Every mom anticipates her childs first day at kindergarten.

For Jessica Pequeno, that kind of milestone is something this mom is only now ready to imagine.

The last time the Napa Valley Register wrote about the Pequeno family, it was October 2015. Their then 22month-old toddler Xavier was about to begin the fight of his life against an immune deficiency disorder so rare it had no name.

Today, there is good news about Xavier and his family.

The now 4-year-old completed a grueling, yet successful stem cell transplant, just started his second year of preschool and is making progress with his health, said his mother. Come this time next year, shell be enrolling him in kindergarten.

Every day is different. We still deal with so many unknowns, she said. But, Hes doing so much better than anybody would have ever expected.

Just getting to this point was a long road.

Two years ago, the Pequenos told their story in hopes of finding a bone marrow transplant match for their son. Doctors originally told them there was no match within the family. Fortunately, after a second set of tests, the Pequenos middle son, Higinio Pequeno IV, was identified as a partial match.

That news was awesome, said Jessica Pequeno.

The family prepared for the transplant to take place in June 2015, but a stubborn infection put those plans on hold. By December, his health care team at the University of California at San Francisco wouldnt even give us odds as his percentage of survival because they didnt know, she said.

They finally had a name for his disease IKBa gain of function mutation with ectodermal dysplasia but there were too many unknowns.

Pequeno said she realized the stem cell transplant was a kind of a now-or-never situation.

We just kept saying, We just have to keep doing this. Giving up wasnt an option.

On Dec. 1, 2015, Xavier was admitted to the hospital for the transplant. The process began with eight days of chemotherapy followed by the stem cell transplant.

Putting a line in his femoral artery, blood was collected from Higinio, then 10. Then a machine separated the stem cells from the blood. Higinios stem cells were then given to Xavier. The stem cells were put into a vein, much like a blood transfusion. The stem cells are then meant to travel to the bone marrow, engraft, and hopefully begin making new, normal blood cells.

On the day of the transplant, the whole Pequeno family, including her husband Higinio, son Higinio and daughter Maya and Jessica Pequenos mom were there. Seeing those potentially life-saving cells go into her son was very emotional, said Jessica Pequeno.

We all cried, she said. It was really scary, but you cant stop. You have to keep going.

During the procedure, Xavier was awake, she said. But the side-effects of the chemotherapy were starting to set in. His hair was falling out, and he had stopped eating and drinking because his mouth sores were so bad and painful, she said. He was on morphine for the pain.

The waiting began. Would the stem cell transplant be a success?

The family was told that Xavier would likely spend many months in the hospital. We planned to be separated as a family for at least six months, said Pequeno. We just expected it to be really hard.

She spent her nights in the room with her son, sleeping on a blow-up twin mattress. The rest of her family went back to Napa. Because Jessica was unable to work and her husband couldnt work because he needed to have knee surgery, the family had moved in with Jessicas mother.

Meanwhile, doctors continued to check Xaviers blood to see if his body was responding to the stem cell transplant.

Every day Id ask, Where are we at? his mother said.

And then, one day in early January, the doctors came to see Xavier, and they said, We have good news.

The transplant was starting to work and the new cells were starting to grow, she said.

I cried, said Pequeno. It happened so much faster than what they had expected.

By the end of January, Xavier was well enough to go home to Napa.

It was scary to come home and super exciting, she said.

Back at home, a new routine was created. Xavier was still taking 25 different medications, some multiple times per day. He had a gastrostomy or G tube for feeding the nutritional liquid he eats and a central line a thin, flexible tube used to give medicines, fluids, nutrients, or blood products over a long period of time.

Honestly I dont remember a lot of it. It becomes a big blur, said Pequeno.

The family continued to visit UCSF at least once a week for blood counts and other checks. There were more ups and downs. Infections and illnesses caused him to be hospitalized for days at a time in February, May and June. His central line got infected. He got shingles.

His immune system was still really weak, said Pequeno.

But he kept bouncing back.

Just two weeks ago, doctors finally removed his central line.

It was a huge step, she said.

Challenges remain. Before the stem cell transplant, Xavier had about 5 to 10 percent of a normal immune system. Now he has about 60 to 70 percent, doctors said.

Were starting to learn hes really prone to sinus and respiratory infections, and viruses, said Pequeno. His body just doesnt fight like everyone elses.

Other habits are harder to change.

Before Xavier went to preschool, Pequeno and her family were able to carefully control his exposure to germs.

When he was able to go to preschool, I wasnt in control of those environments anymore. Its really hard. It gets easier, but it takes a while to learn how to kind of let go, she said.

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Today, Xavier takes only six medications a day and can receive infusions of antibodies at home. Visits to UCSF have been cut back to once every four to five weeks.

Developmentally, Xavier is doing well, she said.

He has some hearing loss, which we continue to monitor. Its hard to say if its a side effect of chemo or other drugs. Right now it doesnt affect his speech. He also has skin, hair and teeth health issues to manage.

Xavier doesnt complain at lot, said Pequeno.

Hes always handled everything so well. When he suffered, He would get quiet. Even now when hes not feeling good, instead of crying like many small children would, Xavier is quiet.

Financially, its hard because Im still not able to work, she said.

Xaviers medical care is provided by Partnership HealthPlan/Medi-Cal and California Childrens Services. Her husband went back to work. Pequeno is taking classes at Napa Valley College while her son is in preschool.

I want to be a nurse but I want to go into pediatrics I want to teach parents how to advocate for their kids.

One of the most significant changes for Pequeno was becoming more confident in working with health care providers regarding her sons care.

Nobody could hand me a book when this started (that said) these are the things you need to know and questions to ask. No one told me I was the captain of his team. Her confidence grew. You have to get comfortable in that role.

The past several years have left a lasting imprint on the whole family, she said. Signs of post-traumatic stress have been seen in all family members. Learning coping skills and how to manage stress is important.

Especially for their son Higinio, said his mother. Its not easy for young boy to come to terms with what his brother went through and his own unique contribution.

I dont think any 10-year-old is capable of understanding the weight that carries, she said.

The struggles havent ended, said Pequeno.

Weve just learned to manage them and adjust and deal with the financial part. We juggle. You learn how to change your priorities.

Its easy to say her son looks healthy, said Pequeno, but thats also frustrating because it takes so much work to get him to continue to look like that.

It definitely takes a toll and lot of work and sacrifice to keep him where hes at, she said.

And Xaviers condition isnt going away, she noted. This is something we will manage for the rest of his life one way or the other.

People say, Oh youre so strong. But I think that as a mom, you just do it, said Pequeno. You pull the strength from somewhere. Because you dont give up on your kids.

Read more from the original source:
A Napa family struggles to give their child a normal life - Napa Valley Register

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