  As in Fanconi, there are a number of different genes that are implicated in DC.  There is evidence of differences in the course of the disease depending on the type of inheritance (autosomal recessive, x-linked, autosomal dominant) and the gene(s) involved.  The length of the telomeres is a factor in life expectancy, but there are other telomere chemistry disturbances that also play a role, so length alone doesn't say much. 

Based on Peter's signs and symptoms and age of bone marrow failure onset, I am guessing that he has an autosomal dominant form and that his defect is in the TERT, TERC or TINF2 genes.  That means less of the visable signs that make for an earlier diagnosis in many cases: degrading fingernails, web-like pigmentation differences, and white patches in the mouth (leukoplakia).  If I'm right, then his course will be characterized more by bone marrow failure, leukemia and malignancy.  30 would be a good guess as to his "likely" life expectancy, though that is just an average, and with his bone marrow failure already apparent, that is probably a stretch.

In addition to all of the above, I learned some amazing things from the explosion of research in DC that has recently happened.  One of the reasons why scientists are so interested in DC is that some of its symptoms are similar to premature aging.  Understanding the mechanisms behind a genetic telomere defect will carry over directly to a better understanding of the aging process -- and possibly finding ways to increase healthy longevity in genetically normal people.  You can only imagine how big a deal THAT would be!

So ... shorter telomeres are linked to stressors during pregnancy.  My poor little guy inherited his disorder, but most likely it was exacerbated by what must have been a really difficult prenatal environment based on what little we know.  Neglect and deprivation are also linked to shorter telomeres.  At least we don't have that to feel bad about.  A very recent study demonstrated that people with DC (and short telomeres) are much more likely to have diabetes (an age-related disorder in most people).  There is also a newly-discovered link between short telomeres and ... wait for it ... BIPOLAR DISORDER.  All of this is new in just the last few years.

After the recent learnings about aging and shortening of telomeres, there are companies offering telomere analysis to predict a person's likely lifespan.  Do not be deceived.  The scientists who really understand this stuff say that the best simple predictor of your lifespan is still your date of birth.  Think of all the money that will be spent on this nonsense by people who believe the hype.

Peter continues to be hale and hearty.  His latest blood counts were almost identical to the previous round of tests last summer.  His white and red counts are just below normal.  His platelets remain very low (around 25) but that is not a "dangerous" level yet.  We got him a flu shot.  Last winter he was very healthy except for the diabetes that nearly dispatched him to the beyond before we identified it.  Ever since we treated the diabetes, he's been much better.  However, he is needing more and more and more insulin these days.  Early organ failure is part of DC.  People can even develop prematurely grey hair.  Peter's pancreas is clearly toast at this point.

I wish I had a picture to share from the Homecoming Dance last weekend.  Peter's special ed group went out to dinner at a nice restaurant and then went to the dance, where they had a special area and refreshment table for those who wanted it.  Not Peter.  He was out in the middle of the floor.  He doesn't want to hang out with (his words) those "handicapped kids".  He didn't dance WITH anyone, but he says he danced.  I believe him!

At the start of school, Peter's drama teacher from last year, who has taken a shine to him, asked him to be her assistant for the year's first musical, Xanadu.  So Peter has been caught up in a whirl of rehearsals where he has become an integral part of the cast and crew.  It's not clear what he really does, but it's very clear that he loves it and that everyone loves him.  Performances started on Thursday and continue through tonight.  On the first performance day, Peter was presented with a card signed by everybody involved.  He wouldn't let us look at it ("I got a card but you can't look at it because it's mine and I want to 'treasure it' on my own.")  Of course I sneaked a peak.  My eyes welled up.  An outpouring of love.  Last night he came home with a small bouquet of roses, given to him by one of the leads in the show.  Tonight he'll experience the incredible fun and emotion of a cast party. Since he has another 4.5 years of high school, this is a wonderful development in his life.  Something important to be part of.  There is even the possibility of community theater down the road.  What a blessing!  Drama was one of only 2 or 3 "regular" classes he'll ever take.

I tried to talk to Peter about getting something nice to wear to the Homecoming Dance, but he refused to discuss it -- typical bipolar behavior.  Then the night before the dance he suddenly wanted a sport coat.  A sport coat?  For a kid under 5 feet with a 44" chest?  He begged.  I couldn't imagine where to go, but eventually settled on Men's Warehouse.  I knew that for Peter, if he had to roll up the sleeves, it would be OK as long as he had a sport coat.  So in we went, and with great gravity, Peter asked for a sport coat in his size.  The salesman measured him and immediately found a jacket that looked perfect.  He quietly slipped it onto Peter and then -- magic.  Peter stood in front of the mirror and his eyes just sparkled and sparkled.  "I think I'll take this one", he said, with enormous dignity.  It fits perfectly, and the sleeves are only an inch too long.

Before we went shopping, I found a pair of khaki dress pants that I had bought before Peter lost all the weight last winter due to untreated diabetes.  Time was short, and my sewing stuff is packed due to my upcoming move, so I hemmed them with duct tape.  (He's gained back all the weight and more, so they fit well).  I figured he'd be happy with dress pants and a jacket.  But after we bought the jacket, Peter suddenly said, "OK, mom, now we need dress shoes".  DRESS SHOES?  This boy wears the same pair of sneakers year in and year out.  He'd wear the same pair of socks if he could.  It is like moving a mountain to get him to change his socks.  The stench can be dreadful sometimes.  So off we went to Payless.  I was anxious, because he rarely shops without a loud meltdown in public, and he had done so well at Men's Warehouse.  I hoped we would find something quickly, but Peter's feet are malformed and therefore odd-shaped.  We were lucky to bump into a neighboring dad who knows Peter well and -- in his youth -- sold shoes.  He helped us find a perfect pair of slip-ons that Peter insisted on wearing out of the store.  We couldn't leave, though, until he got some dress socks too.

I assumed that Peter would wear one of his spiffy extra-short extra-husky polo shirts with his new dress clothes.  When left to his own devices, he typically puts on a polo (with jeans and sneakers) when other kids are dressing up.  Thus, I was shocked and appalled when he came out of his room proudly wearing ... ugh ... a huge baggy men's v-neck undershirt from Wal-Mart.  I had just bought some for him to keep him warm under his shirts and hoodies this winter.  I did everything possible to convince him that an undershirt that was longer than his sport coat was NOT COOL (even daring to induce a meltdown) but he could. not. be. moved.  He loved the undershirt, because it was a MEN'S undershirt.  So off he went with great pride.  I only wish he had allowed me to take a photo. He did look absolutely marvelous despite the undershirt.

That's my Peter.  Making ever day count in his own peculiar way.  May it always be so!

This is Peter with baby Aleiyah, the daughter of Rani Shields, a member of our very special SPICE family.  She and her mother and sister came over from Tampa to the Give Kids the World Village one evening while we were on our Make-a-Wish Trip.  Peter LOVES babies.  I'm hoping that maybe he can have a part-time job in a daycare center when he finishes school.

A Dream is a Wish Your Heart Makes

Last week in Florida, all of Peter's most cherished dreams came true -- including the ones he didn't even know he was dreaming. 

There is no way we ever adequately thank the Make-a-Wish Foundation and the amazing staff and volunteers at the "Give Kids the World" village in Kissimmee, Florida.  We will never forget the hundreds of "cast members" and fellow visitors at each park who stopped to say hi, give Peter a high-five, and wish us a wonderful day.

Remember Cinderella's song, brought to life many years ago through the magic of Disney?

What do you say when your diabetic son begs for
cotton candy on his Make-a-Wish trip? "Of
COURSE you can!" and "God bless insulin."

A dream is a wish your heart makes
When you're fast asleep.
In dreams you will lose your heartaches.
Whatever you wish for you keep.

Have faith in your dreams and some day,
Your rainbow will come smiling through.
No matter how your heart is grieving,
If you keep on believing,
The dream that you wish will come true.

A dream is a wish your heart makes
When you're feeling small.
Alone in the night you whisper
Thinking no one can hear you at all.

You wake with the morning sunlight
To find fortune is smiling on you.
Don't let your heart be filled with sorrow.
For all you know tomorrow
The dream that you wish will come true.

When you can dream, then you can start.
A dream is a wish you make with your heart.

It will take me a while to put together a slide show that adequately conveys everything Peter, Leo, Annie and I experienced on Peter's "Wish Trip".  We walked in joy and were wrapped in love, every moment of every day.  We did everything Peter wanted to do, and he came home healthy and happy.

As many of you know, waiting in line for a ride at one of the Orlando parks can take an hour or more, and often the ride is only 2 or 3 minutes long.  With our Make-a-Wish t-shirts and buttons, we didn't have to wait in any lines.  When Peter said, "I wanna go again!" we could ... and did.

The most special part of Peter's wish was the chance to visit the Wizarding World of Harry Potter at Universal's Islands of Adventure.  I can't begin to describe how just how astonishing TWWHP is for a first-time visitor.  You are THERE, on Hogsmeade, drinking butter beer (yummy!)  You are THERE, inside Hogwarts, with virtual-reality characters like Dumbledore shimmering in front of you, looking and sounding so real that you can practically smell them.  The paintings on the wall talk to each other.  Every detail is true, and crafted with exquisite care.  The "Forbidden Journey" ride (the most technological advanced virtual reality experience ever created) is more thrilling than the fanciest, scariest roller coaster.  You are swooping through the air being chased by Death Eaters, then diving among the turrets of Hogwarts to evade them, then following Harry at lightning speed as he goes head-to-head with Draco Malfoy on the Quidditch pitch, and it is REAL.  You don't just see and hear it, you FEEL it as your body is tossed about in perfect synchronicity.  I screamed so much in terror and delight that I am still hoarse almost a week later.

I had a special wish for our visit to TWWHP that Peter didn't know about.  On Hogsmeade, groups of 20 are ushered into Ollivander's Wand Shop to experience "a wand finding its wizard".  Lines are long, but we were able to join a group only 5 minutes after we arrived in front of the shop.  Once inside, we were asked to stand a little to the right of the rest of our group.  The shopkeeper went about his preparatory mumblings and putterings and greetings and then looked at Peter.  "You, boy -- come here."  And so it came to pass that Peter, who has memorized every moment of every Harry Potter movie, became the young wizard whose wand would, in a few magical minutes, find him.  I stood in the corner with smiles and tears watching him performing the shopkeeper's instructions, including casting the "Wingardium Leviosa" spell ... and seeing something happen.

The Wand Finds the Wizard at Ollivander's on Hogsmeade

You can see for yourself how much this meant to him.  And if it makes you shed a little tear, consider it an unexpected gift from Make-a-Wish to you, courtesy of my very special boy.