Sur1 Hyperinsulinism

Welcome to Holland

By Emily Pearl Kingsley

I am often asked to describe the experience of raising a child with a
disability - to try to help people who have not shared the unique
experience to understand it, to imagine how it would feel. It's like
this.

When you're going to have a baby, it's like planning a fabulous
vacation trip - to Italy. You buy a bunch of guidebooks and make your
wonderful plans. The Coliseum. Michelangelo's "David." The gondolas
in Venice. You may learn some handy phrases in Italian. It's all very
exciting.

After months of eager anticipation, the day finally arrives. You pack
your bags and off you go. Several hours later, your plane lands. The
flight attendant comes and says "Welcome to Holland." "Holland?!" you
say. "What do you mean, Holland? I signed up for Italy! I'm supposed
to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland
and there you must stay. The important thing is that they haven't taken
you to a horrible, disgusting, filthy place full of pestilence, famine
and disease. It's just a different place.

So you must go out and buy new guidebooks. You must learn a whole new
language. And you will meet a whole new group of people you would never
have met. (That sure is fits the bill! :) It's just a different
place. It's slower paced than Italy, less flashy than Italy. But after
you've been there for a while and you catch your breath, you look around
and you begin to notice that Holland has windmills, Holland has tulips,
Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy, and they're
all bragging about what a wonderful time they had there. And for the
rest of your life, you will say "Yes, that's where I was supposed to
go. That's what I had planned." And the pain of that will never, ever,
ever go away, because the loss of that dream is a very significant loss.

But if you spend your life mourning the fact that you didn't get to
Italy, you may never be free to enjoy the very special, the very lovely
things about Holland.

back to top

The Special Mother

God is hovering over Earth selecting His instruments for propagation with
great care and deliberation. As he observes, he instructs His angels to
make notes in a giant ledger.

"Armstrong, Beth: son. Patron saint... Matthew."
"Forest, Marjorie: daughter. Patron saint...Cecilia"
"Rutledge, Carrie: twins. Patron saint... give her Gerard. He's used to profanity."

Finally he passes a name to an angel and smiles. " Give her a child with PHHI."
The angel is curious. "Why this one God? She's so happy."

"Exactly," says God. "Could I give a child with a handicap to a mother who does not know laughter? That would be cruel."

"But does she have patience?" asks the angel.

" I don't want her to have too much patience, or she will drown in a sea of self-pity and despair. Once the shock and resentment wear off, she'll handle it."

"But Lord, I don't think she even believes in you."

God smiles. "No matter. I can fix that. This one is perfect. She has just enough selfishness."

The angel gasps "Selfishness? Is that a virtue?"

God nods. " If she can't separate herself from the child occasionally, she will never survive. Yes, here is a woman whom I will bless with a child less than perfect. She doesn't realize it yet, but she is to be envied. She will never take for granted a spoken word. She will never consider a step ordinary. When her child says 'Momma' for the first time, she will be witness to a miracle and know it! When she describes a tree or a sunset to her blind child, she will see it as few people
ever see my creations. I will permit her to see clearly the things I see -- ignorance, cruelty, prejudice -- and allow her to rise above them. She will never be alone. I will be at her side every minute of every day of her life because she is doing my work as surely as she is
here by my side."

"And what about her Patron saint?" asks the angel, his pen poised in mid-air.

God smiles. "A mirror will suffice."

back to top

UK PHHI SUPPORT GROUP MEETING

WEDNESDAY 15TH JANUARY 2003

This was the second support group meeting held. The first one was held on Thursday 27th September 2001. The second meeting was in the conference room at Great Ormond Street Hospital (GOSH).

The meeting was arranged by Sonia, Rosie (nurses at GOSH) and me (Julia Killengray). It was great to see more than double the amount of parents present than we had last year. They came from far and wide, there was Margaret and Melissa from Australia, Gabrielle from Ireland and Elaine from Scotland who had both flown over specially to attend the meeting. We met Camilla and Bridget who are both grandparents to children with PHHI and Eve, a teenager who was born with PHHI and our oldest member with PHHI, Roy. We also met parents, Adrienne, Val, Graham, Sara, Gerry, Darren and Sarah; not forgetting the children we met, Jessica, Donovan, Isla, Ellie and Tate.

The meeting was opened by Dr Khalid Hussain, who gave a talk on 'An Overview of PHHI'. The topics he covered were:

Anatomy and Physiology of the Pancreas

How Blood Glucose Levels are controlled

Background to PHHI
On this subject, we also learned PHHI is now known as HI (Hyperinsulinism).

Management Cascade

Histological/Genetic Diversity

Research
Khalid informed us about a new imaging technique to localise the focal lesion. Finnish researchers discovered by accident the use of PET SCAN for HI, usually used for cancer patients, and so Khalid hopes GOSH will be able to do this very soon. This will be a fantastic step forward as it is a non-invasive method of determining whether the condition is focal or diffuse and if focal, the exact location.

At 11.00am, we stopped for coffee and then Dr Keith Lindley continued the meeting with a talk on 'The Gut in HI'. The topics he covered were:

How The Pancreas Forms In Babies

The Process Involved With Digesting Food

Glucose Sensitive Nerves In The Stomach

The Differences Between Normal and HI Stomach Activity While Eating Food
On this subject we learned that not only do our children have a defective pancreas but HI can also affect the stomach in some children. The problem is as follows, in a normal person as the food goes through, the gut signals to the stomach that food is arriving and the stomach becomes larger in anticipation of the foods arrival. However in some HI children, the stomach does not receive the signal so when the food arrives the stomach feels full after only a few mouthfuls. Gabrielle asked him if there could be a physiological reason for the gagging reflex and he said that it was probably a learned response as a result of this full feeling.

Since the meeting I have asked Keith Lindley if he has written a paper on the subject and he has informed me that a manuscript is nearing completion

At 12.45pm we stopped for a light lunch and during it we had time to talk to each other.

In the afternoon we were hoping to have an open surgery with a speech therapist and a dietician, but unfortunately they were unable to attend. Instead Sonia and Rosie held an open surgery, answered questions and from this a discussion arose between ourselves. The meeting ended at approximately 3.30pm.

The meeting went extremely well and I hope everyone gained a better insight of this condition. It was great meeting everyone; it was so nice to meet people in a similar situation as oneself, who knew exactly what one was going through. I hope to meet with you all next year.

Finally, I would like to say an ENORMOUS thank you to Dr Khalid Hussain and Dr Keith Lindley for giving us of their time and answering our many questions (we parents are a force to be reckoned with). A MASSIVE thank you to Sonia and Rosie for arranging the meeting. A HUGE thank you to Pat and Kate for looking after our children and last but not least a HUMONGOUS thank you to everyone who attended. Without you, this meeting could never have happened.

Best wishes to you all.

back to top

A FAMILY CONFERENCE ON CONGENITAL HYPERINSULINISM
WAS HELD AT
THE CHILDREN'S HOSPITAL OF PHILADELPHIA
PENNSYLVANIA, USA
JUNE 20 - 21, 2003

The Congenital Hyperinsulinism (HI) Family Conference provided parents with an opportunity to broaden their knowledge of Congenital Hyperinsulinism, while meeting specialists from around the world who conduct research and provide treatment for this condition. At this conference, parents learned about the science behind the various defects that cause HI , diagnosis of the disease, and the most advanced and effective treatments. Doctors from some of the leading treatment and research centers around the world also discussed the various auxiliary issues that often result from HI.

Some of the topics that were discussed included:

· Normal beta cell function and how defects in function cause various forms of HI
· HI diagnosis and the importance of early diagnosis
· Treatment of HI (medical treatment and surgery)
· Clinical outcomes for HI patients
· A look into the future of HI research, diagnosis and treatments
· Nutrition and feeding issues Cognitive development issues
· The impact of chronic illness and developmental delay on behavior and family life
· Stress management techniques

Download the Conference report

Histories
Faces of Congenital HyperInsulinism
A twenty-minute film

Congenital Hyperinsulinism (HI) is a rare genetic disease causing severe hypoglycemia. If left untreated HI can lead to brain damage. Early treatment and proper daily management reduce that risk. At the first international family conference on this disorder, HI family members and their physicians intimately discuss their medical and personal experiences of life with this disease.

Download the order form

Histories
Perfect Gifts for the Hospital Family Away from Home

Do you have a friend or family member who needs to be in the hospital for a long time? The hyperinsulinism group has some ideas of things to send or take with you when you visit.

Books (find out favorite authors, genres, titles)
Also, favorite magazines

Food
Sweet treats (gum, favorite candy)
Gift card for local merchants/restaurants
Healthful prepared food (e.g., soups. baguettes, cheese, fruit)
Pre-packaged healthy snacks (e.g., dried fruit and nuts in small bags)
Small tins of edible stuff (e.g., tuna, salmon)
Packets of heat and eat soup/pasta if floor has a microwave
Preferred brands of tea and coffee if floor has kitchen

Laundry and other cleaning items
$10 rolls of quarters
Individual pouches of laundry detergent
A sample size bottle of dish soap
Dryer sheets

Grooming
Nail gloss (fun colors) and remover pads
Deodorant & bar soap
Shampoo & conditioner
Toothbrush & toothpaste
Chapstick
Floss
Small packets of tissues
Tweezer
Razors

Sleep
Ear plugs
Eye mask
Warm blanket
Sound machine

Health
Vitamins
Coupon for an on-site massage

Just for fun (for the whole family)
Bubbles
Coloring book & crayons
Play-doh
Crosswords and mind-stretching puzzles
Playing cards
Sketchbook
Small craft project

Communications
Disposable camera
30-minute phone cards (no cell phone access in hospitals)
Notebook and pen
Gift certificate to local internet café (if hospital does not have internet access for parents)
Coins for phone calls
Postage stamps

For the Baby
Cotton baby clothes (like “onesies”) that can accommodate lines, drips etc.
Homemade quilt or blanket

Miscellaneous
Travel mug
More ideas to come! Will work this into an article later.
Best,
Alison