Allison,

Thank you for taking the time to work on this and think of us all in your own pain and loss. I would really like to participate. I can't seem to fill in the answers on this page though. Do I attach it in an email and send it to you directly or should I print it out and mail it. I am sorry that I am ignorant of technical things. If anyone knows how to make this effective please let me know so that Allison doesn't have to be burdened.

Sorry I haven't been good about posting. I do try to keep up with reading everyone elses posts and continue to pray for you all. But as you all can relate sometimes putting life into words is too overwhelming. We are doing well though. Our Micah has done amazingly well. With the exception of a few colds he has stayed very healthy this winter. He is so much more consistant from day to day. We see more smiles and more response than ever before.
I will try to give a more specific update soon.
Love to you all and I continue to have a heavy heart for Allison and the rest of you wonderful moms who have lost your precious children.

Jennifer Patchin

--- In MPEIparentsupportgroup@yahoogroups.com, Alison Maguire <alisonmaguire@...> wrote:
>
> Hi All,
>
> Firstly, I received a message from Boston university who have requested
> consent to access Niamh's medical records for their research into MPEI.
> Obviously I have said yes but thought I would attach their contact details
> in case anyone else wants to be involved and has not yet been contacted.
>
> Secondly, it has prompted me to get back on the case with the questionnaire
> that I started last year but because of technical difficulties (my version
> of word) many of you couldn't open it and I only got 5 replies back - Debbie
> (Mollie's Mum); Laure (Rylie's Mum); Rebecca (Justin's Mum); Satnam
> (Kristan's Mum) and Rachel (Micah's mum).
>
> Obviously if you don't feel like you can take part then that is absolutely
> fine, but if you think you replied but I didn't get it, then please can you
> try re-sending and sorry for the inconvenience. If you haven't and would
> like to, please complete the questionnaire below.
>
> Thank you all very much
>
> Alison x
>
> *MPEI Parent Questionnaire *
> Basic Information Childs Name Childs DOB Child's Sex Address
>
>
> Contact e-mail Mothers Name Fathers Name
>
>
> *1. Pregnancy & Delivery*
>
> a) Were you aware of any problems with your child during pregnancy?
>
> b) Was your affected child your 1st pregnancy, 2nd etc?
>
> c) Was your child conceived naturally or through assisted means (IVF /
> hormone therapy etc)?
>
> d) If you have had any other children, did your pregnancy with your affected
> child differ in any way from the others?
>
> d) How many other healthy children do you have? (boys/girls)
>
> e) Were you ill at all during your pregnancy (other than usual pregnancy
> aliments) eg. viral illnesses, flu?
>
> f) Did your child arrive on the due date? If not how early or late were they
> (days)
>
> g) Did you have a natural deliver or Caesarean?
>
> - Natural (vaginal delivery) - did you have pain relief, if so what kind?
> was the baby's delivery assisted (ventouse, forceps?)
>
> - Cecasean - was this planned or emergency? Were you aware of why you were
> having a caesarean?
>
> h) How long was your labour
>
> i ) Is there any further information you would like to add regarding the
> labour/delivery?
>
> *2. Newborn*
>
> a) Did your newborn cry on arrival?
>
> b) Did your newborn go into special care? If so for what reasons?
>
> c) Did your newborn have any trouble/reluctance to feed?
>
> d) Was your newborn overly sleepy?
>
> e) Was there anything else that you were concerned about in your newborn
> baby (other than seizures if these were present from the start)?
>
> *3. Seizures*
>
> a) What age did you first notice your child was having seizures?
>
> b) When diagnosed with seizures, did your doctor specify what type of
> seizure your child was having? ie simple, complex, partial, generalized?
>
> c) When diagnosed with seizures, did your doctor specify what type part of
> the brain the seizure was originating from?
>
> d) What did your child's early seizures look like and how long did they
> last?
>
> e) Did your child's seizures change over time?
>
> f) What do your child's current seizures look like and how long do they
> last?
>
> g) At what age was your child diagnosed with MPEI?
>
> h) How long after the seizures started was the diagnosis made?
>
> i) Please give a detailed description of all the different seizures your
> child had/had.
>
> *4. Other Tests*
>
> a) Do you have records of (or remember) the results of any blood, spinal
> fluid or genetic tests your child had done pre-diagnosis.
>
> b) Do you have records of (or remember) the results of any other tests like
> MRI's, cat scans etc that your child had done pre-diagnosis.
>
>
>
> *5. Developmental Progress*
>
> a) Did your child make any developmental progress prior to the seizures
> commencing?
>
> b) Please mark the chart with the age at which your child reached the
> following milestones:
> 1 month 3 months 6 months 18 months 2 4 6+ Smile Hold
> head up Make noises Fix and follow objects
> Reach for or grip objects Sit unassisted
> Crawl Stand Walk Talk
> Communicate in other ways
>
> (pls describe)
> Other
>
> c) Has your child continued to make developmental progress since the
> seizures started. If so, in what areas?
>
> *6. Medications*
>
> a) Seizure Medications:
>
> Please list the regular medications your child has been on and any impact
> these had on your child's seizures at the time
> Name of medication Age child stared this Duration on medication + effects -
> effects
>
>
>
> Please list the emergency seizure medications your child has been on and any
> impact these had on your child's seizures at the time
> Name of medication Age child stared this Duration on medication + effects -
> effects
>
>
> b) Other Medications (for other problems eg. stomach, muscle, chest etc... )
> Name of medication Age child stared this Duration on medication + effects -
> effects
>
>
>
> *7. Epilepsy Treatments - non medication*
>
> a) Has your child had any surgery for their epilepsy - VNS, brain surgery
> etc? Please explain the treatment and whether it resulted in an improvement
> in your child's condition?
>
> *8. Ketogenic diet*
>
> a) Has your child been on the ketogenic diet?
>
> b) How long was your child on the diet?
>
> c) Did you see any increase/decrease in the numbers of their seizures whilst
> on the diet?
>
> d) Did you see any increase/decrease in the severity of their seizures
> whilst on the diet?
>
> e) Did you see any improvement in their general wellbeing whilst on the
> diet.
>
> f) Did your child remain on anticonvulsants whilst on the diet? If so which
> ones?
>
> f) Did you notice any other changes in their condition whilst on the diet -
> side effects?, increased sickness, weight loss or gain, toleration problems:
> Please expand below:
>
> g) What were your reasons for stopping the diet?
>
> *9. Feeding*
>
> a) How does your child feed? Orally, Naso tube, gastrostomy, jejunostomy,
> deuodenostomy, other, or a combination of these?
>
> b) At what age did your child start feeding by methods other than orally?
>
> c) what were the reasons for introducing non oral feeding? eg risk of
> aspiration, weight concerns, chest infections? ...................
>
> *10. Reflux/Vomiting*
>
> a) Does your child suffer from reflux?
>
> b) Do their symptoms include pain, sickness or both?
>
> c) Does your child take medication to relieve their symptoms?
>
> d) What medications are your child on for their reflux?
>
> e) Do you feel that the medications are helping your child's reflux?
>
> f) Is your child's reflux better/worse during times of increased seizure
> activity?
>
> g) Has your child had any surgery for their reflux? eg. fundoplication,
> widening of the exit of the stomach?
>
> h) Does your child experience any other problems with their stomach/gut
> like...
>
> - Slow moving bowel/ Constipation
>
> - Anti-peristalsis (backwards movement of food/bile up the gut)
>
> - Gastritis (bleeding of the stomach lining)
>
> - Other
>
> *11. Chest Complaints*
>
> a) Does your child suffer from asthma?
>
> b) Does your child suffer from regular chest infections? If so, how is your
> child treated for these and where (home or hospital)?
>
> c) Do you know if your child is asymptomatic but colonised with any chest
> bugs eg. pseudomonas, staphylococcus ...etc?
>
> d) Is your child on regular oxygen?
>
> *12. Scoliosis (Curvature of the Spine)*
>
> a) Does your child have scoliosis (curving of the spine)
>
> b) If your child sees an orthopaedic surgeon, do you know if your child's
> spinal curve is lateral (sideways) rotational (twisted) or both? Do you know
> the degree of curvature your child spine has?
>
> c) Does your child wear a brace to support their spine?
>
> d) Has you child had surgery to correct their curve. If so what have they
> had done? Has there been any improvement following surgery?
>
> *13. Dystonia/Muscle Spasms*
>
> a) Does your child experience muscle spasms in any part of their body?
>
> If so:
>
> b) What parts of their body spasms and how long do the spasms last?
>
> c) How frequently does your child experience these episodes?
>
> d) Do they take any medication for these and if so how effective has it
> been?
>
> e) Can you remember at what age these spasms started?
>
> *14. Vision*
>
> a) Is your child registered severely visually impaired or blind?
>
> b) Do you believe your child has a problem with their vision?
>
> c) Is the problem with their vision continually the same or does it seem
> intermittent?
>
> d) Do they fix and follow objects?
>
> e) Do they respond visually to actions in the absence of sound?
>
> *15. Hearing*
>
> a) Is your child registered deaf or hearing impaired?
>
> b) Do you believe your child has any problem with their hearing?
>
> If so - please expand why you think this?
>
> *16. Screaming crying*
>
> a) Does your child experience periods of unexplained screaming.?
>
> b) Do any other symptoms coincide with this screaming? ie. back arching,
> head turning, sickness, seizures?
>
> c) Please explain what you have tried to alleviate the screaming ie -
> medications, positioning, distraction etc and detail the results of any
> intervention and how effective these are?
>
> *17. Temperature Control *
>
> a) Does your child have difficulty in regulating their temperature?
>
> If so, please explain the problems your child encounters.
>
> *18. Other Problems*
>
> a) Has your child been diagnosed with any movement disorders?
>
> b) Does your child have any problems with dislocated/displaced hips?
>
> c) Does your child have any other problems that have not already been
> covered above?
>
> *19. General*
>
> a) What is their approximate weight?
>
> b) What is their approximate height?
>
> *20. Mortality*
>
> a) Has your child passed away?
>
> b) If so what date did they pass and what age were they?
>
> c) What was the cause of death if you know?
>
> Thank you very much for your time. We hope that the information you have
> provided will enable further and more educated research into this awful
> condition.
>
>
>
>
>
> ---------- Forwarded message ----------

> From: <bbarry@...>
> Date: 2009/2/17
> Subject: RE: MPEI DNA samples

> To: alisonmaguire@...
>
>
> Alison,
>
> I am so very, very sorry to hear of the recent passing of your daughter
> Niamh. It is clear you are being a very strong and informed advocate for
> your daughter and other families in your position even during your
> grieving. I would very much value receiving a copy of the information you
> are putting together. I'm certain it will be a wonderful and much needed
> resource.
>
>
>
> You may send the medical records release forms directly to GOSH to ensure
> they send us any of the records on Niamh. After we review the records we'll
> follow-up with research options which likely will include sending us DNA
> obtained from the samples you arranged for before Niamh's passing and from
> the rest of her family. I'll be in touch as records come into our lab but
> feel free to check in at any time.
>
> With sympathies,
>
> Brenda
>
> *___________________________________*
>
> *Brenda Barry, MS, CGC*

> *Walsh Lab**oratory**, **Genetic Counselor & Research Coordinator *

> *Phone*: 617-919-4371
> *Fax: * 617-919-2300

> *Email*: bbarry@...
> *Lab Website*: www.walshlab.org

> *General Postal Mailing Address:*
> 300 Longwood Avenue; Children's Hospital Boston, CLS 14047; Boston, MA
> 02115 USA
> *Shipping Address for FedEx & Packages:*
> 1 Blackfan Circle; Children's Hospital, CLS 14047; Boston, MA 02115 USA
> ------------------------------
>

> *From:* Alison Maguire [mailto:alisonmaguire@...]
> *Sent:* Tuesday, February 17, 2009 11:06 AM

> *To:* Barry,Brenda (BIDMC - Neurology)
> *Subject:* Re: MPEI DNA samples
>
>
>
> Dear Brenda,
>
> Thank you for your reply.
> Of course we will consent to your obtaining any medical records you may
> think useful from our daughter Niamh Maguire. I will complete these forms
> and return them to you as soon as possible.
>
> Sadly my daughter passed away last Monday (9th Feb) at aged 4.
>
> We consented to a post mortem for research purposes (performed at Great
> Ormond Street Hospital, in London, last week) and samples of her brain and
> muscle tissue were taken and preserved. You are also welcome to use any of
> these that you may consider useful after her neurologists have taken what
> then need, and we can consent to that separately if required.
>
> We also knew that her passing was imminent so blood samples were taken a
> couple of weeks before she died and were intended to be storred for future
> use should anybody be researching into MPEI and wish to use them. Again
> these are held at GOSH, London and we can consent to your using them.
>
> If you would like blood samples from myself, my husband or Niamh's little
> brother (who is healthy) then please let us know and this can be arranged.
>
> Finally,
>
> Myself and some other parents are putting together a small study on MPEI
> from our childs perspective, including information offered by parents
> through the effected pregnany, birth and all the health problems our
> children have encountered during their short lives. Also infomation on the
> drugs/treatments they have tried and surgeries required.
> I did a medical biology degree (some years ago) so we are going to try and
> make this as professional and technical as we can but it is more of a
> gathering of information so we can see the similarities/differences in our
> children.
>
> We will me happy to send you a copy of this when we have completed it if you
> think it may be of interest.
>
> Thank you for researching this condition
> Kind Regards
> Alison Maguire
>
>
>
>
>

> 2009/2/17 <bbarry@...>

>
> Hello Ms. Maguire,
>
> Thank you for your contact and interest in our work. I am a genetic
> counselor working with Dr. Christopher Walsh, a neurologist researching
> genetic disorders of the brain. Our laboratory is trying to identify genes
> involved in causing epilepsy as well as brain malformations. There is no
> cost to participating in our studies and the details for participation will
> be outlined below.
>
> I apologize for just now getting back to you but we have been awaiting our
> new consent forms from our ethics committee and they finally arrived last
> Friday.
>
>
>
> Often when people have multiple seizures, a brain MRI is performed. We
> would like the opportunity to review of any available MRI films or other
> brain imaging and medical records related to neurology consults. Attached
> to this email are the request forms for medical records and MRI films. If
> these are completed and forwarded to the places where such records are held,
> those facilities can then send us the information directly. If there is any
> significant cost to this we can reimburse you. We review the medical
> records and the MRI films are reviewed by several neuroradiologists for
> their impressions. Once we have all this information we can best confirm
> options for research. I have attached a copy of the consent form as well
> for you to review.
>
>
>
> If we determine that your studies are appropriate we can send you a "kit"
> that includes tubes for blood, instructions and consent forms. Most people
> take the kit to their doctor to have their blood drawn then ship the package
> back to me by Federal Express. We pay for the FedEx shipping and send all
> the packaging materials. If there is any charge for having blood drawn, this
> can be reimbursed. We would ideally like to have blood samples from the
> people with seizures as well as close blood relatives
> (brothers/sisters/parents) who are not affected by seizures. This way we can
> compare any changes we may find in DNA from various relatives.
>
>
>
> As research is a lengthy process, it can be months to years before we have
> any results for your family, and sometimes this is never possible. As you
> may know, there are no genes linked to MPEI so this work is in the initial
> stages. Additionally, research laboratories cannot legally release
> individual results. If research on samples provided by your family shows
> results that may be of medical relevance to your family, you can be notified
> about this through a physician you indicate on the consent forms. Through
> this physician's office we could then arrange for our testing to be
> confirmed by a commercial, authorized laboratory that can then release
> results to you, though this may involve costs not covered by the research.
>
>
>
> If you are interested in participating in our research, please complete the
> medical release forms so we may review the information and MRIs if
> available. Please let me know if you have any additional questions. I hope
> that you and your family are doing well.
>
>
>
> Best wishes,
>
>
>
> Brenda
>
>
>
>
>
>
>
>
>
>
>
> *___________________________________*
>
> *Brenda Barry, MS, CGC*

> *Walsh Lab**oratory**, **Genetic Counselor & Research Coordinator *

> *Phone*: 617-919-4371
> *Fax: * 617-919-2300

> *Email*: bbarry@...
> *Lab Website*: www.walshlab.org

> *General Postal Mailing Address:*
> 300 Longwood Avenue; Children's Hospital Boston, CLS 14047; Boston, MA
> 02115 USA
> *Shipping Address for FedEx & Packages:*
> 1 Blackfan Circle; Children's Hospital, CLS 14047; Boston, MA 02115 USA
> ------------------------------
>

> *From:* Alison Maguire [mailto:alisonmaguire@...]
> *Sent:* Friday, January 30, 2009 3:52 PM

> *To:* Barry,Brenda (BIDMC - Neurology)
> *Subject:* MPEI DNA samples
>
>
>
> Dear Brenda,
>
>
>
> A friend of mine gave me your contact details.
>
>
>
> We have a 4 year old daughter called Niamh who was diagnosed with MPEI in
> 2005 and we live close to London in England.
>
> We are seen under Professor Helen Cross at Great Ormond Street Hospital.
>
>
>
> We would like to assist with providing s DNA for your study as we greatly
> value any research into this debilitating illness.
>
>
>
> Please let us know how best to proceed with this (and even if it is
> possible) and we can take samples of whatever you need and send them over to
> you.
>
>
>
> Thank you for your attention to MPEI
>
> Kind Regards
>
> Alison Maguire
>