August 2005 Archives

The forgotten 4 legged child, Sadie. Sadie is our beagle who will be 6 in November. Both Christina and Jack love her to death. This is Sadie's doctor.
Dr. Silas Ashmore is the owner of "All Creatures Great and Small" located in Fairfield and also Mountain Lakes Animal Hospital. He is a wonderful veterinarian who truely cares about your pet. He is also the sponsor for our silicone wristbands which has an expected delivery date of September 20th from China. This will be another fundraiser for the "Found N.E.M.O - Finding Cure" cause. Dr. Ashmore is a great Veterinarian and is also a great person who cares about Jack and helping with the cause. Please visit Dr. Ashmore with your animal and tell him Sadie, Tina, and Jack sent you.

After attending 2005 N.F.E.D. Family Conference in Overland Park, Kansas and seeing that we are not the only family who are experiencing some effects Of Ectodermal Dysplasia. You know that there are other families but, until you see them up close and personal it really doesn't sink in. After speaking with Jodi Reinhardt, Dir. of Development of N.F.E.D. and hearing about the Halloween Bash which is held in New York City. Charlotte was asked if she would be interested in volunteering for the Bash this year. Not having to think about it she said "whatever I can do to help" They are also looking for more volunteers (below is the email Jodi sent Charlotte) If anyone is interested in volunteering please let Charlotte (charhagelin@comcast.net) know. The more the merrier and it sounds like fun.

Hi Charlotte,

I enjoyed meeting you at the Family Conference this past weekend. It was such a great time, wasn't it? I hope that your family enjoyed it. I wanted to follow-up with you regarding the Halloween Bash that we discussed.

This year's event is Thursday, October 27th at The Altman Building in New York City. We are looking for volunteers to
1) help recruit items for the auction, attendees for the event, or advertisers for the journal/program.
2) set up the event during the day on the 27th. We typically begin at 9 a.m. It takes us all day. Sometimes guests arrive while I’m still in my blue jeans!

3) volunteer at the actual event. This is the hardest one to get volunteers for. I would LOVE for you and your friends to volunteer for this. Those NFED families who volunteer will be worked for the entire event (5:30 - 9:30/10 p.m.) and are not charged admission. I always need people to work the silent auction which means making sure people don't steal items, pulling the paper work when the auction is closed, and handing out items once donors provide verification that they have paid for it. I will take as many volunteers as you can bring for this. Tell them to be prepared to work. It's not tough work but it is important and I need reliable worker. I'd love to have all of your help!

Obviously, we have time before the big event. Let me know what your thoughts are. Thanks so much!

Sincerely,

Jodi

Jodi Edgar Reinhardt
Director of Development
National Foundation for Ectodermal Dysplasias
Phone - 618-566-2020
Web Site - www.nfed.org

First and foremost, I would like to Thank Andy's dad Andres Trevino. He is responsible for setting up this Blog and the website. Please check out Andy's website and blog, Andres hardwork speaks for itself. If you shop on Amazon buy through Andy's site and help Andy and his family. Check out the other links to various other shops also.

Today was IVIG day down in Philadelphia today. Dr. Smith one of the fellows from Infectious Disease came by to see Jack for a consult and a recalculation on Jack's medications. He could not get over how good Jack looked. He has not seen him since the middle of April. Check out the 2 pictures April. View image Now the one taken Aug. 6 View image. 8 lbs. difference, the effects of the stroke all but gone and feeling a whole lot better. Anyway Dr.Smith said he was going to talk Dr. Orange about stopping some of the medications for the Mycobacterial Infection. Jack has not tested positive since January. Thanks Dr. Smith

Anyway, hopefully this post will be successful. Keep checking the website and the blog. It will be under construction for the next few weeks. I will try and update "the Blog" every couple of days.

Thanks Again to Andres

Fairfield boy struggles with rare genetic disorders
By JACLYN STOLFI Staff Writer
Jack’s Story Community Support

FAIRFIELD TWP – “Finding NEMO” was only half the battle for Jack Hagelin, 2, and his family, of Marian Court; now they have to beat it. After two years of hospital stays and incorrect diagnosis, Jack was found to possess a rare combination of two mutated genes, ectodermal displaysia (ED) and nuclear factor kappa B essential modulator (NEMO).Jack’s “normal” day varies greatly from other children his age.

Normalcy for Jack is a daily regimen of nine medications three times a day and two shots.

“I live by a clock,” said his mother, Charlotte Hagelin.

At night, Jack is fed intravenously through a tube for 10 to 12 hours. A formula provides him with all of his caloric needs.

“He doesn’t really know how to eat and enjoy food yet,” said Mrs. Hagelin. “There are days where he doesn’t eat anything at all.”

Despite his illness, Jack behaves like any other little boy.

“He drives me up a wall and acts like your normal 3 year old,” she said.

Jack’s personality has made him many friends, said Roy Hagelin, Jack’s father.

“Once you see Jack in action, it’s hard not to love him,” he said.

Jack was even made Honorary Firefighter for a day at the Fairfield Fire Department Wet Down on Saturday, June 18.

“Our neighbor is the fire chief and they wanted to do something special for Jack,” said Mrs. Hagelin.

Picked up by the fire truck and taken to the firehouse, Jack was presented with a child’s helmet and a turnout coat with a plastic axe, a walkie-talkie and a fire extinguisher.

Impressed by his disposition and energy, Jack’s parents feel that he is “one in a million,” however, he is also one of 15.

“Jack is one of 15 known cases in the world,” said Roy Hagelin, referring to his combination of ED and NEMO.

The ED gives Jack his sparse hair, sensitive skin, peg-shaped teeth and the inability to sweat.

“The only problem with ED that could be life threatening is heat stroke,” said Mr. Hagelin.

NEMO is a primary immune deficiency associated with ED. Jack is unable to fight infections, so is given intravenous immunoglobulins (IVIGs) or antibodies every 21 days.

Under the microscope, Jack has all the same cells as a healthy child, said Hagelin.

“His master cells just don’t know how to communicate with the rest of his cells to fight an infection,” he said.

Jack also has chronic diarrhea and lymphodema or lymphatic swelling which leads to frequent infections. He requires total parent nutrition (TPN) administered through tubes placed in his stomach.

“It’s a lot of things that no one would ever think of, our first child was healthy as a horse,” said Mr. Hagelin referring to his daughter and Jack’s only sibling, Christina, 7, a second grader at Adlai Stevenson School in Fairfield.

The disorders are passed on through genetics. Jack’s mother was a carrier and passed the trait on to her son.

It was not until after Jack was diagnosed that Mrs. Hagelin, even realized that NEMO might have caused the deaths of her twin brother and nephew who both died as babies.

“We’ve gotten into genetic testing,” said Mrs. Hagelin. “The whole family is getting tested.”

According to the Hagelins, Jack’s best hope is a stem cell transplant, giving Jack a new immune system and a new lease on life.

“Even with IVIG, not having a stem cell transplant, most children (with NEMO) don’t make it past 10 years old,” said Mr. Hagelin.

“We’re looking in January (2006) for a transplant and praying that it works,” he said.

Mrs. Hagelin quit her job as a hairdresser and manicurist to take care of Jack. She is a firm believer that love of a family helps sick children get better.

“My wife is the savior to Jack, when he is in the hospital she does not leave his side,” said Mr. Hagelin.

To play outside, Jack has to wear a rubber hockey helmet.

“If he falls or were to crack his head open he would most likely bleed to death because of his blood thinners,” said Mr. Hagelin.

To take Jack anywhere the Hagelin’s pack an arsenal of both comfort and medical items.

“Helmet, meds, diapers, wipes, creams,” said Mr. Hagelin. “It’s like packing for an infant.”

Jack was born on Sept. 4, 2002, and at only five weeks old, he was hospitalized for severe malnutrition and dehydration.

“They (the doctors) thought he had a severe milk protein allergy,” said Mrs. Hagelin. “He spent the next 10 weeks in the hospital.”

Jack developed swelling in his legs and doctors suspected a rare intestinal disorder called lymphangiectasia.

“In the two years of this suspected diagnosis (lymphangiectasia) he had 15 hospital stays for cellulitis,” said Mrs. Hagelin, describing cellulitis as an infection in the soft tissue of the skin because of swelling in lower extremities.

At Morristown Memorial Hospital, Morristown, Jack was tested and once again diagnosed with severe milk protein allergies.

In June 2003, the Hagelins flew Jack out to a children’s hospital in Pittsburgh, Pa., where Jack was examined by a team of specialists.

“You name it we saw it,” said Mr. Hagelin, “and came to find out they had nothing for us.”

Their next stop was a diagnostic specialist at Dupont Children’s Hospital in Delaware, who also offered no answers.

“We weren’t able to pin down a diagnosis on Jack and at the time he was growing two pointed front teeth,” he said.

Concerned that he might hurt himself, the Hagelins brought Jack to a local dentist who filed his teeth but provided no answers.

Meanwhile, Jack was on a restricted diet, excluding milk and soy grains.

“He was given elemental formulas,” said Mr. Hagelin. “Crazy stuff that we’d never heard of.”

In between doctor visits, Jack would go into dehydration and have to be hospitalized to gain weight. The Hagelins were next referred to Hasborough Children’s Hospital, Providence, R.I., where Jack was similarly diagnosed.

Still not sold on the allergy diagnosis, the Hagelins returned to Morristown Memorial for further testing.

Despite doctors’ insistence that Jack had lymphangiectasia, the scopes showed no signs of the disorder.

“We kept going back and forth waiting to see if anyone came up with anything else,” said Mr. Hagelin.

From, Jan. 1 2004, to July 2004, Jack suffered several cellulitis infections and in March began receiving TPN through a gastronomy tube (g tube), placed in his stomach to administer nutritional fluids.

“That year we had spent close to 100 days in six months in hospital stays,” said Mrs. Hagelin.

Taking matters into their own hands, the Hagelins drove out to Ohio in October to visit the Cincinnati Children’s Hospital.

Using Jack’s g tube the doctor performed a test that ruled out food allergy and lymphangiectasia, however, dental X-rays were the catalyst for Jack’s ED diagnosis.

“The senior pediatric dental resident took one look at Jack and said ‘I think he has ectodermal displaysia,’” said Mrs. Hagelin.

The first the Hagelins had ever heard of ED, they researched the disorder and were astounded by their findings.

“We couldn’t believe how for two years we went on possible diagnosis of severe milk protein allergy,” she said.

The Hagelins also met with an immunologist, who suggested that Jack had nuclear factor kappa B essential modulator mutations syndrome (NEMO). That was another disorder the Hagelins had never even heard of.

The Hagelin’s were relieved to have a partial diagnosis.

“What a load off our backs,” said Mrs. Hagelin. “Finally, we had a label for what was going on in him.”

After Ohio, Jack was placed on a prophylactic antibiotic to help avoid infections and shortly thereafter, test results verified that he had NEMO.

Despite the advances made in Ohio, it wasn’t until Jack’s first trip to the Children’s Hospital of Philadelphia, Pa. (CHOP) that “all the pieces of the puzzle would start to come together.”

After a chest X-ray at Saint Barnabas revealed possible pneumonia and an expedient broncoscopy was needed, the Hagelins reached out to Dr. Jordan Orange in Philadelphia, Pa.

“We were familiar with him because after looking up NEMO on the computer, he was the guy writing all the articles,” said Mr. Hagelin.

Orange retested Jack and found that he not only possessed NEMO but he “had his own strand of NEMO, a type of NEMO that has never been seen before,” said Mr. Hagelin.

After returning home Jack was back in St. Barnabas in February. While in the ICU, one of Jack’s eyes began to cross and an MRI revealed that Jack had suffered a stroke.

He was Medivaced out of St. Barnabas and taken to CHOP to see a stroke specialist.

Dr. Orange was away and the Hagelins felt as if they were “flying without their safety net.”

“He is Jack’s savior and we rely on him heavily to guide us on Jacks’ s care,” said Mr. Hagelin.

Jack came out of the stroke after a five-week hospital stay and care from a new group of specialists.

“The stroke changed Jack’s care for the better, they’ve really got a handle on him,” said Mr. Hagelin. “I wouldn’t say we’re in the clear, but Jack is getting some normalcy in his life.”

Every 21 days Jack has to go to Philadelphia for his IVIG treatments, however, with his doctors’ appointments Jack is in Philadelphia three weeks out of each month.

This whole experience has brought a close family even closer and given the Hagelins a new perspective, they say.

“When you wake up in the morning it’s a new day, it’s one more day that we have (with Jack),” said. Mr. Hagelin.

Mrs. Hagelin is planning a fund-raiser in the fall.

“I’ve started putting together a charitable organization in Jack’s name to help defray the costs of medical expenses,” she said. “My husband and I are the worst people when it comes to this. We’re used to giving money, not taking it.”

Information on ED and NEMO can be found at www.nfed.org, the National Foundation of Ectodermal Displaysia or www.andy.org.mx.