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 ¼ 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.