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PGD%20

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PGD – PowerPoint PPT presentation

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Title: PGD%20


1
PGD BMT one familys story
  • Presentation and QA

2
Who we are and why we are here
  • Stuart Natalie. Saskia, Alice, Imogen George
  • Short presentation of our experiences
  • Opportunity for questions
  • Only us

DBA
HLA tissue match
3
The first four years
  • Diagnosed at 12 weeks
  • Transfusions
  • Steroids
  • Metaclopramide
  • Desferal
  • We decided on BMT

4
Pre-implementation Genetic Diagnosis (PGD)
  • Alice in a rush
  • PGD IVF ΒΌ Selection
  • In-vitro Fertilization (IVF)
  • Chicago Chicago - London
  • 7 7 - 5
  • Imogen

5
Bone marrow / stem cell transplant
  • Getting Worked Up and Wiggly
  • Sterile environment and Drugs, Drugs, Drugs
  • Day Zero
  • and counting
  • Lucky . . .
  • . . . but not easy . . .
  • . . . and 3 re-admissions

6
Post transplant
  • Wiggling on
  • Drugs, Drugs, Drugs
  • Patience and the out patient
  • Back to school
  • Jabs and backward transfusions
  • Long term
  • QA

7
Appendix Overview of Saskias life with DBA
  • August 2001 Saskia born
  • 2001 onwards Monthly blood transfusions for
    Saskia from birth, though had a year-long break
    trying steroid treatment which failed. Also
    trialled another drug which failed. From age 3,
    nightly night-long infusions via needle of
    another drug to alleviate iron-overload
    problems.
  • 2003 Second child born happy and healthy.
    Umbilical blood collected at birth. Blood
    discarded later when testing reveals this child
    is not a tissue match / potential donor for
    Saskia.
  • 2004 Mum and Dad went to Chicago for IVF / PGD.
    Twice. Failed both times.
  • 2004 Tried IVF / PGD in London when it became
    legal for us in the UK. Pregnant.
  • 2005 Collected blood from umbilical cord at
    Imogen's birth and stem cells cryogenically
    stored.
  • 2006-07 BMT work-up. Many tests to make sure
    Saskia is suitable and healthy enough for a
    transplant.
  • March 2007 After Saskia became eligible for the
    transplant having passed many organ and blood
    tests, she had an operation (general anaesthetic)
    to have a Hickman Line inserted.

8
Appendix Overview of Saskias life with DBA
  • 25th March Saskia admitted to hospital and put
    into an isolation room. The room is kept at a
    pressure slightly higher than normal as clean air
    is pumped in continuously. People entering and
    leaving the room required to adhere to a strict
    protocol to minimise infection risk. Saskia given
    too many drugs to mention, the most notable of
    which are several "chemotherapy" drugs, the
    purpose of which is to kill off Saskia's bone
    marrow. The principal function of bone marrow is
    to make red blood cells (used to transport oxygen
    round the body), white blood cells (used to fight
    infections) and platelets (used to help the blood
    clot).
  • 4th April Known as "Day Zero". The transplant
    day. Imogen has operation to take out some of her
    bone morrow (this grows back very quickly
    afterwards). This, together with the stem cells
    collected from the umbilical cord when Imogen was
    born in 2005, is given intravenously to Saskia.
    This is not an "operation" as such but a
    procedure similar in routine to the 50 or so
    blood transfusions she has had to date. For the
    next few weeks loads more drugs, seemingly 24
    hours by Hickman Line, nasal tube and orally.
    Drugs to combat the side effects of drugs. Drugs
    to combat the side effects of those drugs. And
    again. No joke. Saskia has side effects, the most
    obvious being all her hair falling out, being
    sick lots and feeling very sick. During the time
    since admission a family member was in the room
    with Saskia 24-hours a day.
  • 2.5 weeks later . . . Tests of Saskia's
    neutrophil count indicate that she may be
    starting to get the emergence of a new, though
    very weak immune system. Start taking short trips
    outside the hospital to big open spaces since
    Saskia is doing so well. Moved out of big
    isolation room to a smaller one getting ready for
    going home.
  • A few days later . . . Overnight home visit (we
    live a short walk from the hospital, so very
    handy). Same the next night.

9
Appendix Overview of Saskias life with DBA
  • And in Late April . . .
  • Saskia is Discharged from hospital! We're told
    this is unusually soon after admission and that
    Saskia appears to have done really so far. Not
    able to tell what's going on in her bone marrow
    yet. It's too early to tell how successful the
    process has been in killing off her old bone
    marrow or whether the new bone marrow is
    producing red blood cells or platelets.
  • On 5 drugs, which is a relatively low number at
    this early post-discharge stage. Their purpose
    is to help prevent infection by bacteria,
    viruses and fungi to help prevent graft-v-host
    disease and to reduce blood pressure. Getting
    Saskia to take these medicines is a real
    challenge.
  • Still severely immuno-deficient and at risk to
    infection.
  • Attending hospital 2-3 times a week for blood
    tests, check-ups and blood transfusions.
  • Saskia able to see friends one-on-one, and
    allowed to go out to wide open spaces or places
    with few people.
  • Saskia back to a less controlled diet, though
    some restrictions still in place.
  • Needs to wear sun-block outside since the process
    has left her skin very sensitive to the sun
  • Any infection could easily put her back in
    hospital, and we're told to "expect" readmission
    some time in the next 12 months for some setback
    or other.
  • Saskia is bald and beautiful.

10
Appendix Overview of Saskias life with DBA
  • Early/mid May After going in for a routine blood
    transfusion, Saskia is readmitted (first time)
    for observation and an extra intravenous
    antibiotic. She seems OK on whole but has been
    prone to occasional severe shivers which may
    indicate infection. Neutrophil count still going
    up. Platelet count seems holding at an
    encouraging level, but early days. Another blood
    transfusion. Certainly not making many red blood
    cells at the moment, which after all is the whole
    point. Stops taking the drug which controls blood
    pressure. She is discharged after 2 nights. No
    infections detected during this second stay in
    hospital, but doctors still extra wary. Saskia
    still has that cough. No shivers for a past few
    days.
  • Late May Saskia seems very well. She is at home
    but visiting the hospital 2-3 times a week. She
    has met up with a few friends for one-on-one play
    dates. Her home schooling has started 5 hours a
    week is not a lot but hopefully it will keep her
    up to speed with her peers. There have been some
    minor discipline issues as would be expected from
    a child who, for a few months, has been spoilt
    for attention, been highly controlled but had no
    routine. The daily grind to take the many
    medicines is getting slightly easier but still a
    challenge.
  • Later May Results of first "chimerism" test come
    back to reveal how much Saskia's old bone marrow
    (which we hope to have killed) is still working
    and how much her new bone marrow is working. The
    test says that the bone marrow at work is at
    least 97 Imogen's - the test doesn't go higher
    than 97. Saskia is taking her medicines better
    although we are having difficulty maintaining her
    cyclosporin levels (that's the one that protects
    against Graft Vs Host Disease). We still go in to
    hospital 2 - 3 times a week. No more blood
    transfusions. Hope to see first evidence of red
    cell production soon.
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